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_16000
|
The gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Abnormal facial shape
|
TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
|
TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGCCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
|
Task1_train_16001
|
A change on Chromosome 11 affects gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Generalized hypertrichosis
|
TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
|
TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGCCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
|
Task1_train_16002
|
This alteration occurs within gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Intellectual disability
|
TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGCCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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Task1_train_16003
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Here is a genetic alteration in KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Gingival overgrowth
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TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGCCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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Task1_train_16004
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Chromosome 11 houses a mutation in gene KCNK4, KCNK4-CATSPERZ (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Seizure
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TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGGCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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TAGCCTTAAAATAATAATAATACTTATTGAGAGGTGCTCAATCAATATGATTTACACTGCAGCACAGGGTTTGGCTTGGGCTTCCTCAGGGGTGGGATGTGTGTGTTTTTGTGTGTGCATATAAACCTCCTAAAAATTGGGAGCAAAATTTTGTGGCATATAAACCTTCCTGGAGAGAAAGTCCCTAGCTTTCTTGAGATTTTCTAAGGAAAGGGACTCAAATTCAGCTTCCATAGGTGCAATGGGAGTGGTGGGGTTGGAAAGCTGGAAACACAGGGTGTGGTCACTGCTTGGGAACTTACTCAACAGTCAGTGCTTACTTTGTTGCACGTTCACAAAAAATCTGGGAGGCAGATGCTGTCACTATCCTTCCCACTTGAGACATGCAGAAGCTGAGGCCAGAGAGTTCACTTGCTCAAGTCCCATAGCACCAACATTTGAACCCAGGCAGTCTGGTCCCAGGGTCTGTGCTCCTGACCATGGTAAAAGTGGAAATTTGTTGTCTGAAGTTAGGGGCCAGATACTGAAAATGTTTCTCAAACATTGTAGAAGTCAAACAAACTCACCTGCAGGTAGACTGGACCCAGTTTGTATCTTCTGCTGTAAGGGACTGCCTCCTGGGAGACCAAAGGGAAGGGGAGAACAGGGAGGAGCAGGGAAGGAGCCACCCTAGAGACTGGAGGGGCCACGAGTTGCCCTAGACAGGAGGGAAGAACTGAAGCTCCTCCTTCTGCACCTTGTCCTGCAGGAGGTGGCTGATGCCCTGGGAGGGGGTGCGGACCCAGAAACCAACTCGACCAGCAACAGCAGCCACTCAGCCTGGGACCTGGGCAGCGCCTTCTTTTTCTCAGGGACCATCATCACCACCATCGGTGGGGGAGGGGATTGGCATGTGGGGGGCGGCAAGGAGCTTCCTCATGGGGGAAGGTGCAGGGAGACGGAGGGGTCCCAGGTGGCCCCTAGACTTCCTGCATCGCCCCTCTGCCCAGGCTATGGCAATGTGGCCCTGCGCACAGATGCCGGGCGCCTCTTCTGCATCTTTTATGCGCTGGTGGGGATTCCGCTGTTTGGGATCCTACTGGCAGGGGTCGGGGACCGGCTGGGCTCCTCCCTGCGCCATGGCATCGGTCACATTGAAGCCATCTTCTTGGTGAGCTGCTCCATGCCCTGCCTGCCCTTGTGCTGGGCTCCGGCTACCCTTCCCCATGTCCCTGGCACATGAGCGCGCCCCCAAAGACCATAAGCCTCTCCCACAGGCTCCTGGGGGCGGGAGTGGGGAGTATGGGAGTGGGGATTGTTGGTGTCTCCTGGGTCCTGCCTACTGCCCCATCCCGCAGAAGTGGCACGTGCCACCGGAGCTAGTAAGAGTGCTGTCGGCGATGCTTTTCCTGCTGATCGGCTGCCTGCTCTTTGTCCTCACGCCCACGTTCGTGTTCTGCTATATGGAGGACTGGAGCAAGCTGGAGGCCATCTACTTTGTCATAGTGACGCTTACCACCGTGGGCTTTGGCGACTATGTGGCCGGTGAGGCCGCCCTTCTTGTGCTGCACTTTCCCATCTACTTTATTCCTGATCAGGGGCTCTGCACTCCTGCCTTTCCCTCCAGATCCCATGTGGTTGCTCTAACCCCTGCATCCATCATGGAATGCACCATCACAGCCTTGCACACACACCAGCGCCTTATGCACACTCACATTCTTATATGCTTGAGTCCCATGCATGCTCACACATATATTAAATGCACCCCTCGCATGTGTCACATTCTTGCACGGGAGCGCCCCTTCTTGCATGCTTTTATCTTGCACACTTTCAACTCATGCACACCACTCATTTTCCTGCCTGCACTCACACACTCAAGCACATACCCATTGCCCTAGGGAGGGCAGGTCCTCTCCAGGAACTGGGAGGGGGGCACTGAACCAGAGCTCACAGGCTTGCCCCACAATCCAATTCTTTCTACCTTCCCTGGTGGTATCCCAGGCGCGGACCCCAGGCAGGACTCCCCGGCCTATCAGCCGCTGGTGTGGTTCTGGATCCTGCTCGGCCTGCCTTACTTCGCCTCAGTGCTCACCACCATCGGGAACTGGCTGCGAGTAGTGTCCCGCCGCACTCGGGCAGAGGTAGGCGCCCCAGGGTTGGCACTGTGCCTGCGCACTGTGGTGCAAATGTGCTGTTCCCTAGCAGGGGGTTGATCAGGCTGTCTCCTATCCAGGGCGTGGGCTCCTGAGGCAGGGGCTGAGTGAGCCTCTGTGTGTGCCCCGCAGGGAACAGAGGGGTATAAGTTTGTGGGTACCTTCACCACCTCTTCCTTCATGGGTAGGATTGCCGGATTTAGCAAATAAAAATGCAGAAAGCCAGCACAGGCAACATGGTGAGATCCCGCCTCTAGAAAAGGCACAAAAATTAGCCCTGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATGGGAGGATCGCTTGAGCCAGGGGAGGTCGAGGCAGCAGTGGGTCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTAAGCCCTGGTCTCAAACAAACAAACATTAACAACAACAACAAAAACAAAACTCAGTTAAATTTGAATTCCAAATAAATAAAATTTTATTATGGCGGGGGGCAGTGGCTCATGCTTGTAATCCGAGCATTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTACCTGGACGTGGTGGCGGGCGCCTGTAATCCAAGCTACTTGGAGGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACACCACTGCACCCCAGCCGGGATGACAGAGCTAGACTTGTCTCAAAAAAAGAAGAAAAAAAAAAAAAAAAAAAAAAAGCATGTCCCAAATATTGCACGAGATATATTTATACTAAAATTTTATTTGTTGTTTCTCTGAAATTCACATTTAGCCAGGCGATTTGTATTTTGCCACCCTGCTGGGAGCACCCAGTGGAGGAGCCCTTCCATCCTTGGGGCTGGCTGAGGCTGGAGGACCAGGCAGAAAAGAGGGTTGGGGTTTGATCCCTGCTGGTGAAGGGGCAGGTTCCCGGGGGGTCGCGGAGGGGGTCTAGACCTCTAGTCGAGGGCTGCTTTCCCTCTCCGTGCAGATGGGCGGCCTCACGGCTCAGGCTGCCAGCTGGACTGGCACGGTGACAGCGCGCGTGACCCAGCGAGCCGGGCCCGCCGCCCCGCCGCCGGAGAAGGAGCAGCCACTGCTGCCTCCACCGCCCTGTCCAGCGCAGCCGCTGGGCAGGCCCCGATCCCCTTCGCCCCCCGAGAAGGCTCAGCCGCCTTCCCCGCCCACGGCCTCGGCCCTGGATTATCCCAGCGAGAACCTGGCCTTCATCGACGAGTCCTCGGATACGCAGAGCGAGCGCGGCTGCCCGCTGCCCCGCGCGCCGAGAGGTCGCCGCCGCCCAAATCCCCCCAGGAAGCCCGTGCGGCCCCGCGGCCCCGGGCGTCCCCGAGACAAAGGCGTGCCGGTGTAGGGGCAGGATCCCTGGCCGGGCCTCTCAAGGGCTTCGTTTCTGCTCTCCCCGGCATGCCTGGCTTGTTTGACCAAAGAGCCCTCTTTCCACGAGACTGAAGTCTGGGGAGGAGGCTACAGTTGCCTCTCCGCCTCCTCCCTGGCCCCGGCCCTTCCCTCACTTCCATCCATCTCTAGACCCCCCCAAGGCTTTCTGTGTCGCTGCCCCGGGCGGGTGTATCCCTCACAGCACCTCACGACTGTGCCTCAAAGCCTGCATCAATAAATGAAAACGGTCTGCACCGCTGCGGGCGTGACGCTCCCGGACGCGAGTGGGTGTGGAATTGCTTTCCTCGGGCCACCGTGGGGGCACCTCTGGCCTCCCGTGACCCCCAGGCCGAGGGTCCCCGGGCACCCAGGTCGGTCAAGTCTCGGCCCTCTCAGGCCCGCGTCTCTGCCTGGAGGAGACTGTGTAGGGTCCGGCGTGGGGATCAGCCAGGATGGGCTGCGCGTCTCCAGCC
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Task1_train_16005
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The variant affects gene SLC22A12 (solute carrier family 22 member 12), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Familial renal hypouricemia
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TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCTTGACCTCAAGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATGCACACACACTTTTTAACTGCTTTGTGTTCTCTGGCCCTTTCGCCTACAGAATTAGCTATCGAGACCAAGGGGGTTCTCTTGGCCTCGGTCCAGCCTTTCCTGAACCCCACACCCTGCATCAGCACACACTGCTGTCCACTCACCTGCCCTAGTAAGTCACCACTAGCTGTTGTTGACTGGGAGCCCCTTGGCTTTTAAGCAGGATTTGACCCAAGGGCTCGCAGTGCGTGGTGGGTCCAGGGGCAGGAGTTGAGGCAGAAAGACAAGGGCAGGGACAGCTGTGGAGTGGGGGAGGTGGGAGAGAGAAATCCTTAGGAGGCAAAACTAGCCAGGCTTGGCCCCTGGTGGATTTGGGAGGCAGGGAGCAGGAGGCGTGAACCAAGACGCTGGGTTCCAGGCCAGACACTGTGACATGAGAGGCCATAGCTGAGGTGGGGCTCTGCAGGAGGCATAGATTTGGGGAGGGGACAGAGATCTCAGGGTGGCATTGGGCACACCGAACCTGGGGAGTCTGTGGGGTGTCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGA
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TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCTTGACCTCAAGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATGCACACACACTTTTTAACTGCTTTGTGTTCTCTGGCCCTTTCGCCTACAGAATTAGCTATCGAGACCAAGGGGGTTCTCTTGGCCTCGGTCCAGCCTTTCCTGAACCCCACACCCTGCATCAGCACACACTGCTGTCCACTCACCTGCCCTAGTAAGTCACCACTAGCTGTTGTTGACTGGGAGCCCCTTGGCTTTTAAGCAGGATTTGACCCAAGGGCTCGCAGTGCGTGGTGGGTCCAGGGGCAGGAGTTGAGGCAGAAAGACAAGGGCAGGGACAGCTGTGGAGTGGGGGAGGTGGGAGAGAGAAATCCTTAGGAGGCAAAACTAGCCAGGCTTGGCCCCTGGTGGATTTGGGAGGCAGGGAGCAGGAGGCGTGAACCAAGACGCTGGGTTCCAGGCCAGACACTGTGACATGAGAGGCCATAGCTGAGGTGGGGCTCTGCAGGAGGCATAGATTTGGGGAGGGGACAGAGATCTCAGGGTGGCATTGGGCACACCGAACCTGGGGAGTCTGTGGGGTGTCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCACTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGA
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Task1_train_16006
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An alteration has been detected in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Dalmatian hypouricemia
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TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCTTGACCTCAAGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATGCACACACACTTTTTAACTGCTTTGTGTTCTCTGGCCCTTTCGCCTACAGAATTAGCTATCGAGACCAAGGGGGTTCTCTTGGCCTCGGTCCAGCCTTTCCTGAACCCCACACCCTGCATCAGCACACACTGCTGTCCACTCACCTGCCCTAGTAAGTCACCACTAGCTGTTGTTGACTGGGAGCCCCTTGGCTTTTAAGCAGGATTTGACCCAAGGGCTCGCAGTGCGTGGTGGGTCCAGGGGCAGGAGTTGAGGCAGAAAGACAAGGGCAGGGACAGCTGTGGAGTGGGGGAGGTGGGAGAGAGAAATCCTTAGGAGGCAAAACTAGCCAGGCTTGGCCCCTGGTGGATTTGGGAGGCAGGGAGCAGGAGGCGTGAACCAAGACGCTGGGTTCCAGGCCAGACACTGTGACATGAGAGGCCATAGCTGAGGTGGGGCTCTGCAGGAGGCATAGATTTGGGGAGGGGACAGAGATCTCAGGGTGGCATTGGGCACACCGAACCTGGGGAGTCTGTGGGGTGTCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGA
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TGGGTTGCCATCACTGCTGCACTGCACATATACGCATGCACACATGTACACACATGCACTTGTGCAAACACATGTGCACACATACACAGACATGTGCACACACCCACATATACATACACTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGATAAGAGTCTTTCTCTGTCAACCAGGCTGGAGGGCAGTGGTGCAATCTCAGCTTGCTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGCTGTGCACCACGACCATGCTCAGCTAACTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAAGCTGGTCTTGAACTCTTGACCTCAAGTGATCCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCATGCACACACACTTTTTAACTGCTTTGTGTTCTCTGGCCCTTTCGCCTACAGAATTAGCTATCGAGACCAAGGGGGTTCTCTTGGCCTCGGTCCAGCCTTTCCTGAACCCCACACCCTGCATCAGCACACACTGCTGTCCACTCACCTGCCCTAGTAAGTCACCACTAGCTGTTGTTGACTGGGAGCCCCTTGGCTTTTAAGCAGGATTTGACCCAAGGGCTCGCAGTGCGTGGTGGGTCCAGGGGCAGGAGTTGAGGCAGAAAGACAAGGGCAGGGACAGCTGTGGAGTGGGGGAGGTGGGAGAGAGAAATCCTTAGGAGGCAAAACTAGCCAGGCTTGGCCCCTGGTGGATTTGGGAGGCAGGGAGCAGGAGGCGTGAACCAAGACGCTGGGTTCCAGGCCAGACACTGTGACATGAGAGGCCATAGCTGAGGTGGGGCTCTGCAGGAGGCATAGATTTGGGGAGGGGACAGAGATCTCAGGGTGGCATTGGGCACACCGAACCTGGGGAGTCTGTGGGGTGTCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCACTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGA
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Task1_train_16007
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A variant was discovered in gene SLC22A12 (solute carrier family 22 member 12), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Dalmatian hypouricemia
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TCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGACTCTCCTTTCCCTGGGGGCTGGGGAGTGCTAGAGGCCAGGGGTGCATGGGCTGGAGGAAAGCCAGGAGCGTGGCAGAGTGTACCACCCACAAACCCAAGACACCCACTTCAACCAGGGCTTGGGTCCCCAGGGCGCCTCCCCTGCTCCTCTCAAGTGCTCCTTCTCCTACTTATTCTTCTCTTTTCCTCCCTCCTCCTCATCTCTTGGCCTATTCTCCTCTCCTGTCCCTGCCTGCCTTGGCATCTATGCTGCCAGGCCCATCTTCTGAGCCCCTCCTCTGTGTGTGCCAGGCATGGCAGCACTGAGCTAGGCTAGGGGAGCGAGTGGAAAGATACAACACATGCCCGCACACACAGCGCACAGCCGCAGTCTGCTTCATGGGCTGACAGAATCAATGCTTGTGTCTGTCTGCTGGAAGACAGGGACCAGGATCCACTCATCAGAGGGGAGTCCACAGTCCCCACAGAGGGCCGGCATGTGTGGGAGGTTAGGAAATGTCAGCACTGCCCTGAAACAAATCAGGCGTGGCCCTTGCCGAGCACCTGGCACATAGTAGGTGCTAAATAAATATTTGTTGAATGGATGAATTGTTAGGTAAGTAGAAATAGATAGATAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGAGACAGATAAATAAATGGGTTGACAGATGTGTGGATTGGATGAGTGGATGGGTGAGTTGGTGGATAGATGGATTGGATTGTATAGATGAATTGAATGGATGGTTGAATGGATGGATAGATGGATGGATGGTTGGAATAGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGACAGACGGACGGACGGTTGGATGGATGGATGGATGGATGGATGAATGGATAGTTGGAATAAATGGATGGATGGATGAATGGATGGATGGATGGGTGGATGGACGGAC
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TCTGTTGATGCTGGGAAGCTCCACCGAGGACTCAGGACAGGGTAACAGCAAAGCGGGCACAGGACGCCAACCACAGCAGGTGAGTGGAGGCAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCCTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGACTCTCCTTTCCCTGGGGGCTGGGGAGTGCTAGAGGCCAGGGGTGCATGGGCTGGAGGAAAGCCAGGAGCGTGGCAGAGTGTACCACCCACAAACCCAAGACACCCACTTCAACCAGGGCTTGGGTCCCCAGGGCGCCTCCCCTGCTCCTCTCAAGTGCTCCTTCTCCTACTTATTCTTCTCTTTTCCTCCCTCCTCCTCATCTCTTGGCCTATTCTCCTCTCCTGTCCCTGCCTGCCTTGGCATCTATGCTGCCAGGCCCATCTTCTGAGCCCCTCCTCTGTGTGTGCCAGGCATGGCAGCACTGAGCTAGGCTAGGGGAGCGAGTGGAAAGATACAACACATGCCCGCACACACAGCGCACAGCCGCAGTCTGCTTCATGGGCTGACAGAATCAATGCTTGTGTCTGTCTGCTGGAAGACAGGGACCAGGATCCACTCATCAGAGGGGAGTCCACAGTCCCCACAGAGGGCCGGCATGTGTGGGAGGTTAGGAAATGTCAGCACTGCCCTGAAACAAATCAGGCGTGGCCCTTGCCGAGCACCTGGCACATAGTAGGTGCTAAATAAATATTTGTTGAATGGATGAATTGTTAGGTAAGTAGAAATAGATAGATAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGAGACAGATAAATAAATGGGTTGACAGATGTGTGGATTGGATGAGTGGATGGGTGAGTTGGTGGATAGATGGATTGGATTGTATAGATGAATTGAATGGATGGTTGAATGGATGGATAGATGGATGGATGGTTGGAATAGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGACAGACGGACGGACGGTTGGATGGATGGATGGATGGATGGATGAATGGATAGTTGGAATAAATGGATGGATGGATGAATGGATGGATGGATGGGTGGATGGACGGAC
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Task1_train_16008
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Here is a genetic alteration in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Dalmatian hypouricemia
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CAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAGACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGACTCTCCTTTCCCTGGGGGCTGGGGAGTGCTAGAGGCCAGGGGTGCATGGGCTGGAGGAAAGCCAGGAGCGTGGCAGAGTGTACCACCCACAAACCCAAGACACCCACTTCAACCAGGGCTTGGGTCCCCAGGGCGCCTCCCCTGCTCCTCTCAAGTGCTCCTTCTCCTACTTATTCTTCTCTTTTCCTCCCTCCTCCTCATCTCTTGGCCTATTCTCCTCTCCTGTCCCTGCCTGCCTTGGCATCTATGCTGCCAGGCCCATCTTCTGAGCCCCTCCTCTGTGTGTGCCAGGCATGGCAGCACTGAGCTAGGCTAGGGGAGCGAGTGGAAAGATACAACACATGCCCGCACACACAGCGCACAGCCGCAGTCTGCTTCATGGGCTGACAGAATCAATGCTTGTGTCTGTCTGCTGGAAGACAGGGACCAGGATCCACTCATCAGAGGGGAGTCCACAGTCCCCACAGAGGGCCGGCATGTGTGGGAGGTTAGGAAATGTCAGCACTGCCCTGAAACAAATCAGGCGTGGCCCTTGCCGAGCACCTGGCACATAGTAGGTGCTAAATAAATATTTGTTGAATGGATGAATTGTTAGGTAAGTAGAAATAGATAGATAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGAGACAGATAAATAAATGGGTTGACAGATGTGTGGATTGGATGAGTGGATGGGTGAGTTGGTGGATAGATGGATTGGATTGTATAGATGAATTGAATGGATGGTTGAATGGATGGATAGATGGATGGATGGTTGGAATAGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGACAGACGGACGGACGGTTGGATGGATGGATGGATGGATGGATGAATGGATAGTTGGAATAAATGGATGGATGGATGAATGGATGGATGGATGGGTGGATGGACGGACGGATGGATGGACAGATGGAATGGATGGATGGATGGTTGGAATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATTG
