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_22600
|
Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Regional enteritis
|
AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGG
|
AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACAAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGG
|
Task1_train_22601
|
This mutation occurs in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Blau syndrome
|
CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAA
|
CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCTTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAA
|
Task1_train_22602
|
Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Blau syndrome
|
GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTG
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GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATACCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTG
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Task1_train_22603
|
An alteration has been detected in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Blau syndrome
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CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACA
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CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCTCCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACA
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Task1_train_22604
|
This is a variant in NOD2 (nucleotide binding oligomerization domain containing 2), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Regional enteritis
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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Task1_train_22605
|
This variant impacts the gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Blau syndrome
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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Task1_train_22606
|
This gene mutation involves NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Blau syndrome
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATACGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACA
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Task1_train_22607
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This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inflammatory bowel disease 1
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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Task1_train_22608
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This alteration occurs within gene NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Blau syndrome
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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Task1_train_22609
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Given a variant located on Chromosome 16 and affecting NOD2 (nucleotide binding oligomerization domain containing 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Regional enteritis
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGAAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGA
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Task1_train_22610
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Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Regional enteritis
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TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
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TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAAACTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
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Task1_train_22611
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This variant affects the gene NOD2 (nucleotide binding oligomerization domain containing 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Blau syndrome
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TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
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TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAAACTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAA
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Task1_train_22612
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This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Behcet disease
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TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTC
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TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCTTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTC
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Task1_train_22613
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A variant was discovered on Chromosome 16, affecting NOD2 (nucleotide binding oligomerization domain containing 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Behcet disease
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ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTCCATCTCTGGAATTCTTGAATGGATCATCCATCCTTGATTAGGGATGTCCCCGTGATTACCAGGGTGTGCAGAAGGGCTCTGGGAAACCTGTGGGTCTGTCTCTGTGTTCAGAGAAAGGTGAGGGTGGCCTGGTTCTAGCTCATGGTGCTCAGACTGTGGTGTGTAAAGGCACTCGTGGCAATGCAGATTCCTGGGCCTGCCTCTAGTGATTCCCATTCAGTAGGTTTGGGGTGGGGCCCAGGAAATCTA
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ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGGGCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAGCTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAGGCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAAGACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCCAAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAAGAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGCTTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCCACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGCAAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACCGAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCATCATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCACGGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTGCTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCATTTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTTCGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATGTGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATTTCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAATTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGATGTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATGGCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCAGCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGGCTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCACTCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATCTGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGTGGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCTGCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAACTCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTATCTGCAAGGCTCTGTAGTGAGTGTTACTGGGCATTGCTGTTCAGGTATGGGGGAGCACCATCAAGGCTAAGTGTGGGAGCACCGAGCTGGGCTCTAGAAGTCTGGGCCCAGCTTCGCCTCTGCCACCCTGCTTTGCAACACTGCCCAGATCCCTTCCCTTCTGGGCCTTAATTTCAATATGTGATGATGACAGCCACACTTTATTGACTGGCCTATGTGCTGGGTCTGGTGCTATGCTTTCCGGAATGACCTCATCTAATCTCTACAACCACCCTGGCGGGTAGGCAGGAATGTTATTATCTCCATTATCCTTGACTTGAGGCTCAGAGAAGTGAAGTAACTTGTCCAGGAAATGGCAGAGCTGGGGTTCACAAATTGCATCATTCTGATTACAGGTTTTCTGCCTCCCACCAGTCTATGGATACACTTCAGAGGCTCCCTGAAAACCTTGAGGTCACTTGCAGAAAGTTTTGTGTAGTATGTGTCCGTATCAGGAACAACACCAAATCAGAGGTGACTTGTGCCCCATCAGAGACTTTAACACCCCAACCAGATGGGAATTTCAGGACCCAAGAAATAGAAAGTGGCTGCAGGGTTACAACTACTGTTGGATTCCTGAGGTAGCACAGTGTCCAAACAGGATTTCAGCACTACCCGTATTGCTTAGAGCCCCAGCCAAAGATGTGAGGTTTTGCCCTTTGGAGAATCTGTGCCCCTGAACTCGGGGGCCTCTTTCCACATCTTGGGGGCAGGCAAGGGCAGAGGGTGTGCCTAGGCCTGCGGATCAGCATGCGACAGATTCCCCAACATCCTTCCAGCTTGAAAGGGGATTGCCCTGCTTCTATTTAGAACCTATAGGAAAGCAGAAGTTCTAGATTGAAGTTAAAATTGATTCCCAGCCTCCAGGGGCTTTGGGCTACACCTGGATGACCTTAATTGACCCTAAGCATGGGACAAACCACTTCCTGAGAGTATTAGGATGGTATACATCTTCTCTGGGGGCAAAGCAACAAGATTTATTTTTCATCATGGACCAAACACATGGATACCCACTAGAAACTGTGTAGTGAATTTTGTTAACCCTGACATAGGGACCATGGTCTTTAGGTTAAAGCATAATAACAACATAATACATAACATATATAGCGAATATATATATGTATTATATGCAATGAATGTAAATATGATTATACCCATCATGGTCTTGGAGGAAACAGATGACACACTTAAAATGGGTGTTTTGAGGAGAGTTTGAAAAACAGATTGTTTACAAGCCATGGGCAGGAGTTAGGAAGAGTGAGAGGGTTGGTGCAGGGGCCTGGGGTTAGTAACAGCTGGGGGAGGGTAGACTTGAAGGGGGAAGGGGAGGGAGACTAATTAGCTGGGGGGAAGGTATGGAGACGGCTGCCTGAGCTTCTGCAAAGTGGAAGAATACCGCTTGGCCCTAACTCCTCACCCCAACTCTTGCTCCTGGCCAGCGCCTTCCACCAGCTGGACCCATCAGGGAGGCCGAGTGGGCTGTCTGCTGGAGTAGTCCCCAGGCATCAGCCTCCCAGGAGCCAGGGACGGGTAGAGAAGGGGGAGAGTGGATCTGGCCAGGCAAATGGAAAACAGCCAGCACCAAACTCTATTTCCCTAGGAGGGAGGATCATGATACTTTGAGTGGGAATTTGGAAACCTGTCTGTTGGAGCAATTTCCCTGATAGAAATAAGAATGTGCATTTTCCTGGGTAGTAGACTCAGTTTTTACCCCAAGAGGCCAGGCATCACTGGCCTGTGTGATCCTCATAGGCCAGTCCATCTCTGGAATTCTTGAATGGATCATCCATCCTTGATTAGGGATGTCCCCGTGATTACCAGGGTGTGCAGAAGGGCTCTGGGAAACCTGTGGGTCTGTCTCTGTGTTCAGAGAAAGGTGAGGGTGGCCTGGTTCTAGCTCATGGTGCTCAGACTGTGGTGTGTAAAGGCACTCGTGGCAATGCAGATTCCTGGGCCTGCCTCTAGTGATTCCCATTCAGTAGGTTTGGGGTGGGGCCCAGGAAATCTA
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Task1_train_22614
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The variant affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Brooke-Spiegler syndrome
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CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGCAGATTTTAGATTTTCAGTTTCTTATAAATTCCCTTTCCCATTTCCCTTGGTGGCTGTTTCACACTTCAGTATTAAAAGGATATTCTCTCTCAAAATTGTATATTCTGCTTTATAAAGTAAATGCTTTAATTTCCCAAGCAAATATTATTTAAAAAATCAGTCACAGCAAACCTAAAAATTTTTTATCTTAGTGTATGACAGTTACTTGTAGAGCATATAATAGTGTCTAGGATAATTCTGGTTCTAGATCTTTAATTTTGCAAACTTCAAGAAGAAGCTTATCATTGTTTTCTTCAAAAATAATTGTCTAACCTATTGATTTATGACATACTGGAGTTGTATAAGAAATGTGTTGGCCAGGTGTGGTGGCGCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACGCCTGTAATTCCAGCTACTTTGGTGGCTGAGGCATGAGAATCTCTTGAGCCTGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACACTCCAGCCTGAGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAGAAAAAAAGAAATATGTGATTAAGATGTGTTATATAATTTAATACATGCCAATATCAATTAATAGTTTTTTACTAACTTAGATATGGATATGTGTGTGCCACAAAAATTATGAAACTGAGGAAAATACTTGAAAAGGTGGAGGCTGCATCAGGATTTACCTCTGAAGAAAAAGGTGACCATCTTAACTTATATGCGTTAAAAATAACTGAAGAGCATATTCACATGTCAAAGTATTAGCTGAAATGTGTGTCTGTGTAGTTGGGGGGTTTTCTTTTAAATTAGAAATTTCTTTTTATGTGATATATGGTTAGCTCCTCTTTTTGTAAATTCTTCCTCTCTTCTAAAAGTGATTGATGATGTGGAATAATGAACTCCTTTAAGAAGCTGGCTGGTTCTAGTATATTAAATGCTTAAATAAAAAGTCCTTTCCTTTCCACCTAGCAATGATATTCTCAGTTGTTTCTCTCTTGTGGTGCAGAGTTGCATTGGGTTTTCTACATTTTCCCACTGAGTCTTCCCTGTTGTAAAAGGGAGTTAGAAAGCTGCTAACTAGGATTAAGTTTATAGTCAGGGAACAGTGTTATAATCTCTTCCTAGCTAATGGGCTTACTCAAAGATTCACCACCTGACTTTGAATTTGTCAGCAGCATACTGTAAACAGCTGTAATGTTCAGAGGCTTGCAGGAAAAAACAGAGCATACTTCAGATTGTACTCCATTTACCTTAACCCCTCCAAAGGAAATAACAGCTATTTCATTATGTGCAATGTGTTACACCCTTTCAAATGTAATAAACTCACAACAAAATTGAAACATAATACTTGATTATAACTTATTAAATGTCTTTTATGTTTTTCCTTTGTCAGGAAAACTTGAAAACTGTGCTTTTAATTGAAATAATATTGGATGAATGAAACTGAATTCAGTATTAAAATTTGACTGTTAGAAATGAAAAATAAAATGATTTAAAAATTTTGCCTGTGACTTATTTGATTTTTAAATTTTCTCCTAGATCCTGAGGAATTCTTGAATATTCTGTTTCATCATATTTTAAGGGTAGAACCTTTGCTAAAAATAAGGTAACCTTTAAATTGTTCTAGAAGCATTGGAAAAATAGACAATTCTCATTTCTACTGCCATTATTCAACAGACATGATTTCCAGAATGATTTCTTAATATTGTATTTGTTTAGGGCTCTTAATAGGCTAGGGGAATATCATGCAAGTTAATTTTATTTGTTGTCCTTGCCACAGTACCATAGTTTACTTGAAGATCAAATCCAATGTAAATTTATACTACAATTTTTAACCCTAGCGATAAGTATTATTGCAAATCATTTTCTTTTGAAACTGTATATATATTTTCATAATTTCAATTAATGAACCTTTTAAGAAAAAATATCTCATTCTAACTTAATCAGACACTTCAAGAAGACTGTTTTCTGTCTACTCATCACTCAAAAAATTTAGTCTTAAATTAGCTTTCCTGTTTTTAGTTGTATAACTTTGTCTCCCCTCCCCACCCACCATGTTGAATGAAAGCCTTGTTTAATGTAGTAAAGTTCTTAATGAAATGTTCTAAATGACTGAACGTTCCAGGTAGTTTGAATGTTCTCAGTCTAAACAATGGACCTTTTTACATTTTAGCTTGGGTTTCTCTGTTGAGAATCTTAGTAATATCCTATACACTTCCCTAAAAGCTAAGCATAGACGAGCACTCTTCCTCATCTCTGTGTCTTAAAGTGATATTGTTTGATGCCACTGTTGAACTGATGGGTGAGGAGAATAGAGGGAGGCTGGGTGGTGCCATGGCTGTGGTTTGATATTGTTTGGGAAGTTCTTATGAATGAAATGAGACTGATACATAACCATCAAGAGTTCATATTATCTGTTCAAAGATGATAATAGCCATATGTACACCTAAAAATCCTAGAGAATGGCCTAAAAATTACTACAATTAGCAAAATAATTCATAATTTGTCTATGTAAAATATCCATGGAAAAATCAATAGCATTTCTGTATACCTTCAAGCAAATATGAAAAAGTAATTTAATACTTCATGAAAGTATAAAATACCAAGAAATCAATTTTATTGAGATAGATTTTTTTTAAAAGACTTATACAGAGCTAAAAGGGTTTTGATTAATTAGTGAGAAAGATTACGTTCTGGGTAGGACAATTAAATAATTTAAAGATGATTACATAATAATTTGCACACAAGCAAGATCTTAACATACTTCAGGAAAGTGGATTTAGAGTTCTCTACAAAATGAAGTGGGAAAAAATCTTGAAGAATGCTTTTAAAATAGATTTCTATTATAAGCTACGAAGGCAAAGCAATAGACTTTAAAATAGTGTGTGATACTAGCATATGATTAGAAATATGGATCAATGGGGCCAAATAGAAAGCTCAGAAATAGAATTAACTGTATGTAGAATTTCAGTATCTTATAAGTCAACTTTCAAACAGAAATGGGAAAGGAAAGATATGTTTAATACATGATGTAGGAAACCTAGAAGGCACTTTGGGAGAAAAAAGTCAATTTGGTTTTTCATTTTAAAGAGATAAATTTCAGATGCTTAAAACAGTTGTTTTCATCGTTTTTACCCTTTTTCTAGCCTACACACTTATGGAATGTAATACACGCCCAGTAATAACATAGGTTGAATACTGAGTGATCCTCAGAGTGGGTAGGGAGGGATCAGGGCATCTCTGAATATATCTCAGAGTCTGAATGCCTTGTGGGACTTGAAAGGGCCCTGGGAAGTTCTTACACCCCCTGAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTT
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CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGCAGATTTTAGATTTTCAGTTTCTTATAAATTCCCTTTCCCATTTCCCTTGGTGGCTGTTTCACACTTCAGTATTAAAAGGATATTCTCTCTCAAAATTGTATATTCTGCTTTATAAAGTAAATGCTTTAATTTCCCAAGCAAATATTATTTAAAAAATCAGTCACAGCAAACCTAAAAATTTTTTATCTTAGTGTATGACAGTTACTTGTAGAGCATATAATAGTGTCTAGGATAATTCTGGTTCTAGATCTTTAATTTTGCAAACTTCAAGAAGAAGCTTATCATTGTTTTCTTCAAAAATAATTGTCTAACCTATTGATTTATGACATACTGGAGTTGTATAAGAAATGTGTTGGCCAGGTGTGGTGGCGCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATTAGCTGGATGTGGTGGTGCACGCCTGTAATTCCAGCTACTTTGGTGGCTGAGGCATGAGAATCTCTTGAGCCTGGAAGGCGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACACTCCAGCCTGAGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAGAAAAAAAGAAATATGTGATTAAGATGTGTTATATAATTTAATACATGCCAATATCAATTAATAGTTTTTTACTAACTTAGATATGGATATGTGTGTGCCACAAAAATTATGAAACTGAGGAAAATACTTGAAAAGGTGGAGGCTGCATCAGGATTTACCTCTGAAGAAAAAGGTGACCATCTTAACTTATATGCGTTAAAAATAACTGAAGAGCATATTCACATGTCAAAGTATTAGCTGAAATGTGTGTCTGTGTAGTTGGGGGGTTTTCTTTTAAATTAGAAATTTCTTTTTATGTGATATATGGTTAGCTCCTCTTTTTGTAAATTCTTCCTCTCTTCTAAAAGTGATTGATGATGTGGAATAATGAACTCCTTTAAGAAGCTGGCTGGTTCTAGTATATTAAATGCTTAAATAAAAAGTCCTTTCCTTTCCACCTAGCAATGATATTCTCAGTTGTTTCTCTCTTGTGGTGCAGAGTTGCATTGGGTTTTCTACATTTTCCCACTGAGTCTTCCCTGTTGTAAAAGGGAGTTAGAAAGCTGCTAACTAGGATTAAGTTTATAGTCAGGGAACAGTGTTATAATCTCTTCCTAGCTAATGGGCTTACTCAAAGATTCACCACCTGACTTTGAATTTGTCAGCAGCATACTGTAAACAGCTGTAATGTTCAGAGGCTTGCAGGAAAAAACAGAGCATACTTCAGATTGTACTCCATTTACCTTAACCCCTCCAAAGGAAATAACAGCTATTTCATTATGTGCAATGTGTTACACCCTTTCAAATGTAATAAACTCACAACAAAATTGAAACATAATACTTGATTATAACTTATTAAATGTCTTTTATGTTTTTCCTTTGTCAGGAAAACTTGAAAACTGTGCTTTTAATTGAAATAATATTGGATGAATGAAACTGAATTCAGTATTAAAATTTGACTGTTAGAAATGAAAAATAAAATGATTTAAAAATTTTGCCTGTGACTTATTTGATTTTTAAATTTTCTCCTAGATCCTGAGGAATTCTTGAATATTCTGTTTCATCATATTTTAAGGGTAGAACCTTTGCTAAAAATAAAGTAACCTTTAAATTGTTCTAGAAGCATTGGAAAAATAGACAATTCTCATTTCTACTGCCATTATTCAACAGACATGATTTCCAGAATGATTTCTTAATATTGTATTTGTTTAGGGCTCTTAATAGGCTAGGGGAATATCATGCAAGTTAATTTTATTTGTTGTCCTTGCCACAGTACCATAGTTTACTTGAAGATCAAATCCAATGTAAATTTATACTACAATTTTTAACCCTAGCGATAAGTATTATTGCAAATCATTTTCTTTTGAAACTGTATATATATTTTCATAATTTCAATTAATGAACCTTTTAAGAAAAAATATCTCATTCTAACTTAATCAGACACTTCAAGAAGACTGTTTTCTGTCTACTCATCACTCAAAAAATTTAGTCTTAAATTAGCTTTCCTGTTTTTAGTTGTATAACTTTGTCTCCCCTCCCCACCCACCATGTTGAATGAAAGCCTTGTTTAATGTAGTAAAGTTCTTAATGAAATGTTCTAAATGACTGAACGTTCCAGGTAGTTTGAATGTTCTCAGTCTAAACAATGGACCTTTTTACATTTTAGCTTGGGTTTCTCTGTTGAGAATCTTAGTAATATCCTATACACTTCCCTAAAAGCTAAGCATAGACGAGCACTCTTCCTCATCTCTGTGTCTTAAAGTGATATTGTTTGATGCCACTGTTGAACTGATGGGTGAGGAGAATAGAGGGAGGCTGGGTGGTGCCATGGCTGTGGTTTGATATTGTTTGGGAAGTTCTTATGAATGAAATGAGACTGATACATAACCATCAAGAGTTCATATTATCTGTTCAAAGATGATAATAGCCATATGTACACCTAAAAATCCTAGAGAATGGCCTAAAAATTACTACAATTAGCAAAATAATTCATAATTTGTCTATGTAAAATATCCATGGAAAAATCAATAGCATTTCTGTATACCTTCAAGCAAATATGAAAAAGTAATTTAATACTTCATGAAAGTATAAAATACCAAGAAATCAATTTTATTGAGATAGATTTTTTTTAAAAGACTTATACAGAGCTAAAAGGGTTTTGATTAATTAGTGAGAAAGATTACGTTCTGGGTAGGACAATTAAATAATTTAAAGATGATTACATAATAATTTGCACACAAGCAAGATCTTAACATACTTCAGGAAAGTGGATTTAGAGTTCTCTACAAAATGAAGTGGGAAAAAATCTTGAAGAATGCTTTTAAAATAGATTTCTATTATAAGCTACGAAGGCAAAGCAATAGACTTTAAAATAGTGTGTGATACTAGCATATGATTAGAAATATGGATCAATGGGGCCAAATAGAAAGCTCAGAAATAGAATTAACTGTATGTAGAATTTCAGTATCTTATAAGTCAACTTTCAAACAGAAATGGGAAAGGAAAGATATGTTTAATACATGATGTAGGAAACCTAGAAGGCACTTTGGGAGAAAAAAGTCAATTTGGTTTTTCATTTTAAAGAGATAAATTTCAGATGCTTAAAACAGTTGTTTTCATCGTTTTTACCCTTTTTCTAGCCTACACACTTATGGAATGTAATACACGCCCAGTAATAACATAGGTTGAATACTGAGTGATCCTCAGAGTGGGTAGGGAGGGATCAGGGCATCTCTGAATATATCTCAGAGTCTGAATGCCTTGTGGGACTTGAAAGGGCCCTGGGAAGTTCTTACACCCCCTGAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTT