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CAGGAGCCACGGGTGGGGCCAGGCCACACAGCCTGGGAGGCGCAGGGGCTGGGCAGCTGCCAGTGACCCAAGCCCACACAGAGACTTGCACAGCTGCCCCAGCCCCAAATTAGGGGGATCCCCTGGCCCACCTTCTCTTGGCTCAGCCACTCTGGGAGGTGGGCACACAGGGGCACCGAAGGGAGCAGGCAGCCCTGGCATCCCACAGCCGCCAGGAGAAAAACTTAGGCCTCCCCAAGACCTGGCACAGAGCAGGCCGGCCCTGGCCCCCAAGCAGAGGAGGCTGCACCTCCCTCGCGTCTGTGCCTGCCTCAACGCGGGTTAAACTTTGACCAAGGAAATGATTGCTAAACTCGATTCCATAAGTGTCACCGGTCACACTTTAATTCCAGTCTAAAATTAAAGTCTTCAGTCTCCACATTCCCTACTTTCCAAATTCAGCTTTCCCGGGAGGTCTGGAGCAGCTGCCTCTCTGGGGAGATGCTGGAGGTCTCGGAATCACCTCACGCGGCCTCAGGGCCCAGTTGGAGCCACCCCAAGTGACACCAGCAGGCAGATGACCAGAGAGCCTGAGCCTCCGGCCCCGAGTCTGTGAAGCCTAGCCGCTGGGCTGGAGAAGCCACTGTGGGCACCACCGTGGGGGAAACAGGCCCGTTGCCCTGGCCTCTTTGCCCTGGGCCAGCCTTTGTGAAGTGGGCCCCTCTTCTGGGCCCCTTGAGTAGGTTCCATGGCATTTTCTGAACTCCTGGACCTCGTGGGTGGCCTGGGCAGGTTCCAGGTTCTCCAGACGATGGCTCTGATGGTCTCCATCATGTGGCTGTGTACCCAGAGCATGCTGGAGAACTTCTCGGCCGCCGTGCCCAGCCACCGCTGCTGGGCACCCCTCCTGGACAACAGCACGGCTCAGGCCAGCATCCTAGGGAGCTTGAGTCCTGAGGCCCTCCTGGCTATTTCCATCCCGCCGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGCCAGCCACAGTGGCAGCTCTTGGACCCCAATGCCACGGCCACCAGCTGGAGCGAGGCCGACACGGAGCCGTGTGTGGATGGCTGGGTCTATGACCGCAGCATCTTCACCTCCACAATCGTGGCCAAGGTAGGGCCTCCCCCAGAGCCACTCGAGTCCCACCACCTTGGAGGTCAGTCATGGATCACGGTGGGTCAGACTCAAAGGTCCAGTCCTGGGAGGGACCCACCTCCCCAGGCCCCACTCACTCTCGAGCCTCTCAGCCCCTCGTCAGCCACACACAGGGAAGTGGGCGGCAGGGATCAGTCTACAAATGGGGCCAGCCCAGGCTCTTGGAGGTGCGGGGGGCACCTGGGCGGGCACCTCTAAATGCTGGCACCTGGACACTCACCGGCCTCACCCTGTCCTGGCCCTGCTGACCTGTCAGCCGTGACTCCAGGCAACTCAGCAGCAGGGGGACTCAGTGACAATTCACTGGATTCCCCGAGACCAAAGCACACAGAGTAAGGGATTACCCCAGGCTGCCTCCCAGATGGGGCGCCAGGCAAAGCCAGGCAAGCAGAGAGGGGCAGCTCATCCCAACAAGTGGGAAGAACCTCTTTATAAAGAACAGGAGGGAAGCAACCTCTGGGAGAGGGGTGAGGGTGTCAGCTTGGGTGGCTGCTTCCAAGTGGAGAGACAGGAGAGAGGGGCAGATGTGGCTAGAGACCCATTGGGCAATAGGGAGCCATGGAAGAGTTCAGGCAGAGGGTGGCAGGATATACTCCTCAAAAGGCCAAACTATGCCTGTGGGTGCCCTCACTGTTCCACAGGGTCTTGCTCTAAAACCCTAGAGGTCACCAGACCACCCACCGCACCCAGCTCCCTGGGGGCCCTCCCATGCGGTTCCTCTGCCTCTCTGCTGGGGCTCTCCCAACCTCCTGAGCTCAGCCTCCTCCTCTCCCATCAGTGGAACCTCGTGTGTGACTCTCATGCTCTGAAGCCCATGGCCCAGTCCATCTACCTGGCTGGGATTCTGGTGGGAGCTGCTGCGTGCGGCCCTGCCTCAAACAGGTGAGTACCCCCAGTCCAGGCAGGTCCCAGTTCCCCTCACAACCCCTGCTCTCCTAGGACCCTGGCCGACTGGCCCCAAACCAGCCTCACAAAACCAAGTCTAGAAAGCGCCCTACTTGCTGGGTGTGGGTCTCGGACCAGCCACCCTGCAGCCGTGCCAGGTAGGGAGGTCTGGAACCTTCTCTGAACCTCGAGTTCACCAACTTTACTCTGGGGGTTGTAGAGGATTTCTGCTCCCCAGCAAACATTCACTGCTAAAACTGGCTTGGCCATGCGCCTTCCTTCAGCAGCAACCTGAGTGCTCCTGGTGACTGGAGCCCATTCCCTTTGGCTCTGGCCTCGGGACTCTCCTTGTGCTCCGGAGGGTTCCGTAGGTGGAGAATGTAGGTTTCACCCAGGTGCCGCTTCAGTGTCCGCCTCAGCTCAGCGGGCAAGCATAGGGTGGGCTCTAGGTGTTCCAGAGCCCCGTGGCCTGTGCCGTGGCAAGCCACAGACCCTGCCTCTTCCTGGTTTGTGCCGCAGGTTTGGGCGCAGGCTGGTGCTAACCTGGAGCTACCTTCAGATGGCTGTGATGGGTACGGCAGCTGCCTTCGCCCCTGCCTTCCCCGTGTACTGCCTGTTCCGCTTCCTGTTGGCCTTTGCCGTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTCTCTGACCTGGCGCCATGCAGGGGGGCTCCATGCAGGCTCCAGGGCTGAACCACTCGGTCTCCTTGCAGTGATGGAGTGGACGGCGGCACGGGCCCGACCCTTGGTGATGACCTTGAACTCTCTGGGCTTCAGCTTCGGCCATGGCCTGACAGCTGCAGTGGCCTACGGTGTGCGGGACTGGACACTGCTGCAGCTGGTGGTCTCGGTCCCCTTCTTCCTCTGCTTTTTGTACTCCTGGTGGGTGCTGTGCCCCACTCCCCTCCTCAGAGGAGATCCTGCCCACTCTCCACCCGGGGGAATGGGAGACTCTCCTTTCCCTGGGGGCTGGGGAGTGCTAGAGGCCAGGGGTGCATGGGCTGGAGGAAAGCCAGGAGCGTGGCAGAGTGTACCACCCACAAACCCAAGACACCCACTTCAACCAGGGCTTGGGTCCCCAGGGCGCCTCCCCTGCTCCTCTCAAGTGCTCCTTCTCCTACTTATTCTTCTCTTTTCCTCCCTCCTCCTCATCTCTTGGCCTATTCTCCTCTCCTGTCCCTGCCTGCCTTGGCATCTATGCTGCCAGGCCCATCTTCTGAGCCCCTCCTCTGTGTGTGCCAGGCATGGCAGCACTGAGCTAGGCTAGGGGAGCGAGTGGAAAGATACAACACATGCCCGCACACACAGCGCACAGCCGCAGTCTGCTTCATGGGCTGACAGAATCAATGCTTGTGTCTGTCTGCTGGAAGACAGGGACCAGGATCCACTCATCAGAGGGGAGTCCACAGTCCCCACAGAGGGCCGGCATGTGTGGGAGGTTAGGAAATGTCAGCACTGCCCTGAAACAAATCAGGCGTGGCCCTTGCCGAGCACCTGGCACATAGTAGGTGCTAAATAAATATTTGTTGAATGGATGAATTGTTAGGTAAGTAGAAATAGATAGATAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGAGACAGATAAATAAATGGGTTGACAGATGTGTGGATTGGATGAGTGGATGGGTGAGTTGGTGGATAGATGGATTGGATTGTATAGATGAATTGAATGGATGGTTGAATGGATGGATAGATGGATGGATGGTTGGAATAGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACGGACAGACGGACGGACGGTTGGATGGATGGATGGATGGATGGATGAATGGATAGTTGGAATAAATGGATGGATGGATGAATGGATGGATGGATGGGTGGATGGACGGACGGATGGATGGACAGATGGAATGGATGGATGGATGGTTGGAATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGGATTG
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Task1_train_16009
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Given this context: Chromosome 11, gene SLC22A12 (solute carrier family 22 member 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Dalmatian hypouricemia
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TTGTTTGGTCATTGGGACCACTGTAGAAAGGAGCACAGCAGAGGCCCAGTGGTGAGCAGGTGCCCGCACCCACACTAAGAAGAAGGCTGAGTCCACAAATCTCTCCCACCCAACAGCTTGGAGTGGAGTAACAATTTGCAGCCACTCCTCAGAGCAGGAGAAAATTACATCTCATACAGTGGCTCCACAAGGAGGCAATCGTGTCCGACAAGAGCCTTCTGGGATGGCAGCTTGACTCCCAACACCAAGAGGGTAGAGAGTGGAAGGTAAAGGTCAGTGATAAAAATTCCAAGGCACCCCTCCTGGTTCTCATGCTGATGCAGGGCCACAGAGCTGCACCCCCCTTTCCTTGGTAGACGTGCTCCCACAGGGCTGAAGAAGTGCCCATTCATTCATTCATTACTTCATTCATTCAACAAATAACTACTGAGCACCTACCATGTGCCAGGCGCTGGCTGACACCAGCTATGAGCAGATATGTGGTCTCTGCCCACGTGGAGCTCATAGGGAATCCCACACATCGTGGCCTCACAAACTGTGCTTAGGGCTTGACGAACAACCTGGGGTATTGACATCTGAGAATGGGACCCCGCTTTCTCCCTCCCAGTCACTTACAACACATTCCAGTCAGCTTTCTCCCTCTTCTCCGCCCAAACTGCCCTTCCCAGGGTCACCCACAATGATCTGGCCACCATCACTTGTGGTACCTGCTATGTGGCGGGCACAGTCCACACTCTCTCCCTCAGGCAGCCTCACCCCTGCCTGCAGCCCCAGCTCCCTCCAAATACTGCAGACCCCAAATCTCCACTTGGTCCTGCCTCCCCCACTGACCTCCAGCCTTACACCTCCAACTGCCCACGTGACGGTTCCATTATAGGTGTCTCATCCCCACACACATCTCCTTAGACCTCTCCTCCCCAAGTCTTCCCCAGCGTGGGGAGCAGCCCCTGAACTCACCAGAGTCACAGTGGCCATGACGCCTCTCTCTCCCTCACCATCCCCCCACCAAGTCCACTGGGTCACCAGGCTTCATCAGCTCTATCTCTAATATGCACCTGGAATCTCCACTTCTCCCCTCTGTTCTGCAAATCCCTAAGGAGCTCAGGGCCCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCC
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TTGTTTGGTCATTGGGACCACTGTAGAAAGGAGCACAGCAGAGGCCCAGTGGTGAGCAGGTGCCCGCACCCACACTAAGAAGAAGGCTGAGTCCACAAATCTCTCCCACCCAACAGCTTGGAGTGGAGTAACAATTTGCAGCCACTCCTCAGAGCAGGAGAAAATTACATCTCATACAGTGGCTCCACAAGGAGGCAATCGTGTCCGACAAGAGCCTTCTGGGATGGCAGCTTGACTCCCAACACCAAGAGGGTAGAGAGTGGAAGGTAAAGGTCAGTGATAAAAATTCCAAGGCACCCCTCCTGGTTCTCATGCTGATGCAGGGCCACAGAGCTGCACCCCCCTTTCCTTGGTAGACGTGCTCCCACAGGGCTGAAGAAGTGCCCATTCATTCATTCATTACTTCATTCATTCAACAAATAACTACTGAGCACCTACCATGTGCCAGGCGCTGGCTGACACCAGCTATGAGCAGATATGTGGTCTCTGCCCACGTGGAGCTCATAGGGAATCCCACACATCGTGGCCTCACAAACTGTGCTTAGGGCTTGACGAACAACCTGGGGTATTGACATCTGAGAATGGGACCCCGCTTTCTCCCTCCCAGTCACTTACAACACATTCCAGTCAGCTTTCTCCCTCTTCTCCGCCCAAACTGCCCTTCCCAGGGTCACCCACAATGATCTGGCCACCATCACTTGTGGTACCTGCTATGTGGCGGGCACAGTCCACACTCTCTCCCTCAGGCAGCCTCACCCCTGCCTGCAGCCCCAGCTCCCTCCAAATACTGCAGACCCCAAATCTCCACTTGGTCCTGCCTCCCCCACTGACCTCCAGCCTTACACCTCCAACTGCCCACGTGACGGTTCCATTATAGGTGTCTCATCCCCACACACATCTCCTTAGACCTCTCCTCCCCAAGTCTTCCCCAGCGTGGGGAGCAGCCCCTGAACTCACCAGAGTCACAGTGGCCATGACGCCTCTCTCTCCCTCACCATCCCCCCACCAAGTCCACTGGGTCACCAGGCTTCATCAGCTCTATCTCTAATATGCACCTGGAATCTCCACTTCTCCCCTCTGTTCTGCAAATCCCTAAGGAGCTCAGGGCCCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGATCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCC
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Task1_train_16010
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The following genetic variant occurs in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Dalmatian hypouricemia
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CCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCC
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CCCGGTGGGTGTAGGGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGTCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCC
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Task1_train_16011
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This mutation occurs in SLC22A12 (solute carrier family 22 member 12) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Dalmatian hypouricemia
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GGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAG
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GGCAGGTGGCCCCACCCTGGCTGCTCATAGGGGACAACACGTCTGGCTGAAGGACCTGCAGGAGCCAAGGCCTAGAGGCAGGCCCCGTGTAGAGTGGTGGGCATGGCAGGCGCTCAGCAGGCGGGGCGGGACGGTGTGGCATAAGCTCGGTTTGACACTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCCGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAG
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Task1_train_16012
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Given this context: Chromosome 11, gene SLC22A12 (solute carrier family 22 member 12) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Dalmatian hypouricemia
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CTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAGGGGAAAAGGACAGTTTGATTGGCAGGAGGTGACCCAGTGCACCATCACCCTGCCCTGCCCTCGTGGCTTCGGAGAGCAGAGGGGTCAGGCCCAGGGGAACGAGCTGGCCTTGCCAACCCTCTGCTTGACTCCGCACTGCCACTTGTCCCCCCACACC
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CTGAGGGTAGTGGGAGACAGGTCAGTGTGAGGGGCTGGGTCCTGCCACAAGGAGGGGAGGTGCTGGGCTCATGAGGCCGAGATAGCAGAGACTCAGGTGCGAGGGGTCCTGGAGGTGTGGGAATCAGCTGACAGGGTGCGGCCAGAGGGCGCTGGTGCTGTTGGGGACCCTGGTCCCAGCCTGAGCCCCGGGGTGGCTGTGAAGCTGTTTGCAGGAGGAAGATGCAGCCATGGGGTGGACAGGAAGGCCATGTGGTATGGGAGGTGCCAGGACAGGGGTGGACCCCAGTCGCCTTGGAGATGGCCAAGGTCCTGGCAGTGGCCAGGATCCAGTGGTCCTGTAGCCCTAGGGGCCCTGACTGCAACCAGGCCGGGTTCCTAGCGAGGCAGGGGAAGGGCTGTGGGGTCTGGAGGGAGGCAGGAAGGGTTCCACAGAGTCATCCCTCCCTCCATCCCAGCAGCCAGCCCCAGGATGAGAACAGCATCCCAACCACAATCCCTAGGAGGGAGAAAGGCAGCAGAAGGGGTCTCCTGCTGGGGAAGGAGGGTGCCCAAGAGGGCTTGGCTGCCACAACGCCCTTCGGGGTCCTCAGCCGCCCTAAGCCTTGGGCCTGGAGCAGTGGGTACAGGGTAGCAGTCTGAGGCTGGCGCAGGCCAGGCACTGGGGGCCACAGGCAATGACCCCTCCCACGCCCCCTCCACTTAAGGTGGCTGGCAGAGTCGGCACGATGGCTCCTCACCACAGGCAGGCTGGATTGGGGCCTGCAGGAGCTGTGGAGGGTGGCTGCCATCAACGGAAAGGGGGCAGTGCAGGACACCCTGACCCCTGAGGTAAGGCTGGGTCCTCCTCAAACCCGGACCCTCAGACCCTCTCCCTGCCCCTGCATAGGGCACCCTGGGAGACCCACCAAGGACCTCAGCTCCCTGGGAAGAAGGTCTCAGAGAGGAGGAGGTGCCTGGCGCCCCCAGTGCCAACAGCACCCACCCCCGCCTCCACAGGTCTTGCTTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCGCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAGGGGAAAAGGACAGTTTGATTGGCAGGAGGTGACCCAGTGCACCATCACCCTGCCCTGCCCTCGTGGCTTCGGAGAGCAGAGGGGTCAGGCCCAGGGGAACGAGCTGGCCTTGCCAACCCTCTGCTTGACTCCGCACTGCCACTTGTCCCCCCACACC
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Task1_train_16013
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Located on Chromosome 11, this mutation impacts SLC22A12 (solute carrier family 22 member 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Dalmatian hypouricemia
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TTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAGTGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAGGGGAAAAGGACAGTTTGATTGGCAGGAGGTGACCCAGTGCACCATCACCCTGCCCTGCCCTCGTGGCTTCGGAGAGCAGAGGGGTCAGGCCCAGGGGAACGAGCTGGCCTTGCCAACCCTCTGCTTGACTCCGCACTGCCACTTGTCCCCCCACACCCGTCCACCTGCCCAGAGCTCAGAGCTAACCACCATCCATGGTCAAGACCTCTCCTAGCTCCACACAAGCAGTAGAGTCTCAGCTCCACAGCTTTACCCAGAAGCCCTGTAAGCCTGGCCCCTGGCCCCTCCCCATGTCCCTCCAGGCCTCAGCCACCTGCCCGCCACATCCTCTGCCTGCTGTCCCCTTCCCACCCTCATCCCTGACCGACTCCACTTAACCCCCAAACCCAGCCCCCCTTCCAGGGGTCCAGGGCCAGCCTGAGATGCCCGTGAAACTCCTACCCACAGTTACAGCCACAAGCCTGCCTCCTCCCACCCTGCCAGCCTATGAGTTCCCAGAGGGTTGGGGCAGTCCCATGACCCCATGTCCCAGCTCCCCACACAGCGCTGGGCCAGAGAGGCATTGGTGCGAGGGATTGAATAAAGAAACAAATGAATGGCTGCCCCTCACTGACTCAAGTGATGAGCCCCCAGGGTCCTCCCGGGTCGGGGGAAGGAGGAAAGTGCTGGGGGCTGCTTTCTGGGGTGGGTCTTTCCCAGGCCAGCTTGCCTGCCCCAGGTGCCAGGCCAGAGTGGCTGCTGTTTCCAGCGCCTGTTGTGGGCCCGGTGCTGTGCTGGACACCTCAAAGCATCATCTCACTTCACTTTTTCCTGAATCCTGTAGGGCAAACATTGCCCCATTTTACAGATGAAAAAACTGAGGCTTGAAGAACCTGATTGCCCATGACACTCAGCTAGGTGGGGGCAGTATCAGGATTCAAACCCATCAGTAGGCCTCCAGAGCCCCACTCTGGCCACAACAGCCCCAGCCTCTCCCAACCCAGCCTCACCATCTGGGTGTCCAGTAACTCTCCTGGCAGCGGCAAGGCCAGGGGCCCACAGTGTCCACAGGCATGGCTCGCGGGGAAACGCAGTGCAGCGCACACAGAGGTCTGGGTGCAGGTAGAAGCCATTTGCTGCCCAGCCGGGTCCCAGCCAGCCAGCCCAGTCACCTGAGCCACCC
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TTTCAGCCATGCGGGAGGAGCTGAGCATGGGCCAGCCTCCTGCCAGCCTGGGCACCCTGCTCCGCATGCCCGGACTGCGCTTCCGGACCTGTATCTCCACGTTGTGCTGGTAGATGCCCTTCCCCCAACCCCACCTCCACAGGGGAACCTGGAATCGGGGCTCTCGCTGGCACACGGCCCCGGCCTCTGCTGGCTCCGCTTGGTCCCACTGGCCTGCAACACCGACACCTTCCCCTCTGTCAGTCACTCCCGACAGGAGACAACCCAGGCCGGGTGGGCTCACTGAGGGGGCCTTAATAAGGGGCAAGGCAGATAAAAGAGATGCAGTAGGTAGGATCCCTAACAAAGCTCCTGGGAGGGCTGGGAGCCAGGCATGACGAAGGGGTGATCCAGGCAACAGCATGGGCCGCAAGCACCCCTGCCTGGTGTGGGGCCAGGGAGGGCGGAGAGGGCTTATCAGAGCCCAGGACCCATGGCCATCCAGCAAAGACCAAAACCGCCAAGGCCAAGGAGGGAAGGACTGTTCAGTGGCAGCTGGAGCCACGGAAGGGACATAGTCACTCCCAGACAAAGCCCCCAAGCAGAGAGGGAGGCAGAAATCCCCTGCTTCTCCCCTCCTCCAACCTCTTGCCAGCACCTCCCATCAGCCAAACCCAAAGGGAAGCCATGCTGGCAAGGGGACCTGATAAACATAGTCTAGAGACTGGCCCCGCCCCACAGAGCTGGCAGCTGAAGGGCCAGAACACTGAGCTAAGAGCAGCACACCCCCACCCTGAGCCCCCACCGCCCATTGTTCCCACCCTGCCCACCACCCCCCCCCACCCCCCACCCCCACCCTGACTTCCCTGACCCCTGCCCCAGGTTCGCCTTTGGCTTCACCTTCTTCGGCCTGGCCCTGGACCTGCAGGCCCTGGGCAGCAACATCTTCCTGCTCCAAATGTTCATTGGTGTCGTGGACATCCCAGCCAAGATGGGCGCCCTGCTGCTGCTGAGCCACCTGGGCCGCCGCCCCACGCTGGCCGCATCCCTGTTGCTGGCAGGGCTCTGCATTCTGGCCAACACGCTGGTGCCCCACGGTGAGGGGGCAAAGCTGTACACCAGAGACTTCCCTACCTTGGGGGGGTCTCGGGCTGGGAACAGCACCCCTCCTTGGAGGTGCTGGACTAGAGCAGGTACCCTGGTAGGAAGGAGGCTGCCGGAGCCGTCTAGGGACAGACGGCAGTGTCTGCACTGAGCCAGCAAGAGCGGTGAAGGAGTGGCATGGGTGGCACCAGGGAAAAGTGTGGAGTTAAAATGAGAACTAAGTGATGGATTGCAGGAGGAGGGAAACGGGGTCAAGAAGGACTCCTCGGGGCTGGCTCTGGGTGTCTGAGCGTGGAGCAGATTGTGGGTGTGGCCATGAGGCCACTCAGGACAGGATACCCAGATGGAGATGACTCCCAAACATTTACAAAGAGGCCTGAAAGTCAGGGACAAGCCCCCTGGGCTGAAGGGAGCCCTCATCTGATCTTGGGCCCCCCACCAAGCTCACTAATCCCATCTCTACCCACAGAAATGGGGGCTCTGCGCTCAGCCTTGGCCGTGCTGGGGCTGGGCGGGGTGGGGGCTGCCTTCACCTGCATCACCATCTACAGCAGCGAGCTCTTCCCCACTGTGCTCAGGTGAGGCTGGGCCTGGGCTCCAGGAGAGGGGAGCCCTGGGCTGAGCTGCGGGGCACCCCCAGGCAGGACTGGCTTCTCCCAGACCTAGATGTTCATGTCATGCATCTCCCTCTTGTGTGGTCCCCGGGGCTGCTCAGGTGCATCCCAAGCCCAGCCTGACCCCCTGGGTCTCCCTGGGCCAAGCGGGCCTGGCCCGGCGTGCAGGATCAAGGCTGTGGGCACACAGACCAGGCGCTTATAGGTGCATCTGCATTGGCAGGATGACGGCAGTGGGCTTGGGCCAGATGGCAGCCCGTGGAGGAGCCATCCTGGGGCCTCTGGTCCGGCTGCTGGGTGTCCATGGCCCCTGGCTGCCCTTGCTGGTGTATGGGACGGTGCCAGTGCTGAATGGCCTGGCCGCACTGCTTCTGCCCGAGACCCAGAGCTTGCCGCTGCCCGACACCATCCAAGATGTGCAGAACCAGTGAGTGGACCCAGCCTCGGGACCACCCCTCCCTCCCACCAGAGAACCCTAGCACAGGGCAGCCTGCTCACCCATCCCCATCACTTGACAGAGGCGGAAGCAGAGGCCCAGACAGATAGGATTGGCCCAGAGTCACACAGTACATCTCTGGGAGAGTGGCAACCCAGGGCTCAGTCTCCGGCTGGCAGTGCTTTGACCTAGGGCTTTGTCCTCTGCCTTTCACTCCACCATTCAAGGCACAAATGGACAAGCTCCCCCAGGTCCACCCTGAGAGAGGCCAAAGGGAGAAGAGTGGATAGTCCTTTGTGAGAGGGAGATCCAGCCATTGTTGGGGGCCCTCGCAGGCCCCAGATTCTACCTCTAAAGCCCTGATGGCTGGCAGGGCAGTCACTTCACACACACCCCCAACCCATCACATGCTCGGGAGCTCAGTTCTGGGCCCCCGAGAGCAGGGTGGTGGCATTCCCTGGAGTCCTTGGGATGGACACAGGTCAAGGGTCAGGGGCCACTCCGCACCCCAAGACACACCCCCGTGTGCTTCCTGAACAGGGCAGTAAAGAAGGCAACACATGGCACGCTGGGGAACTCTGTCCTAAAATCCACACAGTTTTAGCCTCCTGGGGAACCTGCGATGGGACGGTCAGAGGAAGAGACTTCTTCTGTTCTCTGGAGAAGGCAGGAGGAAAGCAAAGACCTCCATTTCCAGAGGCCCAGAGGCTGCCCTCTGAGGTCCCCACTCTCCCCCAGGGCTGCCCCTCCAGGTGAGCCCTGCCCCTCTCACAGTCCAAGGGGCCCCCTTCAATACTGAAGGGGAAAAGGACAGTTTGATTGGCAGGAGGTGACCCAGTGCACCATCACCCTGCCCTGCCCTCGTGGCTTCGGAGAGCAGAGGGGTCAGGCCCAGGGGAACGAGCTGGCCTTGCCAACCCTCTGCTTGACTCCGCACTGCCACTTGTCCCCCCACACCCGTCCACCTGCCCAGAGCTCAGAGCTAACCACCATCCATGGTCAAGACCTCTCCTAGCTCCACACAAGCAGTAGAGTCTCAGCTCCACAGCTTTACCCAGAAGCCCTGTAAGCCTGGCCCCTGGCCCCTCCCCATGTCCCTCCAGGCCTCAGCCACCTGCCCGCCACATCCTCTGCCTGCTGTCCCCTTCCCACCCTCATCCCTGACCGACTCCACTTAACCCCCAAACCCAGCCCCCCTTCCAGGGGTCCAGGGCCAGCCTGAGATGCCCGTGAAACTCCTACCCACAGTTACAGCCACAAGCCTGCCTCCTCCCACCCTGCCAGCCTATGAGTTCCCAGAGGGTTGGGGCAGTCCCATGACCCCATGTCCCAGCTCCCCACACAGCGCTGGGCCAGAGAGGCATTGGTGCGAGGGATTGAATAAAGAAACAAATGAATGGCTGCCCCTCACTGACTCAAGTGATGAGCCCCCAGGGTCCTCCCGGGTCGGGGGAAGGAGGAAAGTGCTGGGGGCTGCTTTCTGGGGTGGGTCTTTCCCAGGCCAGCTTGCCTGCCCCAGGTGCCAGGCCAGAGTGGCTGCTGTTTCCAGCGCCTGTTGTGGGCCCGGTGCTGTGCTGGACACCTCAAAGCATCATCTCACTTCACTTTTTCCTGAATCCTGTAGGGCAAACATTGCCCCATTTTACAGATGAAAAAACTGAGGCTTGAAGAACCTGATTGCCCATGACACTCAGCTAGGTGGGGGCAGTATCAGGATTCAAACCCATCAGTAGGCCTCCAGAGCCCCACTCTGGCCACAACAGCCCCAGCCTCTCCCAACCCAGCCTCACCATCTGGGTGTCCAGTAACTCTCCTGGCAGCGGCAAGGCCAGGGGCCCACAGTGTCCACAGGCATGGCTCGCGGGGAAACGCAGTGCAGCGCACACAGAGGTCTGGGTGCAGGTAGAAGCCATTTGCTGCCCAGCCGGGTCCCAGCCAGCCAGCCCAGTCACCTGAGCCACCC
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Task1_train_16014
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An alteration has been detected in RASGRP2 (RAS guanyl releasing protein 2) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Platelet-type bleeding disorder 18
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CAGTCACCCAGGCTGAAGTGCAGTGGTGTGATGACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAAGGGTTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCCATGCCCAAAAAAAATTTTTTTAGGCTAGGAGCAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGGGGCCAAGGCAGGTAGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCTAAAAATACAAAAATTAGCCAGGCACGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAAGCAGGAGAATCACTTGAACCCAGGAAGTGGAGGTTGCAGCGAGCCGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAATAATAATAATAATTTTTGTAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGGCTCAAACTCCTGGCCTGAATTGATCCTGCCAACTCAGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGGCACCGCACCTGGCCTCTCACTTCTTACTTTAAACATTTTGTTCACTATAAATTTATTTTACCACCTAGATTTTATTTTACCGTGGATTTTTGTAATGTGGAAATAAAAAACAACAGATTTTTGAAATACAGGTAACATTAAAAAATAAATCGACCTGAGATGGACTTTAAATTTTGAATGGAGTTTTTTCTGCTCAGCAAAAATAGGGCATGAATCTGGCTTCAGGGGGCATGTTTAACCTACTTCAGAGAACCAGCTGTTTTTCCAAATTGTCAGCATATGAACTGTTGATAAACAACTGGGTACTGCTAATTACAAACCTTTCTTATCTATTCATTAGAACAGACTATCCAGGAGCTCAAGTTGCCCACACTTCTTGACAGCTGTGAGCTCCACAAATAAAACAGCACTTTTGTAGCCACAGTCCCCAGGTCACAGTCTTTGCAAGACTCAGGTGGAGCCCCCCATCTGTCTGAATTTGTGAGATACCACTGCGCCTCCACAGCTGGCAGCCTCTCCTCCCCACAAAAGCAAGTGCCCTTTCCCACACTGGCAGCTTCCCAGGCCAAGATCATCTGGCTCAGTGACCTCATCTTGCACACAAGAAACTGAAGCCCAGGCAGAAGTGGGCTGAGTTGCCTTCCCTCTCCCCCAGGTCCCCAGCCCTCCTCACTGGTTCTGGTCGAGGTCCCCAAAGGCGCTGAGGTAAGGGAAGTTCCCACGGATGATCTGGAATTCTTCCTGTGAGATGTGGCCATCCCCATCGACGTCAAAGTTCCGGAACACAGACTGGGGCACGCAGAGGGACACGCAGAGCCAGAAGAGGGGAGAGTAAAGGGGACATCAGGTCCTGTCCCTTCCCACGTTCCCAGTCCATTTGATGAGGTGTGTCTCAGAGAGGTCTCTGACACCACCCCCGTTCCATACCTCCACCCCCACCCTACCCAGGGGCACTTCAGCCCCGTGCAGCTGGCCTGCCAGGCCCTGTGACTCCTAGGGGCTGAGTGCTGGGTCTTGAACAGGACACTCGTGCTGGCTTCCAGGGCAGTGCTCCGGCAAACTGGCCTCTCCCCACACACTGCTCAGGCTCCGCAGGAGCTCACCTCCACCATCTTCTCGATGTGCTCCACCACGAGGGCCTGATCCAGCTTGGGTTTGGCAGCCGAGGTCCACTCCTCCAGTACCGGGGGCCGGGGTGGTGGGGTGCAACTCGTGGGGCTGGTTGGCTATGGAAATGGTCGGGCCTGAGCTAGGGCCAGAGGCAGGGGAAGCCCAGAGCCCCGGGGAACAGAGAGGGGAATCCCTGGGAGAGGGAAGTCTGCCCAACACTACTGCCCTACCCCCAGGATGCCTCTGTCCTACAAGATGGATGGGTGAGGTGGCTGCTAAGAGCTCTTCCCATCCTCACATCCTGGGATTCTCAGGAGGGAAGGGCAGAGTGGAGAGGAGGGAGTACCCCCTCACCGAGGACTTGGAGCGCGGCTCCCGCTGCAGGGACAGCTGGTACAGCTCATCCTCCGTCTGATACTGATCCAGAGACACCTGGGACACACAGATCTGATCACCCCCACTGGCCCCTGCCCACAGCCACAGAGCCCAGGGCCAAAGGTCGACCTAGAGGCCACAGCTCAGCTCAGAGCTCGGGTCAGAAGCTAGACTCAGGACAAAGCCTGGCTTAGAACACAGCACAGCAACCCCCATGTCATCCCAGCGCACAGATCAAACCACAGCATGGCCCCAAACCTTGAACACAACATATTGCCAAGATGTCAGGGAAGAAGCCAGGTCGGAACCCAGCCAGAAGCTCTGATTTCAACCCTGATCCCCTCCAGAGCCCAGAAGCAGCTAAGAATCCACTCCAAACCTTAACACTTAAGCCCCAGCCCAATGTCTAGAACCTTGTCTGGATCTAAACCAGAACCCAACTCCCACCCTAGACCCCAAGACCAAGTGTAAAGCCAAGCCCAGAACTTCACTCCGAGCCCAGGGCCATGCTTAGAAACCACCCCTGCCCACAGAATGCAGAGCTTGGCCCAGCCCTAGAACACAGCCCATTGCCAGAACTCAACCCGGGACCCAGGCCCAGTTCAAACTGCCCACAGTCCACATACCAGCCTGGAGATCAGACCTCAGTCCACAGCCCCAACCAGAGCCTGGACCCCTTCTCAGCATCCACTCCAAACCCCAGAGCCCACGCTAGATCTCAGTTTCTTGGCCAGAACCCAGAGCCCCAGGCCACGCCCACAGCCAGGACCTGGGGAAACTGTCAACCCCTGGTGCCCAGCTCCCCACCTCCCTGCCCCCTGCTCCTCACCGTGAGCAGGCTCAGCAGGTCGGGGTTGGCCTGTACTGGTGGCCGCAGGCTGGTCACCATGGCCAGCTCCTCCAGGATGCTAAAGAGCTGCTTCATCTTGGCCCCGTTGAGCCGGGTCCGGGCTGGGTCCAGCCAGTCAGGCAGTGCCAGCTGCAGGGCCACCAGGTCCTTGAGGTGCACACCCAGGATCGGGAAGCGGAAGCCCACACAGGCTGCCAGCCGACGCCGGTAGTTGCCATAGTTGCCTGTCGCCGTCACTAGTTCCGTGAGACCCTCCCAGAGCTGGGGACAAAGGACAGAGGAGTCATACCCCCACAACTATCCTCCCTACCTCAGCCCTGGAAATGTAGGAGGGGGTGAGGAGGAGTCAGGGTCAGGGACAGGTGAAAGAGTAAAAACCTCCCTTACTGTCCCCCACGACTGGCTCTCTCAGCCCCTGGGGATTGAATTCATTGCCATGAATTCAAGGCAATACTCACTGCCAAAAGCACCACACCTCTAAACCAGGCCTGGATGCAGGGAATCATCAACATTTAACAGGAGAAACAGAGGCTCAGGGAGGCAAGGCAGCACAGGACAATGACCTGGAAGAACATACTCAGCCACCCCGTCCAAACAGCAAAAACTGGAAAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAAGGAAAAACCCCAACATTCAACAATAGAATCAATACATAAATTGGGGTAGGCTGGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTCGGCAACATGGTGAAAGCCTGTCTCTACAAAAAATTAGCCAGACGTGGTGGTACGAGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACGTAAACCCAGGAGACGGAA
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CAGTCACCCAGGCTGAAGTGCAGTGGTGTGATGACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAAGGGTTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCCATGCCCAAAAAAAATTTTTTTAGGCTAGGAGCAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGGGGCCAAGGCAGGTAGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTGCTAAAAATACAAAAATTAGCCAGGCACGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAAGCAGGAGAATCACTTGAACCCAGGAAGTGGAGGTTGCAGCGAGCCGAGATTGTACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAATAATAATAATAATTTTTGTAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGGCTCAAACTCCTGGCCTGAATTGATCCTGCCAACTCAGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGGCACCGCACCTGGCCTCTCACTTCTTACTTTAAACATTTTGTTCACTATAAATTTATTTTACCACCTAGATTTTATTTTACCGTGGATTTTTGTAATGTGGAAATAAAAAACAACAGATTTTTGAAATACAGGTAACATTAAAAAATAAATCGACCTGAGATGGACTTTAAATTTTGAATGGAGTTTTTTCTGCTCAGCAAAAATAGGGCATGAATCTGGCTTCAGGGGGCATGTTTAACCTACTTCAGAGAACCAGCTGTTTTTCCAAATTGTCAGCATATGAACTGTTGATAAACAACTGGGTACTGCTAATTACAAACCTTTCTTATCTATTCATTAGAACAGACTATCCAGGAGCTCAAGTTGCCCACACTTCTTGACAGCTGTGAGCTCCACAAATAAAACAGCACTTTTGTAGCCACAGTCCCCAGGTCACAGTCTTTGCAAGACTCAGGTGGAGCCCCCCATCTGTCTGAATTTGTGAGATACCACTGCGCCTCCACAGCTGGCAGCCTCTCCTCCCCACAAAAGCAAGTGCCCTTTCCCACACTGGCAGCTTCCCAGGCCAAGATCATCTGGCTCAGTGACCTCATCTTGCACACAAGAAACTGAAGCCCAGGCAGAAGTGGGCTGAGTTGCCTTCCCTCTCCCCCAGGTCCCCAGCCCTCCTCACTGGTTCTGGTCGAGGTCCCCAAAGGCGCTGAGGTAAGGGAAGTTCCCACGGATGATCTGGAATTCTTCCTGTGAGATGTGGCCATCCCCATCGACGTCAAAGTTCCGGAACACAGACTGGGGCACGCAGAGGGACACGCAGAGCCAGAAGAGGGGAGAGTAAAGGGGACATCAGGTCCTGTCCCTTCCCACGTTCCCAGTCCATTTGATGAGGTGTGTCTCAGAGAGGTCTCTGACACCACCCCCGTTCCATACCTCCACCCCCACCCTACCCAGGGGCACTTCAGCCCCGTGCAGCTGGCCTGCCAGGCCCTGTGACTCCTAGGGGCTGAGTGCTGGGTCTTGAACAGGACACTCGTGCTGGCTTCCAGGGCAGTGCTCCGGCAAACTGGCCTCTCCCCACACACTGCTCAGGCTCCGCAGGAGCTCACCTCCACCATCTTCTCGATGTGCTCCACCACGAGGGCCTGATCCAGCTTGGGTTTGGCAGCCGAGGTCCACTCCTCCAGTACCGGGGGCCGGGGTGGTGGGGTGCAACTCGTGGGGCTGGTTGGCTATGGAAATGGTCGGGCCTGAGCTAGGGCCAGAGGCAGGGGAAGCCCAGAGCCCCGGGGAACAGAGAGGGGAATCCCTGGGAGAGGGAAGTCTGCCCAACACTACTGCCCTACCCCCAGGATGCCTCTGTCCTACAAGATGGATGGGTGAGGTGGCTGCTAAGAGCTCTTCCCATCCTCACATCCTGGGATTCTCAGGAGGGAAGGGCAGAGTGGAGAGGAGGGAGTACCCCCTCACCGAGGACTTGGAGCGCGGCTCCCGCTGCAGGAACAGCTGGTACAGCTCATCCTCCGTCTGATACTGATCCAGAGACACCTGGGACACACAGATCTGATCACCCCCACTGGCCCCTGCCCACAGCCACAGAGCCCAGGGCCAAAGGTCGACCTAGAGGCCACAGCTCAGCTCAGAGCTCGGGTCAGAAGCTAGACTCAGGACAAAGCCTGGCTTAGAACACAGCACAGCAACCCCCATGTCATCCCAGCGCACAGATCAAACCACAGCATGGCCCCAAACCTTGAACACAACATATTGCCAAGATGTCAGGGAAGAAGCCAGGTCGGAACCCAGCCAGAAGCTCTGATTTCAACCCTGATCCCCTCCAGAGCCCAGAAGCAGCTAAGAATCCACTCCAAACCTTAACACTTAAGCCCCAGCCCAATGTCTAGAACCTTGTCTGGATCTAAACCAGAACCCAACTCCCACCCTAGACCCCAAGACCAAGTGTAAAGCCAAGCCCAGAACTTCACTCCGAGCCCAGGGCCATGCTTAGAAACCACCCCTGCCCACAGAATGCAGAGCTTGGCCCAGCCCTAGAACACAGCCCATTGCCAGAACTCAACCCGGGACCCAGGCCCAGTTCAAACTGCCCACAGTCCACATACCAGCCTGGAGATCAGACCTCAGTCCACAGCCCCAACCAGAGCCTGGACCCCTTCTCAGCATCCACTCCAAACCCCAGAGCCCACGCTAGATCTCAGTTTCTTGGCCAGAACCCAGAGCCCCAGGCCACGCCCACAGCCAGGACCTGGGGAAACTGTCAACCCCTGGTGCCCAGCTCCCCACCTCCCTGCCCCCTGCTCCTCACCGTGAGCAGGCTCAGCAGGTCGGGGTTGGCCTGTACTGGTGGCCGCAGGCTGGTCACCATGGCCAGCTCCTCCAGGATGCTAAAGAGCTGCTTCATCTTGGCCCCGTTGAGCCGGGTCCGGGCTGGGTCCAGCCAGTCAGGCAGTGCCAGCTGCAGGGCCACCAGGTCCTTGAGGTGCACACCCAGGATCGGGAAGCGGAAGCCCACACAGGCTGCCAGCCGACGCCGGTAGTTGCCATAGTTGCCTGTCGCCGTCACTAGTTCCGTGAGACCCTCCCAGAGCTGGGGACAAAGGACAGAGGAGTCATACCCCCACAACTATCCTCCCTACCTCAGCCCTGGAAATGTAGGAGGGGGTGAGGAGGAGTCAGGGTCAGGGACAGGTGAAAGAGTAAAAACCTCCCTTACTGTCCCCCACGACTGGCTCTCTCAGCCCCTGGGGATTGAATTCATTGCCATGAATTCAAGGCAATACTCACTGCCAAAAGCACCACACCTCTAAACCAGGCCTGGATGCAGGGAATCATCAACATTTAACAGGAGAAACAGAGGCTCAGGGAGGCAAGGCAGCACAGGACAATGACCTGGAAGAACATACTCAGCCACCCCGTCCAAACAGCAAAAACTGGAAAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAAGGAAAAACCCCAACATTCAACAATAGAATCAATACATAAATTGGGGTAGGCTGGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTCGGCAACATGGTGAAAGCCTGTCTCTACAAAAAATTAGCCAGACGTGGTGGTACGAGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACGTAAACCCAGGAGACGGAA
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Task1_train_16015
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This gene mutation involves RASGRP2 (RAS guanyl releasing protein 2) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Platelet-type bleeding disorder 18
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AAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAAGGAAAAACCCCAACATTCAACAATAGAATCAATACATAAATTGGGGTAGGCTGGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTCGGCAACATGGTGAAAGCCTGTCTCTACAAAAAATTAGCCAGACGTGGTGGTACGAGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACGTAAACCCAGGAGACGGAAGTTGCAGTGATGAGATCTCGCCACCGCACTCCAGCCTGGATGACAGAGACAGACTCCATCTCAAAAAAATAAATAAATAAATGAATTGGGGTAGACGTACAATAAAATATTATATGGCAATGAAAATGAAAAAACAATTGCTCCACATGACAGAATGAAAAGACTCTCAGAACCATGTGGAATGAAAAAAGCAAGACATAAAATAACACAAACAACATTCCATTCATAGAAAGTTCAAAACAGACAACAAAAAGCCCCACATTGTTTTGGACCGCATACCTACATGGTGAAGCTATAAAGAAAAGCAAGATCATCATTGCAAAAGTCGTGGGGAGGGAGTTATGCTCTAAAGTGCTGGGCGCTTGGGGGCCTGGCAAGGTTCTATTTCCCAACCCGGGCAGTAGTTACACAGTGTTTTCTTTACAATTTTTCTTTAAACTATTCATATGTTTTTATATACTTTTCTTTTTTTTTAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGAAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTAATTCTCCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATTCCAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTAGTAGAGATGGGTTTCCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATGTCACGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTACGCCCAGTCTCATATGTTTTTATATACTTTTCTATATGTATGTTACTCAATACTTCAAAATACTTCAAAAATAATAAAAAATGAAGGAGAAAGAAAAGAAGAAACTACAAGTGGCAAGGCACAATGGCTCAAGCCATAATCTCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTAAAAAAAAAAAAAAAAATTAATAACAATACAAAAATTAGGCATGGTGGCGTACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGATTGAGCTCAGGAGTTCAAGGCTGCAGTGAGCTTGTGACTGCACCACTGAACTCCAGTCTGGACAACAGAGAGAGAGACCCTGTCTTAAAAAAAAAAAAAAAAGTACTAGCTTTGGGGTCCCTGACGACCTGTGAGCCCCCACTCTGCTGTTGCCATTGTGCAAACTGAGAAAAGCACTTAACCCCTCTGAGCCTCCATTTCCATATCTATCAAATGAGGACAGCTGTGCCCAGCCCCCAGTGCTGCTGGGAGGACCCAGTGAAGACAGACCTGGGAAGCACCGGCCCCTCCCCAGTCCCAGGCACCTTGATGGTCTCAGGGCTAACGTGGCTGTGGGTCTCCTTGAGGCGGGAGATGGAGCTGTGGCTCAGGCCCCCGACCACTGCCATCAGCGTGTTGAAGTTCTGCAGCTGTAGCAGCTTCTGGAAGGCAAATGGGGACGGAGAGGCAGGGAGTCACTGAGTGGGCCCAGAATTTGGCCCAGCTTATCTAGAGAGAAGGCAGTGGGTTAGGGGAAGGGAAGGGTTGGCCTGACTGGCATGTGGGGTGGTTGGGAGACACCGGGAGGGAGGGGCAGGCACCTCCGCCACGTGGACAAAGTGTGTGATGACCAGGGCCCGCTGCGGGGCTGTGGGTTTGCTGAGGATCATGAGCTGCACCCACTGTGAGACGCTGTTGAAGAGGGAGATGAACCGCTCCAGGACGGGGTTGTCCACAGTGCAGCCATGAGTCACGAAACTGTGATAGTCCTGAAACTGGGGGCATGAGGAGTGGCCTCAGCACCTTGCTGGCCTCTCCCCTCACTGATAGCCACTCCTCACCCTCCAGCTGACCTTCAGTGGTTACACTGAAACCCCTGATGCACCCTGTGACCCAGCCTACGCCAGGGACCCTGCCCCTCCTAGAACTCTCTTCCAGCCCACATTGGACCCCTGACCCCCCAGCCCTCGGGCCGCACCAGGATCTTGCAGAAGGAGCGATACTCCAAGTAGGTGAGATGCTCCGCCAGCTCCATGGGCTCCAGGTGGTCAAACAACAGGGACATCTTGCGCTTTTTCTGTCCCACAGGGTTCCGCTGAGTCACCTGCCGCTTCCACTTGTAGGTAGGGCTGGGGGGGCAGGGGTAGTGAGCCCTTTGCTGGACATGCGCATGACTCGTGGCCCCCCACTCACACAGACACACCATTCACGCTTACTGAGAACCTACATAATGCGAGGCACTGTCCTAGGCACGAATGTTCCCAGTCCCAGCAACTCCTCCTCATCTCCCCCGACCCCGTCATGCACTCAACACACATTTATGAACAACGTACTCTGTGCCAGGCACTGTGCTAGGCGCTGGGAATACAGAGATGAGTAAGACACGGTTCCTGCCCTCGAGGAGCTCACAGTCTACTGAGGGAGACAGACACAGAAACACATGATCACAAAACAGCGTGACACATGTACAGAGGTCTTTGTACAGGAGTCTGTACAAAGTGCCATGGAAAACAGAGGTGGGAACGACAAATTCTACCCCGGAAGAGCCCCGAACCCTCAGAGCCCACGGAGACTTCATGCCTGAACTGAGTCTTGGTAACACGGAGGAGGCAGCAAGGGGGATGATATGAGCAGAGCACCATGATGAGAAAGGACTCGAGAGCTCAGCCGACGGGGAGCCGACCCAGCGCAGCTACAGGAGGAGGTGTGTGGGATGGGTGGTGGCAGTGGAAGATGAGGCAGGAACGCCAAGCTGCCCAGAGGAGGCATGTTGAAGGCAATAGGGAGCCATGGAAGGTTTTTAAGCGAGAGAGCAACATGACCCTCACTCATTCAGTTCAACAGACATTTATTAAGCACAGATGGTATAGGATACTGAGTGCCCCCCCAGCCCTCTGTGCTCCCCCCACGCACACGCTGTCTATGTCGATTAGGCTGCTGTGCCGTCGGTTCCCTTCTTGGTCTAGCAGAGCCTTCAGCTCCTTGATCTGCTCAGCCAACTCCGGGTTCAAGTCAAACTCCGCTGGGAAGGCGGAGATCCAGTACCTGGAGGAGCGGGGAGTCACCCAAGATAGCCCTTCCCCCACCATCACCCAGCAGGCTGCAAGGAGCTATTTGAGATTATAGTCACCTAAGCAAAAAGACCCTCAAACTATGGTTCCAGCTCTTTCCTTCGCCACTCCAAGTGTACATTAGACCCTTGAGACAACCACCCGCACTGCGCAGAAAAGAAAATTAAGGCCCAGACCCAGGAAGGGGTGAGCCTGTGGCAGCACTGCCCACCCGGACAAGCCAGGGTTCAAACCCACTCCCAGAAACAGCGCCCTGCCCCCTCCTCCAGGCCAGCCTGAAGCCAGAGAGAAGGGAGAAAGGGGAGGGGCTAGAGCCCCAGGGGAAAGACTCACCTGACCAGGTGGCACGTTTTCACCTGCAGGGAATTGGAGT