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Task1_train_22615
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A change on Chromosome 16 affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
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GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAAC
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GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTGTGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAAC
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Task1_train_22616
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Located on Chromosome 16, this mutation impacts CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Brooke-Spiegler syndrome
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GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
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GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGGGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
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Task1_train_22617
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This alteration occurs within gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial multiple trichoepitheliomata
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GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGAGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
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GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGAGGAAAGTACCCAGAATGTTGCACAAAGGGATAAAGAGTTAGAAAACAAGAAAGAGAGGATAATAGACATGGAATATGGATTCTAACTGGAGTTCCAGAAGGAGATACTAGAGAGAATAGGGAAAAGGCAATGTTTCAACAGATAATAGCTGAATAAATTTTAGAATTTTTGATAGACTGAAATTCTAAGAATAAAAATATTCAGAATTTCTGAGCAGGAAGAACCAGGACTAAATTACCATTCAGAGACTTACTATAGGATGTACTTCAGTAAAACAAAACTGAGTTTAGAATAAAGGAGTGGGATGCAAGAAACAAGGGAAAGTCAAGAAATTAGTAAATTGTCTTCTCCATCCTCATTTCTGCCTTCTTTCCCTCAGTGTTTGCAATGCAGTGGTCCGTTCAACCACCAGCCCTCCTCCCCTGCTGCCATTATTATGATTACAACTACTTACCTCTACTACTTCCTGGTTTCTTATTTTCCTCTCTTATTTTTTTTTTCCTGTAAACTGTTAATTTTCTATGCTTTTTGGCTTTCACAGAAAAATTCTGGTCTTTTGTCATAGTCATCAACAACTGATTAAAACATTGGTATATCATAGCCTTCAGGTTTTTTGATTATCATCTGTTTGTATTTGTTGTGGGTCTCCAGAATCTCCTGTTTTGTTATCAATTAAATTTTGTTTATTTGGGGATATAAGTTGCTTTGGGAAGCTGAGAATTTTTGCAGGCTGATCTCTGAATAGCTGAGTTTTTTTTTTTTAAGTGAAAACTATGTTAATATTTTCTCCTAAAAATCTTAAAATCTAGATATAAGTTTAGATGTAAATAGTCTAACTTTATATCCAGAAATTCTGCTGAAAAGGTAAATAGTAAACTTAAGGATTATTAGTCCTTCTGGTAGAGTTAAAGACTAATGGCATGCTATAGTAAAATATTTAGGAGGAAAGATGCTCAAAATATAAGAGTAACACTGTGATTGGCATATGGTAGGTGCTTACTTGGTATTTGTTGAATAAATGAGTGACTATCAGACAGCATGCTTTAGCAGAAAGAATGGTAAGCAGTGGTTAGGGCCCCTAGATTCTTTACCCAGCTCTGCTTTTGACTTGCTGAGAAGTCATTCTCCTTCCCTAGATCTCAGCGCCTTCATTTTAGAAATGAAAAGTTCGATCTAGAAGGTCTGCTAAGGGTCTGTCACATCCAGCATATAATAATTTATTTTCAGGCATTAAATACAGTTTGCTGCTTTCTAGATTTGGGCAGTGAAGTTGCACTAAGTGATTTACCTTTTGGTTAGTTCTGTTCACACAGTGCTTCTTGATTGAGATTATTATTCCATTATTTTTTTCCTAATCACTAGGAGAACTTTCCAGTCTAAAAACTAAGCAAAATAAATCATTTATAAGGTCTTGTGCCTGAGCACATTTAATTATTTTATCCAAATCATTTATTTCTCTCTGTTGTTCTGACTATCCAAAGCTACACCATCAATTTTATGGTTTTTCTGTTCTCAAATACTGCTGGGACAACTTAACATTTTGATTTAAGCATTTGATAAATAGGTTGTATGTATTTTTTTCTCTGCGTGTTTTTAGATCAGCAGGTCAAAAGGTACAAGATTGTTACTTCTATCAAATTTTTATGGAAAAAAATGAGAAAGTTGGCGTTCCCACAATTCAGCAGTTGTTAGAATGGTCTTTTATCAACAGTAACCTGAAATTTGCAGGGGTTAGTGATACTCACCTGTGGTATTTTATGTGAAAGTCTGTGGGAGTCTTAAGACTATTGGTAGTTTCAGTATCTATTGATTTTAACTAGCTGAGAAAAGTTTGAAACACAAACTGTTAAGAAACACAAATTTTAAAAAGTATGCAGTGTTTCAACTTTGCCTTTACAGAAAATGTCTTAGAATTAAGATTGAATTTTTTGGATTTCTGCTGCCAAAGAAAACACCAAGCTAATCTGCGTAACTTGAAAACTTTTAGGTAGTTTAAAGCAAAAGGAGACTTACGTTTTTTAAAATGCCATTTTATGCAAGCATATTATCCAAATACATCAAAATATAATGTTTACTTCCCCCCTTCATTAAGAGACAAAATGTCAATAAATTCATTTATATTTGCTAATGAACCAGTGATAGAAATTATTTTTCTTTTATTGTCCAAGAATCTCAGTAATTTTAATAGTATATGCTTGTGGTTTATTTTGATTGTATTCATTTCTGAAGTCATTTTTGGTAAAACCTTAACAGCCACAGTTATTTATTTGTTGAAATATAATGAGTAGTATCCTTCTGTGATGACATTTTCTGTATTATATTTGCAAAAACAATCTGTCCAAAACCTTTAATAAATATAAACCCAAATAAAATGCCATGATTTTATTTGAGACTCAAGATTATTGAACTCTGTGACCTCTAGGTGCTGGTGTGCCCCTGCGATCATGAGCCACTTGAAGACTTGTGGCTTATTGGTGTCCTCTGTCCACAGCCCATGGTCACGTGTGGATCCTGTTTCATAGGACACCAATATTAAGGCAGAACTGTTTTGTTTGACAGCCATGACTATTTTGGTTTCATAGGGAAAAGTGTTTTTTTTAACACTTTGATTCTAAAAATATCTGTCTTTTTTATAGGCACCATCATGTCTGATTATTCAGATGCCTCGATTTGGAAAAGACTTTAAACTATTTAAAAAAATTTTTCCTTCTCTGGAATTAAATATAACAGATTTACTTGAAGACAGTAAGTATGAGATTTTTTTAGTTTGTTTTGTTGGTTTTGTGGAAATTGTCAGATAATTCTCATCAGTTGTGGGTTAGACTCTAACTGGACACAGTATTTCCCAAGGCAATTCAGTATCTGAAGAGCCTGGAAATATGAAACCAGTCATTTTATTTCTAGGAATTTATTCTGAGAAAACACAAATGAAAATAAATATTTGATATGCAAATATACTTATTATTATATGATTAAGAAATTAGAAACAACTTGAATGTTAACCAGAGGAGAATGGTTAAATGAGTGTGTATCTAACAATTAAACTACTGCCATTAAAATTCATGGTTTTGAAGACCAATGTGTATGAAATGGTCATGATGTAATATTAAGTGGAAAGGTAAGTACGTTGATATATTCTACAAAAGGAGCCATATACACACACACACACACACACACACACACACACATGCATATATACCTATGTAAATATTCAGTATGAAATTATTAGAGAAAATTCATAATCATATTGACAGTGGTTATCTTCTGCCAACTAAAATTGTAGATGCTTTTAGTTTTCTCCATTATACTTTCTTGTATCTTTGAATTTTCATCAATGGGTATTTTATAATGAAGGGAAAAATACTCTAGGAGACACTATTTAGAAAAACTATTTGGTCCAAAAAAATGTTTTTAAAGATATTTCAAATACTAACTGAGAGCTTAAGCAGATGGAAGAGAAAGAGACTTTTTTGAAGCCATGAACATTGTCCTTTTTAAAGCCTAACTTTTCTTTACATCTTCTTCATGAAAGAATGCATTTTTTTTAAAGTCCTCTTAACTTCCCTTCCCCTTCTCACATTTCAGCTCCCAGACAGTGCCGGATATGTGGAGGGCTTGCAATGTATGAGTGTAGAGAATGCTACGACGATCCGGACATCTCAGCTGGAAAAATCAAGCAGTTTTGTAAAACCTGCAACACTCAAGTGAGCTTCCCTTCACTTAATGGATAAACTTTTGTTGAACAGTAACTTATTTATAGTTGAAAACACAATGCT
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Task1_train_22618
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This alteration occurs within gene RPGRIP1L (RPGRIP1 like) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Joubert syndrome 7
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TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTT
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TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGGTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTT
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Task1_train_22619
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Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Joubert syndrome 7
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GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTT
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GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGGAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTT
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Task1_train_22620
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Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Joubert syndrome 7
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22621
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Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Joubert syndrome and related disorders
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22622
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The gene RPGRIP1L (RPGRIP1 like), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Meckel-Gruber syndrome
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22623
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Mutation context: Chromosome 16, Gene RPGRIP1L (RPGRIP1 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Familial aplasia of the vermis
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22624
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A variant affecting Chromosome 16, within the gene RPGRIP1L (RPGRIP1 like), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; COACH syndrome 3
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22625
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Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Joubert syndrome 7
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22626
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Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Meckel syndrome, type 5
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGTTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTTGATTTTCTTTATCAGATGTGCTCCTTTCCCAGTTTTCCCTATCTCAGTAAATGGCATCACTATTCTTCTAGCTGCTCATGCCAGAAATTCTTACTTCATCCATTTCCCTCATTATCACACATTCAAGTGATAAGCAAGTCTTGAAGGAGAAGTTAATAAAATATGTACTGAATATGACTACTTTTTATCGCCACTTTCATTACCATCTTAATCCAAGCCACCATCGTCTTTCCTTGATCAATACAATAGCCTGAGAACGGTCCTATTTTCCCTCTTGCCTGCTTCAGACTATTCTTTCCACAGCACTCAGGGTGATTTTTCTAAAAGCTCAGAAAATCCAAACTCCTCACTCTGACCTACAAGGCTCTGCAATATGATCTGGCCCCGCCTATCACTTGAATCCCCCCTTTGCTGCAGGCACTGGGCTTACTGCTGTTCCTCCCACTGTCAGGCTTGCTCCTCCCTCAGGTTTTTGCACTTGCTATTGCCTCTGCCTGAAACATTCTTTCCCTGGATCCTGGCATGGATCTTCATTCTTTACCCCCTCAGAGAAGCCCTTACCTGAATTTGCAACCTGCCATTTCTCCCTTTAGCCTCTTTCTCTGATTAACTGTTCTGTATTGCCTGTATTCCTCTCTAGAAGGTAAGCTACAGGGGGTAGTTTTGTCTGTCTTATTTACCACTGACCACCATATTCCCAGTGCCTACTAACAGTGATAACATAAGGTCTTAAAAAATTAATAATTTCATAAATAGCTTATATTATTATTTATAATAGTTATAACTATTAAACCATAAATAATTTAAACTATTATTATGAACTTAAATTACAGTTCAATACATAAATTAATTTATTTATAAATAAATTACATAATTTAGCCAAAAAGAGTATCAATACAATAAACATCTGAAGTTACAAGTTTTAAAAAATTAATAGCCATTGTACTGACATCATCAATGACATTTTTTTTTTGAGATGGAAGAGCGAAAGCTCTTGTTATCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGTAACCTCTGCCTCTCGGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCTGTATTTGTCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGCTTCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTAAAGGAGTGAGCCACTGTGCTCGGCATCAGTGACGTTTAAGATAGTCCAATTAACTGTGGGTAAAGAATGTTGTCCTTGCTCTAAAGGCACCTTTAATATACAAGAAAAGATAGTAATGTAGAGTACCATAACGATATATAAACCAAATTAGTAATTCAAACACCCAAGGCTTATACATTGTACTTACCAATCAAACTTGCTGTACAAAATATTCGGCCGCTTTTTTCAAGAATTTCGTGAAATTTTAATTGACATGCTGCAATTGTTTCATATTCTGTGCTATAAGCCTGGTGGACCTCAAGGGTGATAGTATTCTTCTGAATATATTGCAAAAATAAGTCATTAACATGAACAAGATATTGAGAAGTGAAGTTATATTCGGGATGAAGGCCTCGCACTACGGGAGTTGTCTGTAGTTCAAAATCATAGAAAGCATAGGTACAGAAAGTGACAGGCTCTTTATCTCCAGATGCCTGTAAAACTTCAGAAGAAAAGGGTACTTTGTTGATATGGATTTCAAATAGATTTTCGCCTCGTTCTAAGTGGATGGTTTCATCAAATTCATCAACAGAGTCATCTGGCATGATTTCTGGTTTAAATTTGTACTGCTTGGTGCCATAGGCAATATCCTTTAATTGGGCTGCAAGAGAAGACACACAGTTTAGAGATTTCAAAATATTGACATGAGAAAATGAAAACTGGCTTTTGAAGTGTAAGAATGAGTACTTCTGGTGAACAGTCTCTATTTTAAATTCTATGACTACACTGTTTTTCTGTAAATAATACTTTATCGTACAAAAATTTATCATTTCTGTTTTGACATCACTTATTAGGCAGCAACAAAATTGCAACTTCAGTTTTAATATAGCCTAAGCCAGGAAAAAGGGGAGAAAAATATCAAAAGAAGAAAAGCGCTCTTAATGAACAGCTGAGATAACTACCTGGATTTCACCTGCTTCCCTGTCTCTGCTCCACCCATTGTCTTCACTCCTATAAAGTCAGTCTCTCTTTCTGCTGCCTCCTTTCCTTTAACTTATTAAGATTTATACTTTTCTTCTTCGTGGGGTGATGGATAAGTTTATTATCCTGATCATGATGATGGTTTCACCGTTATATACAGAGGCCAACCAAATATCACCAACGTGAATATCTGCCTTGCTTTTCTGTGAAACTGCTCCAGAAAAAGCCAACAATAATCAATTAATTGCTAGACGCAATGAACGCTGGTCCTTGTATTACTTGATTTCTTTACTACATTTGACACTGATGACAATCTCCCATTAGTGAACTCTGTCTAACCTGGACTTCCATGTATGTCATCATCTTCTCTGCTTCTCCTCCTATCCTTCTTCTCATTCTTTTGGGATTTCTCTTCGTCTGCTAGTTTTCTGGGCTTCTGTTTTTAATTATTTTCTTAGTCTACATATTCTCATGAGTGATCTCATCAACTTTTATGACTTTTGTCATTATTAATATGCTAAAGGCTTCCATATTACTATTTTAAATTCATATTTATCTTCTCAACTCCATTCCTATATTTCTAAAGTTTTGTTTAACCCTCTATGTATCTAGATATCCCACACAACATATTCAAAACAGAATGTATCATACTGTCTTGTTTTTTTGTATGTTTTGAGACAGATTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGGAATCTCGGCTCACTGCAACCTCTGCTTCCCAGGTTCAAACGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACACTCGGCTAATTTTTAAAATATTTTTAGTAGATGGGGTTTTGCCATGTTGGCCATGCTGGTCTTGAACTCCTAGCCTCAAGTAATCCATCCGCCTTGGCTCTTCAGGTTAATAAGCTTCTACCTCATCAATCAGGGTGAAAACAGGGCCTTCACAATTTTGTTCCTTATAGCTTTCTCTCCAGGTTCTCCTCCTTTTTTTGACTTTCCTGAATTCCAGTTGGATGGATCTACAGTGCAGTTTCTCAAATGTACTGCAATACGTCATATTTAGGGCATCTTTCCCTGCTTTACTTACTGCCTGGAATGCCTTATATTACTTTTACTTAGTAGTGAATTCTGTCATCTTTAAAGACTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTT
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Task1_train_22627
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The variant affects gene RPGRIP1L (RPGRIP1 like), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Familial aplasia of the vermis
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CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACTGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
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CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACCGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
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Task1_train_22628
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A genomic change on Chromosome 16 affects RPGRIP1L (RPGRIP1 like). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Meckel-Gruber syndrome
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CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACTGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
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CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCCCAAACACTGTGACCTCCCTTTTAACCAAGAAAATTCCATTAAACAAATTTTTATTGAGTACTACTTGGAATAAAAGGTACACATTGCTCCTTGACTTTTGGAAAACCCTGCTTCGTCAGATAAAGATATTTATTGAGCTCTTCTGCCCAGATCAGAGTTTCTGAAAGTGTGGTTTGGAAACCCCTGATGGTCTCTGAAACCATTTTGGGGATCTGTGAGGTCACAACTATTTTTATAATAATGGTAAAGTGTAATCTGCCCTTTTCATTTTTATCCTCTCACAAGTGTATAATGGAGTTTCTTGGAGGTTACATGATGTGTGATATCACAACAGATTAAATGCAGAAGCAGATATAAAAATCCAGCTGTTTTCTATTAAGCCAGTCTCTAAGAAGATTTGCGAAATGTTAAAAATTTAAAAAATTTTAAACAATGTCCCTCTTCTTGAAGTATTTTTTTGTTTTGGAAAATATAACTTAAAAAAGGTACTTTAATTTATGTTAACACGCAATAAGTTTATTATTATTTTAACAAATTAAAAATATTTAAACATTTTTTTCACTTTTGTTATGATAAATATCAATTAAGTATAACTCATGAATAAAGGCCTTCTCGAACCTCAATAAGTTTTAAGAGTGTAAAATTACTGCTGGCATAGACCACTGAAGTAAATATGGTACGTAGTGGACGTGGACGTGAAAGAGAGACAAAGAACTTATCACTGTAGAACTTACATTTTGGTTATGGAGAATATGCAAAACTCCAACAGCTGAAGAACACTTATATGCTCCCCAAACTTACAGCTTCTGAGTGCATGAGAAGAAAACTGGGTTGGTAAGTGCTGAGCTAGTTTTTTTCAACATGTAGTCTTGCACCTCCATCTGAATAGCTTGCAGTTATTTCTAAATACAATATAAAAAAGCATGGGCCCCAGAACCTCTAGGGGTAGGGCCCAGGAAACTACATTTTAAACGAGTTCCTCAAGTGATTTTCCTACTTGCTAAAGTCTAAAAATCACTGTAAGGACATTTCAAGTAGAGGGATCGCTAGGAATAATTAGAACCAGCTTCCTAGCACAGGTGAGTATTATGTTAGGTTTCAAAGCAGGGAAGCGTGTATCTTGGAATCATGGTAGAAAGGAGGTTTAGGCAGAGCAAACAGCAAGAACAAAGGCATGGCAGTGGGCCTGAGCATGACATATCTGCAAAGAGCAGGTGGAGGACCTGTTTGGCTGAGGTGCACAGGTTGCTTAGAAGAGAAATTAAAAAGTGGTAGTAAATTTGAGTTTGTAGTAATTTATGAAGTAATTTGAAATCTTGCTTGCAACACTGAATTTAAAAAGCAGTAGGGAATTACTAAAAATTCTTGAGTAGAAAAGAATCAAGGCTTGGTGCAGTGTCTCACGCCTGTAATCCCAATACTTTGAGAGGCCGAGGCGGGAGGACGATTTGAGCCCAGGAGTTTGAGATGAGCCTGGGCAACATAGGCTCTACAAAAAAATTAAAAATTAGGAATACTGCTGGAACCCAGGAGGTCAAAGCTGCATTCATGAGCTAGCTATGAATTAGGCGTAAACACAGCAAAAATACACTGTAAGTGCAGATTTGGATGACATTATCAACTGTTATAAAATCCATTCCTCTAGTTACTGTGGACCAAAAAATCGTATATGTTGTACCTTCTAGTTTATGGATACGTGCAGCCCTGATATCAAGAAGATGAACATACCGTTCCACTTTGAGTTCATAATCTTGCTGCAAATTTTCCATCTTACGGGTCACTGCCTCAACCTCCATCTACAAAATAAGGGAAAATAAGTTTTAATACTTATGATTAGTTCTATTTTCATTATTCAAAGCAACTATGATTCAAGCATTTTCTAGATCCTGGAAATAGTAGGAGCTATGAACCATGGTTTCCTGACCTCAAGTAGCTTACACTTTAGAAAATTATGCTTGGCAATATTCACAAATCAGAAGAAAGATAAAACTCCAGATTCCCTTTTATGGAGATGTGTTTTCATTTTGTTAAAAGCTAAGACAATACAGTTATGGCATGACTTCAGGATAACTATAACTCACTCGCAGAATGTGCTAAAGCTAACAAAGGTGATTTCATTGCCACTACTCATTCCCTAAAATCAGGGACTTTAAAAACATTATTTGTGGCAGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGAGTTAGAGACCAGTCTGGCTAACATGGTGAATCCCCATCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCACGATTGCGCCACTGGATTCCAGCCTGGGTGACAACAGCAAAACTCTGTCTCAAAAAAAAAACCAAAAAAACCCCACATTATTTGTTTTAAAACTATTTATTCTAACTAAGTACCTAGTTATAAGGCTACATTCCAGAGATGTGATATGTTAGTAGATTACAATAGATGTTAATAGATAACAGGTGATAACATACAGTATTTAGAAAATAAATCATCAGAATATTATAGAAAACTTACTTTCCCCATTTAGTGTATTACATTACCTGATAATCTTTATTAATTTTGTGTTGCATAATTAGCATGTTTCTTGTCTTTTCCAGCTCTTGCACCGTTTCTGCATGAGTTGCTTGCAGCTCTCTCATAGAGCGTTCTAGATCTTTATTAATTTCACTATCTACTTTCACTAAAAAGGAAAGGTCTCCATTTTTTTGTTCTTTTTGAGCCTAAAATAAAAAACATGTTTTATGACTGAAACAAAAATTTCTAAGATGTGATTTTATGAATTAATATAGATGTATCAATAAATAATTCATTGATTGATCAATTTTCAATTTCATTAATTGAAAACAGACAAAGGAAGTCCTGATATATATATCAGGACTGCTTCATTCCTGATGGAAAAAATGAAATTTACCTGTTAATCAAATTTGAATATTTGGATAGACAATTGGAACAGTTATAGAGAAATCAAAAAATAGTTACTTTATGACATATAAAAGAATCATGTACATTTATTTTTATTTCATTTGATTAAAATCTATGCTGTGATGTAAAAGAAGTGTTTTTTTGTGTCTTATAAATAACAGAATATTCTAGAATTAAAAATTATCTTCTTGAGATATTTATAATTCAATATTTTACTTAGGGTGTGCATCAAGGTCTCTTAGGGCAGAAAATCGATGAGTTAAATAGTGAAGCAGATAAAAGTAAAACGTTTGTTATAATTAAAGAAAGTGCTTTAAATGAGAGTTTTTGAGGTCTGGTTTAATGTAACTTTGATGTCATTATGAAATATGTATATGCTATAACTAAATGTCACCTGATCACTTTCCTGAGTCTTAGTAGTGTTGACATGTTACATACATATTTGTAAAGGATGTACTAAGTTTCAGAAGATGCAAGAATAATTCATTCTCCAAATGTAAGGGTTACAGATAAGGGTCATCATTATGCTGAAACAGTTGTATGCAGACATGAAAATCACGATGAAGTTCAGAACCTTACCTTTATAAGTAGGAGAGCTTCACTCAATTCATCAGCATTAATATCATTCTCCTGCAATAGATTAAGTAAAAGCTCACAATGAGTTATGAATGGAAAATACAAGAGACATTCCAAGTATTCAAATTATCCCCATGAAACATAAACTGACTGATGCCA