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AAAACCAGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCATGGCAGATGGATCATGAGGTCAAGAGATGGAGACCATCTTGGCCAACATGGTGGAAACCTCATCTCTACTAAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGGTGCAGTGATGCAGTGAGCCAAATTAGCGTCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGAAAAGAAAAGGAAAAACCCCAACATTCAACAATAGAATCAATACATAAATTGGGGTAGGCTGGGGGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAAGCGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTCGGCAACATGGTGAAAGCCTGTCTCTACAAAAAATTAGCCAGACGTGGTGGTACGAGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACGTAAACCCAGGAGACGGAAGTTGCAGTGATGAGATCTCGCCACCGCACTCCAGCCTGGATGACAGAGACAGACTCCATCTCAAAAAAATAAATAAATAAATGAATTGGGGTAGACGTACAATAAAATATTATATGGCAATGAAAATGAAAAAACAATTGCTCCACATGACAGAATGAAAAGACTCTCAGAACCATGTGGAATGAAAAAAGCAAGACATAAAATAACACAAACAACATTCCATTCATAGAAAGTTCAAAACAGACAACAAAAAGCCCCACATTGTTTTGGACCGCATACCTACATGGTGAAGCTATAAAGAAAAGCAAGATCATCATTGCAAAAGTCGTGGGGAGGGAGTTATGCTCTAAAGTGCTGGGCGCTTGGGGGCCTGGCAAGGTTCTATTTCCCAACCCGGGCAGTAGTTACACAGTGTTTTCTTTACAATTTTTCTTTAAACTATTCATATGTTTTTATATACTTTTCTTTTTTTTTAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGAAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTAATTCTCCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATTCCAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTAGTAGAGATGGGTTTCCACCTTGTTGGCCAGGCTGGTCTCAAACTCCTGATGTCACGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTACGCCCAGTCTCATATGTTTTTATATACTTTTCTATATGTATGTTACTCAATACTTCAAAATACTTCAAAAATAATAAAAAATGAAGGAGAAAGAAAAGAAGAAACTACAAGTGGCAAGGCACAATGGCTCAAGCCATAATCTCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTAAAAAAAAAAAAAAAAATTAATAACAATACAAAAATTAGGCATGGTGGCGTACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGATTGAGCTCAGGAGTTCAAGGCTGCAGTGAGCTTGTGACTGCACCACTGAACTCCAGTCTGGACAACAGAGAGAGAGACCCTGTCTTAAAAAAAAAAAAAAAAGTACTAGCTTTGGGGTCCCTGACGACCTGTGAGCCCCCACTCTGCTGTTGCCATTGTGCAAACTGAGAAAAGCACTTAACCCCTCTGAGCCTCCATTTCCATATCTATCAAATGAGGACAGCTGTGCCCAGCCCCCAGTGCTGCTGGGAGGACCCAGTGAAGACAGACCTGGGAAGCACCGGCCCCTCCCCAGTCCCAGGCACCTTGATGGTCTCAGGGCTAACGTGGCTGTGGGTCTCCTTGAGGCGGGAGATGGAGCTGTGGCTCAGGCCCCAGACCACTGCCATCAGCGTGTTGAAGTTCTGCAGCTGTAGCAGCTTCTGGAAGGCAAATGGGGACGGAGAGGCAGGGAGTCACTGAGTGGGCCCAGAATTTGGCCCAGCTTATCTAGAGAGAAGGCAGTGGGTTAGGGGAAGGGAAGGGTTGGCCTGACTGGCATGTGGGGTGGTTGGGAGACACCGGGAGGGAGGGGCAGGCACCTCCGCCACGTGGACAAAGTGTGTGATGACCAGGGCCCGCTGCGGGGCTGTGGGTTTGCTGAGGATCATGAGCTGCACCCACTGTGAGACGCTGTTGAAGAGGGAGATGAACCGCTCCAGGACGGGGTTGTCCACAGTGCAGCCATGAGTCACGAAACTGTGATAGTCCTGAAACTGGGGGCATGAGGAGTGGCCTCAGCACCTTGCTGGCCTCTCCCCTCACTGATAGCCACTCCTCACCCTCCAGCTGACCTTCAGTGGTTACACTGAAACCCCTGATGCACCCTGTGACCCAGCCTACGCCAGGGACCCTGCCCCTCCTAGAACTCTCTTCCAGCCCACATTGGACCCCTGACCCCCCAGCCCTCGGGCCGCACCAGGATCTTGCAGAAGGAGCGATACTCCAAGTAGGTGAGATGCTCCGCCAGCTCCATGGGCTCCAGGTGGTCAAACAACAGGGACATCTTGCGCTTTTTCTGTCCCACAGGGTTCCGCTGAGTCACCTGCCGCTTCCACTTGTAGGTAGGGCTGGGGGGGCAGGGGTAGTGAGCCCTTTGCTGGACATGCGCATGACTCGTGGCCCCCCACTCACACAGACACACCATTCACGCTTACTGAGAACCTACATAATGCGAGGCACTGTCCTAGGCACGAATGTTCCCAGTCCCAGCAACTCCTCCTCATCTCCCCCGACCCCGTCATGCACTCAACACACATTTATGAACAACGTACTCTGTGCCAGGCACTGTGCTAGGCGCTGGGAATACAGAGATGAGTAAGACACGGTTCCTGCCCTCGAGGAGCTCACAGTCTACTGAGGGAGACAGACACAGAAACACATGATCACAAAACAGCGTGACACATGTACAGAGGTCTTTGTACAGGAGTCTGTACAAAGTGCCATGGAAAACAGAGGTGGGAACGACAAATTCTACCCCGGAAGAGCCCCGAACCCTCAGAGCCCACGGAGACTTCATGCCTGAACTGAGTCTTGGTAACACGGAGGAGGCAGCAAGGGGGATGATATGAGCAGAGCACCATGATGAGAAAGGACTCGAGAGCTCAGCCGACGGGGAGCCGACCCAGCGCAGCTACAGGAGGAGGTGTGTGGGATGGGTGGTGGCAGTGGAAGATGAGGCAGGAACGCCAAGCTGCCCAGAGGAGGCATGTTGAAGGCAATAGGGAGCCATGGAAGGTTTTTAAGCGAGAGAGCAACATGACCCTCACTCATTCAGTTCAACAGACATTTATTAAGCACAGATGGTATAGGATACTGAGTGCCCCCCCAGCCCTCTGTGCTCCCCCCACGCACACGCTGTCTATGTCGATTAGGCTGCTGTGCCGTCGGTTCCCTTCTTGGTCTAGCAGAGCCTTCAGCTCCTTGATCTGCTCAGCCAACTCCGGGTTCAAGTCAAACTCCGCTGGGAAGGCGGAGATCCAGTACCTGGAGGAGCGGGGAGTCACCCAAGATAGCCCTTCCCCCACCATCACCCAGCAGGCTGCAAGGAGCTATTTGAGATTATAGTCACCTAAGCAAAAAGACCCTCAAACTATGGTTCCAGCTCTTTCCTTCGCCACTCCAAGTGTACATTAGACCCTTGAGACAACCACCCGCACTGCGCAGAAAAGAAAATTAAGGCCCAGACCCAGGAAGGGGTGAGCCTGTGGCAGCACTGCCCACCCGGACAAGCCAGGGTTCAAACCCACTCCCAGAAACAGCGCCCTGCCCCCTCCTCCAGGCCAGCCTGAAGCCAGAGAGAAGGGAGAAAGGGGAGGGGCTAGAGCCCCAGGGGAAAGACTCACCTGACCAGGTGGCACGTTTTCACCTGCAGGGAATTGGAGT
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Task1_train_16016
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The gene PYGM (glycogen phosphorylase, muscle associated), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Glycogen storage disease, type V
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GACCTGCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGCTCCCCACAGGGTCGAATGGAAAGGGGCAGCCGCATGTGGCGGTGGGTTCTCCGCAGCTCGGAGACTGGAGACCTGGATGCCTGGCCAACAGGGAGGAACTTGGGAGGGGCAGCCGCAGGCGGTTGGGGTCCCCACTAGCCGGGCCTAGGAGAGCGGGTAACGGTTTCCGACCATTTGGCTTCAGACACACTCACTGTGAAACCACCGACCCCAAACCTCCCTTCCGAGGCGTGCCCCTCCCAGCCTTGGGGCGGGGGATCCAGGACCGCCCCCGCACCTCAGTCTTGGTAATGTAAGACTTAGAAACAGGACCTTTCTGTTCCTCAGTTTCCCCATAATGAGGGCCTAGACTAGGCGGTCTGCGAGTGTTCCCTGCCGTAACACTCCCCCGACTTTGGATCCAGTGTAGCCACCTGCTAAGAGACCCTTAAACGCCGCAGTAGGGCGGGGCTAAGGGCGGAGCCAAGAAGGCGCCGAGCATCCTCTGCTTCCTCCCCCTCCTGGGTCCTGCCCTCGACAGCGCGGATCCTCCGTGGTCCGGGAAGCCTCAGCCCAAGTCCCGGCTCCCAGCCCCGGTGGGCCCCACCCAGGCAGACGCCCCGCCCCCGGCCAGCGAGGCTGGCCGCTGACCTAGTATGGACACGGCACTGGGAAGAGAGGCGTGGAGGGTGACGCCAGGAAAGGGGCTGGAGAGGCCTAGGCCCCGCCCCCACGGGTCGCCCCCTCCACCTCCCATCACCGTCCCGCCGTGGGACGCACCTGCCGAGGGTGGAGGATAAGGGGGTGACTGCGCGGCTGCTGTTGAGCCCGCCAAGAGCTAAAAATATTTCCCAACAAAGAGGAGTAAGGAGGCTCCCAAGGAGAATGAATTTATTAGGGAGTGGGTGCAGTTGGTCAGACCCCATAAATAGGAGGGGACCGGGAGCCCGAGGACGGAAGGGGGCCCGTGTCCTTAGTCACGCTGGACACTGGGACATTGAGAGTGGGGAAAATGAGGGTTCCAGGAGGGGCTTAGAGATCTAACTCCAGTACCCCACCCTCTGCATGAGGTGCTGGGGCTGGCCCAAGAGAGTGTGACAGACTCAAGGGCTGGTTTGGGGTCTGGTCTGGAGGCTCAGATGGCCTCATCCGGGGCTGGCAGGCGCTGGCGGGAAGGCTCCACACCCCAGATCTCCCGGGCATACTGGGCAATGGTGCGGTCACTGGAGAACTTGCCAGAGGTGGCTATGTTCCGGATCACCATCCGCGTCCACTCTCTTGGGTTCTGCAGGTCAAAGGGAAGCTCTGGTTCACTCTGCTGGCAGGATCTCCACCTTCTGCCTCATCCCAACCAGGGCCACCAAAGCCCTGCCAACCCCTGGCCCAGGACCCCTCACCTTGTACAAGGCGCTGACTTTCTCCTGGCATTTAATGTAGTCTTCATAATCTGCGAAGACTTTAAACCTGGAGGGGAAAGGATAGGCATGTGCTATTCCTTTAGGGGGCTAGGATAAGTTCTATGAGGTCAAGGGCCAAGCCTGCCCTGTCCCAGTGGACAGCCGGGGACCTAGAGGGTCATGCTGCTTCCAAAGGCGCCTGGCTCCAACTACCAGGACCCGCGTCCGGCTTCCCCACCACACACCTGAGCCTCGATCTGCCCTGCGGCCCCACCTGAGTGATTCCCGGGCCAACCAGCTCACCGGTCATGGTGCATGAGCATATTGACAATGTCCTTGAACAGGTCGGGCTGTTTGGGGGAGAAGAAGCCACTGCTCAGCTGCTCAATGACCTGCCGAAGCTCAGGAATGCGATCGTAGTACTCCTGGGCATTGTACCTGCCAGGACAGAGCTGTGGTCAGCTCCCCGGAAAGGGGTTCCTGGCTCCTCTTCCAGAGAAAAGCTGAGAAGTCCCATGCCCCAGGGTCAAAACCCAGGTCCAGCCTGCTGCTCCCCAGGGCTGCCACATCGCCCCTGCAGGGCCTCCCTGCAACTCCCCTTCTCTGCTCAGCTTTTCATCCCTCCTTTGTGAATGAAGAAACTGAGGCCCGGAGGATACAGAAAGCTAAGTGTTAGAGCCAAGGCCCCCAAACAAGCTCTTTTCTCCCACACGCCACTGCTGTCTCTTAACCAGTTTGTTTGCTCCAAAATGGCTTTTCTCCTCCAGTAGCCCAAGTCCATATCCGGCCTTGCCCTGGGGCAGCAAGAGCAGCTAACAGGTACAACCCTTCAACTGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATCTGAGGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCAGTCTCTACAAAAATACAAAAAGTAGCCGGGCATGGTGTCGTGTGCCTGTAATCCCAGCTCCTCGGGAGGCTGAGGTGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGATAACCCTTCAGCTGACCCTCAGCGCCCCCACCACGGCTCAAAGCGCTCCACAGGCCAGTCTCAAAACCTAACCGTTCCAACCAGAAACCAGCGCTCCCCACAAAATCTCTAATCCCTCGTGCGACTCTCTAGTCCCTTGTGCGACTCTCAGGCAACTCTCCCTGCATTATGGTGTCAGCCCCCACAGTGGTCCCCCACCTGCCCCCTCCAGCACTGTCTCCATCCTGCAGCCAGAGGGTTCTTCCAGGCCTCGTTCTGAGCATGCGGGACCATGCTCACAACATCTCACAGCTCCCTCCTGCCCATGGGACAGCCAGCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGA
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GACCTGCCGCAAGGAGCCCGCACCGGCCTGGCCGACCCCACCTCCGTGCGCTCCCGCCCGCCGGCCTCGCTGCGGCTGCGGCTCCCGCCCGCTCTCCACGCCGCGGCCCCGCTCCCCGCCGCCCCGCCCCCGCCCCCGCGCCAGGCTGCCCCCTCCCCCCTCCGCCCCTGCGCGGAGCTCCGCACCGCCGGCTGCGCCACCCCCACCGGGGGCTCCCTCTCGCCCCGCACGCGGCGGTCCCTGCGGCAGCTTAACCCCTCCCCTGCCGCGCCGCCCGGGAGGCCAGGGCCGCGGGCGGGGGGCTGCGCCACTAGCTGCCCCGAGGGCGGGCGACCGGAGGCCCCGCCGCCCGGGACGCGGAGGGGGGACCGAAACGAAGAGCCCCTCCCCCAACCGCGGACGCCCCAGTGCCCCCCGCCCTGCCTGGGTGTCGGGCGGAGGAAGCCGGGAGGGGCAGGAAGCGGACTGCGGTGGGGAAGGGGCGCCCCGCCCAGCCCCCAGCTCGGGTTCCTGTTTTCGAGACAAACCGTTCCCATGGGGCTAACCCGGCCCGGGACCGGGCGTCTTCCTGCAGGCAGCGGGTGGCACAGGCCTAGTGGAGGTCGGGGGCGTGGGGACAGCTGGTCCTTGAGATAGTCTGGGGGATGGGCTAGGACAAGATGGGAATATTTTGGGGAGAGGGACCTGTGGGGAGCGAGGAATGAAATCGTGGCTATCTGGAGACGCGGCCTTGATGTCTGGGAATGGGGGCGGGGGGCCCAGTTCACACAGGAGGAACGGGGCCCCGGAAGCCTGGCTCCCCACAGGGTCGAATGGAAAGGGGCAGCCGCATGTGGCGGTGGGTTCTCCGCAGCTCGGAGACTGGAGACCTGGATGCCTGGCCAACAGGGAGGAACTTGGGAGGGGCAGCCGCAGGCGGTTGGGGTCCCCACTAGCCGGGCCTAGGAGAGCGGGTAACGGTTTCCGACCATTTGGCTTCAGACACACTCACTGTGAAACCACCGACCCCAAACCTCCCTTCCGAGGCGTGCCCCTCCCAGCCTTGGGGCGGGGGATCCAGGACCGCCCCCGCACCTCAGTCTTGGTAATGTAAGACTTAGAAACAGGACCTTTCTGTTCCTCAGTTTCCCCATAATGAGGGCCTAGACTAGGCGGTCTGCGAGTGTTCCCTGCCGTAACACTCCCCCGACTTTGGATCCAGTGTAGCCACCTGCTAAGAGACCCTTAAACGCCGCAGTAGGGCGGGGCTAAGGGCGGAGCCAAGAAGGCGCCGAGCATCCTCTGCTTCCTCCCCCTCCTGGGTCCTGCCCTCGACAGCGCGGATCCTCCGTGGTCCGGGAAGCCTCAGCCCAAGTCCCGGCTCCCAGCCCCGGTGGGCCCCACCCAGGCAGACGCCCCGCCCCCGGCCAGCGAGGCTGGCCGCTGACCTAGTATGGACACGGCACTGGGAAGAGAGGCGTGGAGGGTGACGCCAGGAAAGGGGCTGGAGAGGCCTAGGCCCCGCCCCCACGGGTCGCCCCCTCCACCTCCCATCACCGTCCCGCCGTGGGACGCACCTGCCGAGGGTGGAGGATAAGGGGGTGACTGCGCGGCTGCTGTTGAGCCCGCCAAGAGCTAAAAATATTTCCCAACAAAGAGGAGTAAGGAGGCTCCCAAGGAGAATGAATTTATTAGGGAGTGGGTGCAGTTGGTCAGACCCCATAAATAGGAGGGGACCGGGAGCCCGAGGACGGAAGGGGGCCCGTGTCCTTAGTCACGCTGGACACTGGGACATTGAGAGTGGGGAAAATGAGGGTTCCAGGAGGGGCTTAGAGATCTAACTCCAGTACCCCACCCTCTGCATGAGGTGCTGGGGCTGGCCCAAGAGAGTGTGACAGACTCAAGGGCTGGTTTGGGGTCTGGTCTGGAGGCTCAGATGGCCTCATCCGGGGCTGGCAGGCGCTGGCGGGAAGGCTCCACACCCCAGATCTCCCGGGCATACTGGGCAATGGTGCGGTCACTGGAGAACTTGCCAGAGGTGGCTATGTTCCGGATCACCATCCGCGTCCTCTCTCTTGGGTTCTGCAGGTCAAAGGGAAGCTCTGGTTCACTCTGCTGGCAGGATCTCCACCTTCTGCCTCATCCCAACCAGGGCCACCAAAGCCCTGCCAACCCCTGGCCCAGGACCCCTCACCTTGTACAAGGCGCTGACTTTCTCCTGGCATTTAATGTAGTCTTCATAATCTGCGAAGACTTTAAACCTGGAGGGGAAAGGATAGGCATGTGCTATTCCTTTAGGGGGCTAGGATAAGTTCTATGAGGTCAAGGGCCAAGCCTGCCCTGTCCCAGTGGACAGCCGGGGACCTAGAGGGTCATGCTGCTTCCAAAGGCGCCTGGCTCCAACTACCAGGACCCGCGTCCGGCTTCCCCACCACACACCTGAGCCTCGATCTGCCCTGCGGCCCCACCTGAGTGATTCCCGGGCCAACCAGCTCACCGGTCATGGTGCATGAGCATATTGACAATGTCCTTGAACAGGTCGGGCTGTTTGGGGGAGAAGAAGCCACTGCTCAGCTGCTCAATGACCTGCCGAAGCTCAGGAATGCGATCGTAGTACTCCTGGGCATTGTACCTGCCAGGACAGAGCTGTGGTCAGCTCCCCGGAAAGGGGTTCCTGGCTCCTCTTCCAGAGAAAAGCTGAGAAGTCCCATGCCCCAGGGTCAAAACCCAGGTCCAGCCTGCTGCTCCCCAGGGCTGCCACATCGCCCCTGCAGGGCCTCCCTGCAACTCCCCTTCTCTGCTCAGCTTTTCATCCCTCCTTTGTGAATGAAGAAACTGAGGCCCGGAGGATACAGAAAGCTAAGTGTTAGAGCCAAGGCCCCCAAACAAGCTCTTTTCTCCCACACGCCACTGCTGTCTCTTAACCAGTTTGTTTGCTCCAAAATGGCTTTTCTCCTCCAGTAGCCCAAGTCCATATCCGGCCTTGCCCTGGGGCAGCAAGAGCAGCTAACAGGTACAACCCTTCAACTGGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATCTGAGGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGTGAAACCCAGTCTCTACAAAAATACAAAAAGTAGCCGGGCATGGTGTCGTGTGCCTGTAATCCCAGCTCCTCGGGAGGCTGAGGTGGAAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAACCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGATAACCCTTCAGCTGACCCTCAGCGCCCCCACCACGGCTCAAAGCGCTCCACAGGCCAGTCTCAAAACCTAACCGTTCCAACCAGAAACCAGCGCTCCCCACAAAATCTCTAATCCCTCGTGCGACTCTCTAGTCCCTTGTGCGACTCTCAGGCAACTCTCCCTGCATTATGGTGTCAGCCCCCACAGTGGTCCCCCACCTGCCCCCTCCAGCACTGTCTCCATCCTGCAGCCAGAGGGTTCTTCCAGGCCTCGTTCTGAGCATGCGGGACCATGCTCACAACATCTCACAGCTCCCTCCTGCCCATGGGACAGCCAGCTTTCTAGTGAAGCCTCACAGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGA
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Task1_train_16017
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Given this variant in gene PYGM (glycogen phosphorylase, muscle associated) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Glycogen storage disease, type V
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AGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAA
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AGGAGACACTTCTTTCAGTGTTTAATGCCAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCACCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAA
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Task1_train_16018
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This sequence variant lies in PYGM (glycogen phosphorylase, muscle associated) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Glycogen storage disease
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CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACG
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CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCTGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACG
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Task1_train_16019
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Chromosome 11 houses a mutation in gene PYGM (glycogen phosphorylase, muscle associated). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Glycogen storage disease, type V
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CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCCGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACG
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CAACTCTGGGAAGCTGTTGTGGGAGTGTAAACTGGGAGAAACTTTCTGGAAAGCAGTTTGGCAATCTGTATCAAGAGCCTTAAGAACTCATACTTTTTAACTCAGAAATATCACCCTTCTGATAATTATCTTAAGGAAATCATCAGATGTGGACGTAGACATTAAAAGGTTGCTCATCACAGTAATATTTAACAAACCGGAAATTAACCTTAGTGTCCAGCCACATGGAATTGATTAAATAAGTTGTGACATGCTCATAGGATGGAATGTTATACAAACATTTAAAATATTTTTGAAGACTAATAACATGGAAAATCTCTCTCCAATGCTAAGATATCAGGATTCAAGCAGGGCGCGGTGGCTCACGCCTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACAAAAATACAAAAATTACCTGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGAGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAAATCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGACTCTGTCTCAAAAACATAAAAATAAATAGGCCAGGCGCAGTGGCTCACCCCTGTAAGCCCAGCACTTGGGAGGCCGAGGAGGGTGGATCACCTGAGGTCAGGAGATAGAGACCATCCTGGCCAAAATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGTACCCGGGCGGTGGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTGCGGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAACAAAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGCAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCAGGCGTGGCAGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGTAGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAATACATTAAAATAAAATAAAATAAAATTTTTTAATGTAATGCCAGGATAATGTCTTCTCTGAAGAACTGTTTCTGACCATAGGCCCCTTGTAACTACTGTGCCCATATTTCCCTTTTGCCCATGGCTTTCAGGGAGCAAGGATTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTTACCCAGGCTGGAGCGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCACACCATTCTCCTGCCTCAGCCTCCCGATCAGCTGGGACTACAGGCGCCTGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCTTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCGTAGAGCAAGGATTTTTTTACTTCCATTTCCCAAACAATATTATCTCTTAGGGTTGATATAATATTCTCTTCCTTTTCCTTCAGTTCTATATTACTTCTTTCTTTTCCAATTTCATTAACCTTATTTGCTGTAAGCGCCCTCTAAAGTTTCCCAGAATCCTGCTGGCCATGACCAAGACCTTGCTGGGCCTGGACCAGTCTTTCCAGACGTGCCGCTTGCTCCCAGCACCACTCTCCAGCAGCCACACCTGGGTGTCTTTTGCCCGTGAACCCTGACCCCCATACCCTCTTTGGTCAAGCTTATCCACATCCTCCACCCGCATGCCAAAGATGAAGAAGTTTTCCTCTCCCGCCTCTTCTGCCATCTCCACATTGGCCCTGTCCATGGTGCCAATGGTCAGAGCCCCGTTGAGCATGAACTTCATGTTGCCGGTGCCTGAGGCTTCAGTGCCCGCAGTGGAGATCTGCTCAGAGAGGTCTGCAGCTGGGATCACTGTGGGGTGGCAGCAGGGGGACAAGTCAACTCAGGGAAGACCCTCACACCAGCTGGGGACTCTCAGATTAGGCTGGCCCCAGGCATAGCTGGACTCAGAGTCGCCCCACCCCAAACTCCCAGTCTTCACCAGCCAAGCCTCCCTCTCACACCGCACCCCCACTGCCCTCTACCTCTTGTTGATTCTTGACCATCTAGGTCCAACCTGGATTTCCCCACCTCTGTTGCAGATTTGAAGGTAATTTCACCCTGTACTGCCTGAAATTCCACCATTAGAGGGCATCCTCATGGGGTTTTTGCTTTGTTTTGTTTCCTCTTGTTTTTTGAGACGGAGTTTTGCTTTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCACCTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACG
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Task1_train_16020
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A variant was discovered in gene PYGM (glycogen phosphorylase, muscle associated), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Glycogen storage disease, type V
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TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAAGGGGCCATTTCCAGGTCAGCCAAGCCCCCTTCACCCAGCAGGCTGCTCTGGGGGCCCTCCCAGCCCCTCCTCCTCCAGCCGCCCAGATGGGGCACGGGGCATCCATGCACCTTCCTCCCCTCCCGTCCTTGAGCTCTGATGGCTGACCCCACCTGACCCCAGCAGGCCTTCCTGGCTTCCTGGCCTTTTCCTAACGCCAGCATGACCTTGCGCCTTCCCTACCAGATATCTGCCCCCTTCCAGGCTCACTTCAGATGTGACCCATGGATGACTCCCTCTGCTGTGTTCACCTCCACAGCCAGGGCCTCCATTAGCACACAGAGCACCCTCATGCAATTAAGATGGTGTCCCTCCTCCAGGTGGATGCGAGGCTTGGGGAACACAGTGCAGGAGGGATTTCAGCCTTCAGCTGGGAGCCCTGATGCAGTGAACCACCTACACGACCATACCCAGCTGATCCCTGCAGGGACCCATGTTGACTCTACTGGCCCTACGGTGGCCTCTCACCTCAGCAATGACCTCTGCCAGCCCGGGGTTACACAGAACCAGCCAGCGCCGAGGGGTGATGCCGTTGGTCTTATTCTGGAACTTATGAGGCTCCAGCTCATAGAAGTCTTTGAAGCTGCAGGATGAGGTTGGACGAGGGTCACCACTCACCCCTGTACAATGAAGGCCTCTGCCCTGGGGCCCCTACCCTGGTGTCTTGCTGAAAGGGGCCTGGGGCAGGGAATGCAGACCTGGGGAAGGTTGGGGGTGCTGTGTGTAAGAGGAGGTCATCTCAGGACAGGGCGGCACTGGAAGGGGCTGCTGTGCTTGTAAGAATGACGCCACCTGTGAAAGGCGCCAGGGCCCAGAGACCAGAGAGTGGTCGGTGAAGGGCGGGGCTTCTGTGTGACAGAGGCGTGGAGTGGGTGGGGCCTAGAGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGACGCCCCGACTCCCAGGCCCAGACTGGGTGTCCCCCCTCACCCCCACACCATCCCCCAAGCCTCCGGACTCACGTTGAGGAAGCGCTGGTTGATCTCGTAGATGATCTGGAGGTGCCGCGGCAGCAGCGTCTCCAAGAGGTGCACCGGCCAGCGCTCCAGGGCCTCGGGCAGCACCGTGTGGTTGGTGTAGGCACAGGTCCTCACTGTCACATCCCACGCCTGGCACACGGGGTGGGCAGTCAGGATGCTGACCTCAGCCCAGTGGGTCTCCTCACACACTACGCATCCCAGTGGGCCCCCCCACTGCAGTGCCAGGTTCCAGGACGGTCCCTCTGGCCTCAGGCTCTGATCCCTTCACTCCATTCATATCCTCCCACGCTCCCAAACTGGGAAGGGAACCCCGAGGCAGAGAGCATCAGATGGGGCAGAGGGGCCCTGAAGCCCACCTTGTCCCAGTCCATCCGTTCCAGGTCCACCAGGATCCTCATCAGCTCGGGGATGGCCAGGGAGGGGTGGGTGTCATTGAGCTGGATGGCCACCTGGGGTAGGGGGAGGGGTCAGTCTGGGCTCCAAACCACATTCCATGCTATGGTCACTGCCCTATGCCATTTGGAGGCCCCCAGAGAGCCCAGCACGGTTCTGTGACTGGGCTGTGGGCAGAGGCAGGCCGGTGCTCATGGGGGTGGGAGGAATGGGGGGAGTGGGGCGGGAGGAGGAGGGAAGCCCAGGTTCTGAGCCTGTGGATTGTGAATCCTGAACAACTGACCCTCCCACACTCCCAGTCTCCACTCCCTTATCTATTACATGGGGCAGGCAGGCCGAGGCTGGAGGGAGAGGCCTAGCACACACTGTCCGGTCACAGAGTCGCCCTCCACACGCATGGTACCTTATCTGGGAAGGCATCGAAGTTCGTGCGCACGGGATCACGGCAGCCGAACTTGGAAGACTTGAAGCGACGGATGATGTCCTGGAGGGTGGCAGCCACCACGAAATACTCCTGCTTCAGCCGCAGCTCCTTCCCTTCGAAGAACTGGGGACAGCATGAGGCAGCGTGAGTCAGGGCGGTGGGGGCATGGCCTAAAGCTGCGGTGGGTGTGGCCAGGAGGGACTCCCACCCATACCGGGACCCCTGAGCCCTGAGCCGGCCCCCTCTCTGGGACCCAGGGGCCTTTCCTCCACCAAGAACTAGTGGCGAGAGACAGTGTCAGGAAGAGGGGTACAAGAACCGAGTGTGTTGTGGGTGTCGCCAGGGAACAGCCCCTCCAAAGTGCCCTTCGCTAACCCAGTTTCCTCAGGACTCAGGTGTCCTTGCACTCAAAAGACTTGAGGTGGGGGCACAGGATGCACAAGGCCAGCAATATGC
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TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCACTGCGCCTGGCCTCCTCATGGTTTAAGCATTGCCCTCTCCAGATTCTTCTTTCAAGTACAAGTATCCCAGGAAGAGACGACTGATACCTCTTCCTGAGACTGAACTAGTCAGAGCCTCCCTAGGGTCCCTGTTGGCAGCACCCACCTTTCTCGGCCAGTGAGACTCGGTAGTTCTCCAGGAAGATGACACGGAGGCGGTCACCCACTGCCGGGTCATGGTTGACCACATCCCCGATGGCTGTGACGAGTCTGATGATCATCTTGGCCATGTGGTACCCAGGTGCAGCCTGAGGGGACAAAGTCTGGGGTCAGCTCTACTGCCTGGCCCCCCACCCCCTATCCTGCAACTCAGCTGGGCTGACCTCAACCTGGATATATCAAAGGACGGGAGCCCAGGGCTGGAGCCTGGCTTCTCACCTTCCCTCCAATCATCACAGTCCGAGGCACAAAAAACTTATTGGGCTCCCTCTTGATGCCTGTGGAGAAACGAGAGGGATCCAGTGGGCCTACCTTTCCCTCTGGGTAGTAGCTCCTGACAGAGGCTGGGCTGGGACACCGTAGGCCTGACTCGAACAATCACTTGCTATGCTCTCTTAGCCTCAGTTTGCCCATCTGTGAAATGGGGATAATTCCATGTCCCAAGAGTAGTCCCAAGTCCAAAGGAGATGTTGGTTGGGCAATATGTACTATGCCGCAGGAACACGGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAAGGGGCCATTTCCAGGTCAGCCAAGCCCCCTTCACCCAGCAGGCTGCTCTGGGGGCCCTCCCAGCCCCTCCTCCTCCAGCCGCCCAGATGGGGCACGGGGCATCCATGCACCTTCCTCCCCTCCCGTCCTTGAGCTCTGATGGCTGACCCCACCTGACCCCAGCAGGCCTTCCTGGCTTCCTGGCCTTTTCCTAACGCCAGCATGACCTTGCGCCTTCCCTACCAGATATCTGCCCCCTTCCAGGCTCACTTCAGATGTGACCCATGGATGACTCCCTCTGCTGTGTTCACCTCCACAGCCAGGGCCTCCATTAGCACACAGAGCACCCTCATGCAATTAAGATGGTGTCCCTCCTCCAGGTGGATGCGAGGCTTGGGGAACACAGTGCAGGAGGGATTTCAGCCTTCAGCTGGGAGCCCTGATGCAGTGAACCACCTACACGACCATACCCAGCTGATCCCTGCAGGGACCCATGTTGACTCTACTGGCCCTACGGTGGCCTCTCACCTCAGCAATGACCTCTGCCAGCCCGGGGTTACACAGAACCAGCCAGCGCTGAGGGGTGATGCCGTTGGTCTTATTCTGGAACTTATGAGGCTCCAGCTCATAGAAGTCTTTGAAGCTGCAGGATGAGGTTGGACGAGGGTCACCACTCACCCCTGTACAATGAAGGCCTCTGCCCTGGGGCCCCTACCCTGGTGTCTTGCTGAAAGGGGCCTGGGGCAGGGAATGCAGACCTGGGGAAGGTTGGGGGTGCTGTGTGTAAGAGGAGGTCATCTCAGGACAGGGCGGCACTGGAAGGGGCTGCTGTGCTTGTAAGAATGACGCCACCTGTGAAAGGCGCCAGGGCCCAGAGACCAGAGAGTGGTCGGTGAAGGGCGGGGCTTCTGTGTGACAGAGGCGTGGAGTGGGTGGGGCCTAGAGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGACGCCCCGACTCCCAGGCCCAGACTGGGTGTCCCCCCTCACCCCCACACCATCCCCCAAGCCTCCGGACTCACGTTGAGGAAGCGCTGGTTGATCTCGTAGATGATCTGGAGGTGCCGCGGCAGCAGCGTCTCCAAGAGGTGCACCGGCCAGCGCTCCAGGGCCTCGGGCAGCACCGTGTGGTTGGTGTAGGCACAGGTCCTCACTGTCACATCCCACGCCTGGCACACGGGGTGGGCAGTCAGGATGCTGACCTCAGCCCAGTGGGTCTCCTCACACACTACGCATCCCAGTGGGCCCCCCCACTGCAGTGCCAGGTTCCAGGACGGTCCCTCTGGCCTCAGGCTCTGATCCCTTCACTCCATTCATATCCTCCCACGCTCCCAAACTGGGAAGGGAACCCCGAGGCAGAGAGCATCAGATGGGGCAGAGGGGCCCTGAAGCCCACCTTGTCCCAGTCCATCCGTTCCAGGTCCACCAGGATCCTCATCAGCTCGGGGATGGCCAGGGAGGGGTGGGTGTCATTGAGCTGGATGGCCACCTGGGGTAGGGGGAGGGGTCAGTCTGGGCTCCAAACCACATTCCATGCTATGGTCACTGCCCTATGCCATTTGGAGGCCCCCAGAGAGCCCAGCACGGTTCTGTGACTGGGCTGTGGGCAGAGGCAGGCCGGTGCTCATGGGGGTGGGAGGAATGGGGGGAGTGGGGCGGGAGGAGGAGGGAAGCCCAGGTTCTGAGCCTGTGGATTGTGAATCCTGAACAACTGACCCTCCCACACTCCCAGTCTCCACTCCCTTATCTATTACATGGGGCAGGCAGGCCGAGGCTGGAGGGAGAGGCCTAGCACACACTGTCCGGTCACAGAGTCGCCCTCCACACGCATGGTACCTTATCTGGGAAGGCATCGAAGTTCGTGCGCACGGGATCACGGCAGCCGAACTTGGAAGACTTGAAGCGACGGATGATGTCCTGGAGGGTGGCAGCCACCACGAAATACTCCTGCTTCAGCCGCAGCTCCTTCCCTTCGAAGAACTGGGGACAGCATGAGGCAGCGTGAGTCAGGGCGGTGGGGGCATGGCCTAAAGCTGCGGTGGGTGTGGCCAGGAGGGACTCCCACCCATACCGGGACCCCTGAGCCCTGAGCCGGCCCCCTCTCTGGGACCCAGGGGCCTTTCCTCCACCAAGAACTAGTGGCGAGAGACAGTGTCAGGAAGAGGGGTACAAGAACCGAGTGTGTTGTGGGTGTCGCCAGGGAACAGCCCCTCCAAAGTGCCCTTCGCTAACCCAGTTTCCTCAGGACTCAGGTGTCCTTGCACTCAAAAGACTTGAGGTGGGGGCACAGGATGCACAAGGCCAGCAATATGC
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Task1_train_16021
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The variant affects gene PYGM (glycogen phosphorylase, muscle associated), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Glycogen storage disease, type V
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GGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAAGGGGCCATTTCCAGGTCAGCCAAGCCCCCTTCACCCAGCAGGCTGCTCTGGGGGCCCTCCCAGCCCCTCCTCCTCCAGCCGCCCAGATGGGGCACGGGGCATCCATGCACCTTCCTCCCCTCCCGTCCTTGAGCTCTGATGGCTGACCCCACCTGACCCCAGCAGGCCTTCCTGGCTTCCTGGCCTTTTCCTAACGCCAGCATGACCTTGCGCCTTCCCTACCAGATATCTGCCCCCTTCCAGGCTCACTTCAGATGTGACCCATGGATGACTCCCTCTGCTGTGTTCACCTCCACAGCCAGGGCCTCCATTAGCACACAGAGCACCCTCATGCAATTAAGATGGTGTCCCTCCTCCAGGTGGATGCGAGGCTTGGGGAACACAGTGCAGGAGGGATTTCAGCCTTCAGCTGGGAGCCCTGATGCAGTGAACCACCTACACGACCATACCCAGCTGATCCCTGCAGGGACCCATGTTGACTCTACTGGCCCTACGGTGGCCTCTCACCTCAGCAATGACCTCTGCCAGCCCGGGGTTACACAGAACCAGCCAGCGCCGAGGGGTGATGCCGTTGGTCTTATTCTGGAACTTATGAGGCTCCAGCTCATAGAAGTCTTTGAAGCTGCAGGATGAGGTTGGACGAGGGTCACCACTCACCCCTGTACAATGAAGGCCTCTGCCCTGGGGCCCCTACCCTGGTGTCTTGCTGAAAGGGGCCTGGGGCAGGGAATGCAGACCTGGGGAAGGTTGGGGGTGCTGTGTGTAAGAGGAGGTCATCTCAGGACAGGGCGGCACTGGAAGGGGCTGCTGTGCTTGTAAGAATGACGCCACCTGTGAAAGGCGCCAGGGCCCAGAGACCAGAGAGTGGTCGGTGAAGGGCGGGGCTTCTGTGTGACAGAGGCGTGGAGTGGGTGGGGCCTAGAGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGACGCCCCGACTCCCAGGCCCAGACTGGGTGTCCCCCCTCACCCCCACACCATCCCCCAAGCCTCCGGACTCACGTTGAGGAAGCGCTGGTTGATCTCGTAGATGATCTGGAGGTGCCGCGGCAGCAGCGTCTCCAAGAGGTGCACCGGCCAGCGCTCCAGGGCCTCGGGCAGCACCGTGTGGTTGGTGTAGGCACAGGTCCTCACTGTCACATCCCACGCCTGGCACACGGGGTGGGCAGTCAGGATGCTGACCTCAGCCCAGTGGGTCTCCTCACACACTACGCATCCCAGTGGGCCCCCCCACTGCAGTGCCAGGTTCCAGGACGGTCCCTCTGGCCTCAGGCTCTGATCCCTTCACTCCATTCATATCCTCCCACGCTCCCAAACTGGGAAGGGAACCCCGAGGCAGAGAGCATCAGATGGGGCAGAGGGGCCCTGAAGCCCACCTTGTCCCAGTCCATCCGTTCCAGGTCCACCAGGATCCTCATCAGCTCGGGGATGGCCAGGGAGGGGTGGGTGTCATTGAGCTGGATGGCCACCTGGGGTAGGGGGAGGGGTCAGTCTGGGCTCCAAACCACATTCCATGCTATGGTCACTGCCCTATGCCATTTGGAGGCCCCCAGAGAGCCCAGCACGGTTCTGTGACTGGGCTGTGGGCAGAGGCAGGCCGGTGCTCATGGGGGTGGGAGGAATGGGGGGAGTGGGGCGGGAGGAGGAGGGAAGCCCAGGTTCTGAGCCTGTGGATTGTGAATCCTGAACAACTGACCCTCCCACACTCCCAGTCTCCACTCCCTTATCTATTACATGGGGCAGGCAGGCCGAGGCTGGAGGGAGAGGCCTAGCACACACTGTCCGGTCACAGAGTCGCCCTCCACACGCATGGTACCTTATCTGGGAAGGCATCGAAGTTCGTGCGCACGGGATCACGGCAGCCGAACTTGGAAGACTTGAAGCGACGGATGATGTCCTGGAGGGTGGCAGCCACCACGAAATACTCCTGCTTCAGCCGCAGCTCCTTCCCTTCGAAGAACTGGGGACAGCATGAGGCAGCGTGAGTCAGGGCGGTGGGGGCATGGCCTAAAGCTGCGGTGGGTGTGGCCAGGAGGGACTCCCACCCATACCGGGACCCCTGAGCCCTGAGCCGGCCCCCTCTCTGGGACCCAGGGGCCTTTCCTCCACCAAGAACTAGTGGCGAGAGACAGTGTCAGGAAGAGGGGTACAAGAACCGAGTGTGTTGTGGGTGTCGCCAGGGAACAGCCCCTCCAAAGTGCCCTTCGCTAACCCAGTTTCCTCAGGACTCAGGTGTCCTTGCACTCAAAAGACTTGAGGTGGGGGCACAGGATGCACAAGGCCAGCAATATGCCCTGGGTGTGACTAGGGCACCAGCAAGTGTCCTTCCCCAGCTCTCCCTGACCCCTGCTGCCAAGGACTCAGGCTTCCAGCCCCCAGCCCAGGGGGTGACGCACATTATCATTGGGGTACAGGACACGAGAGATGTTCTCCGCCAGGTTTCGGTCCAACACAGCCTGGATGTAGCCACCGACATTGACTGAGGGACAAAAGTGGGGACAGGGTAAGGCCTGCGCTGGGCGTGGCCGGCGGGCAAGCTGGGGTTGCTGGCTACCAGTGGATGAACTCACAGTCCTTGAGGTTGAAGTCATTGGGAGCCTTGGCAGACCAGAGGCGCATGGTGTTGACAACATTGTTGCGATAGCCAGGCACGGGCGTATCGTAGGGCATGGCCAGTACCACCTGCGGGGGGCAATCCTGTCAGGAGCTGGCCAGCCCTGGCAATTGCCTCCCTCCCCTCAGGGCTGGGACTCAAGGCTTTATCCCTGCACTCTGCAGACCCAGGCTCTTGTCCTTGTCTAGCATCGATGAGCTGGGTAACCATGAGCAAACCCCATAGTCTCTCTGGACCGCATCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGT