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Task1_train_22629
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This sequence variant lies in FTO (FTO alpha-ketoglutarate dependent dioxygenase) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Lethal polymalformative syndrome, Boissel type
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CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTT
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CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCAGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTT
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Task1_train_22630
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Mutation context: Chromosome 16, Gene FTO (FTO alpha-ketoglutarate dependent dioxygenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Lethal polymalformative syndrome, Boissel type
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CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTCCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTTTGCCATATT
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CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTGCAGTGATGCTTTCCTAAGGATTTTCTAGTATCTCATGTAGTGGGAGCCATTTTGGCTGCTGGGATCATAGAATACTCCTGGCTGTGTGTGAAATCTGAAATTGGTTCCACCTGCTGCATTCTGGTGCTTCTTTTTTTGGCCCTTGGGAAATTTTTATTCATACATGCACAGGTCAGTGCTCTTCCAAATACTTGAGGGAACCTTCCTGCAGTCTGTTTGCTGTCTCTCTGTATAGCTGTTTCTGTTCCAGCATTCTGCCTTTCGAGGCCCTGTGGCCTTGGCCTCCCTATACTCCAGTCTTTGTCTTCTCAACTTGGCAAGAAAGAAACAGAGACTCTGGGTTTTGACTTCCTCTTCTCTATTCTGTGGCATTGAAACTGTTTCCATGGAGTAAGTTAGGGCAATTGTAGGCATCTCTCACCTATTTTGTTTCTCTTCTCCATGGGATTATATCTTGCTGAAACCTTTGATTCATATTTTTGGCTTGTTTTGTAGTTGTTTAAGACAGAAGGGTAAATCTTGTCACTGTTACTTCACAATATTCATAAGCAGAAATCCTGTCTTAATATCTTGCATTTCTTTTCTATGTTTAGAGATGATATTGTAGGTTGTTTTTGCTGATACATAAGGGGCCTGGTGGCATTTGCCTCTTGGTTTAAGTCATTATCTTTTTTGGTATCTTGATAAAAATCTTGTGTTGCCTGTATAGGATGCCATTGCTGGAAACATTACAACTCTCTTTTTTTGTAATAGAGGAAGTCATGTCCTGAGCAGAGGTTGTATAGATTTTGCCTGACTTGTGGTATCATTTCTTAGGATATATAACAACTTGGTCATTGGTTTTTCTCCCACTGCTTGTGGTTTTAGGAATATTCTTCAACTGATGAATTCACCACCTACTTCATTCTTGGGTTGTGAATCCCTACACTTGAGTTCTGTTCTAAGAGCCAAACATGCAACATGCTGAGTTGGTTGGTTTATTGCCTGGAAAATTGTTAGGGCAAAATTGATACTTTGATTATGGAGGGAAAGAGGCAGATTTTTCAGATGAAAGGTGTGCAACTCCAAATTCTGGTTTATTCTAAAGATAAGGGTAGAAGTAGATGTGTCATGAGAAAGTGAAAGAAGCTCAATTCATATATAGTGAATTTTATAGTGGGTGGGCATAATAGGACCACAAATAAGTAGAGTGACCCTATATCTCATTTGCTGAGGACAGTCCTGGTTTATACTTGTTGTTCTGGAATAATTGTTAATAGCATCCCCTTTCACTCTTCAAAGTGTCATACTTTGTATGATAGAATATATACATATTTAGTTATATACATATGATTATATATATCTACTTATATATACTTGCATATGTATAAGTATATATAAGTATATCATATTTATTGTATACTTATATTTATATTATTATACTTGTTATGTATCTACATATATATAATGTCTACTTATAAGTAGATACGCATATAATGGAATATATATATATGTAGTCACCTACTTATAAGGGATTGATTAAAGAATACAAGGTAAGTATTGATTCCTTGGTTATTGTTATTTCTTGGAAGATAGATTTACTGTTTACTTTGTGTTTTAGTTAAATAATATATAGTATATACTGACTAATAAATATGGTTTTATACATTTCTGGTGTTTTTCCTGTAGATGATCTCAATGCCACCCACCAACACTGTGTTTTGGCCGGTTCACAACCTCGGTTTAGTTTCACCCACCGAGTGGCAGAGGTAAGTGTAAATAAAAATGTGATTCACACCTAATTGGATGTGACAGAAGTGGTTGAATGAGCAATTTACTATAGAGCTTTGGAAGAGTATTTGATGGGAAAATTGCTTCCATCTAACTTGACTTTCGTCTCTGTTTACTTGCTTTTTGAGCTTTGGATTGTGTTGGATACAGTTTTAGAAAGCATATTCATGCCATGGGATAAGTGTGTTTTGCTTCTTGGGGTTATGTTTCTTGGAGAAGGAAAATGCCGTTGACAAGTGTTTATAGTTAGAGGTTTATTTAGAGGGTTGTATCTGTCAAGGTCAAGGGCAGGAGATGACCAGAAGAATTGGGGCAGATTTTTATGCTTGTGCATGTGTTAGCTGTGGCTGGGTTCAGATGTTGAGAATTTTCATTTCCCTTAACTTTTTGGTCAGACTTCTGGGCATGTGAATGTAAAGAGAAAGTTACAGGGTTGCCAAGGAGTTTCTGAGCTCCACAGTTGTGTTCATAACCCAGACTTTATTGCTAAATTCTGCCACCACTTGCAATGGCCCATGGTTAGCTGTTCAGACTAGTTCAGAATGGAAAACTAAGAAATGAGAAAAACTCATATTAGTCATGTTGGGGTCCCATGTACTCAGTTAAGAGGGGTTCCAGAGAGCAAGGCATGAAAGGGATTACAAGTGACCTTCTACCTAAGCTTGCTATCCATGCTTTGCTTTATAGCTTGACCTTTCATGGAACTACAGGGGACAAGTGTGAGAAAATTGGGCGGAAGTGGTACAACAAAGTGAGAGGTACAGGTGCAAGGTCTTCCAGTGGCAGTACTGCGTGAGTCTATACGGCAGTGTTGTGTCTTTTGGTCATTAAGTAGCTTTACCAGTGGAACGATCATATTGCTGTGTGGCAGAGAGAGAATGAATGAGTATTTAAACCAAGATGCCAGCAAGCCCATCCAGCACCTCTTTCTTCCTTTCTCCCCTTTCTTCTCTTTTCCATTCACTCATTCATTTAAATATTTGAGTGCCTGTTATGTGTCCAAAACTGTAGGCCTGGGAGATAGAGCCGTCAACATGCCCATGATGCCCACCACTTTTGTGAACTTTAGTTGGGGGGGACAAATTTTAAACAAATAAACACAGAAATAATTGTCTTAGAGACCTAAAGGGAGTTCTGTTAGAAAAGAGGGAAGCGAGGGAGGAAGGTAGGTAAGGACGAACAGAGGAAGAAAAGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGGAGGAAGGGAGGAGCAAGTATTTATAGAGCATCTAATATGTGCCTTGTATTATACACAAGGATTTCATTTCCCCAGTTATAGGCATCTGTCTTTCTAGCTATAACCCTCCTAAGAATCCCTTTCTTGTGGATCACTTGAGTATATGGCTACTTAAGTGCGCCCTTCTACGTCTTTCCTAATCTAATCCAGAAGAGTGGACAGTCTCATTAGTGCTGGGTTCAAAGGGCTGTACAAAATGATAAATAAAAAGCTTGGGAAATATGTTCATGGGGATAAGAATCGTACCTAATCGTAGTGTTCTTATGAGGATTAAATTAGTTAATACATGTAAGTCTTTTTAGAACAGTGACTGGTATACATTCAAAGAAGTTTGCCACTACTATTATTAAATTACTTCTACTGCTACTACTGTCTTTTCATTTTATTCTGTTGAAAAACTAATAGGAGATGGGAACAACTAAAGTTCACTGTGTGGAAGGTTATTCTGTCTTCATTTGTACACTACAGTGTACATAATAAAGCAAGAGAGATTAAATCATCAGCAAGTTTTGATTGTAGGAACTACTATTCAGAAGGGATTTCAGTTTGTTCTCTCTTCAAACTTTTATTGAACTTTATAGTGTTCAAGGTATTCTTGTAGGGACTTGTGAACAGGAATGGTTATATTCAGTGTCTTCAAGATGCTTATGGTCTAAAGAGTATGTACAGTGCAGAATAGAATGTAGCAGATAGCCCGGCTAAATTTTGTATTTTTAATGGAGATGGGGCTTTGCCATATT
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Task1_train_22631
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This sequence variant lies in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Craniofacial dysplasia - osteopenia syndrome
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GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCT
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GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGCCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCT
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Task1_train_22632
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Given this context: Chromosome 16, gene IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Craniofacial dysplasia - osteopenia syndrome
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CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCT
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CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAAAGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCT
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Task1_train_22633
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A mutation found in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Craniofacial dysplasia - osteopenia syndrome
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GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCTGGTGA
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GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGCCGGAGGCGCGCGGGAAGCCAGCGAGGAGGCGCCGCGGGCCGGAGCCCCGGAGCCGGGGCCAGAGGAGCGGCGGCCCAGGGCAGCCAGAGGCCAGGTGCCCGCCCGCTCGCCCTCGCAGGGCGCCGCCCGGCTCGTTGGCGGCCGCGGCGCGGCGCGCCCCATGCCCGTGTGTGGCCATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGCCCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCTTCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGCTACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCCTCGTACGTGGTAAGTGAGCGGGATCCGCGGCGGGCGAGGGGCAGCAGGGGCCGGGCGGGAGGACGGGGGCGGAGGGGGACACGGGCCTAGGCGCCAACACCGACCTCCCCCGCCAAGCTTCGCGGCCCCTTCAAACTTGGGCGATTGTCTCCGCCAGCTTCGCCCAGGCCTTGGACTCAAGAGTTGCTCGCAAAAGAGAGCCGCGTCTTGCTCGGATCGCTGAGCTGGCGGGAAGGGGTTCTGTGGGGAGAGGTAGCTGCAATTAAAGAGCAGCATTTGGTGTAAACGTAAGCTCCGGGCTGCCCTGCAAATTTTATATTTTTGGTTTTGCCATTTTGGAAAAGTAGTTCAAAAGAAATAGACTCGAAATTTGAGCAGAAGCGTGCTAAGTCTATGTAAATGTGTTTGGCCTAGCCTTTAATTAGTCCTCCAAAATGTTGCAAATCCGTAATCCTATCTTCGCAATCCGATTTGGGAGTATTAAATTTCTGAAAAGTCGGTCGAGCTGCGGTGCATCCGGGATTTTTCGGCCGGGTTGTAACTTCGGTCTGGGGTAGTATTTTTGGAGGGTGGGAGTGCGTGGGCATGGCTCAGCTTTTTGTTTGCATTTCTTAGCTGTTGAAAAAAGAAAAAAAGAGCCTTGACTTCCCTTGTTTTCCCCCCTTGCGCCCAACGTGCGTCCGCTCCCCCGCCGAGCGCGGAGTCGCCTCAGTTGCCCAGGCCTCTATCTGCATGGAGGGCCGGGCCGCCGTGGCCAGATCTGCGCACGGGGTACGGACGTGCCCGGGCAGATGGGGGCCTACGGGGTGACACCGAGGCCGGGACAGCTTCAGGGGCCCCAGAAGGACCTGACCCAGAAATTGAGGTCCCCGCTGCCTTCTGAGGAGGGGGAGGAGTTGCTCCTAGGTCTGAACCCCGCCAGCCTTGCCCCGTAGGAAGCTGGAGTGCGGGCCTCGTCCACCCACAGACCCCGGGGAGCGCAGGGAAAAGGGTGCTTCGGTCGTTCCGATGGCAGTGGAGACCACGGTCCACACTCACCTCTCTGCGTCTCCACCGCAGGGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCATCCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCCACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTACCCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTGTCCACCTGGTTCGCCAACGCGCACCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACGCCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGACGAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAGGTTGGTGGACATGGGAAAGGGCGTGTTGGGCGGGAGTAAAAAGGAAAAGAGAGGCCTGGAGGGGGCGCGCACGGGGCCTGGAGGTTGGGGGCAGGGGTCCCTGCCTTTGCGGGCGGGAACCGGGTCCCGCCGCGCGGCCTCTGCGCCCCTGACAGCCTGGGTTTCGCCCGCAGGAGGAGCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGCAAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGCCTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCGGCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCGCATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCGCCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATCGCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCACCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCGGCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGGCCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACACCTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAATGGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTGCGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATGTCCGACATTTAACGCGGGCTGCGTCGGTCCCGGACTTTTCTAATTTATTAAAAACATGGCCTTGGCAGTTATTTTTCCATCACCGAGAGAGAGAGACAGAGAGAGAAAATAAACTACCCCTCCTATTCAGAAGTTTATAGTTTATGGAGATGGATGACATAAAAATGTAAACATCTCCACACAAAAAAAAAAATGTCTTAACCAACCGAAAAGAAAAATTAAAAAAGGATTTGTATTAAATCTTATTCTGTATATTTAATGTAGCATTTTTGTATTTAAATTGATAATTCAATATCTTTGAAGTAAATTATGAAATCAAGACACCTGTACAGGCATTTAATGTTTTTTTGTAATATAAATATATACATTTGTGTTTCCCCCAAAACTGTTTCATAGTTAAAAAATACAAGTTTAATTTAATTTTTTACACCTATTGATTCTGCTGGGTATGAGCTAAAGTATTACAGAAAGGAAACAGGTTATACTCTTAGATTTAAAAAGTGAAAGAAACTGCAGGCGCCTTTGTAAAATGCAAAATATTTAATTAAAAGAGATTTTAACATAATGAGAGCCACTCATTACTTTTTAGAAGCCTCAATAAACTGTCCATTGCCTTGGTCAAAAGGTGCAAACTGCAACTTTTTTCAAAGTGGGGATTGAAAGGTTCCACAGACCTTCAAGTGTACCAGGGGAAAACCATAATTAGGCTGCAAGCCCCGGGGAACCTGGCCCTGCCCAGAATGCAGATCTGGATCACTGATGCGGGCTGTTTGGGAGAGATTGGACCCTGGAGGAAGGAGAAGAGAGACCCAAGTGTGTGCCCAGAAGGGAGAAAAGATGGCAAAGCCAGCTAGGGACACGCACCACTCGAGCGCCATCGCTTAACCTAATTACTTCCAATCAGTGTCGTGTTTTATGCAAAGCAATCAGCTGGTGA
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Task1_train_22634
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A variant found in Chromosome 16 affects MMP2 (matrix metallopeptidase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Multicentric osteolysis nodulosis arthropathy spectrum
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CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTG
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CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCATGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTG
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Task1_train_22635
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The gene MMP2 (matrix metallopeptidase 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy
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TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTGT
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TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACTGTCACAGCGCTGGTGGGAGTGTCTAATGTATTTAACATGCTAATACATTATAATTAGCATATAATGAGCAGTGAGGACGACTAGAGGTCACTTTCATTGCAGTCTTGGTTTGGGTGGGCTTTCTCCAGCTTCTTTACTGCATCCTGTTTTATCATAGGGGTCTTTGTGACCCGAACTGTATATGGTGAAATCAGTCCTACCAACCTCCTGTCTCATTCTGTGACTAAGAATGCATGCCTGCCCTCCTGGGAATGAAGCACAGCAGGTCTCAGCCTCATCTTACCCAGCCCCCCACTCAAGATGGAGGTGCCTGGTTTGAACACCTCTGACAAATGGAAGTCTGTGTTGTCCAGAGGCAATGCAGTGGGGGCTTAAGAAGATAACTCTGGACTTAGACCGCTTGGCTTCAAATCAAAGAGTGCATGAACCAACCAGCTGGCCTAGTGATGATGTTAGGCAAGTGACTTCTCAGTTTCTTCATCTGCAAACTGGGAAATTTCCTATCTCAGGGTTAAAAGAGAGGTAATCTTAGGTGCTTACCTAGCACATGGTAAGTACTCAATAAGCACTAGCCATTATTCTATTATATTATTATTATTGTTATGTCCTCCATTTCCCCTTTCCTAACTACTTCCAACAAGGCTAGGACCGTTGTCAGAAGATCTCCTGGCTCCTTTCAACATTCTAACACAGTACTTATCACATACTTCATTTTGTTTTATTTGGGATCTATCAGCCTCCCTGCTAGGATTTGAACCTTAGAGACAGAATTGTCTATCTTTTTCACCTGTTTTTCCTCAGCAGTAGCACTGGGCTTGGTACATGGTAGGTATTAAAAAGTATTTGTTGAATAAATAAATGAGTCGGTTGCTCCCTGAACCTCTGCAGGGACCTGCTCAGTTTGGGCCTCAGTTTGGGCAGGGCCAGTTGTATGACTCATGAAGGACAGGACTACTTTCTTTTTGCAAATGGCTGATTCAGGATTTAAACCCAGGTCTGTCTACTGCCAGAGCCCATGCACATAGTCCTTGAATCTCTTTAGAAGAAAACAGGAGGAAAAAAGTCCCCAAGTCACCAGCCGCAAGGTAGATAAATGAGTTGATAGAGGTAAAGGAAGGATGCTGGAGTATAATGATTCCATATCACAGCCTCTGGAGCCAGATTGCTTTGTCCCAAATCCAGATCTACCATTTGTGAACTGTGTGATCGTAAGCAAGTTTCTTAACCTCTCTGTGCTTCAGTTTCCTCCTCTGTATAATAGGGTTAGTATATCTACATTACAGAGTTTTGAGCATTAAATGAGTTAACATATTCTGACTTTAGTGCCTGGACATATAGTCAGCACCCAGCACCAACAAGTGGTAGCCATGCTCTCTATAGCTGTATGTCCTGTCGCTCAACTAATGGGTGACCGTGCTGGTTTGGGAACCCAGTACTCCACCCAGTGCTCTGGGACCCCTGGCTTATTTCCTGTCTGGACTATGGCACTGGGTTGGGGGGCTGATTGCTACAGCCTGCTTTGGTCAGTACTGTGCCATCCTAATGTGGCTAATTGCCTTGGGGGTGTGCATTTCTTTCAGCAATACCTGAACACCTTCTATGGCTGCCCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTCTTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCACACTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGACAAGAACCAGATCACATACAGGTGCCGGGGCAGGGCTTGGGGAGGCAGGGCCATGGGGCTGAGGGACACGAGTCTCCTTGACCCATGCATTCTCTCCACTCAGGGGATCCATGAGGTGTCTTTTGTGAAGGCTTGACATCTTAGGGAGTTTCAATACACAGTTCTTAGAAAATGAAGTCAGACAGACTTGAGTTTCATACTTGCTGGCCATGAGACATTGGGTTACTTTTCAGTGCTGTGAATGTTGGCTTTCCAATCTACAAAATGGGGCTTAAAAAATGCCCTTATATGGTATGTTGGGGAACTAAGCTAGGCTGAACTAATACAAACGGCTTCTATGATTTTTGACACAGAGCAAGAGTGTAGTAATGCTAGTCATTGTTATTGTTTTTAGATGAGGTCATTGGGATGGGCAGAAGGAACGTGATGATTGGTAGCTAATTGGGTTTAGCAGCCCAATTGGGTTATAACTGGTTGCTAATTGGGCCAAGAGCTGTGCTCTGTATGGGTGGTGCTGGGTTCCAATGGTGGGATCTTTGCCCTGTGCCCCATAATGCACTACTTATGGCCCTCCCCCACCAGCCAGAAGTGACAGATGGAACTCCTGAGCTGGGGCCTAAAAATGTTGGCTGGCCTGGGACTCCCTGGGTCTTCAAGGCATTCTGGGAGGGTTGTCCTTGGCAGTGAGCCCTGCCCAGCCTACACACACATACACGCAGGCACATGCTCACATATACATACACATACCTGTGCACCCTTCCCGTGCTTGTGCATATACTTGTATGTTCACATACACACACACACTCAAACTTTTTCATACATCTGTGCACACACACATACTTGCATATACATACACTTATGCACATGCATACACACTCACATGCAGTTCTACCACCTCCAGGATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTGGATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCTCGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGGGTAGGCAGAAGATGGGGCAGAAGAGGGGCCAGCAGGGATCAGTGTTGAGACGAGGGGGTGAGATGGACATTAGAGGGGCGTGGGGATCCTAAGGGCGGCTTAGATAGGACAGTAGATGGTGTGGGCCCTGGGGGTGGTTTAGATGGGGGCAGCACAACACGGAGTGGACACTGGAGAGCCACGTTGACATGGGGGCAGATGGTGTGTTGTGGTATAACCTGGAGGCCGTCTAAACCCGAAGCAAGTGGTCTACTGTGCTGTCCAATATGGCAGCCATTAGGCAGAATATACATGGCTGTTTAAATTTAAATTAGTTAAAAATTTTAAATTAGTTTCCTGGTCACACTGGGCACATTTTAAGTGCTCAAAAGACACAGGAGGCTAGTGACTATTGATTTTGGACAGCACAGACAAAGAATATTCCTCTTAATCACAGAAAGCTCTGTTGGATGATGCTGGTAGACACTGAGGAACTGTAGATATATGAGAGTGGTTTGGAAACAGTGGAGCAGTGTAGACACTAGAGGAAGGGTCGTAGAACCTGGGGCCAGGTGGCCATGTGAGTTTATGGTGTGAACACTGCCAGTAGCACAGACATAAAGGTATGTGGTATAGACACTGAGTGGTAAGTGATGAAGGTAAAGAGCAGGGGAAACAATGTAGACAAGTGGGTGGGTGGTACAGGCCTTGGTGACAAGGTGGGCATGAGGATTCATGTTGCAGATATTGGTGATAGTGTGACATGAAGGCAGGATTGTGGTTAAGAGGGCAGTATTGACAGGATGGAGGATGGCATAGACACTGGGGATGATGAAGATGGGGTGAGGACACTAGTGTGGTAATGTGGGTATGTGGTACATATAGTGTCATGGTGGTAGAGTAGACAATGGAGGTAGAGGGTATGGATACTGGGAGTCATGTAAACCTGGGAGAGCAGTGT