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GGGGGAGCACTGAGAGACAGGGTAGAGTGGCTGCCACTCACGGTTGTACAGGGTGATGACATGGAGGCAGTTGAGGAGCTGTCGTTTATATTCGTGAATCCGCTTCACCTGGATGTCGAAGAGTGAGTTGGGGTTGATGTGGACTTTGTATTCCCTCTCTAGGTAGGCAGCAAACTTCAACTTGTTTTCCTGGAGGCAGAGACGGGGAAGGGCTCACCAACAGGCCACAGCCTCAGGAAATCCTACAGTCCACACTCCAGTCAGCCCCAGGAGGATGGCTACCAGGAGGCTCACTGGCTACTTCTGTCCACTCCTGTACCAGGGCAGACATTGCTAATCAATGTCAGCACTGTTCATGTGAGGTCAGATGATGCCTTCCCACCACAGACTCCAGGCAACTTCCACCAACGGCCTGGGCTGGCAGGAGAGATGAGCTCTATTTGCCACGCCTGACCCAGACATCTGGCCCCTCCAGCGCTCTCCACACAGCACAGCTGTCCCACATTGCATCTCTCCCCACCTGCTTCACTTTGGCCACATCCCGAATGAAAGCTTCATCATCCACAAAGGAGAGCAGTTTGCGCAGCTGGTCCAGGTCAGAGATGAAGTCCTCCCCGATGCGCTATGGGAAGACGGCTCTCAGCCAAGCCCATCCCCATGTCCTCCCTCCTCCCAACACAGAAGGGGCCATTTCCAGGTCAGCCAAGCCCCCTTCACCCAGCAGGCTGCTCTGGGGGCCCTCCCAGCCCCTCCTCCTCCAGCCGCCCAGATGGGGCACGGGGCATCCATGCACCTTCCTCCCCTCCCGTCCTTGAGCTCTGATGGCTGACCCCACCTGACCCCAGCAGGCCTTCCTGGCTTCCTGGCCTTTTCCTAACGCCAGCATGACCTTGCGCCTTCCCTACCAGATATCTGCCCCCTTCCAGGCTCACTTCAGATGTGACCCATGGATGACTCCCTCTGCTGTGTTCACCTCCACAGCCAGGGCCTCCATTAGCACACAGAGCACCCTCATGCAATTAAGATGGTGTCCCTCCTCCAGGTGGATGCGAGGCTTGGGGAACACAGTGCAGGAGGGATTTCAGCCTTCAGCTGGGAGCCCTGATGCAGTGAACCACCTACACGACCATACCCAGCTGATCCCTGCAGGGACCCATGTTGACTCTACTGGCCCTACGGTGGCCTCTCACCTCAGCAATGACCTCTGCCAGCCCGGGGTTACACAGAACCAGCCAGCGCCGAGGGGTGATGCCGTTGGTCTTATTCTGGAACTTATGAGGCTCCAGCTCATAGAAGTCTTTGAAGCTGCAGGATGAGGTTGGACGAGGGTCACCACTCACCCCTGTACAATGAAGGCCTCTGCCCTGGGGCCCCTACCCTGGTGTCTTGCTGAAAGGGGCCTGGGGCAGGGAATGCAGACCTGGGGAAGGTTGGGGGTGCTGTGTGTAAGAGGAGGTCATCTCAGGACAGGGCGGCACTGGAAGGGGCTGCTGTGCTTGTAAGAATGACGCCACCTGTGAAAGGCGCCAGGGCCCAGAGACCAGAGAGTGGTCGGTGAAGGGCGGGGCTTCTGTGTGACAGAGGCGTGGAGTGGGTGGGGCCTAGAGAGGGGCGGGATCTGGAAAGCGGGGCTCACATGGTCTTCTTGAGGATCTCGGAGTGGATGCGCGCCACGCCGTTGACGGCGTGCGACCCCGCGATGCACAGGTGTGCCATGTTGATGCGCTTCACTGCGCCCTCCTCCACCAGCGACATGCGCCGCAGCCGGTCTACGTCCCCTGGGAATGCGGCCGCCACCCGCTGTGCCCAGAGAGCCCAGAGCTAGAACCAGACCCAGGAACCCCCATCCCCAGTCCCCAGCCCCACACCCCCAGAGCTCTGCCCAGTGCCCCCACTGCCCCAGAGTCTCAGGGCCCTGGCTGGACGCCCCGACTCCCAGGCCCAGACTGGGTGTCCCCCCTCACCCCCACACCATCCCCCAAGCCTCCGGACTCACGTTGAGGAAGCGCTGGTTGATCTCGTAGATGATCTGGAGGTGCCGCGGCAGCGGCGTCTCCAAGAGGTGCACCGGCCAGCGCTCCAGGGCCTCGGGCAGCACCGTGTGGTTGGTGTAGGCACAGGTCCTCACTGTCACATCCCACGCCTGGCACACGGGGTGGGCAGTCAGGATGCTGACCTCAGCCCAGTGGGTCTCCTCACACACTACGCATCCCAGTGGGCCCCCCCACTGCAGTGCCAGGTTCCAGGACGGTCCCTCTGGCCTCAGGCTCTGATCCCTTCACTCCATTCATATCCTCCCACGCTCCCAAACTGGGAAGGGAACCCCGAGGCAGAGAGCATCAGATGGGGCAGAGGGGCCCTGAAGCCCACCTTGTCCCAGTCCATCCGTTCCAGGTCCACCAGGATCCTCATCAGCTCGGGGATGGCCAGGGAGGGGTGGGTGTCATTGAGCTGGATGGCCACCTGGGGTAGGGGGAGGGGTCAGTCTGGGCTCCAAACCACATTCCATGCTATGGTCACTGCCCTATGCCATTTGGAGGCCCCCAGAGAGCCCAGCACGGTTCTGTGACTGGGCTGTGGGCAGAGGCAGGCCGGTGCTCATGGGGGTGGGAGGAATGGGGGGAGTGGGGCGGGAGGAGGAGGGAAGCCCAGGTTCTGAGCCTGTGGATTGTGAATCCTGAACAACTGACCCTCCCACACTCCCAGTCTCCACTCCCTTATCTATTACATGGGGCAGGCAGGCCGAGGCTGGAGGGAGAGGCCTAGCACACACTGTCCGGTCACAGAGTCGCCCTCCACACGCATGGTACCTTATCTGGGAAGGCATCGAAGTTCGTGCGCACGGGATCACGGCAGCCGAACTTGGAAGACTTGAAGCGACGGATGATGTCCTGGAGGGTGGCAGCCACCACGAAATACTCCTGCTTCAGCCGCAGCTCCTTCCCTTCGAAGAACTGGGGACAGCATGAGGCAGCGTGAGTCAGGGCGGTGGGGGCATGGCCTAAAGCTGCGGTGGGTGTGGCCAGGAGGGACTCCCACCCATACCGGGACCCCTGAGCCCTGAGCCGGCCCCCTCTCTGGGACCCAGGGGCCTTTCCTCCACCAAGAACTAGTGGCGAGAGACAGTGTCAGGAAGAGGGGTACAAGAACCGAGTGTGTTGTGGGTGTCGCCAGGGAACAGCCCCTCCAAAGTGCCCTTCGCTAACCCAGTTTCCTCAGGACTCAGGTGTCCTTGCACTCAAAAGACTTGAGGTGGGGGCACAGGATGCACAAGGCCAGCAATATGCCCTGGGTGTGACTAGGGCACCAGCAAGTGTCCTTCCCCAGCTCTCCCTGACCCCTGCTGCCAAGGACTCAGGCTTCCAGCCCCCAGCCCAGGGGGTGACGCACATTATCATTGGGGTACAGGACACGAGAGATGTTCTCCGCCAGGTTTCGGTCCAACACAGCCTGGATGTAGCCACCGACATTGACTGAGGGACAAAAGTGGGGACAGGGTAAGGCCTGCGCTGGGCGTGGCCGGCGGGCAAGCTGGGGTTGCTGGCTACCAGTGGATGAACTCACAGTCCTTGAGGTTGAAGTCATTGGGAGCCTTGGCAGACCAGAGGCGCATGGTGTTGACAACATTGTTGCGATAGCCAGGCACGGGCGTATCGTAGGGCATGGCCAGTACCACCTGCGGGGGGCAATCCTGTCAGGAGCTGGCCAGCCCTGGCAATTGCCTCCCTCCCCTCAGGGCTGGGACTCAAGGCTTTATCCCTGCACTCTGCAGACCCAGGCTCTTGTCCTTGTCTAGCATCGATGAGCTGGGTAACCATGAGCAAACCCCATAGTCTCTCTGGACCGCATCTAGAGCAAAGACACCCTCAACACCTCCCCGACACCCATAAGCCCTGCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGT
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Task1_train_16022
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This sequence change occurs on Chromosome 11, altering PYGM (glycogen phosphorylase, muscle associated). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Glycogen storage disease, type V
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GCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACATTCACTCCTCTAAGCGAGCCCTTTTAAGGGGCATCGCCCTCCCTCCCCACATTCAGTCACCCTGATTGGTGCAGGGTGGGAGTTGACACAGAGAGAGGGAAGGGACCCATCCCCGAGCACACAGCCAGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACCCTGGCTAATTTTTTAAATTTTTTTTTTGAGACGAGGTCTGGCTCTGTCACCCAGGCTCCTGGGCTCAAGCAGTTCTCCCACTTCAGCCACCCGAGTAGCTGGGACTACAGGCGCACACCATCACGCCTGGCTAATTTTTGTATTTTTTGTAGACGGGGTTTCGCCCTCTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGACCCACTGCCCCAGTCTATTTTTTTTATTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTTGAAATCCTGAACTCAAGCCATACTGTCACCTCGGCCTTCTAAAGTGCTGGGATTACGGGCATGAGCCACTGTGTCTAGATTTGGTTTGGTTTTAGGATCCCTCTAACTTGCTGTGTGATGAGTGAATTCCTTTCGGAAGGCTCCAGTTTTCTCCTGTCCCCCTTTCTGGGCTGCTGCTGTCGAGATGTTCAGGGCAGACTCAAGTCGCCAAGATGGTCCTTTGATAAATCTCATGGTGTGGAGTGGAGCCAGGTCATGGGGAGACACTGGGGGAGCAGGGCAGCCTCTCTCCCCTTCCAGACTCTGCACTTAGGCTGGCTCCCCTGTGTCCCTGTCTCCAGTCTCTCCTGGCTTCAGCTGTGTGACTTTGAGTAAGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCT
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GCCTGGGCAGACGGTGGTGAGGAAAATGGAAGGAGGCAGGTGATAAGCCCGGAACCCAGGAGGGGCTCTGTTGGCGACCACTCTGCAGCAATGGGGGCTGGGCTGGCCAGCCTGGCCTGAGCAAAAGCTAGAGGACACTGTGGACTCATGAGAGGGCTGGGGGAACCCAGGGCCAGGCTGAAGGGGTCACAGAGGTCAAGTCCATCCAAAGGTCTCATCTCTGGTTGACCACAGGGCTAATTCACGGTGACTAATTCTGCCCCGCCTTCCATAACTAGCAAACATCAATAATTGTCTGCTACCACGGTGCCAGGGGTACATTCACTCCTCTAAGCGAGCCCTTTTAAGGGGCATCGCCCTCCCTCCCCACATTCAGTCACCCTGATTGGTGCAGGGTGGGAGTTGACACAGAGAGAGGGAAGGGACCCATCCCCGAGCACACAGCCAGGCTGGCAGCACCAGAGGGAGCCAGGTCTCCTGCCTTCCAGCCACAGCCACTTGTGCCAGTTGCCACGTGCACCTGGCATGGACTGCCAGCAGCCCCCACTGCATCTTAACCTGGAGGACAACAAACAAATGCTCAGTTCTGAAAGCCTAGTGGTTTATCTGCAGCCCATCTGGGGGCTGATGACCTGAAGCTTCAGCAGGAAGATTGCCTGAACTGGGATTTGTTTTTTGTTTGTTTGTTTTTGAGATGGGACCTCACTCTGTTACCCAGGCTGGAGTGCAGTGGCACTATCTTGGCTCACTGTAACCTCCACCTCCTGGATTCAAGCGATTCTCTGGCTTCAGCCTCCTGAGTGGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATGTTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACCCTGGCTAATTTTTTAAATTTTTTTTTTGAGACGAGGTCTGGCTCTGTCACCCAGGCTCCTGGGCTCAAGCAGTTCTCCCACTTCAGCCACCCGAGTAGCTGGGACTACAGGCGCACACCATCACGCCTGGCTAATTTTTGTATTTTTTGTAGACGGGGTTTCGCCCTCTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGACCCACTGCCCCAGTCTATTTTTTTTATTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTTGAAATCCTGAACTCAAGCCATACTGTCACCTCGGCCTTCTAAAGTGCTGGGATTACGGGCATGAGCCACTGTGTCTAGATTTGGTTTGGTTTTAGGATCCCTCTAACTTGCTGTGTGATGAGTGAATTCCTTTCGGAAGGCTCCAGTTTTCTCCTGTCCCCCTTTCTGGGCTGCTGCTGTCGAGATGTTCAGGGCAGACTCAAGTCGCCAAGATGGTCCTTTGATAAATCTCATGGTGTGGAGTGGAGCCAGGTCATGGGGAGACACTGGGGGAGCAGGGCAGCCTCTCTCCCCTTCCAGACTCTGCACTTAGGCTGGCTCCCCTGTGTCCCTGTCTCCAGTCTCTCCTGGCTTCAGCTGTGTGACTTTGAGTAAGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCTGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCT
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Task1_train_16023
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Gene PYGM (glycogen phosphorylase, muscle associated), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Glycogen storage disease, type V
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TTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACCCTGGCTAATTTTTTAAATTTTTTTTTTGAGACGAGGTCTGGCTCTGTCACCCAGGCTCCTGGGCTCAAGCAGTTCTCCCACTTCAGCCACCCGAGTAGCTGGGACTACAGGCGCACACCATCACGCCTGGCTAATTTTTGTATTTTTTGTAGACGGGGTTTCGCCCTCTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGACCCACTGCCCCAGTCTATTTTTTTTATTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTTGAAATCCTGAACTCAAGCCATACTGTCACCTCGGCCTTCTAAAGTGCTGGGATTACGGGCATGAGCCACTGTGTCTAGATTTGGTTTGGTTTTAGGATCCCTCTAACTTGCTGTGTGATGAGTGAATTCCTTTCGGAAGGCTCCAGTTTTCTCCTGTCCCCCTTTCTGGGCTGCTGCTGTCGAGATGTTCAGGGCAGACTCAAGTCGCCAAGATGGTCCTTTGATAAATCTCATGGTGTGGAGTGGAGCCAGGTCATGGGGAGACACTGGGGGAGCAGGGCAGCCTCTCTCCCCTTCCAGACTCTGCACTTAGGCTGGCTCCCCTGTGTCCCTGTCTCCAGTCTCTCCTGGCTTCAGCTGTGTGACTTTGAGTAAGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACATGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGT
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TTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATATTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGTCACCACGCCCGGCCTAAACTGGGATTTGTACACCTGGTTTGGTTTTAAGGTTTTCAGTTTTTGGTCTTTTTGCTTTTTGAAACAGTCTCACTCTGTCACACAGGCTGGCTGGAGTGCAGTTGTACAATCATAGCTCACTGCAGCCTTTAAATCCTGGACTCAAGTGATCCTCCCACTGAAGCCTCAGAGTAGCTGGGACTACAGGCATGCACCAGCACCCTGGCTAATTTTTTAAATTTTTTTTTTGAGACGAGGTCTGGCTCTGTCACCCAGGCTCCTGGGCTCAAGCAGTTCTCCCACTTCAGCCACCCGAGTAGCTGGGACTACAGGCGCACACCATCACGCCTGGCTAATTTTTGTATTTTTTGTAGACGGGGTTTCGCCCTCTTGTCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTATGACCCACTGCCCCAGTCTATTTTTTTTATTTTTTGTAGAGACAGGGTCTCTCTATGTTGCCCAGGCTGGTCTTGAAATCCTGAACTCAAGCCATACTGTCACCTCGGCCTTCTAAAGTGCTGGGATTACGGGCATGAGCCACTGTGTCTAGATTTGGTTTGGTTTTAGGATCCCTCTAACTTGCTGTGTGATGAGTGAATTCCTTTCGGAAGGCTCCAGTTTTCTCCTGTCCCCCTTTCTGGGCTGCTGCTGTCGAGATGTTCAGGGCAGACTCAAGTCGCCAAGATGGTCCTTTGATAAATCTCATGGTGTGGAGTGGAGCCAGGTCATGGGGAGACACTGGGGGAGCAGGGCAGCCTCTCTCCCCTTCCAGACTCTGCACTTAGGCTGGCTCCCCTGTGTCCCTGTCTCCAGTCTCTCCTGGCTTCAGCTGTGTGACTTTGAGTAAGTCACTTAACCTCTCTGAGCCTCAGCATCCTCAGGTGTAAAATACACTGGGTCCTGCTTCCTCTCTGGGCTTCCTTCTCTTCCCTCCCCTTCTCTGGGCTCCCCTGACCCCCAGCTTCATCCTCACCTGTGTGTCCACCCACTTGGCACCCTGGCTGGTGTGCTCCACATGGCCGTAGAAGTGCACAGGTAGCGTGAACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCATCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACATGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGT
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Task1_train_16024
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Given a variant located on Chromosome 11 and affecting PYGM (glycogen phosphorylase, muscle associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Glycogen storage disease, type V
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ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACATGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGTTCTCCCTGTGATTCCACTGCTTAGGAAGTGATTAGAGGCCTTCTTTCACTTCTTCCTGCCACCTGGGGCCACACTCTGAGCAGGATTTTGTAAACCAGCTCTGTGACCTGGCCTATAAAATGGGTGCCTAATCTGTACCTCGAGGACCTCACCCCATTTGTGTGCATAGCCCCACAGCTTTGAGCCCTTCCCTGGAGGCTTTGGCTATCCTCCCATTCACTGCTGTGTTCTGGCCCCAGCACTGACTTGCTGTGTGACCTCAAGCTGGTTGCTTTACCTTTCTGAGCTTTGGATTCCTTCACCAAATTTAGACTCTCCAATGAGAAAAAAAAAAATCCCTGCCTCTCAGCTGCTGCCTCCTCATCTTGTGAGGGCAGGCTTCGGATCCTGCTGTTCTTTAAGAGAAAGGAACCAGGACCTTGTGCTAGTTCAAAGGCTGTTTGGGCCTCCCGGGTGGTGGGCCGGTGGAGGGGAAGAGCTGGGTGTTCTGTTCTGAAGGCCAAGGAAGCAGGTCAAAAGCCTGGACAGCTGCAGGATACTATTGAGAGCCTGGTTCGGAGAAAGCCAAGCTGTTTCTGAGAACTTTTTTTTTTTTTTTTTTGAGGTAGAGTTTCATTCTTGTCGCCCAGGCTAGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTCCGATCACTTTCTGAGCCATGGCAGACCCAGCCCTGGAATCACCGGCTTAGTATGTGGGCCAAACTTCAAGTCCTACAGAGGTCTCCAGGCTCCCAAGCCCTGCTCTACCCCTGCCCCCAAAAGGCACGGGCACACTGTCTTCTGTGGTGCCTGCCACATTTCCAAGTAGAGAAAAAAGATCGGGAAAAAAACACCAAAATACACCTCCACAGACACGGGGATGCAAACAACTTTTCCTTACATTTTTCTGTTAATTTCCAATTTCTCTTAAGAAGTGTTTCATAAACCATTAAAAAACAATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGA
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ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACAAGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGTTCTCCCTGTGATTCCACTGCTTAGGAAGTGATTAGAGGCCTTCTTTCACTTCTTCCTGCCACCTGGGGCCACACTCTGAGCAGGATTTTGTAAACCAGCTCTGTGACCTGGCCTATAAAATGGGTGCCTAATCTGTACCTCGAGGACCTCACCCCATTTGTGTGCATAGCCCCACAGCTTTGAGCCCTTCCCTGGAGGCTTTGGCTATCCTCCCATTCACTGCTGTGTTCTGGCCCCAGCACTGACTTGCTGTGTGACCTCAAGCTGGTTGCTTTACCTTTCTGAGCTTTGGATTCCTTCACCAAATTTAGACTCTCCAATGAGAAAAAAAAAAATCCCTGCCTCTCAGCTGCTGCCTCCTCATCTTGTGAGGGCAGGCTTCGGATCCTGCTGTTCTTTAAGAGAAAGGAACCAGGACCTTGTGCTAGTTCAAAGGCTGTTTGGGCCTCCCGGGTGGTGGGCCGGTGGAGGGGAAGAGCTGGGTGTTCTGTTCTGAAGGCCAAGGAAGCAGGTCAAAAGCCTGGACAGCTGCAGGATACTATTGAGAGCCTGGTTCGGAGAAAGCCAAGCTGTTTCTGAGAACTTTTTTTTTTTTTTTTTTGAGGTAGAGTTTCATTCTTGTCGCCCAGGCTAGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTCCGATCACTTTCTGAGCCATGGCAGACCCAGCCCTGGAATCACCGGCTTAGTATGTGGGCCAAACTTCAAGTCCTACAGAGGTCTCCAGGCTCCCAAGCCCTGCTCTACCCCTGCCCCCAAAAGGCACGGGCACACTGTCTTCTGTGGTGCCTGCCACATTTCCAAGTAGAGAAAAAAGATCGGGAAAAAAACACCAAAATACACCTCCACAGACACGGGGATGCAAACAACTTTTCCTTACATTTTTCTGTTAATTTCCAATTTCTCTTAAGAAGTGTTTCATAAACCATTAAAAAACAATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGA
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Task1_train_16025
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A variant was discovered in gene PYGM (glycogen phosphorylase, muscle associated), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Glycogen storage disease, type V
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ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACATGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGTTCTCCCTGTGATTCCACTGCTTAGGAAGTGATTAGAGGCCTTCTTTCACTTCTTCCTGCCACCTGGGGCCACACTCTGAGCAGGATTTTGTAAACCAGCTCTGTGACCTGGCCTATAAAATGGGTGCCTAATCTGTACCTCGAGGACCTCACCCCATTTGTGTGCATAGCCCCACAGCTTTGAGCCCTTCCCTGGAGGCTTTGGCTATCCTCCCATTCACTGCTGTGTTCTGGCCCCAGCACTGACTTGCTGTGTGACCTCAAGCTGGTTGCTTTACCTTTCTGAGCTTTGGATTCCTTCACCAAATTTAGACTCTCCAATGAGAAAAAAAAAAATCCCTGCCTCTCAGCTGCTGCCTCCTCATCTTGTGAGGGCAGGCTTCGGATCCTGCTGTTCTTTAAGAGAAAGGAACCAGGACCTTGTGCTAGTTCAAAGGCTGTTTGGGCCTCCCGGGTGGTGGGCCGGTGGAGGGGAAGAGCTGGGTGTTCTGTTCTGAAGGCCAAGGAAGCAGGTCAAAAGCCTGGACAGCTGCAGGATACTATTGAGAGCCTGGTTCGGAGAAAGCCAAGCTGTTTCTGAGAACTTTTTTTTTTTTTTTTTTGAGGTAGAGTTTCATTCTTGTCGCCCAGGCTAGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTCCGATCACTTTCTGAGCCATGGCAGACCCAGCCCTGGAATCACCGGCTTAGTATGTGGGCCAAACTTCAAGTCCTACAGAGGTCTCCAGGCTCCCAAGCCCTGCTCTACCCCTGCCCCCAAAAGGCACGGGCACACTGTCTTCTGTGGTGCCTGCCACATTTCCAAGTAGAGAAAAAAGATCGGGAAAAAAACACCAAAATACACCTCCACAGACACGGGGATGCAAACAACTTTTCCTTACATTTTTCTGTTAATTTCCAATTTCTCTTAAGAAGTGTTTCATAAACCATTAAAAAACAATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGA