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Task1_train_22636
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Given this variant in gene MMP2 (matrix metallopeptidase 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy
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AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCCTTCCTGAGGGGTCACTGCTCTTGTCTTCCCCTTCAGCCACCCTCCAGGCGGGCTTGTGACTACCAAAATTGGCTGAATTCTGAGCACAGATTACCAGAGAGACAATTCTCCTAAGAGACATTCCCACTGCACAAAGAGGTGCCTTCAAGGAGCTGGTAGGCAGTAGAAGAAAGGAAAAAAGGAAGAGCCTCATGCTTGATCTGACACCATGGTCCACGCAGCCCTGGGGGAGCCCCCAGAGCCCTCTCTCCCCCATCAGTCAGCACCATCTGTTACCAGGGTGTAAATGGTGGGTCCTCGTCAGTCCTGGGTGCTGAGGATGGAGCTGACTGGGACAGCTCTCTGCCCCCTAGGACTCACAAGCTCAGGGGAGAGAGTGACCAGGAGACAGCTTGTGACCTTACTATGTGCTCAGTGCAGTGAGCAGGGTGCTTGGGGCCCTGTGCCCAATCTAGGCTACAGAGCCCAGGGTTGCAGGGTTGCTTAAAGCTCCCTGATGGCCCATAATGGCCAGGTCAGTGGGCAGGTCCAGGGCCTGTCAGAATTAGGCAAGCCTGTCTTTATGTTGCTTTCATTCTTTTTAATCATCATGAGATGGAACTTGGCAGATGTCAGTGGACAGAGGCTGGCCAAAGGAGGTTTTCTTATCCCCTGCTAAATTCCTTGCTAGGACACAGTCTGATTTTACCAGCTTAAAGGTGGGATTCTCCACCTTCCTGAGTGGTTCAAGTATCCAGAGCTCAGTGGCTCACCCAGGGTGAATATTATAGTCTCCTGGGGCTGCCATGACAAAGTGCCACAAACTGATGGCTTGAAACAAACCCCATGTATTCTTTCATGCTTCTGGAGGCTGGAAGTCTAAAATCACGGCGTCAGTAAGGCCATGTTCCCTCTGAAGGATGCGTCACTCCAGTCTATGCCTCTGTCATGACATGGATGGCCTTCTTCCCCCTCTGCTTGCCTCTCCTCCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGCCCAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTATTTCCAAATAAGTTCACATTCACAGGTCCCTAGGGTTAAGACTTGGGCAAATCTTTTCTGGGGGGACGCATTTAACCACAACAGGGTGTGACACAGGTTTTGCTCGCTGGCTGTGGCTCAGCCTGTGCAACCACGCTAAGTGTGAAAGGTTTTTACTGCTTTCACCTGGGCAGAAATGGTGGCAACATGGGGCCAGCCTATCCCCACTCTTCTTACCTCTTCAGAGAGGCTGAGGAGCTGGGTTTGTAGAGCTCATCTTTTATAGAGAGACATAAAAAGCCAGGAAGCAGGATTTTAAAATGAATGGGGTTTTAAGTAGAAAATTCGCAGATACTACTTGTTCTGTTCCTTTATAGCACACCTGTCCTGATACTGACTTGGAAAGAGACAAGAAGACTTTGGCTGACCCCACTTGGAAACAATAGGCACTAATCCCAAAATTGTGTATTGATCCCAGAATTCTCAGGAAAAGAAAAAAAAAATCAATACATGCCGCTTCCAGGGTTCTCAGCCTTACTGTGGGGCTGTCCTCAAAAGTCTGCATCACTGGGTCAGGTCTTGACTTCTCTCTCATCTCTCTTCCTGTCTTTCAACCCTCTCTCCTCCCTGCAACCCTCAGGGTACAGCCTGTTCCTCGTGGCAGCCCACGAGTTTGGCCACGCCATGGGGCTGGAGCACTCCCAAGACCCTGGGGCCCTGATGGCACCCATTTACACCTACACCAAGAACTTCCGTCTGTCCCAGGATGACATCAAGGGCATTCAGGAGCTCTATGGTAAACCTCCGGGCGGGGGTTGGGGGTGGAGGGTGAGGAGGGGGGAGGTCATGTAGCCTGGGATGGAGGCCCAGGGGGTGGGACCAGCAAGATCTCATCCAGCCAGGAGTGCTGGAGACGAGGGCAGGAAATGGGAGTGTTGACCTGGTCTTGGGAAGGCAGAGCAGCTCTCCAAGGGGATACTTGGATAACTCTTCCCTATCCGAACAATGCTAATATCCATGTCACTCTTAGCGCTCCATTTCTGGGTTTCTCCCATTTTCTAGGTGAGTAAGGTCACCTGGTGCAAGGTTACACAGGTTTGAGCAACCCAGTGGAGTTTAGAATCCAGGAGAATAGCCAAGTACAGGACAGAATTTTCCATCATGTGGAATGACCTTAACAATACGGGGGTGGAAGTTTCTAGTTTTCATAATAAGCTTTGATTTTTAGTATGTAGTAGAAACAGAACAACCAGTGCCTTAAGCCAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGTTGGTTCTTACAGTGAGGCTAGAGTTTAAAAAGTCAGTTCATTTTTAAAAAATATTTAATGGTCCAGGTGATATCTGAGCCAGGCCAAAATAGTGAAAGTGGTGCTTGAGTGATGAAGTTTGGGGACTGCTAGACTCAGGAAAAAGCCCAAGGTCTGCCGTGAGGGGTGCTGGGTTCAAATGTGGCCTCTGCCCTTCACTAGCTGCAAGATATTGTGTAAGTCTTTATACCTCTTTGGACTCAGTTTCCTCATCTCTAAAATAATTGCTTATCATGAAAAGTGCCATACTGTCAGTTCTGGACACACCAGCGGCCCCCTGACCGCCCTGACTCTTGTGGGCATAAGAATCTGAGCTTTGGGTTTGAATCCTTGGGCAAGTCACTCAACTTTTCTGGGCCTCAGTTTCCTCACCTGTGAAATGGTGCAATCATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTACAAAGGGCCCCAGGACTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCTTAGATGGTTGGGTGGGCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAGGGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCTCAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTGTCCTCTGCTCTTATACCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCGCCAAATGCTTCCCAGAATGACCTGAATTAGGCAGTTTCTGCTGTGTATCAAACAACCTCCAGGTTTCAGTGGATTTGCACCCAAGCATTTTGTTTGCTCTCTCATAGTCTGTGGGTCTACTAGTTATCTTGACTTTCAGCTACAGTTTGGGTTCAGGTGTGCTCTGCCTGTTGTTCTCATGGGATTAGCAGCTACTCATGGCAGATGACAGGGTGCAAGAGGCCAAACTGAACTACACAAGCTCATTTAAAGCCTCCACTCACATCTTGTCTGAGAATATTCCACTGCCTGAAATAAGTCACATGGCCAATCCCAAGACCTACCCTAGAGGGTAGTACTGCAAAGTCACATGGAAATGCATATGAATGCATAATCCTAAAATCAAAATGGAGGGAAGAATTGGGAACCATAATTCAGTCTACCACAGGCCTTCTAGAATGGCGTTGCCCTCAAATGGCCAAATTACTCTGTGTATGGGTGGTGAGTGACTG
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AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCCTTCCTGAGGGGTCACTGCTCTTGTCTTCCCCTTCAGCCACCCTCCAGGCGGGCTTGTGACTACCAAAATTGGCTGAATTCTGAGCACAGATTACCAGAGAGACAATTCTCCTAAGAGACATTCCCACTGCACAAAGAGGTGCCTTCAAGGAGCTGGTAGGCAGTAGAAGAAAGGAAAAAAGGAAGAGCCTCATGCTTGATCTGACACCATGGTCCACGCAGCCCTGGGGGAGCCCCCAGAGCCCTCTCTCCCCCATCAGTCAGCACCATCTGTTACCAGGGTGTAAATGGTGGGTCCTCGTCAGTCCTGGGTGCTGAGGATGGAGCTGACTGGGACAGCTCTCTGCCCCCTAGGACTCACAAGCTCAGGGGAGAGAGTGACCAGGAGACAGCTTGTGACCTTACTATGTGCTCAGTGCAGTGAGCAGGGTGCTTGGGGCCCTGTGCCCAATCTAGGCTACAGAGCCCAGGGTTGCAGGGTTGCTTAAAGCTCCCTGATGGCCCATAATGGCCAGGTCAGTGGGCAGGTCCAGGGCCTGTCAGAATTAGGCAAGCCTGTCTTTATGTTGCTTTCATTCTTTTTAATCATCATGAGATGGAACTTGGCAGATGTCAGTGGACAGAGGCTGGCCAAAGGAGGTTTTCTTATCCCCTGCTAAATTCCTTGCTAGGACACAGTCTGATTTTACCAGCTTAAAGGTGGGATTCTCCACCTTCCTGAGTGGTTCAAGTATCCAGAGCTCAGTGGCTCACCCAGGGTGAATATTATAGTCTCCTGGGGCTGCCATGACAAAGTGCCACAAACTGATGGCTTGAAACAAACCCCATGTATTCTTTCATGCTTCTGGAGGCTGGAAGTCTAAAATCACGGCGTCAGTAAGGCCATGTTCCCTCTGAAGGATGCGTCACTCCAGTCTATGCCTCTGTCATGACATGGATGGCCTTCTTCCCCCTCTGCTTGCCTCTCCTCCTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTTGCCCAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTATTTCCAAATAAGTTCACATTCACAGGTCCCTAGGGTTAAGACTTGGGCAAATCTTTTCTGGGGGGACGCATTTAACCACAACAGGGTGTGACACAGGTTTTGCTCGCTGGCTGTGGCTCAGCCTGTGCAACCACGCTAAGTGTGAAAGGTTTTTACTGCTTTCACCTGGGCAGAAATGGTGGCAACATGGGGCCAGCCTATCCCCACTCTTCTTACCTCTTCAGAGAGGCTGAGGAGCTGGGTTTGTAGAGCTCATCTTTTATAGAGAGACATAAAAAGCCAGGAAGCAGGATTTTAAAATGAATGGGGTTTTAAGTAGAAAATTCGCAGATACTACTTGTTCTGTTCCTTTATAGCACACCTGTCCTGATACTGACTTGGAAAGAGACAAGAAGACTTTGGCTGACCCCACTTGGAAACAATAGGCACTAATCCCAAAATTGTGTATTGATCCCAGAATTCTCAGGAAAAGAAAAAAAAAATCAATACATGCCGCTTCCAGGGTTCTCAGCCTTACTGTGGGGCTGTCCTCAAAAGTCTGCATCACTGGGTCAGGTCTTGACTTCTCTCTCATCTCTCTTCCTGTCTTTCAACCCTCTCTCCTCCCTGCAACCCTCAGGGTACAGCCTGTTCCTCGTGGCAGCCCACAAGTTTGGCCACGCCATGGGGCTGGAGCACTCCCAAGACCCTGGGGCCCTGATGGCACCCATTTACACCTACACCAAGAACTTCCGTCTGTCCCAGGATGACATCAAGGGCATTCAGGAGCTCTATGGTAAACCTCCGGGCGGGGGTTGGGGGTGGAGGGTGAGGAGGGGGGAGGTCATGTAGCCTGGGATGGAGGCCCAGGGGGTGGGACCAGCAAGATCTCATCCAGCCAGGAGTGCTGGAGACGAGGGCAGGAAATGGGAGTGTTGACCTGGTCTTGGGAAGGCAGAGCAGCTCTCCAAGGGGATACTTGGATAACTCTTCCCTATCCGAACAATGCTAATATCCATGTCACTCTTAGCGCTCCATTTCTGGGTTTCTCCCATTTTCTAGGTGAGTAAGGTCACCTGGTGCAAGGTTACACAGGTTTGAGCAACCCAGTGGAGTTTAGAATCCAGGAGAATAGCCAAGTACAGGACAGAATTTTCCATCATGTGGAATGACCTTAACAATACGGGGGTGGAAGTTTCTAGTTTTCATAATAAGCTTTGATTTTTAGTATGTAGTAGAAACAGAACAACCAGTGCCTTAAGCCAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTGTTGGTTCTTACAGTGAGGCTAGAGTTTAAAAAGTCAGTTCATTTTTAAAAAATATTTAATGGTCCAGGTGATATCTGAGCCAGGCCAAAATAGTGAAAGTGGTGCTTGAGTGATGAAGTTTGGGGACTGCTAGACTCAGGAAAAAGCCCAAGGTCTGCCGTGAGGGGTGCTGGGTTCAAATGTGGCCTCTGCCCTTCACTAGCTGCAAGATATTGTGTAAGTCTTTATACCTCTTTGGACTCAGTTTCCTCATCTCTAAAATAATTGCTTATCATGAAAAGTGCCATACTGTCAGTTCTGGACACACCAGCGGCCCCCTGACCGCCCTGACTCTTGTGGGCATAAGAATCTGAGCTTTGGGTTTGAATCCTTGGGCAAGTCACTCAACTTTTCTGGGCCTCAGTTTCCTCACCTGTGAAATGGTGCAATCATGATACCCCACTCCCAGGGCTATAGAGAGGACTGATTTGGGTGATGTCAGTAAAAAGCATATATAAAGTACAAAGGGCCCCAGGACTCCCCAAGTCCAGGCATCTTCTTGTTACCTTACGGAGCTTACACTAAGGCCAGAAGGCGATTTCTTCTGACTCTTAGATGGTTGGGTGGGCACCCCTGGGGGCTCACCCTAGTGGGGAGAACCTCTGGAGCTGCAGAGAGTCTAAGGTCAGGTGTTCTCCCCAGGGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCTCAGATCCGTGGTGAGATCTTCTTCTTCAAGGACCGGTGAGTGCAGGAGCTTGCTTCTTGTCCTCCTTGTCTCCTGTCCTCTGCTCTTATACCATTATTCTTTTCCCTCACTCTTCGCTGAAGACTCCGCCAAATGCTTCCCAGAATGACCTGAATTAGGCAGTTTCTGCTGTGTATCAAACAACCTCCAGGTTTCAGTGGATTTGCACCCAAGCATTTTGTTTGCTCTCTCATAGTCTGTGGGTCTACTAGTTATCTTGACTTTCAGCTACAGTTTGGGTTCAGGTGTGCTCTGCCTGTTGTTCTCATGGGATTAGCAGCTACTCATGGCAGATGACAGGGTGCAAGAGGCCAAACTGAACTACACAAGCTCATTTAAAGCCTCCACTCACATCTTGTCTGAGAATATTCCACTGCCTGAAATAAGTCACATGGCCAATCCCAAGACCTACCCTAGAGGGTAGTACTGCAAAGTCACATGGAAATGCATATGAATGCATAATCCTAAAATCAAAATGGAGGGAAGAATTGGGAACCATAATTCAGTCTACCACAGGCCTTCTAGAATGGCGTTGCCCTCAAATGGCCAAATTACTCTGTGTATGGGTGGTGAGTGACTG
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Task1_train_22637
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Here is a mutation in SLC6A2 (solute carrier family 6 member 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Neurocirculatory asthenia
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TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGATCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCAGTGAGTGACCCTGCTTAGGATACCTATCCCCCATCCCACTGGGCCTGACCCCCTTCCCCAACACACAGTGCTGGGCCTGAAGTTCCCACTATTCAAACACCAGGTTAACAGTTGTTTCCAGAAGGCCCTATTTAAATGCAGACAAAAAAAGTGAGTCCTCACTCAAAAAGATAAGACTTAGGCCATAGCCAAGAACCATAGGAACCCCTTTGACATCTTGGAAATCCAAAAGAAGAGGCTTCAGATAAGCCAGCCCCACACTGTCCTCTTGCAGGTGGGGAAATGATTCAGAGGCAACACAGATAAAATCTTGTGCTCTAAACAAGCATTTTCTCATTATATTTTATTATCAATAATCAATAGGCCAGGCATGGTGGCTCACTCCTATAATCCCAGGGCTGTGGAAGGCTGAGGTGGAAGGATTGCTTGAGGCCAGGATGTCAAGACCAGACTGGGCAACATAGGGAGACCCCCGTCTCTATAAAAAATTTAAAAAATTAGCTGAGCATGGTGTTGTATGCCTGTAGCCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACATGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATACCACTGCACTTCAACCTGGGTAGAGTGAGACCTGGTTTCTAAAAAACACCTCAAAACCCAAACGAACAAACAAAAACATTTTGAACCCAGTAGTTTCTTACATCCTTTTATTTTATCCAAATGTAAGATTGGATTTACTGACATCTTTTTAAATCTATGTCTACCCTTAGTACCTCATGCCTGGACATTTGCAAAAAATCTTATGGAAGGGCTGGCACTTGGTTTTCCTCCCACTGCCTTTTGCTTTCAGTCAGCAGATCTGCCAGGAGCAGGGAGTTGAGAAGGATTTTGAGGCTGCTTCTGGGCTTATAATGAAGAATACTGATTTTGATTAACAGTGTCTGCCAAGAGGAGGGGAGAGGAGAGGAGAGTGGTAGCTTGCATTCTTCTTGTCTGCCCTCACATTGTCCTCATAAGGAAGCAATCTGCCCATAGCAGTGGGATATGAGACCCTTTCAGACTCTAAGAGTCTGGAGTTTGAAGTGACCACTTTGCTTGATCATTAGAAAGGCAGCCAAAAATCCTTATCAAAAACTGCTGCCTGAAGTTCCCATCACTAGAAGCTCTTCTGCAGGAGTTGTTTCCAGAGACACTTATTGACATGTAAACGTATGACATGGGTTTTGGTGTTTTACTGCTTTCACTCCACTATCAGCTTATCTGTACCCACTCAGGCTGAGTGAGTGTCAGGAGACAGGTAGCTGTTGCGTAGGGGAGACAGGTGTTGACTTAACCCTCACCCTCTCCCACGTAGTTTCTGAGTTCTGAGTTTGCCTGAGAACAGGACAGAAATGTGACGAGAGGATGGGGAAGGCAGGACGTGCTGATTTCTCGAGAGAGGCAAGGCAGCCTACATGAGTCCTGGGCTGCAGGAGGCTCTAGGAACCCTGGGGCCTGAGACTGAGGTCCAGGGAGACCCTAATTCCTGCACCCCACCCCTCCTGGTTCCCTCCAGATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGACACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCGCCCTGTTCTGCATAACCAAGGTGAGTAGGGGCTGGGCTCTGGGTCACCTGGGGGCCTCTGAGGCCGCATTTCAATAAAGTCAAACATTCCTAGCCTTAGAACTGGGGCTGAGCTCAGGGAGAACAATGCAGGATCCAGCATCCTCAATTCAGCGGCCTGACCCACTAGGGTTAGGCCCAGTAGTCTTCTTCCATCTCTGATGCTGAGGATTCCATTCAGCCCTGTTAATTGCTTATTGACTTGAGGGGCAGCAAAAGTCCCTTTGGAACCCATCTAACTCTTTATTGGCTGAAACTGAGGTGACTGTAACGTCAATACAACAGCACCACAGCCCTATGCCCTGGGTTTTCAAATAGAGCTCCGAGCAAGTGGGACAGGGGGCAGGTAAGAGTTGACAGACACAACAATCAGTTCCCACGTTTGACCAAAGAGGGCCTCTTGGCTTCTTCTCTCCCTGTGCCAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCCATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGTATGTGAGTGTGTGGAAAAGCCTCAGCTCCCAGTCCTCCTAGAATCCTGCACCTGGAGGTGTGCAGGGAGGCCTTCCATTTCCAGGACAGCCACCTAAAATTCCAGAGTCCAGCAAGTCACTTATTGGGAACAAATCTCAATCCTCGGCTCATCTTTGGATGAACCTGCCCTTAACAGGAGGCTGCAAAGGCCCCTGGGCATCAACTCCTAAAAGAGGAACCCTTAGGAAAATGCTGACCCCCAAGTCATATAATTCATCCTACCAGGGGGTTGTCAGATTTAGCAAACACAACACGGGTTGCCTAGTTAAACTTGAATTTCAGATAAATAACAAATAATTATTTAGTATAAGTATAGCTCAAATATTGCATCGGACATACTTACCCTAATTTTTTTCATTATTTATGTGAAATTCAAACTTAACTGGGTATCTTGTATTTTTTCTGGCAAACTTATTCTGGAACAGAACTGAGAGAATATTTTACAAACCCTTAAATGTGTTAATTGTTTGTTTTTCCCCACCAAGTGTCACACCAACATGTTAGTCCTGTTCTCACTCTGCTGCCACTCAGAAAGAGATTCAATGGAAGAGTCTGGGCTCTCCTATCAGATTGAAGTCAGGGAATGTGCTGTATGCATAGTTGTTGTTATTTTCAGAGCAAGAGTAACCAAGAGGAAAGAGCTGGGCTTTGGAGTCAGGCCAACTGGCTCTGGAATTTGGGGCAAATCCCCTCACCTCTTTGAGCCCAGGTTTCCCTCTGACAGGTGAATTGGGGTGACACATGAAAGGGGATACTGTCCTAGAGTTTGTCCTCTCCCTCATTCTGCATTACAAAGGGCCCATCCCCGAGTCTCCCTAGTTCCAGGGTATCAGCATCTTGCCTCACTGCCCTGCTCTCCACCTGGGGCCAGAACCTCATGGGAGGACCTGGCCCTGGCTATCATGGGGGCCATGGTAACAGGCCTGCCCTGTGTGTGCACAGGAGTGGACAGGTTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGCTGGAAGTTCGTCAGTCCTGCCTTCCTCCTGGTGTGTAGTGTCTGCAGGGAAGTCCTGCATGTGGGGAGGGGGCTGTGTCCAGGATGGAGCTGGGTGAGGATATTTGCTTCTTAGGGGAGGAGGCTCTGGGATCCAGAGGCCCTGGTCATGCAGAGGGGTCACTTGGGATGCTTGGCCCTGTGGATAACGTGGTAGACATCCACCTTACTAGGGGGTTCTCCAGCTGGGGCCAGGTCCCCGGGGGCTGTTATGCCTTCTCCAAAGTCACCTTCTGTTCTTCCTCTTTTCTTGCTCCCTGTCATATCTGCCTCCTTTTGATTATCACTTGCTTCTTGAATTCTTTCTTATTTCTCCATCTCTTTCTCTTTTCCACTCCTTCCTTATTTCCTCCCTTTGCTGTGATGCTCACTTCTCTTCATTTCTCTCCC
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TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGGATCTACATTCTGGGCTGTTGTGTTTTTCGTCATGCTCCTGGCGCTGGGCCTTGACAGCTCAGTGAGTGACCCTGCTTAGGATACCTATCCCCCATCCCACTGGGCCTGACCCCCTTCCCCAACACACAGTGCTGGGCCTGAAGTTCCCACTATTCAAACACCAGGTTAACAGTTGTTTCCAGAAGGCCCTATTTAAATGCAGACAAAAAAAGTGAGTCCTCACTCAAAAAGATAAGACTTAGGCCATAGCCAAGAACCATAGGAACCCCTTTGACATCTTGGAAATCCAAAAGAAGAGGCTTCAGATAAGCCAGCCCCACACTGTCCTCTTGCAGGTGGGGAAATGATTCAGAGGCAACACAGATAAAATCTTGTGCTCTAAACAAGCATTTTCTCATTATATTTTATTATCAATAATCAATAGGCCAGGCATGGTGGCTCACTCCTATAATCCCAGGGCTGTGGAAGGCTGAGGTGGAAGGATTGCTTGAGGCCAGGATGTCAAGACCAGACTGGGCAACATAGGGAGACCCCCGTCTCTATAAAAAATTTAAAAAATTAGCTGAGCATGGTGTTGTATGCCTGTAGCCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACATGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATACCACTGCACTTCAACCTGGGTAGAGTGAGACCTGGTTTCTAAAAAACACCTCAAAACCCAAACGAACAAACAAAAACATTTTGAACCCAGTAGTTTCTTACATCCTTTTATTTTATCCAAATGTAAGATTGGATTTACTGACATCTTTTTAAATCTATGTCTACCCTTAGTACCTCATGCCTGGACATTTGCAAAAAATCTTATGGAAGGGCTGGCACTTGGTTTTCCTCCCACTGCCTTTTGCTTTCAGTCAGCAGATCTGCCAGGAGCAGGGAGTTGAGAAGGATTTTGAGGCTGCTTCTGGGCTTATAATGAAGAATACTGATTTTGATTAACAGTGTCTGCCAAGAGGAGGGGAGAGGAGAGGAGAGTGGTAGCTTGCATTCTTCTTGTCTGCCCTCACATTGTCCTCATAAGGAAGCAATCTGCCCATAGCAGTGGGATATGAGACCCTTTCAGACTCTAAGAGTCTGGAGTTTGAAGTGACCACTTTGCTTGATCATTAGAAAGGCAGCCAAAAATCCTTATCAAAAACTGCTGCCTGAAGTTCCCATCACTAGAAGCTCTTCTGCAGGAGTTGTTTCCAGAGACACTTATTGACATGTAAACGTATGACATGGGTTTTGGTGTTTTACTGCTTTCACTCCACTATCAGCTTATCTGTACCCACTCAGGCTGAGTGAGTGTCAGGAGACAGGTAGCTGTTGCGTAGGGGAGACAGGTGTTGACTTAACCCTCACCCTCTCCCACGTAGTTTCTGAGTTCTGAGTTTGCCTGAGAACAGGACAGAAATGTGACGAGAGGATGGGGAAGGCAGGACGTGCTGATTTCTCGAGAGAGGCAAGGCAGCCTACATGAGTCCTGGGCTGCAGGAGGCTCTAGGAACCCTGGGGCCTGAGACTGAGGTCCAGGGAGACCCTAATTCCTGCACCCCACCCCTCCTGGTTCCCTCCAGATGGGAGGCATGGAGGCTGTCATCACGGGCCTGGCAGATGACTTCCAGGTCCTGAAGCGACACCGGAAACTCTTCACATTTGGCGTCACCTTCAGCACTTTCCTTCTCCCCCTGTTCTGCATAACCAAGGTGAGTAGGGGCTGGGCTCTGGGTCACCTGGGGGCCTCTGAGGCCGCATTTCAATAAAGTCAAACATTCCTAGCCTTAGAACTGGGGCTGAGCTCAGGGAGAACAATGCAGGATCCAGCATCCTCAATTCAGCGGCCTGACCCACTAGGGTTAGGCCCAGTAGTCTTCTTCCATCTCTGATGCTGAGGATTCCATTCAGCCCTGTTAATTGCTTATTGACTTGAGGGGCAGCAAAAGTCCCTTTGGAACCCATCTAACTCTTTATTGGCTGAAACTGAGGTGACTGTAACGTCAATACAACAGCACCACAGCCCTATGCCCTGGGTTTTCAAATAGAGCTCCGAGCAAGTGGGACAGGGGGCAGGTAAGAGTTGACAGACACAACAATCAGTTCCCACGTTTGACCAAAGAGGGCCTCTTGGCTTCTTCTCTCCCTGTGCCAGGGTGGAATTTACGTCTTGACCCTCCTGGACACCTTTGCTGCGGGCACCTCCATCCTTTTTGCTGTCCTCATGGAAGCCATCGGAGTTTCCTGGTTTTATGGTATGTGAGTGTGTGGAAAAGCCTCAGCTCCCAGTCCTCCTAGAATCCTGCACCTGGAGGTGTGCAGGGAGGCCTTCCATTTCCAGGACAGCCACCTAAAATTCCAGAGTCCAGCAAGTCACTTATTGGGAACAAATCTCAATCCTCGGCTCATCTTTGGATGAACCTGCCCTTAACAGGAGGCTGCAAAGGCCCCTGGGCATCAACTCCTAAAAGAGGAACCCTTAGGAAAATGCTGACCCCCAAGTCATATAATTCATCCTACCAGGGGGTTGTCAGATTTAGCAAACACAACACGGGTTGCCTAGTTAAACTTGAATTTCAGATAAATAACAAATAATTATTTAGTATAAGTATAGCTCAAATATTGCATCGGACATACTTACCCTAATTTTTTTCATTATTTATGTGAAATTCAAACTTAACTGGGTATCTTGTATTTTTTCTGGCAAACTTATTCTGGAACAGAACTGAGAGAATATTTTACAAACCCTTAAATGTGTTAATTGTTTGTTTTTCCCCACCAAGTGTCACACCAACATGTTAGTCCTGTTCTCACTCTGCTGCCACTCAGAAAGAGATTCAATGGAAGAGTCTGGGCTCTCCTATCAGATTGAAGTCAGGGAATGTGCTGTATGCATAGTTGTTGTTATTTTCAGAGCAAGAGTAACCAAGAGGAAAGAGCTGGGCTTTGGAGTCAGGCCAACTGGCTCTGGAATTTGGGGCAAATCCCCTCACCTCTTTGAGCCCAGGTTTCCCTCTGACAGGTGAATTGGGGTGACACATGAAAGGGGATACTGTCCTAGAGTTTGTCCTCTCCCTCATTCTGCATTACAAAGGGCCCATCCCCGAGTCTCCCTAGTTCCAGGGTATCAGCATCTTGCCTCACTGCCCTGCTCTCCACCTGGGGCCAGAACCTCATGGGAGGACCTGGCCCTGGCTATCATGGGGGCCATGGTAACAGGCCTGCCCTGTGTGTGCACAGGAGTGGACAGGTTCAGCAACGACATCCAGCAGATGATGGGGTTCAGGCCGGGTCTATACTGGAGACTGTGCTGGAAGTTCGTCAGTCCTGCCTTCCTCCTGGTGTGTAGTGTCTGCAGGGAAGTCCTGCATGTGGGGAGGGGGCTGTGTCCAGGATGGAGCTGGGTGAGGATATTTGCTTCTTAGGGGAGGAGGCTCTGGGATCCAGAGGCCCTGGTCATGCAGAGGGGTCACTTGGGATGCTTGGCCCTGTGGATAACGTGGTAGACATCCACCTTACTAGGGGGTTCTCCAGCTGGGGCCAGGTCCCCGGGGGCTGTTATGCCTTCTCCAAAGTCACCTTCTGTTCTTCCTCTTTTCTTGCTCCCTGTCATATCTGCCTCCTTTTGATTATCACTTGCTTCTTGAATTCTTTCTTATTTCTCCATCTCTTTCTCTTTTCCACTCCTTCCTTATTTCCTCCCTTTGCTGTGATGCTCACTTCTCTTCATTTCTCTCCC