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ACTCGGGCCGGGCCTTCTCCCAGGGGTTGCCGTAGCGAAGCCAGTCATCGGCCTCCTCCATCTGCACCCAAGGCAGGTCAGGGAGAAAGGCCAGCAGTATCAGTACAGGCACTCACAGTGCACGGTGGGGCAGGGTGGGGGCCGTGGGCCGGTGTACCCTACACCAAGTATAAGTCAGGAGCTCTGAGGTGGGCCCCTGGTCTGCTGGGCTATCGAGTGGGACACGGACCACCTGTTTCAGGGGCACCAGCTGGCTTTGGGTCGGGGGGTGGGGAGCAGCAAGGATGCTTTCCACAGAGCTTGCGGGGCTGTTTCGGACCTTGCCAGAGATGATAAACAAGTGGGGGTCTTCCCCATCCTGACTAGACCCCACAAGTTAGAGCCAAGGCTGCTCACCTGCCAGCCCCCGGAGATCTTCTGGTTAAAAATCCCAAACTCATAGCGAATCCCGTAGCCATAGGCGGCCAGGCCCAGTGTTGCCATGGAGTCAAGAAAGCAGGCTGGGGGTGTGCAGGGAGGTGGCTGTCAGGGACCCAGCAAGGAGGACCCCATCGGCCCACTCCACCCTCACGGCCCTGTCTTCTTACCTGCCAGCCGGCCCAGGCCCCCGTTGCCCAGCCCCGCATCCTCCTCAATTTCCTCCAGCTCCTCCATGTCCAGGCCCAGCTGGAGGAGTGAGGGTGACAGTGGTCAGGGTCAAGTGTCAGCAGTGGAATCCCCCAGTCCCCACGGCTTGCCCCACCCCACACACACCTGGTAGGTGGCCTCGTCACAGGCATTCTCTAAGGCCAGGTTCACCATGGTGTTCTGTAGCGTCCGTCCCATATAGAACTCTAAAGACAGGTAGTAGATCCTCTGCCCAGAGAGACGGATGGGCAGGGAATGGGGTCAGGGCCACACACCAACACTCAGCCAGGCCCAGCCACGCCTGGACCTCTGGCCCGCCTGCCCTGCTCAGCAGTCCCATCCCTGTCCCCAATTTGTTTCTCCCTGTCTCAGGCTTTGGGGCCCAGCGGTTAAGGTTCTGGTCCCAGCATTCCTCTGACTTTGGACAAATCACTCTCTTTGGCCTCAGTCTCCTCATCTGGGAAATAGCGCTGGCCATACCCACTTCAGGGACTGAGGTACTCGGGAGAATGGGCACCCCTTCCCCCTGCACACACCCCCAGAGAAAAAAGTCATTTGCTCAAGGTCACACAGTGGCTAGAGACTGGGCTAGAGACTGTCACCTCCCATCCTTGCACTGTCCAGTTCCCCTTGGCCCTCAAGCCTCAATCCCAAGGAGACCCAGAGGCACCAGAAACTAGGATGCTGCCAGTGCCTGGTCTCCCAGTTTCCTGGGTCCCCTCCTGGGCCGTCTGCCCGCCCCTCCCCCACTCCCCACCGAGGCGTGTCAGGTTGCTGACATTTACCAGTGACCCCACCGGACACTTGATCTCTGCCGCCCCAGCTGCCCCAGCCCCGCCTGCTGCACAGGCACACCGCGCATACATGCAGCAACTGATGTGTCCTTCCACCTGGGCCCAGCCAGGCCACAGGCGCCGTCCTGCCCACCAGCACCCACTCCAACCTTCTCCGAGTGGGCACTGACCCTTTGCAGCCAGCCCACCTGCTCTGAGCTCCCTGACCCCCACTCCTGCCCCAGGTTTCTCCCTCAGATTGTCCCAGCACCCCTTGTGCCTGGCACCCCTGGATTCTCCACCCCCAAGAACCTAGAGTGACGAGGGGCAGCCACTTAAGTCAAGATCGCCAGCTCCCTGGCAGCGCCTTCAGCCCATACCCCCACCCCAGGCTCCCCAGCAGCACCTTGGGGTCCTTCTCATAGTAGTGCTGCTGCGTGCGGATCCAGCGCCCCACGAGGTGGTCGCGCACGGTATGGGCCAGAGCAAAGTAGTAGTCTCGTGGGGTGGCCACATTGCGGTCCTTTACGAGTGTGAAATGCAGGTGCCGGTTGAAGTTCTTTTTCAGCTCAGTCACGTTCTCCACGCCGGCCAGGCCACGCACACTGATTTGCTTTCTTTTCTCTTGGTCTGACAGGGGCCGGGACAGGGCTGCAGGAGGGCGGGCCGGACTGGACTGATGGTAGAGGGGACGGCGGCCTCAGCACTGCCTCCAGCCAAGGAGTGGAGCTCCCCAGCCTCAAGGGGATTTAAAGCCTGGCTCTGGGCAGCACGCCCCGCCTCCCCTGCAATGGGAGGGTCTTGGCCTGGCAGCTCAGGGAGCTATTTTGAGGGCAAGGGGAGGAGAGGAGAGGGGAGGGAGAGGTGAGCTCCACTTGGGCCGCCAAGACTGGCCTGGCTTGTTCACAGGCCTGTGCTGACCCACTTCCTCCAGGCCTTGCACATGGTCTTCTGTCCCTTGTCCCTGCCTTTTGGAGGGTTGGATACAAGAAGGAGCAGGCAGAGTGCTGGATTGGGGAGCTGTCTGTCAGTGGCTGAACCAGGATGGGAGGCCATGTGTTGTGGCAAAAGGAACCAGGACCCCCTGCAGGCTGTGGTGCAGGAGCCAAGTCAGTGTCCCCTGACGGAAGAGGTGCAACTAGCAGAGGCCACTGGATGTCTTTGAGAAAGGGGCCCACGACCCTGCATTGCAGGGGTGGTGTGAGGGAGGTTGTGTGAGGCAGGGCCACAGCCCTCACTCCACCCCCACCGAAGCTGAGCAGCTCTAGGCTCCCCCTGTTGCTGTCCCTCAAGGAGCCCTGAAGTGACCTTTTGGAGAGGGATGCTCAGGTTACTGGCCAGCATTGGCGGGAGGCCGCTAGCCTGCAGCACGGGGCCCTGGGAACTGTAGTCCTATAGGCCCTCGGCGGTGGGAGAAACTGAGGCATTCCCCACTCCATCATCATACTGGTTTAATGACAGTAAGTTCTCCCTGTGATTCCACTGCTTAGGAAGTGATTAGAGGCCTTCTTTCACTTCTTCCTGCCACCTGGGGCCACACTCTGAGCAGGATTTTGTAAACCAGCTCTGTGACCTGGCCTATAAAATGGGTGCCTAATCTGTACCTCGAGGACCTCACCCCATTTGTGTGCATAGCCCCACAGCTTTGAGCCCTTCCCTGGAGGCTTTGGCTATCCTCCCATTCACTGCTGTGTTCTGGCCCCAGCACTGACTTGCTGTGTGACCTCAAGCTGGTTGCTTTACCTTTCTGAGCTTTGGATTCCTTCACCAAATTTAGACTCTCCAATGAGAAAAAAAAAAATCCCTGCCTCTCAGCTGCTGCCTCCTCATCTTGTGAGGGCAGGCTTCGGATCCTGCTGTTCTTTAAGAGAAAGGAACCAGGACCTTGTGCTAGTTCAAAGGCTGTTTGGGCCTCCCGGGTGGTGGGCCGGTGGAGGGGAAGAGCTGGGTGTTCTGTTCTGAAGGCCAAGGAAGCAGGTCAAAAGCCTGGACAGCTGCAGGATACTATTGAGAGCCTGGTTCGGAGAAAGCCAAGCTGTTTCTGAGAACTTTTTTTTTTTTTTTTTTGAGGTAGAGTTTCATTCTTGTCGCCCAGGCTAGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGCTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACCAGGCTGGTCTGGAACTCCTGACCTGAGGTGATCCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTCCGATCACTTTCTGAGCCATGGCAGACCCAGCCCTGGAATCACCGGCTTAGTATGTGGGCCAAACTTCAAGTCCTACAGAGGTCTCCAGGCTCCCAAGCCCTGCTCTACCCCTGCCCCCAAAAGGCACGGGCACACTGTCTTCTGTGGTGCCTGCCACATTTCCAAGTAGAGAAAAAAGATCGGGAAAAAAACACCAAAATACACCTCCACAGACACGGGGATGCAAACAACTTTTCCTTACATTTTTCTGTTAATTTCCAATTTCTCTTAAGAAGTGTTTCATAAACCATTAAAAAACAATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGA
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Task1_train_16026
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A genomic change on Chromosome 11 affects MEN1 (menin 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Adrenocortical adenoma
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GATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGC
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GATCCACAAGCGGTCATTCCTAGGGACAAAGAGCTGGGGTGGGCACAAAGCAGGTCACATGGGGGCTGCCTGGGGCCAGGAGGATAAGGCAGCCTCACCTGAGGTAGCTGCCAATGTAGGCCACCACATTGGGGTGGCGGCACTCACGCAGGATGGTGATTTCCTGCTGGAGGGAGCTGATGTCGTCCCCTGGGAAGCACAAAGCATCATGGGGAAGGCGCGCTGGGGTTGCCCTGACTCAGTGCCCCCATCTGCAAAATGGGCACAGAGTGCCTCCCTCCGGGCCAGGCAGGTGCAGGTGACAGCACCTCCCGGGGCACGCCTCTCAGGGGTCTCGGAAACGTCAACCCTCCGCCCGCACCCCGCGCCCGCGGGCGCTCTGCCCTTCCTCTGGCGCAGAGGCCCGACCCGGGCCCTCACCTGGGTCTAGCTTGACTATCTTCACGGCGGCCAGTTCGGACGTGACCGTGTCGCGGGCCTGCAGGGGCGGAGGGTGAAGCGGGATGGGGGGCGGGGCCGGGGGCTAGATCCTGCCGCGGGGTGCGGGGCTGGCACCCTCCTCCCGGCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGAGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGC
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Task1_train_16027
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The gene MEN1 (menin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Multiple endocrine neoplasia, type 1
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCGGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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Task1_train_16028
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Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCGGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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Task1_train_16029
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Consider a variant on Chromosome 11 in gene MEN1 (menin 1). Determine its clinical classification and disease relevance.
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Pathogenic; Hereditary cancer-predisposing syndrome
|
GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCTGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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Task1_train_16030
|
This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Multiple endocrine neoplasia, type 1
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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GCTCTCCCGCCCGTCCCGTCGCACCTTGTAGACGTCGCCATAGGTCCCGGCCCCCACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCTGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGC
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Task1_train_16031
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A variant on Chromosome 11 in gene MEN1 (menin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTAGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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Task1_train_16032
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This genomic variant is located on Chromosome 11, within the MEN1 (menin 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Multiple endocrine neoplasia, type 1
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTGGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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Task1_train_16033
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This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTGGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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Task1_train_16034
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A variant affecting Chromosome 11, within the gene MEN1 (menin 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Multiple endocrine neoplasia, type 1
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTTGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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Task1_train_16035
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The gene MEN1 (menin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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CACGCGCTGCAGCAGCTCGAAGCGGTCCCGCGGGTCCTGCAGCGACACATCCCGCAGCAGCGCCATGGCCCGGCGCCGGGCGGGCCGGCAGGCGGGCGGGCGCGAGCTGCGGAGCCGGCGCGGGGCGGCGCGGGGCGGGGCGGGCGCCCGTGGCTCTGAGGCCGCGGGGGCGGGGCTGAGGCCCGGGGGCGGGGCCGCGCCGGGGATGCCCCACCGCCAGTCCGGGAGGAGGCGCCCGCGGGACGGGCCCTCGGCGGCGCGGGGAAGCCCCAAGGCCGGGGCGGAGCCTACGTCCTTCCGCCGCCACTGTCGCTCGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGGGCGCTCCACTCCCCGCCCCATCCCCAATTTCCCAGATAAACATGGACTTGCGCTTTATATTTTTTTTAACAAAATGTATTCATCTTTCTTGGAACTGAAAAATAAATCTATGTACAAAACAGGAAGAGATCAGGCTCTTGTCACCCACTCCTAACCCTCTGCAGATTTCCTCCGGGATGCTCCGAGATGGGCTGGACCTCTGGGAGGTTCCCAGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTTGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACC
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Task1_train_16036
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A change on Chromosome 11 affects gene MEN1 (menin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCT
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AGAGGGTCGGAAGGGAGGTCCTGCTCTGATCCGGGGCCAGTTTCGTCAGGAAGAGGGCGGGGCTCAGGATGCTCATAGGCTGGGGGCGGAGTTTTGTGTCCCAGACTCGGGATACGAAGGAGAGGAAACTAGGATTTCCAAATTCTGGAGCAGGACTGAAGTTATTTGGGGCAGGGAGCTTGGATTCGCAAGATATGGAATTCTGAAGTGCGGAAATATACTCCTAGGGGCTGAGTGGTCCTAGGCTCCCGGGCTGGAGGTGGGACCTGTGCTCCTTGGGTTAAGGGTGAAACCTCAGCTCCTACAAGCTGGGAGGAGCCCTGAGTAACGTTGGTCTGGCTCTAGGTGAGCGGTTCCGAGGAGGAGCTTGGGTTTCTAGGGGCTGGGCCTTTAAAGACTGGTAATTAGGACCCAGCGTGAGGTTTCCATTGGCCGGCTGGGATTCTGGGAGAAGAGACCTATATTCTAACGACTGGGGCAGAGCCCTGGGTTCTGAGCTGGAGAAAATCGTGGGTTTGATACAGACTGTACTCGGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGTCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCT
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Task1_train_16037
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This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Multiple endocrine neoplasia, type 1
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GGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTC
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GGGACCGGGAACCTAGGGTTTGGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCCTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTC
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Task1_train_16038
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An alteration has been detected in MEN1 (menin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGAT
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GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGTCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGAT
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Task1_train_16039
|
This variant lies on Chromosome 11 and affects the gene MEN1 (menin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Multiple endocrine neoplasia, type 1
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GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGAT
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GGGTAGAGGTGAGGCCTGTCCCCTTTGGGCTGGGGGCAGAACATGGGCTCAGAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGTCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGAT
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Task1_train_16040
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The gene MEN1 (menin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Multiple endocrine neoplasia, type 1
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GAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTC
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GAGTTGGGGGACTAAGGGCGGAGCCTGGGTCCCCACAAGCGGTCCGAAGTCCCCAGTAGTTCAGAGGCCTTTGCGCTGCCGCTTGAGGAAAGACAGAGTGTAGTCACTAGGGGTGGACACTTTCTGCTTCTTCATCTGCACTTGCGACTGTGCCGTGAGTTGCAGCTTGATGGCGCTCGAGTTGATCTTGGTGGCCACCAGCAGCTCCTTCATGCCCTTCATCTTCTCACTCTGGAAAGTGAGCACTGGACCCTCCGGCGGTGGTGATGCTGTGGGTGCTGGCACCTGAGCCGTGCTGCCACCTTCAGGGCCTCGGGCTGTGCCAGCGACAGTCCCAGGAGGCTTCCGGGGGGGTCCTGACACTGCACCCTGGCCGGTGCCCAGGCCCTTGTCCAGTGCTGGCTTCTTGGGCGGCGGGGGCTCCTCTGGCTTGGACTCCCGCCGTGGGCCCCGCCGCCGGCCTTCCCGGGCTTCCTCGCCCCACGGCTCCTCGGCCTCGGCCGCCTCGGCCTCTCGGCTCACTATGCGCACCTTCTGCCGCACCTGGGCCAGTGGGGAGAGCAAGGTGAGAGCAAGGTTGCCGGCCAGTGGCTGGAACTCCAGGACCCTGCTCTGGCCATCCCATCCCACCCAGGGGGTCTCAGTCCCATCGGCACCCAAGGGGATGGGCAGATGCTGCCCCTGGGCCAGAAAAGTCTGACAAGCCCGTGGCTGCTGTCACCACCTGTAGTGCCCAGACCTCTGTGCAGCTGTCCCTCACCTGTCCCTCAAAACGGCCTAGGGACTGCACAAGAAAGGTGGCCCAGCCCACATGCAGCACAGGCGTGGGACTGCCCTCCTCCCATTTGCAGATGCCGTCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGCGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTC
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Task1_train_16041
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A genomic change on Chromosome 11 affects MEN1 (menin 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACT
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TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACTTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACT
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Task1_train_16042
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A variant was discovered in gene MEN1 (menin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Multiple endocrine neoplasia, type 1
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TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACT
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TCGTAGAATCGCAGCAGGTGGGCGAAGCACTCAGGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACTTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACT
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Task1_train_16043
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This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Multiple endocrine neoplasia, type 1
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GGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTG
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GGGTCCTGGAGGGCGGAACCTTGGCTCTGGGTGCCCTGGACGAGGGGGAAGGGAGGGCACAGATCAGTCTCTTACTCACCCCTTAGCAGAGGGCACAGGCCAGGCCCCCCACCTAGGCAAAGACCCCTGGCTCCAGAAAAGGTAAGCATAGGTTGGGAACATTCTTAGAACCTCTTTCCTTTTATAAAGCCAATCCATAGCCAGGACGTACCATCCCTACCTCCACCCCTCAGCTGAGGGAGGGAGTCTGGCCATGAAACTGAAGGCACAGGGTAGAAACCTCTAAAATACCTTCAGTCCCGTCCAACGTGGGCCCAGGACCTCAGTTATAGCAAAAGGGAACATAGCTGTCTGCTCAGGGCCACCTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGGGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTG
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Task1_train_16044
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Consider a variant on Chromosome 11 in gene MEN1 (menin 1). Determine its clinical classification and disease relevance.