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Task1_train_22638
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With a mutation on Chromosome 16 in gene CES1 (carboxylesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; DRUG METABOLISM, ALTERED, CES1-RELATED
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CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATTTCAGATCCCAATCAGGGAAGGCTTTTTGGAGGCAGTGACATTTGAGGTTTTGGAGGCAAAGACCTTCATAAAACAAGCACAATGAGCACATGAACCTTGTAAATATCCAAAGAAAGGAATTCCAGGCAGAAGAAAAAGCAAGTGCAAAGGGCCTGGGGCCCAGTGAAAGAAAGTGTGAGTCAGGAGGTGCAGCTAGAGAGGGCCCTGGGGCCTGGCAAGAACTTCGGCTGTCATGGTAAGGAGCATGGGAAGCCCCTGCAGGGTTTTGTGCAGAGGCATCGCATGATTCAATGCATGTGTTAAGTGATCACTCTGGCTACTGTGCAACTCAGCTTTATATAAAAGTGGCAGGGATCTGAAAGTGTTAAAGATCATAATCAAGGTGACAGACAGAGAGCTTTGGCTGGGCTAGGAGCCAGGGAAGAGGTGCAAAGTAGGGGACTCTGAGTGGATTCTGAAGGCGCAGCCAAGAGGGTTGTGAGAAAAGAGACAGTCCGGGCTGTCCACAAGGCCTTCTCCTGAGCCCAAGGGAGGATGTGGCAGCAGAAGCTGAGTGGAGGCGTGGTGGGAGGAGAAGGGGGTCTCTGTTGGGGAGGGGCAGTGGGAGTCAAGGATTCAACTTGTCCCTGGGAAGAGTGGGGCACCCTTTAGACAGCCAGGGGTGGGGAGGAGGGAGTGAGTGATGCCTGTGGGCTTCAAAGGTGAGGTGGGCTGGAAACAGGGGCTCTGGCTGCTCCCTGGGATCACTGGGAATTAGTAAGGAGGGAGAGGGAGACAAGAGAGGCCTGTGGACAGGGAGGAGGGAGGACCAGGAAAGGGGCTGGGAAGGAAGCATGTCACAGAGGCTGAGTGGCCATCTGCTGCTGCTGGGAAGTCCTGAGAGGTTGGGTGGAGAGCAGGGGGAGGTCATTGATGACCGCAATGAGACCAACTGAGTGGCGTGTTCAGGAAGAAACCTGACTGGCATGGATGGAGGAGAACCTTAGAAAAGGTTCATAGCAGTTGCGCCTTGAAGGAGATCTGACTCCTGTCCCCATGGAGACCTGATGGGAAGACTCCATCCTTGCTTCCCACACTTGCCAAATTTCAAGCAGAAAATGAGCTGAGTGGGTCCCAACACTCCCACAGGAAGGGGTCAGATGCTCCCACACCCCACCATCTGCAGCCCCCATTCCTTCACCCACAACATGCCCTGAGCTCCCTCTGTGACTCTGCCCCTTCCCTCCTTTCCATGAGAAGTCAGATGTGTCAACCTTCACCTGCTGGGCTGACTGCTAAGTGTCATGACAGAGAAAAGCAATGTGCTGGAGAAACATAGGTGAAGAGGAGATGAGTCTTTCAGTGGAGGTAACTGGGGGCTGGGTCTTGCAGGATGAAGAGGTGTTCTTCGGATAGAATAAGCATTCCAGGCAGAGGGAACAGCACATGCAAAAGCTCAGAGGCAAGTGGATGAGTGGCTGGGTAGTGAGAGGGTAGGTAGTGTCCAATTACGAAGGGGCTTGGATGCCTTACTGTGGAACCTAGCTAAGCTCCCCTGAGGGCTGGCATGACAAGAGCTGGGTCCTAGCATCCTCGTTCTGGGGGCCAAAGTGCAGTGAGGAGAGTCCGATTTCTTACCTGAAGAATCCCCAGATGCCCAGGCGATATTGAATGGTCACCACCACCACGTTTTCATGGGCAGCAAGGGCCAGCCCATCATAGGTTGATGCCGCACCCACCATCAGCCCCCCTCCGTGGATCCACACCATCACCTGGGCAGAGAGGAAGCAACATACCAGTTACAGGACACAGAGCCAGGGAGCACTCAGAAGATGTCTTGTTTGGTGACCTACCTGTTGGTTACAACTGAAGGAGGATGCTATCCAAAGTTCACCAGCTCCCAGCAACTTTGCAAAAGGCAATCTCTCTCCTGCATAATTCTCCCAACTGGGACCCAAGCCACCACCCTACTGCACATACCCTGGCTGTCCCTTCCTTTCTACCCAGCCTCCAGTGCCTCCTCCCCGAAAGGCTCTTGATGCTGAGAACATCATCATGGGCATAGCAAAGGCTAAGGATGTCCTCTTCGGGAGGACACTCCCATCACCCTCAAGCCTAGACTATTCATGCACTCAGCGTACCCATGGGGCAGCCCTTGTATCTCAGCTTCATCTCAGTTAACTATCTCTTGGTGAAGTAAACTTCTCTGTGCATGAATGATTGTCTCGAGAAGCACACGTGCCTGTGATGGTGTCTCTTCCTCAAATGCCTCCTTATGCCTCTGCATCCCCAAATCCTATCCACCCTGCAGAACCCAGCCTAAAACCCACCCACTTCAGGATGCCTTCAGTCAATGGACTAACACTGTCGAGAACTTAGCATGTGCCAGGGACTCTGCTAATACTGGAGGATGAGAGTGGATACAATTCCTCATGCATGATTCTTGCATTTTAAAAGTCCACATAGTGGGGAAGAAGTGAGAGTGGCTAAAATAATGATATTGTAATAATATTATTCATGAAATATAAAAGAACTCGTAACATAAACTATGTCCCAAGTGCTGTTCTAAGCACAGTAAAATAAACTATACATTGGGTAGGTACTAATAATGTCCCATTATCCAGGTGGGAAAATGGAGGCACTTAACCTGCCCAAGGTCCTACAACTCAAAAGTGGTAGCAGCAGGACTTTAACCCAGGCAGTCTGCCTCCAGAGTCCACATGTTGAGCTGCCCAGCACACTGCAGGCGCCGGCCACAGTGCAGTGAGTCCACTGTTAGGGCAGGGGTATGAGCCTGCCTCTGCCTTTTTAGCCAGGGACTGAGATCACGCTTAGTGGTCACCCTTGACTGATCATATGTGATGATTCCCATTTTGAGGAAACAGAGGCTTAGAGAAGTTAAGAAACTCCCAAGTCTCTCAGCTAGTCAAAAGCAGAACCAGGATTTAAACCCAGACCGTGTAGTTCTAGAGCCTGTGGCCATTCCTGGAGGTTCTCCTGACTCCAGGTTCCCAGAGCCCTTGTTTCTCCCACAACTCTAATCCCTGCCTGCCTCCTGGGGAGGGATTGAGTGTGCATTCATCTTTGTGTGAAGACTGAGCCTGAGGGCTGGCCTGCAATAAAGTGCTGAAGGGAGGATATGTCTCTACAGCCCAGAAGGCAAGATCCTTGAAGGCAGGGGCTGTGTGGAGTGGATTCATGTTCCTCCTTTCCCTGAAGCCCCAGGTCTAACTGTGTATATGGGGCACTGAGTACACAATAGAAGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGTAAACCTTTCTCTCACTTCCTGTGTCTCACAAAGCACATGTAGGACCAACTTCTAGTTCCACGTTCGCAGACCTGCTCCCCCACTCCTAGGCACCATGCCACGGTGCCCCTGGGAGACTGGCTAGACACAACACCCCTTGTTTTTTCACCCTGGGTGCCTCCTTTGCCAGCAGACCCTCCCCACCCTCCAACCTGCAGCTGGCGGGCTGCCCCATGTCCTGCCCTTCATTTATTTGGGAAATTCTGACTCACTGGGTCATCAGCCTTTGCCAAGACAATTAGGGAGGGAAATTAGGTACAAAAAGAAATCCCAGCTATTTGGCCAAAGGCAAAAGGAAGAGCTTCTGGGATTGTCCAGGCTCCGCCCCCAACATCCGTACCTGGACAGTGAAAGTTACCCCAGATGAATGTTGCTGTGCTGGAGAAAGGCCACATACAAGCTCAATGCCCTACTCCATGTCAAAAGCACTGATGTGAAGATCAGAAGACTTGAG
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CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATTTCAGATCCCAATCAGGGAAGGCTTTTTGGAGGCAGTGACATTTGAGGTTTTGGAGGCAAAGACCTTCATAAAACAAGCACAATGAGCACATGAACCTTGTAAATATCCAAAGAAAGGAATTCCAGGCAGAAGAAAAAGCAAGTGCAAAGGGCCTGGGGCCCAGTGAAAGAAAGTGTGAGTCAGGAGGTGCAGCTAGAGAGGGCCCTGGGGCCTGGCAAGAACTTCGGCTGTCATGGTAAGGAGCATGGGAAGCCCCTGCAGGGTTTTGTGCAGAGGCATCGCATGATTCAATGCATGTGTTAAGTGATCACTCTGGCTACTGTGCAACTCAGCTTTATATAAAAGTGGCAGGGATCTGAAAGTGTTAAAGATCATAATCAAGGTGACAGACAGAGAGCTTTGGCTGGGCTAGGAGCCAGGGAAGAGGTGCAAAGTAGGGGACTCTGAGTGGATTCTGAAGGCGCAGCCAAGAGGGTTGTGAGAAAAGAGACAGTCCGGGCTGTCCACAAGGCCTTCTCCTGAGCCCAAGGGAGGATGTGGCAGCAGAAGCTGAGTGGAGGCGTGGTGGGAGGAGAAGGGGGTCTCTGTTGGGGAGGGGCAGTGGGAGTCAAGGATTCAACTTGTCCCTGGGAAGAGTGGGGCACCCTTTAGACAGCCAGGGGTGGGGAGGAGGGAGTGAGTGATGCCTGTGGGCTTCAAAGGTGAGGTGGGCTGGAAACAGGGGCTCTGGCTGCTCCCTGGGATCACTGGGAATTAGTAAGGAGGGAGAGGGAGACAAGAGAGGCCTGTGGACAGGGAGGAGGGAGGACCAGGAAAGGGGCTGGGAAGGAAGCATGTCACAGAGGCTGAGTGGCCATCTGCTGCTGCTGGGAAGTCCTGAGAGGTTGGGTGGAGAGCAGGGGGAGGTCATTGATGACCGCAATGAGACCAACTGAGTGGCGTGTTCAGGAAGAAACCTGACTGGCATGGATGGAGGAGAACCTTAGAAAAGGTTCATAGCAGTTGCGCCTTGAAGGAGATCTGACTCCTGTCCCCATGGAGACCTGATGGGAAGACTCCATCCTTGCTTCCCACACTTGCCAAATTTCAAGCAGAAAATGAGCTGAGTGGGTCCCAACACTCCCACAGGAAGGGGTCAGATGCTCCCACACCCCACCATCTGCAGCCCCCATTCCTTCACCCACAACATGCCCTGAGCTCCCTCTGTGACTCTGCCCCTTCCCTCCTTTCCATGAGAAGTCAGATGTGTCAACCTTCACCTGCTGGGCTGACTGCTAAGTGTCATGACAGAGAAAAGCAATGTGCTGGAGAAACATAGGTGAAGAGGAGATGAGTCTTTCAGTGGAGGTAACTGGGGGCTGGGTCTTGCAGGATGAAGAGGTGTTCTTCGGATAGAATAAGCATTCCAGGCAGAGGGAACAGCACATGCAAAAGCTCAGAGGCAAGTGGATGAGTGGCTGGGTAGTGAGAGGGTAGGTAGTGTCCAATTACGAAGGGGCTTGGATGCCTTACTGTGGAACCTAGCTAAGCTCCCCTGAGGGCTGGCATGACAAGAGCTGGGTCCTAGCATCCTCGTTCTGGGGGCCAAAGTGCAGTGAGGAGAGTCCGATTTCTTACCTGAAGAATCCCCAGATGCCCAGGCGATATTGAATGGTCACCACCACCACGTTTTCATGGGCAGCAAGGGCCAGCCCATCATAGGTTGATGCCGCACCCACCATCAGCCCCTCTCCGTGGATCCACACCATCACCTGGGCAGAGAGGAAGCAACATACCAGTTACAGGACACAGAGCCAGGGAGCACTCAGAAGATGTCTTGTTTGGTGACCTACCTGTTGGTTACAACTGAAGGAGGATGCTATCCAAAGTTCACCAGCTCCCAGCAACTTTGCAAAAGGCAATCTCTCTCCTGCATAATTCTCCCAACTGGGACCCAAGCCACCACCCTACTGCACATACCCTGGCTGTCCCTTCCTTTCTACCCAGCCTCCAGTGCCTCCTCCCCGAAAGGCTCTTGATGCTGAGAACATCATCATGGGCATAGCAAAGGCTAAGGATGTCCTCTTCGGGAGGACACTCCCATCACCCTCAAGCCTAGACTATTCATGCACTCAGCGTACCCATGGGGCAGCCCTTGTATCTCAGCTTCATCTCAGTTAACTATCTCTTGGTGAAGTAAACTTCTCTGTGCATGAATGATTGTCTCGAGAAGCACACGTGCCTGTGATGGTGTCTCTTCCTCAAATGCCTCCTTATGCCTCTGCATCCCCAAATCCTATCCACCCTGCAGAACCCAGCCTAAAACCCACCCACTTCAGGATGCCTTCAGTCAATGGACTAACACTGTCGAGAACTTAGCATGTGCCAGGGACTCTGCTAATACTGGAGGATGAGAGTGGATACAATTCCTCATGCATGATTCTTGCATTTTAAAAGTCCACATAGTGGGGAAGAAGTGAGAGTGGCTAAAATAATGATATTGTAATAATATTATTCATGAAATATAAAAGAACTCGTAACATAAACTATGTCCCAAGTGCTGTTCTAAGCACAGTAAAATAAACTATACATTGGGTAGGTACTAATAATGTCCCATTATCCAGGTGGGAAAATGGAGGCACTTAACCTGCCCAAGGTCCTACAACTCAAAAGTGGTAGCAGCAGGACTTTAACCCAGGCAGTCTGCCTCCAGAGTCCACATGTTGAGCTGCCCAGCACACTGCAGGCGCCGGCCACAGTGCAGTGAGTCCACTGTTAGGGCAGGGGTATGAGCCTGCCTCTGCCTTTTTAGCCAGGGACTGAGATCACGCTTAGTGGTCACCCTTGACTGATCATATGTGATGATTCCCATTTTGAGGAAACAGAGGCTTAGAGAAGTTAAGAAACTCCCAAGTCTCTCAGCTAGTCAAAAGCAGAACCAGGATTTAAACCCAGACCGTGTAGTTCTAGAGCCTGTGGCCATTCCTGGAGGTTCTCCTGACTCCAGGTTCCCAGAGCCCTTGTTTCTCCCACAACTCTAATCCCTGCCTGCCTCCTGGGGAGGGATTGAGTGTGCATTCATCTTTGTGTGAAGACTGAGCCTGAGGGCTGGCCTGCAATAAAGTGCTGAAGGGAGGATATGTCTCTACAGCCCAGAAGGCAAGATCCTTGAAGGCAGGGGCTGTGTGGAGTGGATTCATGTTCCTCCTTTCCCTGAAGCCCCAGGTCTAACTGTGTATATGGGGCACTGAGTACACAATAGAAGAATGAATGAATGAATGAATGAATGAATGAATGAATGAGTAAACCTTTCTCTCACTTCCTGTGTCTCACAAAGCACATGTAGGACCAACTTCTAGTTCCACGTTCGCAGACCTGCTCCCCCACTCCTAGGCACCATGCCACGGTGCCCCTGGGAGACTGGCTAGACACAACACCCCTTGTTTTTTCACCCTGGGTGCCTCCTTTGCCAGCAGACCCTCCCCACCCTCCAACCTGCAGCTGGCGGGCTGCCCCATGTCCTGCCCTTCATTTATTTGGGAAATTCTGACTCACTGGGTCATCAGCCTTTGCCAAGACAATTAGGGAGGGAAATTAGGTACAAAAAGAAATCCCAGCTATTTGGCCAAAGGCAAAAGGAAGAGCTTCTGGGATTGTCCAGGCTCCGCCCCCAACATCCGTACCTGGACAGTGAAAGTTACCCCAGATGAATGTTGCTGTGCTGGAGAAAGGCCACATACAAGCTCAATGCCCTACTCCATGTCAAAAGCACTGATGTGAAGATCAGAAGACTTGAG
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Task1_train_22639
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This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTG
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GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGATCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTG
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Task1_train_22640
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Here is a mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAA
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GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCTGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAA
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Task1_train_22641
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The following genetic variant occurs in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Developmental and epileptic encephalopathy, 17
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CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAG
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CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGCGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAG
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Task1_train_22642
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This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTAGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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Task1_train_22643
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This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTAGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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Task1_train_22644
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Gene GNAO1 (G protein subunit alpha o1), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTCGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCG
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Task1_train_22645
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Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
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TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAACACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
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Task1_train_22646
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A variant has been detected on Chromosome 16 in GNAO1 (G protein subunit alpha o1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
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TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAACACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGG
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Task1_train_22647
|
A mutation found in GNAO1 (G protein subunit alpha o1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCAGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGGGTCGAAAGCATTCGG
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CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCCGACCCACTACCACATCGCGTTTCCTGAGGTAACCCGGCCTCGGCTCTGCGGCCCCAGCGGCTGGAGAGCCACGGAGAAGGCGGGCTACGGGCGACAAGATGGAGAGCCGGCCCGAGAGGGACAGAGGCCGCGCTGGCAGCGAGCTGGGGGGCCCACCTGACCGTCCTGCGGGCAGCCCGGCCCCGCGCTCCCATTGACAAGGAGGTCCGCGCCGCCGGCGCGTGGGGCGGGGGCGGAGGCGGGGTGGGGCGCCCCGGCGCGCGCCCGGCCCCACTCCCCGCCCCCGCCAGTCCCGCAAGCACCCACCCCGGGGGAGCCGCGGGCCGGGAGGGCGCTGGGGGGAGGGGCAGGCCGCTCCGCGAGCGCGTGTGCGCGCCGCCGCCGGCTGACGCGAACTCCGGCGCGCGCCTCCCCCGCCCCGCGCCCTCCCCGTCCCGGGGGCCCGGCGCGCGGCCCTGCTGACGTCAGCTGGCGGCCCGCGGAGCCGGGTGCGCAGAGCCGCTGGCGCACTCGCGCGCTGCGCTGGCCTCCTCCCCGCCCCGGGCCCAGGCGCGCGCGCGCTTGTTCGCTCTCCCATTTTTTTTTTCCCCTCCCTCCCTGCCTCTCTCTCTCTCCCTCTCCCTCGAGCTCCCGGCTGGCTGCGGCTCCCTGGCGCTCTCCCTCTCTCTCCGGTAGGCTCACCGAGCGATGCGAGCTCTGGGAGACAGCGACGCCGCCTCCCGCTAGAGACCTGCCCCTCGGCCCGGCCCCCTGCCCAACCCTGCCCAGCGCGCGGGGGTCGGCGAAGGCGCCGCGGACGCACCGACGGCTGAAGAGCGGCGATGCACATGCACTAGCAGCACCCCCTAACTCACTCCCTCCACATCCCGCGCCGCCGCCGCCGCCTCCTCCACCTCCTCCTCCGCCGCCGCCGCCTCCTCCTCCTCCGGCAGCCGCGGCAGCAGGACCCACCCTGCCCCCCACCCCACCCTCTGTCGGCTCCGGCTGCGGCTCCAGCCTCGACTATTATTTTATTTATTTTGGGTCGTGCACAAGCCTCAGTGCCTGCAGTCCGCGCCTCCTCGGCCCGCGGGCGCCTCCTCCCTTGGCTCCGGAGCCCCAGACCCCGGCCACCCTCGATTCGACAACCCCAGACCCCTGCCAGCTGCCGCGAGTCTCCGCTGCTGGAATCTTGTTAGCGGCTGTCTTTTTGGAGGGTTCTGGTTTCCCGACATTTTTGTTTCCAGCCCAGGAGAGGATATCGTGATTTTCCCCCCTTGAGCCCAGGCTCTGCTCTCTGGGGGGGTGGGGGGCGCTCCAAGCCGGGGAGCCGTGCCAGCCGAGTCGTGCGGGCTGTGGCAGGGAAGGGGCCACCATGGGATGTACTCTGAGCGCAGAGGAGAGAGCCGCCCTCGAGCGGAGCAAGGCGATTGAGAAAAACCTCAAAGAGGATGGCATCAGCGCCGCCAAAGACGTGAAATTACTCCTGCTCGGTAAGGACCGCCGCTGCTACCCCCATCCCCCGACCCCGGCCACTCCGCACCCCCTGCCACCAGCTCCCCCACCCCACTCGCGCCCGGGAGACCTGGTCCCCAAGTTGGCACCACCATGTGCCCAGGATCGCCCACCCCCTCGCATGCCTTAGTCCCCCCCTCCCCCTGTTCCCTTAAGCTGACACTCACCAGTTTTTCCCCACTGTCTGTGTCCCAACAGGGGCTGGAGAATCAGGAAAAAGCACCATTGTGAAGCCGATGAAGTAAGTCCCTGTGGCATTGGGATTCGTACTTTTATTAAGAATAATTTTTAAATCGTTTTTATTACATTGCTTACTCCACATTGCTCTCCAGGCCTGTTTTTTAATTCGTGCACACACACACACACACACACACACCCCTATATTTGACTCCCCTCCCCCACTCCCTACGTTGGTTCTGGGTCCTCCACCCTAACTCCTGGGTGGGTGTTTTTTGGGAGGGGGAAGGGGAGCGCCTGTAGTTGTATGAATGACAGTGTCCGCCATATTGATCAGAACATCACACTATTGGCATGATTATGATCATTACTCTTGCTTGTGGAATATTTTCTGTGTCTCACTGCCTCCATTTCTGTCTGTGTCTCTGTTTCATTCTGTCTCTATTTCTTTCTCCTCTTCCCTCCATACCTCCCTATCCCCCAAGGTCCGTAATCCCACTTCCCCCTGCTCTTTTCCTGGGGCAGTGATTTTGAACTTGGCTAACATGGAGGGGACCCAGCCCTAGACTGGGGTGGAGGATCAAGTGTCTGCTGTTCATGCGTTTGGTGCTGAATTGGAGGCTGTGGTTTCTACATCCCCTCGCACCCCCTCCCCCGCAAAAAAAGAGGGCCAGGGTTAGGGGAGGGGTCGTGTGCTAGGGGAAGGAGTGGGTTTCCAAACGTAGGTGACGGGCACAGTTTTATCCAAGGTAGAGGTGGAAGGGGGAGGGAAGCTGCCTGTGAGGCTGAATGTCCGCCCCTTGCTGCCCCCAGCTCCTCTCCTCCCCCACCCTCCCAGCATTGCTCTCCTGACACCCGCAGTTTTCGTTCGCTCCGTGGCCTTTATCAGTGTATTTATTTACACTCTGCATAGGCCGTGTTCCATGTAATCTACCCACAATGCGGATTTCAGGCCCCACTTGCCGCCGCCCCCTTCTGCCTTAGCTATCAGTTTCCCCTCCTAATTAACTGGGGGTGGATTTGAGTGATGGTTGAAAATTAAAACAAAATGGGATATTCCTTCCCTTCCACACTTTCTCAATAAGGAGCCTCGCCCCTCCTTTCCACTTGCAGGCTCGCTTCTTGCCCTATCCACTCGGCAGTTCCTGGTGATCCCACAGGCAGGTTTGCTTGGGGAGGGGGTGGCCGGCAGCGAAGGGGTGTGCGCCCTCCGGGCCTCCTGTTTCGGTTGGCCTGTCAGTTCGAGACGGAGGAGTTCGTTTAGACCGTTTAGCGAAGATTCCACGTCGCTTTGCTGTGACACCTTCGTGCACACACAGCTCCTAATTAGGGGTTGCTGTGCAGTAAACAAAAATGATTATTTTTCAACTTGACACAATAGCCGAAATAATTGCATCGCGTAGGGAAACAATGGAAAATAAAAACCCCTTTCGTGGGAAGGTGGGAGTGGGAGACGAAGCATGCTTGCGGTTTCAGAACCAAGATGCAAAAAATCTTGGATGTGTAACAGGCATGACAAGCGGGTTCTAGGCGGCGCCATGATGGTAGGGAGTAGCGACTCGGAGACAATTTTCCCATCTGCTTGACATGTTCTTATTTTTATTCGAGAGCTCCCTGGGGCTTTCTTCGCAGAGCCCCCCTTGGCTCGCCGCACCCTTCTGAGCCAGGGGTAATTTAGCTTGGGGCTTCTCTTGAGCTTGTGCAACCCAAATTGATGGGGAGGCGGGGCCTGGGGAATTGCCCTTTGCAACAAGGTGCATGTTGCATCTGTCTGGAGCCCTTGCAGATCTGTAAATGCAAGCCGCGCCACCCCTTTCTCCCGAGGGGGGACGTTTTAAAACTTCAGAAGTCTGTAATCAGCAGTGGCGGACTCGGAGCCCAGTAGAAGCCCCAGCCACCTGAGCTGGATGAGGTTTCAGGCGTTGCAAGTGGTGGACAGCGCCCAGCCGAGGCCGGAAAAGTCGATGGGGCTCAGTTCGGCGACGCTCGGCTAGGTTCGGTGCGGTCTGGGCGCGGGGCTCGGAGGGAGTCGGCGGTGTTCGGAGCCGAGTCGGTGCTCCGGCGGAGAGAGCCGAGCCGCTTCGGAGGGGGTCGAAAGCATTCGG
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Task1_train_22648
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This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACGGAGGGCAGTCAGGCTCAGGAGAGGAGGCCAGGAGTCCTGTTTAAATTTTTTTTCTGGATTTTTAAAATGCTGATGATGTCCAGTTTAAGAGCGTGGGGTCTGGAGCCAGTCAGAACTGGGCTGGAATCCCAGCCAAGTGCATTTTCTTTTTTTCTTTTTTTTTTTTTTCTCCCCGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTCCTGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGCTGGGATTATAGGCACCTGCCACCAGGCCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAAATCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGCCAAGTTCATTTTCTCGCAGTGTGACTTCAAGCTTACCTCCCTGAGCCTTGGAAGCCACCCTTCTGTTTTCTTTTCTTAGGGGCATTCTCACAAGGATTGTCACTGGGTTCTATCAGTGAACACCCTAGCTGGCGAAGTCATCTGCCCTTTCCAGCCCTGTGGACATCCATGAGCTGGTCAGCATGCCCATCTCTCATGCAGTGGTAACTGCAGGTCCAGCCAGCAAGCTGGCCCCCAGCAGGTCCTGGAGCAGATGCAGCCTGGGACCCCACATCGTTCTGTGGTTCAGACACTTGGGGCTCCTCCCTGTGGGCTGCTTGTGGTTTGCCCCGGCAGCAGGGATGGGTGGCCTGGCAGGCTCCATGGATCACTGAGTCTTCCTTCAGGCCTGGCCCAGCTCCCCACTTCCTGATTTCCCAGATCCTACCCTGGCTTTAGGTTCAAACTTAACCCACAATGAACCCCAAAGCCCTTGCAGGCAGCGTCCTCTGAGTGCTTGGCCTGAGGCCTGGGCAGGTGACTTGCAAAAGCCTGGTCTGTCCCCACAGCAGGAGGTAGCAGGGGTAAAGAGCCCTGATTCCAAAGACCGGGTCCCAGGGAGGCCCAGCCGCTGTATGGCTGTGCAGCCCTGAGCCTCCAAGAGCATCAAATTGGAAGGGGCACACAGACCCCTTGGTAAGTGAGAAGGAAGTGTGGAGAAGGCAGGGAACTGCTCAGGGGCCGCTGAAGCCCCAGACAGTAATAAAATTATGGCCTCTGGAGCCAAGGGTCCGGGTCACAGCCTCAGGCAAGGTACTTACCTTCGATGAGCCCCAGTTTTAGTACATTTAACTCAGGGAAATTACACATGAAACATGGTTACACATGCAAAGAATAGAACCTATCTGTTGGCCATTATTATCTTTTAAATGAAAAAATGACAAAACAGTATTATAATAAACATGGTAGTCTCATATAAAAGCTTGATCTTGTCTGAGTGTCCCGGGAGCTGCATGCGTAGCCCTTTTGGCTGTGAATGAGTGCGTGAGGCCAAGACCCCTAAGACCCACTTCCTCAGTCGCCCCCACTCCCTATGGCCTGGAATGGAGGTGATGTCTTTTCCACAGTGACCTGGAGGGGCCCTGACCGAGACTGGACTCTGAAGATGGGTGGCCTGGCCAGTCCCGAACAGTGTCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGA
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CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACGGAGGGCAGTCAGGCTCAGGAGAGGAGGCCAGGAGTCCTGTTTAAATTTTTTTTCTGGATTTTTAAAATGCTGATGATGTCCAGTTTAAGAGCGTGGGGTCTGGAGCCAGTCAGAACTGGGCTGGAATCCCAGCCAAGTGCATTTTCTTTTTTTCTTTTTTTTTTTTTTCTCCCCGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCACGATCTCAACTCACTGCAACCTCCGCCTCCTGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGCTGGGATTATAGGCACCTGCCACCAGGCCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAAAATCCTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTGCCAAGTTCATTTTCTCGCAGTGTGACTTCAAGCTTACCTCCCTGAGCCTTGGAAGCCACCCTTCTGTTTTCTTTTCTTAGGGGCATTCTCACAAGGATTGTCACTGGGTTCTATCAGTGAACACCCTAGCTGGCGAAGTCATCTGCCCTTTCCAGCCCTGTGGACATCCATGAGCTGGTCAGCATGCCCATCTCTCATGCAGTGGTAACTGCAGGTCCAGCCAGCAAGCTGGCCCCCAGCAGGTCCTGGAGCAGATGCAGCCTGGGACCCCACATCGTTCTGTGGTTCAGACACTTGGGGCTCCTCCCTGTGGGCTGCTTGTGGTTTGCCCCGGCAGCAGGGATGGGTGGCCTGGCAGGCTCCATGGATCACTGAGTCTTCCTTCAGGCCTGGCCCAGCTCCCCACTTCCTGATTTCCCAGATCCTACCCTGGCTTTAGGTTCAAACTTAACCCACAATGAACCCCAAAGCCCTTGCAGGCAGCGTCCTCTGAGTGCTTGGCCTGAGGCCTGGGCAGGTGACTTGCAAAAGCCTGGTCTGTCCCCACAGCAGGAGGTAGCAGGGGTAAAGAGCCCTGATTCCAAAGACCGGGTCCCAGGGAGGCCCAGCCGCTGTATGGCTGTGCAGCCCTGAGCCTCCAAGAGCATCAAATTGGAAGGGGCACACAGACCCCTTGGTAAGTGAGAAGGAAGTGTGGAGAAGGCAGGGAACTGCTCAGGGGCCGCTGAAGCCCCAGACAGTAATAAAATTATGGCCTCTGGAGCCAAGGGTCCGGGTCACAGCCTCAGGCAAGGTACTTACCTTCGATGAGCCCCAGTTTTAGTACATTTAACTCAGGGAAATTACACATGAAACATGGTTACACATGCAAAGAATAGAACCTATCTGTTGGCCATTATTATCTTTTAAATGAAAAAATGACAAAACAGTATTATAATAAACATGGTAGTCTCATATAAAAGCTTGATCTTGTCTGAGTGTCCCGGGAGCTGCATGCGTAGCCCTTTTGGCTGTGAATGAGTGCGTGAGGCCAAGACCCCTAAGACCCACTTCCTCAGTCGCCCCCACTCCCTATGGCCTGGAATGGAGGTGATGTCTTTTCCACAGTGACCTGGAGGGGCCCTGACCGAGACTGGACTCTGAAGATGGGTGGCCTGGCCAGTCCCGAACAGTGTCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGGCATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGA
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Task1_train_22649
|
Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCT
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TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCCGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCT
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Task1_train_22650
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This is a variant in GNAO1 (G protein subunit alpha o1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCC
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CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGTCGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCC
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Task1_train_22651
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This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22652
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The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; GNAO1-related disorder
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22653
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Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22654
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A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22655
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A genetic alteration is present in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22656
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A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Abnormality of the nervous system
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCAGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22657
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A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Developmental and epileptic encephalopathy, 17
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCCGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGG
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Task1_train_22658
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Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; not provided
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GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGG
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GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGAAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGG
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Task1_train_22659
|
A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Developmental and epileptic encephalopathy, 17
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CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTC
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CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGACGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTC
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Task1_train_22660
|
A mutation on Chromosome 16 affecting GNAO1 (G protein subunit alpha o1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTG
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CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCTATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTG
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Task1_train_22661
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Here is a genetic alteration in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
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CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATATGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
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Task1_train_22662
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This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
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CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATTTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGC
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Task1_train_22663
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This genomic variant is located on Chromosome 16, within the GNAO1 (G protein subunit alpha o1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAAGGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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Task1_train_22664
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The gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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Task1_train_22665
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A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Developmental and epileptic encephalopathy, 17
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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Task1_train_22666
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Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; GNAO1-related disorder
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
|
Task1_train_22667
|
This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Inborn genetic diseases
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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Task1_train_22668
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A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAATGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAG
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Task1_train_22669
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The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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Task1_train_22670
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This mutation is located in gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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Task1_train_22671
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A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Inborn genetic diseases
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACACAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGC
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Task1_train_22672
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The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTATGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGCCTGGTGCTGGGCCTGGCACTGGGTGACCTTCCAGCCTGCGGGCCTTGCTGCCTGGAGCACTTGCCC
|
CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATTTGGACAAGGAGGGGCAGCCTGTCCCTGAGGTGACTTCCAAGGAGGAGGAGGAGGTGGGCTACCAGGGGGCCCTTCCAAGGTCACCTTGGGGGGAGGAGCCAAGAGTGGGGCTGGGTAAGCCCAAGCTACCTCTGTGAGACCCTGAGGACCCAAGTAATCCCAGAGCTGGAAGGAGCAGAGAGAGCTGACCCACCCTCTCCTAGTACGCTTGGGAAGCTGAGGCCTGACAAGAGCAGGGCTTTTCCCAGGCACAGAGCACAGCTAGAACCCAGGGGCTCTGGGGCCTCAGAGCAGGGGCCTGACGGGTGAGCTGGTTCCCAGGGTCCTGCTGCAGCGCTGTGTCCCCACCTGCAGTAACATGCGTGCACTGAGGCCTGCTCCGTCCTGTGGGGAAGAGAGGCCAGCAGAGAAGGGGAGGGCAGGGACCCCTGCTGGGAGAGCTGGATTCTAATATTCCCTGCCTCCCATGTCCCCAACTCCTGCCCGCTCCTGTTCAGACTGAGGGGCCGAGGCTCTGGGCCCAGGAACCCCTAGGCCTCCGCAGATCTGGGGAGCAAAACCTTGGGCAGAGCAGCCCTGAGGGGCCTCTCTTGCCTTCCCAGGCTCCTTGGTCTCTCCTGCTCCCCCACTGGGAGCACAGGATGGGGATCTCAGCTCAACCCAGCCCAGCAAGGCGGGGTCTGAGAATAAGCATTCTGGAGGGGCCACAGAGGCCATCTGCCAACGCCCCTGCATTTCAGATGGGGAGGTGGGATCCAGGGGAGGATCCCCTGATTGATGGAATGAGAACCAGACCCATTCCTTGCTCTGAGCCCACACTAATCTCTGCCTGCAGTCACTCCGTTGTGTCCGGTGGGACCAGAGATCCTTCCCTGTCCCCCTCTGGCAGGCTGTGTGTCAGCAGGCATCCCAGATCTAGGAGGCTACAGGACTCCTCGCTCTGGGGATTGGGGTGGGAGACTGACCTTTTACTTCCAGGACGTAAGTCCCACCTGCCCACAGTCTCTTCCAGAATTTTTGTGCCCCCTCGGGAGTAGAGTCTGAGAGGGGGAAGAGGCCAGGCTCTGATCTGCCAGAAAGGGGCCGTACTGGGCAGAGGTGAGAGCGCCAGCTTTGTCCACAGCCAGACCCAGCTCCACCACAGCTGGACTCTCGCCAGCTTGGGCATGTCCTAAGCCCATGGGTGGCTCACTTCTGCCATCCACATAACAGGTGACATCTCCTGCCTGCCTCCCTCCCAGGCTGGTTTGGAGTTTGCCCAGAGCAAACCCAGGAAGGAATAGACTGAGAGGAGGGTCCTCATGCGAGGAGGACTCTCAGAGGCACTTCCTGGGGGTGGCTCAGGTGCGCCCTCTTAGTAAAATGCTCCTCAGATGCAAGGGCAGGTCTTTGAGTCATGATCTGTGAGCACAGCCAGTCCCAGGACAGACTCCAGGGGTAGTGCCTGGGGATGGCAGTGATCCAGCTGTCTGTCATCACCTGGAGTGACAAGGTCTTCTAGTGAGGGCTTTTAGCAAGGCTCTGAGCACCATGGCCCCCATCCTCTGCCTCTCAGCGTGCTCACAGCTTAATCCCCAGGCAGCCCTCACCTGCCTGGACCCTGCGCCTACCAGCTCCCTGCCTCCTACAGGCTGTTTGACGTCGGAGGCCAGCGATCTGAACGCAAGAAGTGGATCCATTGCTTCGAGGACGTCACGGCCATCATTTTCTGTGTCGCGCTCAGCGGCTGTGACCAGGTGCTCCACGAAGACGAAACCACGGTGAGTGGCCTGGGCCCCCCGGGCAGGGGGCAGCGCTGAGGAGACGGCCGCAGGATAGGCCAGCCCTCTGAGCACTGGGCCTCGGGTGCCCACAATGGCTCTGGGGTCCAGCCAGCTGTTGTGGTTAGAGGTTTCCATCATGGACAGGCCGTGCCGGCACTCCACCAATTCTGTATTGCCAAGGCAAATGCCTCATGATGCCAGTGTGGCAGAGCCTGTGTATGCAACCTGATCACACAGAGCCGTGCAGAATGTGCCTCTTCCATAAACTTGGTGGAGTCACAGAGGCCATCAGGCCATAGCAAATTTAAGCAAACCCTAAAAAAACCAGGAGGCAGCCAAGCAAGAATGTACAGGCAACAGAAATAGCAGTCTTAGCCTGACAGCCATCCCTGGGGCACTGGCGTCAGATGCTGCTGAAGCAGCATGGGGCCGGGGATGCTGAGGGAGAGGTGGGGAGGGCCCAGGATGCTGCAGGAGAGTTGCGTGGGGTTGGGGGTGCTGGGGAGCAGTGTGTGGGGCTGATGGGCCAGGAAGGGCAATGGGGATGAGGCATGCTGGTGAGTGACAGTCGTGGCTCTGGGCTCCTTTGCCAAATGCCAGACCAGGCTCCTACCTTCTGTCTTGCGTCACATTCAGCCTAGGGCCTCAGTGAGGGGACATTCCCCTGGGAGAGTGCAGCCTTCCTCTGGGTCTAGTCCTGGCTCTGCTACTCACTGGCTTGCTGCTGAATTTAGGCAGCACCCTTTCTGGCTCAGTTACTATTTTCCATAAAAGGGAGATAATAATAGTACCTGCCTGTGGGGGGCTGTTGGCAGTGGGGTGGGTGATGCGTGTGCAGCGCTCTGGAGCTGTTTCTGGGACAGCAGCGCCAAGCTGGTGGTTGTACAGTTGCTGGTGATTGCCCTGAGCCTGCAGGTCCACTGCGTGGTCCCCTTCTGGGCTGCAGCCCGCCAGGCACCGAGCATGGCCCACAGGGTCACTGGAGACAAGCCCCAACACTCCTGACAGCGGGGCCCATAGGCTATGGGGTCACAGCCTGGCGTCTGTCATCTCCTTCTGTCTGGAACACATGCAAATCCCCCACCCCACGCCTCTGAAGGCTGGCACCGAGGGTTTGAGGTTGGAGGTGGGGCTTGTTGTCATGCTGGGCCTTGAGCGAGGCCTGTCCTCTCTCTGGGTCTGTTTCCTCGTCATTTCTGGCCCAGCTGGTCCACTGGGCTTTGTGAGGATGGGATCAACTTTGGGGTGTGGGCTACGGGGCACAGTGCTATAGGGAGGAGGAGCCGCCGCCCTGAGGGGCTTACACAGAGTGATGGGGCTTTGGGCTGGTGGTGTGGGTAGTCTGGACCCGTTCCGTGTACAGGCTTACCCACCTGACTCTTCCTATTTCAGGCCCACCTGTACCCCTGACTTGGGTTTCTGCTGTAATTGTTCTCAATGGCATCTGCAGGCAGTGATGTCAGTCACCAGCCCAGTCTTGATGCTGAGTGGGGCAAGGGTGGATGCGCTTCCTGGGCCGTGCTTGGACCCAGACTCACTGACCACCCAAAGCCCAGGTCAGCTTCCTGGCCATGTGCCCCTCACAGTGACTACCCAGACATTTCCCACTCCCCACTGCTAGACTCTATGCTATTACGGCCACTGCTCCAACTCCTGGGGTCTGAGCTCCACTTGGCTCATCTTTTTTCCCCCATGTCCACCACGGTTTCAAAGAGAGCAAAGGAGCTAGAAGCAGGAAGCCAGGAGGGCCCTTCCCCCTGGAATCCAGCCTCTCCCTGGACCTGCCCTGCCAGGCCTGTGGATGGCTTCAACCCAAGTCCCAGGCCCACCGGCCATGGGGCTGGGCTCTCGCTCACCTCTGGAAGATGGAAGCAAGGGACGTCTGGGTGAGCCTAGCAGCCACAGGCCCTGAGCTCTGCAGCCCATGGGTCCCCAGTGAGCATGAGCCTGGTGCTGGGCCTGGCACTGGGTGACCTTCCAGCCTGCGGGCCTTGCTGCCTGGAGCACTTGCCC
|
Task1_train_22673
|
This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGG
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TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGACCCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGG
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Task1_train_22674
|
A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22675
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Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; GNAO1-related developmental delay-seizures-movement disorder spectrum
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22676
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This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22677
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Given a variant located on Chromosome 16 and affecting GNAO1 (G protein subunit alpha o1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Abnormality of the nervous system
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22678
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This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22679
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Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Inborn genetic diseases
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACAAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATG
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Task1_train_22680
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Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Neurodevelopmental disorder with involuntary movements
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GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGA
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GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGGGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGA
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Task1_train_22681
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Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGG
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CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAATAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGG
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Task1_train_22682
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This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Early infantile epileptic encephalopathy with suppression bursts
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GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGT
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GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGTTCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGT
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Task1_train_22683
|
The gene GNAO1 (G protein subunit alpha o1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Developmental and epileptic encephalopathy, 17
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CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGA
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CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGAACAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGA
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Task1_train_22684
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Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Developmental and epileptic encephalopathy, 17
|
ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTTGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGACGTGTGGGCCAGCAT
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ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAATAGGAACCAGGGGCTGGGGCTGGCCGCCTCTACAGGTCATGGTAGAATGATGTAGGCACGGGGGAGATACTGAAGGGAGGACTGGCCGTAAGACGCACGGAGCCCGCCATGCTGCTGTTAGTATCGATTCCTCGAAAGCCCCACAGCCTGCTGATATGGACTGGAGAGACCCATTGCATAAGTTCTGGATCTGGCCCAGCTGTGTCACCGCGGTGTCCCCTCAGGCCAGATGAGGTTAAGTGACATGGGCAGGGAGAGCGCTGGCACAGTGTGGGCCTCAGTGACTGGTGTGGTCACTTCATCTTCATTGCCCTCCTTCTGCTCAGAGGGGGGCGGTGTGGCAGTGGGACCAGCAATTCCTCAGCACCCACGGTGTGCTCACCCCTGGGGGAGGAGGTCATCTCCCCGTAGATGCCCAGTGGCATCTACACCAGCTGTCTTCTTTTTCTTGTTACTTGTGTCACTCTTCTTATTTCAGAGGTAGAGTTTAGCCTGGTTCACCTCTGGGCTTTAGATCCAGAGAGCTGGGTTTACAGTGAGCAAGTTCCCAGGGCTAGGACAGGGTTCTTGGGGAAAATAAGGGAAACTGTCCCTTCCTCCCACTCCCTGTGCAGAAATGGATTCGTTCACAGAGAAAGATGCCCTCTGTGCTGCTGAGAGACAGACTCTGCCCAAGTGAATGAGCTCAGCGCCCCAAAGCAGAGTTTTTGCCCAGGGCAAGAGGCTGCCCCCGTTCGGCATCTGTGGGGCGCCCATCACGTTCATCCATTTGCTAAACAGGCTCCTGTGTGCAGGGCAGCCCTCCACATCTGCCTTGCTTAGAACATCATGCAGTGTCAGATGCAGCTGAGTAGGACCCAGCCAGAGGAGGTGTGGCCAGTCCCCCAGGTGCTCCTGGAGGTGGCCCTGCCAGGAGCCTCTCCCCTGAGTGGTGGCACCCAGGATGCTGGCAGGACCTGGCATGCCTTCCCCTGAGACCATAGGAAGGGCCCGGAGTCTCTCACCACTCCCAGAGAACATCCCCCTACCCAGGATGGGCCCAGGAGGAGAGGTCTAGGCAGGAAGGGCCAAAGCCCAGCTCTCCGGCTCCGGTCCAGACTCCCCCAACGCCCACACACACAGGCACACACACAGGCACGCACACACACTCAAGCACATGGATGCACACAGGCATGCACACACAGGTGCACACACATAGGCACACATGCACACGAACACACACAGGCACACATAACAGGTGCATGCACACACACACAGGCACATGCACACAGCCACACACACGTGTGCTGGGAGACCCTCACATAGCTGGGAACTCTGCAGTGGGGAGAGCCCGGGTCACCCTGTCCTCAGCCTCCCCAGAGAGCCATGGCTGGTGTCCAGTCCAGTCTCTGCCTCTGGCCCCGACATGACGGGTTCTCCGGAAGCAGGGAATGAGATGTGCTGTGAGGTGTAACTGACTCAGGTTCCATCTGGCAGCCTCTCGGAGGAGCTGCCGAGTAGCCCAGTCCCTCTCTGTCAAGCCTAATTCTCTCCTTCTCTTTCCCTGTCTCTGTGTCTCCCTCCCGCTGTCTGTCCTCTCTCCTCCCTTCCTGCGGCCGCAGAACCGCATGCACGAGTCTCTCATGCTCTTCGACTCCATCTGTAACAACAAGTTCTTCATCGATACCTCCATCATTCTCTTCCTCAACAAGAAAGATCTCTTTGGCGAGAAGATCAAGAAGTCACCTTCGACCATCTGCTTTCCTGAATACACAGGTGGGTGCCAGGCAGTCCTGTGCAGGGGGAAGCCTGCCCCTGACAGGGACCCATGGCTCAGAGAACAGGCTGCTCGGCCAGCACTGCTGGGGCTAGCTGGCGAGCGGGACCCATTGCAGGAGACTGGTGGGGCGCAAAAGAAAAACAGTGCTGTGCCACCAGGTTTGGGCTTCCCAGGACACAGCCCTCAGCGTGGTGGAAATGGCCCCTCCTAAGATATATGTGTTAGGACCAAGTGACTCAGGAGTGGTGGGGAGCAGGGGGCAGGACAGGATCACAGGCTTCCCCCTTCCTCCTGGTCACCCTCTAGAAGAGGTCTCAGGACAGCCTCCTGTAATCTCAGCAGTGGCCTCCCCTCACCCCTGCCCAGAGCCCCACAGCACCTTTGCATGAAACCGAAAAGTGGACACGTGGCCTGTGAACAGGGCCTGGACTGCCTCTTGGCCCCACCTGCTTTCCCTGCTCCCTGCTTTGGTGCCCGGAACATGCTTCATCTCTGTGCAGCCGCCCAGCCAGACCACTCCACCCATCCCACATCGTGCCTGCCCTCCCTCCCCAACCCCAGCCCCATTGCGCCTCCTCTCTCCCCTTCTTCCTTCGTCCCTGGTCTTTGCCCCAAATCCAACCACTCCAGCTATCTGCAAGCCTCCTGTATCACTGCCTCCCTTTCTTCTGCCTTCTCTGGGGCTTTCTTCTTGCTCTCAGGGGAATGTGTCACAGACCTTCCCCCCCACCCGGCTCAATGACGCTCTTTCCAAATGGATGGATGAGGGATGGTGGCTTCCGTGGAATGGGCCAACTCTGGGCTACTGCTAATGCCTAAAAGCAGCACTGATGGGATGCCAGAGCCCAGCCCTGGTCCCTCTAGGGGCTGGGAAGCTTCTAGGGGTCCCTGGGGTAGGAGTTGCCTTTGCAGACTACAGAGTGCACAGGGCCAGCACCCTGCCATGGAGGAGGAGGTGTCCTGTCATCCGCCAGGTCAGGGCACAGGTTGGCTCGGCCAGGAACCCATGTTCTGACAGCCCTGGAGTAAGGCTTTGGGCATGGGCTCAGTCTCAGGGCCACACGGGTCCCCAAGCTCAGCCACAGGGTGCCTACATCCAGCATAGGTCGATGCTGGTCTCCCCACCCTTCCCCACAGCTGGGAGCAGTGTGTGAAGAAGGGCTGTCAGCTTGTTCTGAGCACAAACCGTGTCCTCACTGATGGTCCGTGCTAATGTGAATTTGCAAGGTTCTTGCCCTTCCCAAGGTGCAGAGCAGGAGGTGGGGCCAGGAACTGTGCCCTGCACTCGAGGCTCTCCAGCAAAGTCCCAATAGGGCAGAGAGCCCAGGTAGCCTCTGGAGCCAGACCACCTGCAGCTCAGCAAGTTGCTCAGTCATCTGTGCCTCATTCTAATCTGGTCAACACAATGGGTAATCATGCCCACCCCAAGGGTGACTGGAAGGACAGCTGCTTGGTGCCAGGTCTACTGAAGTGCTGGCTGTGGCTGCCATTGGTATTATTCAGAGGATGGAAACTAGGGGAGGGGGAACTGGCCACGGAGAAGGTGCCCTCTGCAGGATGGAGTGAGGGCAGGAGGGCACAGGACAAGCCCTGAAAGGCCAGCCCCAGGTGGCCCTTGGGCAGAGCCAGGCTGTAGCCCACTCTGGCAGCCACTCCTGACCTCTCCCAGCCACAACGATGGAGTCCAGTAGGCCCCCTCAGGCCAGGGCTACCCTCAGAGACAGGCCCAACCCTACGGCTCTTTCTTGCCCAGTGTCCCACTGGGGCCTGACTTGGGAGTGGCCAGTCTCACTGCTGTGGAGTGCAAGCACTAGATGCCCCAGCGAAGGGCAGTTGGAACCTGAGAAACAAGTTCTCCAGGGCCTTCAGAGGAATCCAGTTTGAATTCAGGTATCATGGATGACAGATGGTCACCAGTGCAGTGGCCCCATGGAGTGCAAACCTGTGAGGGCACAAAACAAGCAGCAGGGGTGGGACGGGAGGTGGCCGGCTGTCTAAGGGACGTGTGGGCCAGCAT
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Task1_train_22685
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The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Retinal dystrophy
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22686
|
The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; BBS2-related disorder
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22687
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This alteration in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Retinitis pigmentosa
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22688
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A variant found in Chromosome 16 affects BBS2 (Bardet-Biedl syndrome 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Retinitis pigmentosa 74
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22689
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Given this variant in gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Bardet-Biedl syndrome 2
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22690
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Located on Chromosome 16, this mutation impacts BBS2 (Bardet-Biedl syndrome 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Inborn genetic diseases
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22691
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This variant affects the gene BBS2 (Bardet-Biedl syndrome 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Bardet-Biedl syndrome 2
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22692
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A genetic alteration is present in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Retinitis pigmentosa 74
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22693
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Mutation context: Chromosome 16, Gene BBS2 (Bardet-Biedl syndrome 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Bardet-Biedl syndrome
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTATTTTGCAAACCCCAAAAGAAATAATGAATCTAGGCAATGATCATCAATGGCTGATAATATCATAAAAAGAAACAATCAAAAATTGCATGCTTCCTCATGGAAGTAAACAACACTACTCACGAAGTATTCTTGCCAAAATTTGAAATTGAATCTAATCAAGCCTCCAGATCTACCATTATCTTTCTATACAGGGGACAGAAGAATAATACTAAACATTACCACAAGGATACCACCAGCAAAATCCAAAATGGCACCCCACAGGAGAAGGAGAGAAGAGACTGAGTGGGCAAGCAAAAGTGTGGATTAAAAGATTAAACGATTTCCAACCAAATCCAATGTATGGACTTTGATCTGGATTTTGATTTGAGCAAGCCAACTTAAAACACACATGTCCACATTTATAAGACAACTGGGAACATCTAAACAGATGAGGTATTTGTAATATTAAGCAATTATTGTAAATTTTTCTAAGTGTGATATGGCATTGTGATTTTTATACAGACGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATGTATATATATATATATGATATTGAAAGGCCCTTTGTCTGAAATAGTTGTGGCTAGAATTACACAATGTCCAAAATTTGCCTCAAAATTATCTAGTGCCTGGGAGGGAAAGAGGGTGAGTGTAGAGATGAAAAAAGATCAGTCTTTAGTTGATAACTGTTGAAGTTGGGTGGGTGGTATATATGAAATCATTATATTTAAGTACTTCTGTATGTGTTTGAAATTTTCAACAATACAATTATTTTAAAAACCATTTACCTCTGAGCAAAACCATTATAATTATTTGCCAATAATTCAGGCGTCTCAGGAAAAAACACAAGCAGCACTCTGAGTGAACTCTTGCCCCTAATATATACACATAAATTTCATCTATAATTTGTTAACTATTTTACTGAATTTTTTTCAGTACATTTTATTGGCAAGGTAAATTTGGCATCCTAGCAAGCACCAAGGAAGACCTGTACTGTACATACTTAACTTTTTTATTGTAAAATGTTACATATTCAGAAAAATTCAGAATATTTAATGAAGTTAAACAAGACTTCAGACAGGAAGTTTCCCAATGTGTTTTTTCTGAACATAATCCCTCCTTCTCTAGGAGAAAATACTATCTTATATGATAATCTCTTCCCTGAATTTATATTTTTATTTATTGCATGTTTCCCAAACTATAGTTTACTCTTTTCTCTAACTATACACACGGATACATTTTATAGTCTTTTAAGTCTGTCTTCTTTCAGTGTCCATTATGCTTATCAGATTTTTCCTTGCTCTTATGTGTCATGGAGATTCATGTGCTCTCACTGCTGTGTAGTATTCCATTGCATGAATATATCACAATTCATCCACTGTCGCTACACTGTTCATGCTAATTTGGATTGTTTCCATTTTGAGATTTTTATAAACAATGCCTTTACAAATATTCTTATATAAATATCCTGGTTTATAAGCATACATATAACTAAGCTGTAACTTTCCCTAAGCTATAAACCAGGAATAGAATTGCTGGGTCATAGAGGACATGCATTTTCAACTTTACTGATAATGCCAAGTTATTTTCCAAAGTCACTGTAACAATTTATACTTCTATTGGTAACATCTGAGAGTTGCTATTCCATACTGCTCACATTTTTAACCCTGCACCTGTACTAACCATGACAAATACTCACATGTCCCTCATCAGAGGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGAATGATCAGCCATATCAGCACTGAGCTTCTGATGCACTGAATGATATTCATCCACCTGGAGACCATGAACACTCAGGAATGAAAAAGGCCTCACAAACTTCTTGAACCCAGACAAATGAAAAGACACTATTTACCAGATACAGAGACCCCCTTCTTTCCCCTGTTCGCTTATACCAATTAAGCTACTTCCCGTTATTTCATCTCTGTCTCAACAAGTTAACTCATCTGTGCTGCCTCCAATTTCAACACGACACTCCATGTGAATCTTCCCCATGCTTTAGCACCAGGAGCCCCCACAACACACATATTAATATTTTAGGGATTTGCAGTGGGAATATTGTATACTTTGGGGCCAATCAGAATCATCTTTATTTTGCTCTTTTATCTTGAATTTGGGTTTTTGGAAAGACCCAAACTGAAGAAGACCAAAGCAGATACTACAAATAAGATGAAGAGCTAACAAAGGAAAATGTTAATATTTAAATGCATCACTTTAAACCAAACAAAGCAAGCATGGTGCTCAGGAGCTAAACACTTCCTTTTATAAAATAAATCCTTAAGTAGTAAACTCTCCAATACTAGTTCAATTTTTACTTCAAGAATTGCAAAAATTCTTGAAAACATCACTATAACATAAGTACATTTGTAGTACCATTAATCTCCTCAAATATTATTAGACTACCACATTCTCACAAATGCATCTACCGCATTCCCTCACCTTAACTAGCACCTTTCGTAATTCCTCAAAATAGACAGGAAAATCCGCTTCTACTTGAAGGTCTTCAATAGCAAAAAATGATGCCATTGACTGGATGATATCACCAGCCAAATCAATATCATCAGTATTTATAGTGATCTACCCAGAGAAAAAATAGACAAGTTTAGCATCCTCAGATGTTAGACAAACTTAGCTAAAATAGTACCTGAATTTCCCCATACTCAACAAAATTATTGTGCATATATATATATATGCAGTGTTGAAAAAGGAAAGTTTAGCTCTCAAAGAAATTACAAACTGCATTATTTCCAGCAGCTAGCTAAAAGGTAAATCCTCTGGCCTTAGAAATTAAATGACAAAATCATCCAAACATTGAAAATGTTTTTGTTGACCTCTGTATTCCCAATTCTTTCCAAATTAGACAAGGAAGAGATGAAGGGAAGGAGGCAGAAAACAGCTATTCCAAATTATACCCCAGTGTCTAAAATGGTAACACTAACAGACTAAGTTAAACCATGTGAAAAAAATAAAACAAAACGTGGTTTTATGACCTTGACATTGATGTCCCCCACCTCACTTTGGACTGAATGGTAAACACCACATGAGAAATCTATGCCCCTCTCATTCCATGGTCTAAGTGTTTGAATAAATAAATTCAAAAAAGAAATCTATGCCCCGTGATATTAAACATTACCTCTCCACTAAGTTTTATTTTTATATGCAGGTGGCCGCCATTCCGTAAAGATGTGAAACACACTTGAAATGGAGCATTCTGAATGTGAGTGTCTTCTGGTAACAGAAAGTTCTGACCGAGCCATACAACAACCTTGAAAATGAACACAATGAAATGACCTCCATTTTTAAGGTACAGACGTTCTTTTTTTTAATGTGCCTCTAGATATGAAGGTACAGCCATTCTTGAGGGAAGAGTTCTCCTTCTTTCTAGTTTTACTGCTTTGTTGAGAAAAAAAAAAAAGAATTATACTTCATCCCACACCAAGAAAATACTAAAACACTAGTCACATTCCCTTTTCTCACCTCACCTATGCTCTTAAGTAACATTCATAATTATGCCTGGCCCCACAGCAGACATGATTTCATAGCATCTTCTACTTAGACATAGTCTTATATGCAATGTACAAATGATTCAGGTATGATGCTGATTCTGTTACACAACAGCTCTTCTGTGGGTATAACCTGGACAATGTAGCGTGCTTAAAACCATTCCATTCTATTCTTTAAGAAATGTAAAATGAAGTATACATGGGCAAACACCACAGATATATC
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Task1_train_22694
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Gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Bardet-Biedl syndrome
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GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCTGCAGGGAAGAGTAAAAACAGTTTAAGAACAACTCCAACTTTGGGAAGCTGAGGTGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCTTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGACAGAGGAAGACTCTGTCTCAAAAAAAAAAAAAAGAATGACTCCAAGATGGCACAGGTGCCTCTAAATACCAGCTGTGAGTACTGTCTTACCATTAGAAGTGGAAATGCGTAATTCTGTATGAGCAGTTTGGGTCTCATTCCCCAGGCTGACTGAGAGCGTGGTGTGGAGCCTGGTATTGGCTGGGATTATGCCCCGATGCCCATCAGCCTCGTTCAGTGGACTGGCCAATTCAGCCTGCAAAACACCCCACCCATTTCCTACTCAGTCACCAAAACACTGAACTAATATCAATTTTAAATAATATTGCTATTCAGCTTCAAAAGACAGAGCCTCCAGCATATTATTATTATTATAGTAATCTGATTCTTTAGAATTCAGAGAACTCACCTCATTAGTGCTCCCTTGCTCTATCTGGCCCTGTGGGAAAATACCCTTGCATCTTTCTATGGGTATGGTCCACTGTATCCCATCATGACTTTAACATTTTTGAAGTATTGTTCTTTTAAAGTAAGCAAACAAATTCCCTTGTTACATCAAATTCAAATACAGTAATGCATTACAGGACAAATTAAAGGAATATTTCAGCCAGTTTGCTGTATGCACACACACAGTTTTTACAGTTGTCTGTTTTTAACATGTTTGTTTTTGAAAAAGATAAAAGACATTCTATATTGTTCTTGCCTTTTGTCACTTGGTAAGACGACAGATATCCTTCCATATCAGTCCAAGTATTCATTCTTTGAGCTGCTTAATATTCCTTAGCACATACTCCCTACTGCTGACGAACATCTAAGTTTCTTCCAGCTGTTTTCACTGCTATAAATAAATAGTGCTGCAGGAAATGTCCTTAAACAATCAGGAAAACATTTCTACAGTTTAACTACCTGGAAATGAAATTTCAAGACGAAAGCATATATCCCCTCTCAATTCTGACAATGGCAAAAAGGCCACACCCTGGCAATGACACTCTCATTCTTCCATATTTGCTGATCCTCCCGGTCAGTCTCAACATTTCAGCCTCCATTACCTGGTCACATTAGGACCTACACCTACCTTGGCATTTTCCTCATAGTTACGGAGTTCCAGCAACAGATTCTGCTTCTTCTGACTCAGCTCTCGGATCAGGTCCTGCTCTGCACTGGTGTCCATGAGGTTGCCCCTCATCTCAGCCGTGCCAGGCAGGTAGCCCCGGACTGAACAGAAGGAAAAAACCGCAAGTATAACCAGGTATACTTTTAGGTCATCAATTACCTGCTCTTAAAAACAAAAACCTAAGTTCTCCCCAACTTTGGTGAATTTATTAGAACTACAGGATCTCGGTACAAATACTTCAGGTGAAATTTCCTGATATTTTGACCCAATCAAATGGAAAACGTGACTTTTTAAGGATTTTTCTCATCCCAATTTACTTTCCCCATCCACTGAGCAGCAGATTAACTGTATGTGGCCATCCATCCGGTAATCTCCCTCTACCACACCGGCAATTGCAGAAGAAAAATTGTCCTTAAAGATGACCTCCCCAGTTCGGTCACTTCGAGCATCAACCTACAAATAAAACACAAATTTAAAAGTTGCTTATGCTACATGTTTAAAAACCACAAAATTTAAAAATAAAAATCAGCTTTAAAGGTCATTTAGTCTAGCAGTTTTCAAGAGTATTCTATGAAGCCCTACAACTTCTCAGGAGATACCTATGACTGCTGGGGCCAAGAGGGACCCTAAAGAGCCTCAACCAGCTGTGCTTCCTTCTTTTTAAATAAAAGCTGTTTTTCATAGGCCTTCACACAATGCTTCACTTGAAGAAACGGGTCTGCTAAGAGCCAGTACATATAGTACACACAGCACAGTGCAAAAGGGCATGGGCTTAATGGCCAAACCGCTCAGGTTCAGAATCTAGCTCTGCCACGTACTATCCACAGCATCTTGCAAGTTTCTTAACCATTCTGTGCTTGGTCTTTTCATCTGGGGTTCAATAACCAGAACATGGAGAAATTAACAGTACTATATCCCATTGGGTATAACTGAGGCCTAATGAAGTTAACATATATCAACAGGGCCTGACACACAGAAGTACGTAATAAATGTTAGCTCTATATAAAAATTGTATCTTTATTATATATAAATGTATAAAGTATGTTGAATCTGAAGTTCAGAAACTACGGAGTTAGCCCAGTCTTCCACCATGCAACCTTTTACAACAACCCTGTTAAGAGTTCCTCTTCCACATAAAAACTATTCAGATACTTTAGAGAGCTCTCCTATCCTCTAAGTCTCCCATTTCCAAGAGAGAGAACAAATAAATAAATGACTGATCAGAAACAAATGCATCTCAAAAGTGATAATAAGTGACCATCACTTAAAATGAAGATTATGAGGCCGGGCACAGTGGCTCACGCCTGTAATGCCAGCACTTTGTGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGACAAAGTTAATTGTCT
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GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCATGAGAAACTTTGGGTAGACAGAACCATTAAATGGTTTCTCAGGCCCCCAAGAATCCACTGGGCATATGGAAAATTTATACATCTTGCCCTCCTCTAAGTGCTGTCCTGAAATGAACTGTGACTTGCAAAGGGTCACCTGCTTCTGTAACCCACGAATGCCTTCAAGTGCAGATCCACAGGGACATCTTTGGGAGGCACAATAGGGATGCAGATGGAACTGGAGAGGTTGTGAATGCTGGGATGTACCACGTGGCTTTCACCTGTAAAAATTCCTTCTGCAAAAATCAATACTGCTCGGATGATGGTGTCTGCAGGGAAGAGTAAAAACAGTTTAAGAACAACTCCAACTTTGGGAAGCTGAGGTGGGCAGATCACGAGGTCAGGAGGTCGAGACCATCTTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGACAGAGGAAGACTCTGTCTCAAAAAAAAAAAAAAGAATGACTCCAAGATGGCACAGGTGCCTCTAAATACCAGCTGTGAGTACTGTCTTACCATTAGAAGTGGAAATGCGTAATTCTGTATGAGCAGTTTGGGTCTCATTCCCCAGGCTGACTGAGAGCGTGGTGTGGAGCCTGGTATTGGCTGGGATTATGCCCCGATGCCCATCAGCCTCGTTCAGTGGACTGGCCAATTCAGCCTGCAAAACACCCCACCCATTTCCTACTCAGTCACCAAAACACTGAACTAATATCAATTTTAAATAATATTGCTATTCAGCTTCAAAAGACAGAGCCTCCAGCATATTATTATTATTATAGTAATCTGATTCTTTAGAATTCAGAGAACTCACCTCATTAGTGCTCCCTTGCTCTATCTGGCCCTGTGGGAAAATACCCTTGCATCTTTCTATGGGTATGGTCCACTGTATCCCATCATGACTTTAACATTTTTGAAGTATTGTTCTTTTAAAGTAAGCAAACAAATTCCCTTGTTACATCAAATTCAAATACAGTAATGCATTACAGGACAAATTAAAGGAATATTTCAGCCAGTTTGCTGTATGCACACACACAGTTTTTACAGTTGTCTGTTTTTAACATGTTTGTTTTTGAAAAAGATAAAAGACATTCTATATTGTTCTTGCCTTTTGTCACTTGGTAAGACGACAGATATCCTTCCATATCAGTCCAAGTATTCATTCTTTGAGCTGCTTAATATTCCTTAGCACATACTCCCTACTGCTGACGAACATCTAAGTTTCTTCCAGCTGTTTTCACTGCTATAAATAAATAGTGCTGCAGGAAATGTCCTTAAACAATCAGGAAAACATTTCTACAGTTTAACTACCTGGAAATGAAATTTCAAGACGAAAGCATATATCCCCTCTCAATTCTGACAATGGCAAAAAGGCCACACCCTGGCAATGACACTCTCATTCTTCCATATTTGCTGATCCTCCCGGTCAGTCTCAACATTTCAGCCTCCATTACCTGGTCACATTAGGACCTACACCTACCTTGGCATTTTCCTCATAGTTACGGAGTTCCAGCAACAGATTCTGCTTCTTCTGACTCAGCTCTCGGATCAGGTCCTGCTCTGCACTGGTGTCCATGAGGTTGCCCCTCATCTCAGCCGTGCCAGGCAGGCAGCCCCGGACTGAACAGAAGGAAAAAACCGCAAGTATAACCAGGTATACTTTTAGGTCATCAATTACCTGCTCTTAAAAACAAAAACCTAAGTTCTCCCCAACTTTGGTGAATTTATTAGAACTACAGGATCTCGGTACAAATACTTCAGGTGAAATTTCCTGATATTTTGACCCAATCAAATGGAAAACGTGACTTTTTAAGGATTTTTCTCATCCCAATTTACTTTCCCCATCCACTGAGCAGCAGATTAACTGTATGTGGCCATCCATCCGGTAATCTCCCTCTACCACACCGGCAATTGCAGAAGAAAAATTGTCCTTAAAGATGACCTCCCCAGTTCGGTCACTTCGAGCATCAACCTACAAATAAAACACAAATTTAAAAGTTGCTTATGCTACATGTTTAAAAACCACAAAATTTAAAAATAAAAATCAGCTTTAAAGGTCATTTAGTCTAGCAGTTTTCAAGAGTATTCTATGAAGCCCTACAACTTCTCAGGAGATACCTATGACTGCTGGGGCCAAGAGGGACCCTAAAGAGCCTCAACCAGCTGTGCTTCCTTCTTTTTAAATAAAAGCTGTTTTTCATAGGCCTTCACACAATGCTTCACTTGAAGAAACGGGTCTGCTAAGAGCCAGTACATATAGTACACACAGCACAGTGCAAAAGGGCATGGGCTTAATGGCCAAACCGCTCAGGTTCAGAATCTAGCTCTGCCACGTACTATCCACAGCATCTTGCAAGTTTCTTAACCATTCTGTGCTTGGTCTTTTCATCTGGGGTTCAATAACCAGAACATGGAGAAATTAACAGTACTATATCCCATTGGGTATAACTGAGGCCTAATGAAGTTAACATATATCAACAGGGCCTGACACACAGAAGTACGTAATAAATGTTAGCTCTATATAAAAATTGTATCTTTATTATATATAAATGTATAAAGTATGTTGAATCTGAAGTTCAGAAACTACGGAGTTAGCCCAGTCTTCCACCATGCAACCTTTTACAACAACCCTGTTAAGAGTTCCTCTTCCACATAAAAACTATTCAGATACTTTAGAGAGCTCTCCTATCCTCTAAGTCTCCCATTTCCAAGAGAGAGAACAAATAAATAAATGACTGATCAGAAACAAATGCATCTCAAAAGTGATAATAAGTGACCATCACTTAAAATGAAGATTATGAGGCCGGGCACAGTGGCTCACGCCTGTAATGCCAGCACTTTGTGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAAATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCGAGACTCCAGTCTCAAAAAAAAAAAAAAAGATGATTATGTTCCAGGCAAGGACACAGGTATTATCAACAAAAGGCTAGCTACAGAAAATCTAGCATAGCAATCATTTCGATGACCAATGCTACTCACTAGTTTTGTCTTTTCATAAACAATCTTCTGGGCAAAACTTTGCAACCAAAACATAAAGTAATTTAGGTTACAGCCTACCCCTTGTCTACAGTATATCACTGTCAAGTATTAATGCTATTAATAACATCATGGAAGCCTGAAAATTATGAATGCTAAAGCCTGTGAAAGAACGAATGACCTGCATTTTTAACAAAGCACATTAATGTAGCCCTCTAACTCAGACTGACCTGAACTTGCTTCTTTCTAGTTAAAGCCTAGCTACCTAATGGCTTCTACCACTGCATTTCCACAATATTTAGCAAATAAGAAGGCTCATTTGCTAACTAAGAAGCAGGACTACAAATTAATATTTCTGTGGATATTCTGATCTTTTGCTTAATCCAACTGGGAGGTTTTACCCTGAAAGGAAAGGATGGCCCTCCAACTCATCAAATGACATACAAAAGACAAAGTTAATTGTCT
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Task1_train_22695
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A mutation on Chromosome 16 affecting BBS2 (Bardet-Biedl syndrome 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Bardet-Biedl syndrome 2
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ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGCCTCAAAACAAACAAACAAACAAACAAAAAACCAGAACACCATTTTCCTCATCTATAGAAATAATAATAATTTATCTTCCTATTAGGGTTGTTGTAAGGATTCAATATGTTACTTCATATAAAGTACTTAGAGCACTACCTGGCATACAATAGGTACATAATAAATGATTGCCATTATTATTATTTGCATGTATTAACTCATTAAAAGAAATGCCTTTATGTATTCAACTATATGCAATAATTTTTCTCTATTTAATCAGTCTTTTCAAAATATATCTTAATTAGGATTTTTATTGCTTTTCTTACCATAACATACAGCTCTGTCTGACCCCCTCCCCAAGCTTTTATCCTAAAACCACCTGGGTTTGGAGATGCCCCAGCACTCTCACTTGATGTTTCATCTGACAGTACTGATCTATCTTGCTCAAGGTTACCATAGTTCGAGGTGGAGCTTCTTACCTCTGTTTCTGTCATTTCTGCCACAATCTCATCTTCCTTAAAAACTCGGATATCAAAATCCTCAGATCCAACAAGAAGCTGAAGGGGAAATATCATACATGTTCAGGTGAGTAAGTGCAAACAACAAAATTTCTGTAAACAAAACAAAAAATTGCACAGTACTTTGCATGCTGCTTCTGCCACCCAAGATTGACAACCTCATAATCGTTTGATGCTCAGAAATGCTCCCTCTAATGGGAGGATCAGCAGATTCAATCAATGAAGGAACAGGGGCTACTGCAGCTTTTATCCTGCCATGGGAGCTGCACATCTTGCCAGAATACGTTATTTCCCTGAGTACCTGAAAAGGCTCCCTGGATCAGCAACTTTCTCTGCCTACAGATGGAAGCCCTGTTCAAACACCAGAGTCCAGTGTCCATGGACAAGAGAGGGGCAAGTCGGTGCCCAACACAGCACGTCACACCTACTAACTGCTCAAGAAGCTAATTTCTAGGGTAACCATAAGAATAATTTCAAAGGCTAAAAGCCAATCTCTAAAACATTTAGATTCCTCAAAACAGTTGGCCAAAATTGAAAACTATATACTAATATGGTTTCAAAGCATCAGGAGCAATTCATAAGACCGTGAATATGACTGAAATCCCAACTCTTCTACCCTCTCTGCCCTCTCCTGTGTCTCTGAAACACCATGGCTTTGATCTTTGTATTTATTACACAAGCACAAGTGATTTATTGTTCAAAAGAGAAGAGAAAGACGAATGGGGCCAACTGGCTGAGCATTTAGGCAACAGAGCACCAAAATCAGCCAGGAGAAGCTTACACTTCTGTCAACACTAATGTCACTGTCATGGCAAAATTCATTTGGCTGAACACACAAGAGAGATATCTCCTCCCCCACATACCTCTTTCTTTCCATCACCATCAAAGTCACACAAGGCCAAGGAATTAACATTGTCTCCAGTAACCTGAAAATAAAACCCCAAACCATTAGCATGCCATCGTTTCTCCATTTACTCCAAATATATTAGCTACATGAAGGAGAGGATTACACAAAACACGAATGAATGCTATTCGAATTATTCATATCCTTTTTTAATGCACAGAATTATAAATATTATTACTCAGTAGAGTTGGTGGTTAAAAAAGAACATTAAAAGTAAAAATGCTTAAGGGTACCAAAAAGAATGTTTTCTTCTTCATACCGTCCAAAAGAGATCACTTCCTTCATGATTGAAACCTTGCAGAGCACAATTGCCACCAATAATCGCAAGAGGGGAAGAAATGTCTCCCAATGTCCCCAGCACAATTGCATTTGCCCCATCTGCTACCTAAGAAAAGTAAAAGGACACATTATCTTAGACACGATAATATGCAGGCCCACATATTAATTGGGCCAAATTTTGAGTAAACTGAGCAGATTTTGAGTAAAACAGATTATTATCCATAATGTGGGTGGGCCTCACACATTAACTGGCCCACGCACATATGGATAATAATCTACTTTACTATTAAGTCCTTCAATACTTTCTATTAAGAACTTTCTATCAAGTATTGAAGGACTTAATAGAAAAAAGACTGACCTCCCCCAAGGAAGAAGGGATTCTACCAGCAGACAGCCTTTGTACTTGAGCTTCAACATCAATTCTCTCCTAGATCTCCAGCCTGCTGGCCCACCATGCAGATTTTTGACTTGCCAGGCTCCACAACTGCATAAGCCAATTCCTGAAAATAAATATTTCCCCCTCTAATATGTACATGTCCTATTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTCCTAAACTCGATTTCACTTCTGAACAAAAACGATGTGACCTTGAAATAGGCAAAGGGCAGAAAAAGTCCTAACCACTAAAGAAAAAATGTGATCAGCTGGACTTCACAAAAATGCAAAACTTTTGCTCATCAAAAGACACATGCCTAGTGGAACAAGCCACAGGCTGGGAGAAAATATTTATTATATATAAATCTGACAAAGAGTTTGTATCCAGTATATCCAAGAAATGTCTACAAATCAATAATAAAGAGACAAACTACCAATAAAAAATAGGCAAAAGACTTAAGACACTTCACGGAAGACACATAAATGTCCATTTATGCACAAGAAAAGGTGCTCTGCATCAATGATTATCAGGGAAATGCAAAATGAAACCACACCTAAGATATCACTTCACACCTTCCAAAATGGCTAAAATTAAAGACTGGCAACAACAAATGTTGACAAAGGATGTGGAGCAACTGGAACTCTCCTACACTGCAGGCAGGAGTATAAAGTGATACAACCACTTTGCAAAAACAGTTTCACAGTGTCATAAAGTTCTTATAAACCACATAGCCCAGCAATTCCACTCTTGGGTATTTACCCAAGATAAATTAAAACATATATCTACAAAAAGTCTTATATAAAAAAGTCTTATTAAAAACAAGTCTTAAACAAAAATGGTTGTTAAAAACTGAAACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTA
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ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGGAGTAAAACTCTGCCTCAAAACAAACAAACAAACAAACAAAAAACCAGAACACCATTTTCCTCATCTATAGAAATAATAATAATTTATCTTCCTATTAGGGTTGTTGTAAGGATTCAATATGTTACTTCATATAAAGTACTTAGAGCACTACCTGGCATACAATAGGTACATAATAAATGATTGCCATTATTATTATTTGCATGTATTAACTCATTAAAAGAAATGCCTTTATGTATTCAACTATATGCAATAATTTTTCTCTATTTAATCAGTCTTTTCAAAATATATCTTAATTAGGATTTTTATTGCTTTTCTTACCATAACATACAGCTCTGTCTGACCCCCTCCCCAAGCTTTTATCCTAAAACCACCTGGGTTTGGAGATGCCCCAGCACTCTCACTTGATGTTTCATCTGACAGTACTGATCTATCTTGCTCAAGGTTACCATAGTTCGAGGTGGAGCTTCTTACCTCTGTTTCTGTCATTTCTGCCACAATCTCATCTTCCTTAAAAACTCGGATATCAAAATCCTCAGATCCAACAAGAAGCTGAAGGGGAAATATCATACATGTTCAGGTGAGTAAGTGCAAACAACAAAATTTCTGTAAACAAAACAAAAAATTGCACAGTACTTTGCATGCTGCTTCTGCCACCCAAGATTGACAACCTCATAATCGTTTGATGCTCAGAAATGCTCCCTCTAATGGGAGGATCAGCAGATTCAATCAATGAAGGAACAGGGGCTACTGCAGCTTTTATCCTGCCATGGGAGCTGCACATCTTGCCAGAATACGTTATTTCCCTGAGTACCTGAAAAGGCTCCCTGGATCAGCAACTTTCTCTGCCTACAGATGGAAGCCCTGTTCAAACACCAGAGTCCAGTGTCCATGGACAAGAGAGGGGCAAGTCGGTGCCCAACACAGCACGTCACACCTACTAACTGCTCAAGAAGCTAATTTCTAGGGTAACCATAAGAATAATTTCAAAGGCTAAAAGCCAATCTCTAAAACATTTAGATTCCTCAAAACAGTTGGCCAAAATTGAAAACTATATACTAATATGGTTTCAAAGCATCAGGAGCAATTCATAAGACCGTGAATATGACTGAAATCCCAACTCTTCTACCCTCTCTGCCCTCTCCTGTGTCTCTGAAACACCATGGCTTTGATCTTTGTATTTATTACACAAGCACAAGTGATTTATTGTTCAAAAGAGAAGAGAAAGACGAATGGGGCCAACTGGCTGAGCATTTAGGCAACAGAGCACCAAAATCAGCCAGGAGAAGCTTACACTTCTGTCAACACTAATGTCACTGTCATGGCAAAATTCATTTGGCTGAACACACAAGAGAGATATCTCCTCCCCCACATACCTCTTTCTTTCCATCACCATCAAAGTCACACAAGGCCAAGGAATTAACATTGTCTCCAGTAACCTGAAAATAAAACCCCAAACCATTAGCATGCCATCGTTTCTCCATTTACTCCAAATATATTAGCTACATGAAGGAGAGGATTACACAAAACACGAATGAATGCTATTCGAATTATTCATATCCTTTTTTAATGCACAGAATTATAAATATTATTACTCAGTAGAGTTGGTGGTTAAAAAAGAACATTAAAAGTAAAAATGCTTAAGGGTACCAAAAAGAATGTTTTCTTCTTCATACCGTCCAAAAGAGATCACTTCCTTCATGATTGAAACCTTGCAGAGCACAATTGCCAACAATAATCGCAAGAGGGGAAGAAATGTCTCCCAATGTCCCCAGCACAATTGCATTTGCCCCATCTGCTACCTAAGAAAAGTAAAAGGACACATTATCTTAGACACGATAATATGCAGGCCCACATATTAATTGGGCCAAATTTTGAGTAAACTGAGCAGATTTTGAGTAAAACAGATTATTATCCATAATGTGGGTGGGCCTCACACATTAACTGGCCCACGCACATATGGATAATAATCTACTTTACTATTAAGTCCTTCAATACTTTCTATTAAGAACTTTCTATCAAGTATTGAAGGACTTAATAGAAAAAAGACTGACCTCCCCCAAGGAAGAAGGGATTCTACCAGCAGACAGCCTTTGTACTTGAGCTTCAACATCAATTCTCTCCTAGATCTCCAGCCTGCTGGCCCACCATGCAGATTTTTGACTTGCCAGGCTCCACAACTGCATAAGCCAATTCCTGAAAATAAATATTTCCCCCTCTAATATGTACATGTCCTATTGGTTCTGTTTCTCTGGAGAACCCTGACTAATACAGTCCTAAACTCGATTTCACTTCTGAACAAAAACGATGTGACCTTGAAATAGGCAAAGGGCAGAAAAAGTCCTAACCACTAAAGAAAAAATGTGATCAGCTGGACTTCACAAAAATGCAAAACTTTTGCTCATCAAAAGACACATGCCTAGTGGAACAAGCCACAGGCTGGGAGAAAATATTTATTATATATAAATCTGACAAAGAGTTTGTATCCAGTATATCCAAGAAATGTCTACAAATCAATAATAAAGAGACAAACTACCAATAAAAAATAGGCAAAAGACTTAAGACACTTCACGGAAGACACATAAATGTCCATTTATGCACAAGAAAAGGTGCTCTGCATCAATGATTATCAGGGAAATGCAAAATGAAACCACACCTAAGATATCACTTCACACCTTCCAAAATGGCTAAAATTAAAGACTGGCAACAACAAATGTTGACAAAGGATGTGGAGCAACTGGAACTCTCCTACACTGCAGGCAGGAGTATAAAGTGATACAACCACTTTGCAAAAACAGTTTCACAGTGTCATAAAGTTCTTATAAACCACATAGCCCAGCAATTCCACTCTTGGGTATTTACCCAAGATAAATTAAAACATATATCTACAAAAAGTCTTATATAAAAAAGTCTTATTAAAAACAAGTCTTAAACAAAAATGGTTGTTAAAAACTGAAACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTA
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Task1_train_22696
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Here is a variant affecting BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Bardet-Biedl syndrome
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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Task1_train_22697
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Chromosome 16 houses a mutation in gene BBS2 (Bardet-Biedl syndrome 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Retinitis pigmentosa
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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Task1_train_22698
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This variant affects gene BBS2 (Bardet-Biedl syndrome 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinitis pigmentosa 74
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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Task1_train_22699
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A variant was discovered on Chromosome 16, affecting BBS2 (Bardet-Biedl syndrome 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Bardet-Biedl syndrome 2
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACATCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTTTATTGGGGTATTGGTTATAGGGATCCAAACTCATTGAACTGTACACAGAAGGTCTGTGCATTTTCATGTATGTACATTTTACCTCAACAAAAAATAGACAAAGAAGAAAACCAGCCAAATGCAGTGGCTCACATCTATAATTACAACACTTTGGGAAGCTGAGGCAGGAAGACTGCTTTAGCCCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAGACCCTATCTCTCTAAAAAATAAACAATTAGCTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGAATTGCTTGAGCCCATGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGAAAACAAAAACAAAAAGAAAGAAAACCATCTGCATTTTCAGGAACTTATCCTCAGGAAATAATCAGGGAAGTGGTCAAAGAGATACAGTTATTACACTATGAACTGTAATACAGAAACAATGGAAATAACATAAATGTTCAACAACATGGAACGGTTAAACAAATTACATTAACACAATGAAATACTACAGAACCAATAAGAATGACATAACGGGTATGTAGTAACTTCATATAAAGATGTTCACAACATATTATTGAATGAAAGAGCCACACATAATAGCCAGGGAGTGGAATGTCCATTAACTGATAAATGGATAAATAAAATGTGGTATATACATACAATGGAATATTATTCAGCCATAAAAGTGAATTACTGACACATGCTACAACATGGATCAACCTTGAAAATATCATGCTAAGAAAAAGAAGGCAGTCACAAATGATTACATATTATATAATTCCATTGTTTATGAAATGTCTAGAATATGCAAACTTCTAGAGACAGAAAGTAGATAACTGGTTGCCTAAGGTTAGGAGGTTAAAGAAAAATGGGGAGTGATACTAATGGGTATGGGTTTTTTAGGGGGTAATAAAAATGTTGAAAATTGATGATGGTGATGGTTGTACAGCTCTCTGGATACACTAAAAACCACTGAATTGTATACTTTAAGTAGGTTAGTTGTACATGTGAATCATATCTTAATAAAGCTGCTATAGGGTAAAAACAAGTAAAAGGCTACATGTATATATGACCCCATTTTACTACAAAATGTATTCATATATGCTTGGTAAAAAATCTGGATTCAAAAACTCAACAGTTAAGTGCTCTTTCTAGATGAAAAAATAGGTGTAATTTCTTTTACTTTTTACTTCCTTATCTTTTCTGTAACAAATATGAATTGCTTGGGTATTAAAGTTGCAGCAGCCTGTAGGTGGCAGGCTACAGTAAGGGCTTCTACAAACTATTGCACTAAACTTGAATGCAAGTCCACCAGGAGACCTGTCTATTGGCTTCCCAGCTCTTGGCTGAATTCTCAACAGATCTTGACAGATGGCAGTATCACAGATATACCTCATAGAGATAAGCTCGAGTGTCACCAAGCGATTAGCAACCATAACCAAATAAATAAGTTCCGAGTACATAAAGCAGATGTTAACAGCAAAATCTCCATGTTGTTTACCTATACTATAACAGTCATACAACAAACAGACCAAAATAAATGATCTGATCTCTTCTAAGCATAAAAAATGGACATTAATGAGTAATGACAATTTTATGGTTATAAAGGTTATACTTGCCTCTCTGTAGAACAAATCCGAATTATTGTAGACAGCATAAGCCAAAAGATTAGTCTGTGTCCCCACTAAAAGGGCATCATAGCCAAGCTCAGGGTTCAATACGCCTGCAGTCAGACAGCTGACTGCCTGGTTAATGCTGAGAAGAGAAACATCAGATTCCAGGGGGCTCTGGAAGACCCTGGATGCACTGACATGCTGGTTCCGTGTATGAGGATTATGAATAAAAACCTGAAACAAAAATAACTAATTACATTCCCTTAAAATATAAAAAATTAGTATCATACATTTTTTTAAAAAAGAACCAGGTTATTAACACATCCACATTAACAAGAGGTCACTTTAATCTCCTATGAAACTTAAAACACTCGTACATAGTTCAATGCATGGACAACTTTCAGTCATTATGAAATCACGGAAATCCAGTGGTTCTTAGCCTTGTAAGGAACAAGGTAATGAACAAGATCTAGTCACTGCTTACCAGGCCAGCTTACATGCTACCCACCAGCAGGATGTCAAAGCACTCTTAGGAGCTAGCCTTTTCCCGATCAACCTAGAATAAGCTGCTACCACCTTCAATGTGATTGCCACACACCAAGAAGATCATGGAAAACAGAATAAACACTTCCTTTATTATCTTTCATCCAAGCACCTAATGAATCACTTCCTAGACCTTAAAATGGTCTGCTAGTTAGTAAACCTGTTTCACAAACTTAAACCGAGTCATGCAAATCAAGTATCTTGAAGGCTTTCACAGTTTATACCAGTGACATAGAACTAAGTAATTAGCCCAAAGATAATAAATTCAACAGTTTCAACTATCATAAATATAATCTGAGTGTCTGCATAAATTATTCAACTTTCCTAGACTTCACCTGTAAAAAGGAGGTTTGGACTATAAAATGCAGTCTTAAGAGGGGCGAGATCACTCCCAGGACAGGTAAATGGGTTTGCGATGGGGAATCGTGTAGCCCTTCGCAGGACCACAGTACAAAAAGAGATACAAAGTATATCTGAGGTATCAGAATTTCACTGGGAAAATTTTCTTGGTCTAAAAAAGTTCCAAGGTGGGCAATATGACCAAAAAGGTTGGGAGGATGAAAAACACTGGACTAGGGATCCCTCTAGCCCCTTCTAGTTCTAAAATTTTTAAAATTTACATGAGTATTTCATCTCTTTCACATAAATCCAAACAGAATTAATTTTAAATTAACACCTACCCAAGGCAGCCTATTCAACAAAAAATAATTTTCAAAAGAATTGACTAAAAACATAGAAAACGTGCAGCCACTGAACACTGCCTTCATGTTCCGTTTGTGTAACACTTTATAACATGCCTTGGTCAATGTTAATTGCATTTGAACCTGACACCAACCCTTCATTTCCATATGAGGTCGGAAGAGTTAAGGCCCTTTGCCAAGGTCTTGAGACTGGTGACAGGGCTAAGACAAGAGCCTGGTGTGCTCCAGGCCCTGCGCTCCAGCCACCACCACATCACACTTCCTTTTATAACAGTTCTGAACAAACCAATTCTTACAAAGTTTTCCAGAAATCCAATATGCTGAGAAAGTACAGGAGCAGAAATAGCTTACGGGCTCCATATTCATTCTTACCGGAATGGAAAGAGTTTGCAATTTTTGTCAAGAGCAACAAGGATCTCAGGAGTCAGACTTTCCCCCAGTTCCCTCCTGCTGTTCTCTACACTCAAAGAGAGTCCACAGGGAGACAAGTCTGTCCCTTCAGGCAAGGAAAGAAAGCCAATCTCAGTCATACGACAAAAAGACCACTCCCAGGGCTTTCAAAGGACTTGCTGAAGTTCACACTTTTGTTCTAGCTGAGGAGGTGCTGCAAACAATATAAATTCAACTGACCCCTAAGCATTACCATGAGAGAAAAAATGTCCCCAGAGGAAAACTCTAATATTCACCCTGCAAGAGATTCCTTTTATTTATTTATATGTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTCCTAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT
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Subsets and Splits
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