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Pathogenic; Multiple endocrine neoplasia, type 1
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CTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGA
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CTTCCTCCTGCCATCCCTAATCCCGTACATGCAGCCCCCATGGCCTGTGGAAGGGAGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCCAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGA
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Task1_train_16045
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The gene MEN1 (menin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGA
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AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTTCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGA
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Task1_train_16046
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This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGA
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AGCCCTGTCCAGGTGGGAGGCTGGACACAGGCTGGAGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTTCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGA
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Task1_train_16047
|
This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary cancer-predisposing syndrome
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AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAG
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AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCGGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAG
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Task1_train_16048
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This alteration in MEN1 (menin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAG
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AGCTCCAGCCTTTCACCTGGCTTTGCTCCCCCGGCCGCTCCTCGCCCGCCTCCAGCAAGCTGGCTGCCTCCTTCAGCAGGTTGGGGATGACATCATTGGCTACTTCAAAGAACTCCTTGTAGATCTCCTCGTCTTCCCGGCAGTAGTTGTAGCTGTGAGAGCAGTGGGGTCTCTGTAGGGTCTGAAGGGGTCTCACCATCGGGGGTAGCCCCAGGGACCTGGCGGGGGATGGAGCCCCCAGGGGCTGGGGGAGTAGGTGGGGTCCTCACTGCAAAATGATGCTGTCTGGGTCAGCCCAGAGGAAGAAAGCAAGAATGAGGAGGGGGGCATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCGGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAG
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Task1_train_16049
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A variant has been detected on Chromosome 11 in MEN1 (menin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Multiple endocrine neoplasia, type 1
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CATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCA
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CATGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTTCCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCA
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Task1_train_16050
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Given this variant in gene MEN1 (menin 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Multiple endocrine neoplasia, type 1
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TGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAA
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TGGGGCCGAGGGTGGAAGTCCCACTGCTGGATGATGGTGGTTAAACATTGGAGATTTGAGACTGTTCTGAGAAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACGCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAA
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Task1_train_16051
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Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Multiple endocrine neoplasia, type 1
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AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGG
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AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGGAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGG
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Task1_train_16052
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A genetic alteration is present in MEN1 (menin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGG
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AAAAAAAAAATTAGGAGGAGAGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGGAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGG
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Task1_train_16053
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A variant was discovered on Chromosome 11, affecting MEN1 (menin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCT
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AGGGGAGGGAGGGAAAGATGTGACACCTTAATCAGGGTCCCTACCTCCTGGGTAATGGTGGCCTTGCTGCCTAGGGACTGGATGGAAAGGGGATGGGGCGTGGGAGCCAGGCCTCAGTCCTGGACGAGGGTGGTTGGAAACTGATGGAGGGGAAGAAAGGACAGGCTGCAGGCCCTAGTAGGGGGATCCTCACTCCTGGATGACAGTGGCCGTGTCCGCCCAGGCCTGCAGGGCTTCCCGCACATTGCGGTTGCGACAGTGGTAGCCAGCCAGGTACATGTAGGGGTAGATGTGTTCATCCCGATAGTAGGTCTTGGCTGAGGCAATGCCCTGGATGGAGGTGAGGCAGAGGATCCTCAGGGAGGCAGCCCCAGCTGCCCTGCTGGCACAAATGCCCCACCAGGGCACACCCAGAAGGGGCCACAGGAAGATCCCAGGGAGTCCTCTCCATCTCCACTCCCACCTCCACTCGCTGCCAGCCCTTCTACCTGGTCTCCTCCCTGGGTCTACAGGACTGCTGGCTGAGGCCTGGGGCAGACTGCAGGGGTGGGGCCTGCCCTCCGAGCTCAGGGCCCTTCTCTTTCTCAGACACTCTTCTACACATCACCAAAGACTTTCAAGCCCAGCCCAATGGCCCTCCTCCCCACCTACACCCACCAAGTGAACACCCCCTCTTCATCAGTGCTCCTGCCACATTTGACCTCTGTTATACTCCAGGAAGGACAGTAAGCAGTGGCAGAAAAGGCAGGGCTGAGGGGACAAATGCAGCCCCTGCCACTCCCAGGCTGGGGAACCCTGGACACCCCTCAGACAGCCCTGACTGAACTGATTCTGCACACAGTTGACACAAAGTGAGACTGGATGGGCGATACCCCCCAACACACAAAGTTCTCTTCTCATCTGCCCAGATGAGGGCCCCTGCCTCAGCCACTGTTAGGGTCTCCCTTCTGCACCCTCCTTAGATGCCCCCACCTTGTGGTAGAGGGTGAGTGGGTCTGGCCGGCCAGGGGTGGGCTCCAGCTCCTCTAGATCTGCCAGGTTCCCTAAGGCCATGGGGTACCTAGGAAAGGATCATAATTCAGGCTGCCACCCAGCCCCCCGGCCTCACCAGGCGCAGCCTGGCCACTTCCCTCTACTGACCTTTCCAGATGTCCCAGGTCATAGAGCAGCCAGAGCAGCTTCTAGGAGCCGAAGGAGAGAGTTATGAGCCACGGAACAGGGAGGAGAACGGGTCCTTAGCCTATCGGGCAGAGGTGGGGGTCAGAACCAACAGGGACCACCCACCATGTGGAAGGGCCAAAATTCTGGGACCAGCCCTTTAATGGAGTCAAAGCAATTTCACATCTCAATTCTACTCTCCCAAGAGCCCTGGGAAAGGCCAGGCCAGGAATTACTAACCCATTTTTCCAGGAGGGGAAGCTGAAGCTCAGGAAGGGAAAGTGCCCCTGCCCAGGGTCCCACAGCAAGTCAAGTCTGGCCTAGCCCAGTCCTGCCCCATTGGCTCAGCCCTCACCTGCTGCAGCTGCAGAAGCTCCAGCGAGTCGGTGTGCAGGTCAATGGAAGGGTTGATGGCACACACCATGAACGCCACCTCCATCTTGCGGTCACAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGACCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCT
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Task1_train_16054
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This variant impacts the gene MEN1 (menin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGA
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CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGCGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGA
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Task1_train_16055
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A genetic alteration is present in MEN1 (menin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Multiple endocrine neoplasia, type 1
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CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGA
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CAGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGCGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGA
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Task1_train_16056
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This variant affects gene MEN1 (menin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTAGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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Task1_train_16057
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This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Hereditary cancer-predisposing syndrome
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTCGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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Task1_train_16058
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This variant impacts the gene MEN1 (menin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Multiple endocrine neoplasia, type 1
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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AGCGCATGTATGATCCTTTCAGGTACAGCCAGCTCTTAGGGGGGGATGAGATCATTATGTCTCATGATGGCCCACCCTGTGCCTGCTTCAGGGAATGACAGCCAGGAAAAGGGGCTCTTCTGTCTTCCCTTCCTATGTGGGTGGTGATGGGAAGAAAGGGGTGTGGCCCAAGAAAATGGAGTCCCTTGGGTGGCTTGGGCTACTACAGTATGAAGGGGACAAGGCTGGGGGGAGGGAACAATACCCGCTCAGCCACACCGGCATTGACTGTCTGGCCCCTGCGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTCGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAG
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Task1_train_16059
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This alteration occurs within gene MEN1 (menin 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG
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CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCCCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG
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Task1_train_16060
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This gene mutation involves MEN1 (menin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Multiple endocrine neoplasia, type 1
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CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG
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CGGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCCCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG
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Task1_train_16061
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The gene MEN1 (menin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Multiple endocrine neoplasia, type 1
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GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTGCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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Task1_train_16062
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This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTTCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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Task1_train_16063
|
Mutation context: Chromosome 11, Gene MEN1 (menin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Multiple endocrine neoplasia, type 1
|
GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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GGTCCTCGTTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTTCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC
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Task1_train_16064
|
This sequence variant lies in MEN1 (menin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Multiple endocrine neoplasia, type 1
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TTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCA
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TTGCCCTTGCCGTGCCAGGTGACCTCAGCTGTCTGCTCCCCATTGGGCCCAAACACTACCCAGGCATGATCCTCAGACAGGGCGAGGTGGACATCCCGGAGACCCAGGGCCTGGCAGGCCCCAACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGGCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCA
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Task1_train_16065
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Here is a genetic alteration in MEN1 (menin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hereditary cancer-predisposing syndrome
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCCTGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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Task1_train_16066
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Gene MEN1 (menin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hereditary cancer-predisposing syndrome
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCGTGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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Task1_train_16067
|
Gene MEN1 (menin 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Multiple endocrine neoplasia, type 1
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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ACCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCTTGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATAT
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Task1_train_16068
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A mutation in MEN1 (menin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Multiple endocrine neoplasia, type 1
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCAAGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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Task1_train_16069
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This variant affects the gene MEN1 (menin 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCAAGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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Task1_train_16070
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A variant was discovered on Chromosome 11, affecting MEN1 (menin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Multiple endocrine neoplasia, type 1
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCAGGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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Task1_train_16071
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This is a variant in MEN1 (menin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Hereditary cancer-predisposing syndrome
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCATGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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CCACAGCAAAGGCCACACCGGAGCTGTCCAATTTGGTGCCTGTGGAAGGGGGAGGTAATGAAAGAGGGTCCTCTGTGCTTTAACATGGGGAAAGGGGGCCAGGTAGTGATGGGCCACACTCCCTCCCACTCCCTTTCCAAGCCTGTGACCCAACCTCAGATTCTCCTGCCCACTATCCCTCCATCCCTTCCCTCCCACGTGTTCAAAGACTCTCTCCCTGTTTACACCCTCTATGTCCAACAAGATACCTTTCTGGATATCCTGTAGCTGACCCAGCCTTTGGCCCTACCTCGTCTTTCTCTGCAACTCTATTATATATTCTATGGATTTAGGGATTCCATTTTACTGCACTTACTAGGTTAAAACAGGAATGGCAAAAACAGGACGCTGGCCAACACTCTCTGGCTATACACCCACCAACAAATAACCCTCATTTATCTCTGCACTCTTTTCCTGCTAAGCTGAGAAGCAGCCTCTGATTCCTTCTCAATATGGCACACCAGGATGGGATTGCCAGTCAACCGGGCTTGGTGCAAAGCTCTTTGCAAGCCCTGACTCTTAAGCCTTTTGAGGTCAAGCCCCTTCTCTGTCTCAAACATTTTTGACCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATCCAAAAAAAAATTAGCCAGGCATGGTGGCAGGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGCAGGAGAATGGCATGAAAGCAGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACGCCGTCTGAAAAAAAAAAAAAAATTTTCATAGGCCACCAGTTGCGGTGGCTCACACCTGTAATCCCAGCATTTGGGAGACTGAGGCGGGCAGATCACTTGAGCCCAAGAGTTCAAGACCAGTCTGGGCCACATAGTGAGACACCATCTCTACAAAAAAAATACAAAAAATTAACCAGCACCACGGTGCATGCCTGTACTCTCAGCTACTCAGGAGGCTGAGGTTGGAGGATCTCTGAGCCCAGGGAGACTGAGGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAATCTTCATAGCCATTATTTTGTTTAACTGCCTCAAATGCAGCCCAATTTCATCTTCTTGCCCCCTAAATCTGCTGCCGCCCTCTGTGTCTCATGCTTAGAACTCCTGTAGCTGTTCAGTGGCAAGGGTGGGGGTGCTGAGGGGGCAGAGGTGAGGTTGATGATTTGGAGCCAAGTGATCAGGCTTCACTTCCAGCCCTGCCATGCCGTGTGTGACTTTGGCATATCATTTCCCCTCTCTGGGCTTCAGTTTCCCAACTGCAAAGAGGAAAATAACACCTGCCGAACCTCACAAGGCTTACAGTTCTTAAAAGGGTTCTGTAAACCATGGAGGGTTTTGAAGAAGTGGGTCATGGATAAGATTCCCACCTACTGGGCTCCAACCTGTGATGAAGCTGAAGAGGGACTGGATGTGGGCCCGATCCTTGAAGTAGGAGCGGCTGAGGCTGTTCCATATGACATCGGAGACCTTCTTCACCAGCTCACGGCTGGAGACACCCCCTTCTCGAGGATAGAGGGACAGGTCGACGGCGCCTCGGATCTGGGCGGTGAAGCGGGCATAGAGGGCGGCGATGATAGACAGGTCGGCCACGGGAAAGTAGGTGAGGCCGCCAGGCGGGTCGGGGGCGGGGCTGGGCTGGAAGGTGAGCTCGGGAACGTTGGTAGGGATGACGCGGTTGACAGCCAGAAAATGCTCCACGAAGCCCAGCACCAAGGAAAGGAGCACCAGGTCCGGCTCCTCTCGGCCCAGCTCGGCAGCAAACAGGCGCACCACGTCGTCGATGGAGCGCAGCGGGAACAGCGTCTTCTGGGCGGCCTTCAGCCCCAGGGCGGCGGGCGGTGGGCGGCGGCCTGCAAGGCAAGCCGGGGGAGGGAGGGTCGGGCAGGTTCGGCCGGGGAGCCTCCTCCCAGGGTCCGCTAAGGTTCCACCCGCCCCGACACACGCACAGCTCCCCTGCTTCCCCACCCTCTTCAGCCTCTGCTCACCGGCTTCCCCTCTTTTGTCGGTGAGACCCCTCAGCCGAGACTGCAGAGCCTTTTTGTCCCCCACAATTCCGGGACGCCCGGTACCCGATGGGGTGCGCCCCAAGCACCCCAATGAGGAGCCCCAATGGCCGCCCCGCCCCCTCTCTACGACTGTGCCCCCGGGGCTGTAAAGTCTGTCCAGAAAGCGCACCCAGGTCAAGCCCCCAAACCCCAAGGAGAGTCCTGGCCTCGGTCCCCCTCGCCCACCTCCGCGCTTACATCCCACACTAGGCACCGCGGCGCACGCCGCCCGGAGCCTGCTGGGACATGAAGTCCCGCCCCTAGGGTCGCACTACCCGCCGGGAAGTGGAGTCTGGGCCCACCCCTGCCCCGCTGAGCCTGGAAATAGTGGCGGGCCGGGCCGCTGCGCTGTGGCTTCTGGGATCTCTAGGTCCGCGGCTCCGGACACCTCCTTCCCGAGATACTCAGGGATTGGCCCTTCCCTTCAGGCCGACCAGGCAGGAAGCGTGCCCGCAGTGCCTTCTGGAAAATGTAGTCCGGGGGCACTACCTGCAGACTCGGGGTGGGAGGTCGCCGAGCTTCTGCCGGTTTTGCTGTCACGGGTCGGTCGGCAAGTTATGAGGAAAAAGATCAGGTTGCTTGATCCAGAAAAAATTAAAATAAAACAATATGAGAAAAACAGATACTTTTAAACACTGCCAGAGAGTAAATGTGTTCAGCCGCTTTAGCTGGGTATCAGTGTCTGTTAACATATAAAGATGCCTACTCTGTGTGCAGCACTCGTTTCCCACTTCCGCCCGCGAGATACTCTAACACGTGCTAAGAGTAGCTTTTGTTTGTTTGTTTTGAGACACGGTCTTTCTCTTTCGCCCAGGCTGGAATGCAGTGGCTCGATCTGGGCTCACTGCAGCCTCGACTTCACGGGCTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGTGCGCCACCACTCCCGCCTAATTTTGTGTGTATGTGCATATACATAAATATATATACATATAACACACACACACACACACACACACACACATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCAGAGACAGGGATTCCCAGCTACTTGGGAGGCTGAGGCGCGGGGAATCCCTTGAACCTGGGAGGCGGAGGCTTCAGTGAGCCAGAATCTTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCTTAAAAAAAAGTCCCAAGTAGCTGGGATTATAGGCGTCCGCCACCACACCCAGAAAACTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACCCCTAACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTAAAATTACAGGCGTGAACCACCTTACCCGGCCAAAGAGTAGTTATTTGTTTATTTGTTTTGAGACAGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTGCCTCAGCTTCCCAAGTAGCCGGGATTACAGGTGCCTGCCACCACACTTGGCTAATTTTTGTATTTTACTTAGTAGAGACAGGGGTGTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCTCCTACCTCGGCCTCCAAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTGTATCAACAACGCTTTGAAACTTTGAAATAATACTAAATTTCCACGGTCACTCATTTATTTGCTTATTCATTCAAAAAAAACAGATTTTTGGTACTTACCATGGGCCAAGTTCCAGACACTCGGTATATA
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Task1_train_16072
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This sequence change occurs on Chromosome 11, altering ARL2, ARL2-SNX15, LOC130005983 (ARF like GTPase 2| ARL2-SNX15 readthrough (NMD candidate)| ATAC-STARR-seq lymphoblastoid silent region 3504). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
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TTGAAGTGAGCATGTCTGGCTAATTTTTGTATTTTTTATAGAGATGGGAGTCTCCCTAAGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTCACCTCTGCCTTCCAAAGTGCTGGGATTAGACATGAGCCACTGCGCCTGGCCCACTTCACTGTTTTAAGGGCTTCATGAATTCACATGCACCTACCCCGGCTCAGGTAACCTGCCCTCACTGGAGGCACTTAGGTTTTTTCCAATTTCTTGCTGTTCCAAACCATGCCACAGTGAACTTCGTTGTTCCTGTGCAGTGCCAGAATGTCTGTGGTGCAGGCTCCTAGAAGCAGGATGGCAGGCTCCTACCTCTAGACATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGCCGCCACCACGCCCAGCTAATTTTTTGTATTCTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCATGGCGCCCGGCCAGCATTTCCCATTTTGATCTTAGCTGCATTTCGAAGCCTCTGGGTAGGCGATATGCTCACTTTCTTCCTTGTGTGTGTGTGATGGAGGGTAAATGGTGCTGACCGAAGGGTCCCACTCAGGCAGCCTATCTGTTCAGCCCTCCTCTGACCACAAGCCCCTTTCTGCAAGATGGGAAGCTCCAGCTTCTTCCAGACCTCTCTCTAGGCAAACTTCATGGAGGCATGAAGACATTGTGCTTTACCATTTACTAGACCTGAGTTTGAATCTCACCCATGCTCCTTAAACACTCTGGATTCCATTATCATAGCTACGAAAAGAATATAAACCTCTCAGGGTTGCAGGGAGGATGAAGCTGAACACGTGAAGTGCGTTGCAAACAGTTACACAGGAGTTAGCTATTGTCCTCAGCTGGTGCTGACAGCTCTTTCCCAAGCATGAGAGAGGCTCTTCCGTGCTGCCTATCCACACTTACCTGCAGCAATAAGGCTGTCTCCTGAGTTTACAAAAGGGCTTGGTCCTTGACCTATTTCCTCACTTCTTCTGGACTTCTTGAGCGCTAAAGTAAAGAATGAAACTCTTGGACAAAGCCATTCATTCAACAACAAATATTTATTGAGCACCTACTACATGCCAGCCACTGTGCTAAGCACCATCTGGGCCTCAGTTTTTCCATCTGCAAAAGTAGGAACTGTGCTTCTGAACAGGGAAACGCTGGGCCTCTGGGTGGGGGCAGCCTTTGGGGCGGGACTGCAATTCCGTCATTGGAACCCAGGGACGCCCCGCATGTTTCCGAACGGCCTCCAGGGGGCACCGCCGCCCTGAACTGAGAGCCACCGGAGCCGGGTAGGGGGAGGCCCAACTTTCCGCTCTGTCAGAGGATGATGCCGAGGGCCCAGATGAGCAGGATTTGGACTGTGTTGCTGGGAACGGGGGCCTACACTGGCCCCAGGATGAGTTCGTCCGTACCTGGGGGCCCTGGGTTCTGACTCTCAGGTCAGACGCAGCCAAGATGCAACTCAGGAACTTCAAGGTTTCCGCTCCGGCCAAGAGCCCCAGTCCGGCAGGGGAAAGGGTGGGGGAGTCGCCCTTGCTCCCCCAGCCTCAGCCCTCGGGAGGCGCAGCGTCAGGGCGGGCGGCAGCACAGAAACCCCCCGCGCCGCTAGAGGGACCCTCGCAGCAGCTGCGCGGGCGACCTCGCGGTCACGTGCGGCAAGGGCGGGACCAAACGAGCGTCCGGCCAATCGACTATGCCGTCGGCGAGCGTGATAGCCAACAGGAACCGGGAGCGGGGTCCCGGGACTGGGAAGAAACGGCGGCCGGGAGGGGGCTCCGGGGACCATGGGGCTCCTGACCATTCTGAAGAAGATGAAGCAGAAAGAGCGGGAGCTGCGACTGCTCATGCTGTATCCTACCGGACGCCGGAACCGCGAGGGTGGCGGGGTCCAGCCGGGCAGGCGGTGCCGGGCGCCCCCTGTCGGGAGCGGAACGCGGCGGCCGGCGCGTCCCAACTGCCCCTGGCGTCACCACGCGGGCCCCATCAATCGCCCCGTCGGGCCGGGAGGAGCCGCACCCCAGGACTGGGGCAGGGGCCAGCTCCGAGGGCCGCAGAAGCGGTCCTGCAGGCGCAGCGGCGGGGCTAGGCGGCCCGAGTGTCAGGGGTGGTGGGTCCCGGAGATAACTCGGACGCCACCACCCGGCGGCCTGGCCCAAGCGTGGGGCCGCTGCCCTCCCGGCTCTGATCTCCTCCCCCGGGCCCGAGGGTTCCAGGCCCCGGCCCCGCCCTCGAGCTCCGAATCCCGGGGGCGTGCGGGGTGGCGGGTGGCGCGTGTGGGCTCCGCGGATCCTTTCGAGCGTGGATCCAACAGTCCGTCTCTTTGGTGTTACGCGGCCCGTGGTTGTCCCTGCGGCTGAGGATGTGTGTGTGTGGGCCCGAGTGTCCCGTGCGCCCTGTGCGCCTTCTGAGTCCAGTTAGGCGCCCGCACCTGTTCCCCCAGCTCTGTGCCAGGCTCCGCGGGGGAATGGCTGGGGAGATAAGACGCTTACGTGCACATATAACTTAATAATCACATCATGACTGTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACAATCAAGGCTCACCGCAGCCTCCAGCTTCTAGGCTTAAGTGATCCTCCTGCCTCAGCCTCCCAAAACTCTGGGAATATAGGCATGAGCCACGGAGTCCGGCCCATGTCTGTTTTATTTTGTTTTGTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGCCCCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTATTTTTTTAAATATTGTTAGTAGAGACGGGGTTTCACCTTGTTGGTCAGGCTGTTCTCGAATTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAACTGTTGGGATTATGGGCGTGAGCCACTGCGCCGGGCCGCATGTCTGCTTTAAAGAGCTCTAAGAAAAGCATACAGTTCACTCATTTGATAAATATTGAGTGCCTAATATGTGCTAGACACTGTCCTAGTGCCCAGGGTAATAAAACTAAAAAATCTTACCTTCATGGAAATTCTGTAATGCGTGTGTGTGTGTGTGGCGGGGGGGTTGCCCGCGGGTAGAAAGATGATAACACAGGAAGTAAGTAAAATATGTAATAGAGGCTGGGTGCGGTGGCACACACCTGTAACCCTAGCACTTTGGGAGGCTGAGGTGGGAGGTTCGCTTGAGCCCAGGTGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTATTTATACATATATATATTCTCCATACATACTATATATATATGGGCCATGCTTTGGACCATGCTTCTGGGGAACAGGGCCTTATACTGCTCCAGGATGAACTCCCACTACGTATATAGGTATGGAGAATAATGCAATTTAGGGTGGTCAAAGAAGGCCACTGTATGATGGCAGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGGGGCGGATGGATCGCCTGATGTCAGGAGTTTTGAGACCAGTCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAATACAAAAATTAGCTGGATGTGGTGGTGGACACCTTTAATCCCAGCTACCTGGGAGGCTGAGGCAAGAGAATTGCCAGAACCCGGGAGGCGGAGACTGCAGTGAGCTGAGATCACGCCATTGCAGTCCAGCCTGGGTGACAAGAGCGAAACTCTGTTAAAAAAAAAAAAAATGACAATTGAGTACATGAGGGAGGCGAGGGTTGAACCATATAGCAATTCGGGGGGGGGGGAAACTTTAAAGCAAAGGGA
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TTGAAGTGAGCATGTCTGGCTAATTTTTGTATTTTTTATAGAGATGGGAGTCTCCCTAAGTTGGCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCACTCACCTCTGCCTTCCAAAGTGCTGGGATTAGACATGAGCCACTGCGCCTGGCCCACTTCACTGTTTTAAGGGCTTCATGAATTCACATGCACCTACCCCGGCTCAGGTAACCTGCCCTCACTGGAGGCACTTAGGTTTTTTCCAATTTCTTGCTGTTCCAAACCATGCCACAGTGAACTTCGTTGTTCCTGTGCAGTGCCAGAATGTCTGTGGTGCAGGCTCCTAGAAGCAGGATGGCAGGCTCCTACCTCTAGACATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGGTGCCGCCACCACGCCCAGCTAATTTTTTGTATTCTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCATGGCGCCCGGCCAGCATTTCCCATTTTGATCTTAGCTGCATTTCGAAGCCTCTGGGTAGGCGATATGCTCACTTTCTTCCTTGTGTGTGTGTGATGGAGGGTAAATGGTGCTGACCGAAGGGTCCCACTCAGGCAGCCTATCTGTTCAGCCCTCCTCTGACCACAAGCCCCTTTCTGCAAGATGGGAAGCTCCAGCTTCTTCCAGACCTCTCTCTAGGCAAACTTCATGGAGGCATGAAGACATTGTGCTTTACCATTTACTAGACCTGAGTTTGAATCTCACCCATGCTCCTTAAACACTCTGGATTCCATTATCATAGCTACGAAAAGAATATAAACCTCTCAGGGTTGCAGGGAGGATGAAGCTGAACACGTGAAGTGCGTTGCAAACAGTTACACAGGAGTTAGCTATTGTCCTCAGCTGGTGCTGACAGCTCTTTCCCAAGCATGAGAGAGGCTCTTCCGTGCTGCCTATCCACACTTACCTGCAGCAATAAGGCTGTCTCCTGAGTTTACAAAAGGGCTTGGTCCTTGACCTATTTCCTCACTTCTTCTGGACTTCTTGAGCGCTAAAGTAAAGAATGAAACTCTTGGACAAAGCCATTCATTCAACAACAAATATTTATTGAGCACCTACTACATGCCAGCCACTGTGCTAAGCACCATCTGGGCCTCAGTTTTTCCATCTGCAAAAGTAGGAACTGTGCTTCTGAACAGGGAAACGCTGGGCCTCTGGGTGGGGGCAGCCTTTGGGGCGGGACTGCAATTCCGTCATTGGAACCCAGGGACGCCCCGCATGTTTCCGAACGGCCTCCAGGGGGCACCGCCGCCCTGAACTGAGAGCCACCGGAGCCGGGTAGGGGGAGGCCCAACTTTCCGCTCTGTCAGAGGATGATGCCGAGGGCCCAGATGAGCAGGATTTGGACTGTGTTGCTGGGAACGGGGGCCTACACTGGCCCCAGGATGAGTTCGTCCGTACCTGGGGGCCCTGGGTTCTGACTCTCAGGTCAGACGCAGCCAAGATGCAACTCAGGAACTTCAAGGTTTCCGCTCCGGCCAAGAGCCCCAGTCCGGCAGGGGAAAGGGTGGGGGAGTCGCCCTTGCTCCCCCAGCCTCAGCCCTCGGGAGGCGCAGCGTCAGGGCGGGCGGCAGCACAGAAACCCCCCGCGCCGCTAGAGGGACCCTCGCAGCAGCTGCGCGGGCGACCTCGCGGTCACGTGCGGCAAGGGCGGGACCAAACGAGCGTCCGGCCAATCGACTATGCCGTCGGCGAGCGTGATAGCCAACAGGAACCGGGAGCGGGGTCCCGGGACTGGGAAGAAACGGCGGCCGGGAGGGGGCTCCGGGGACCATGGGGCTCCTGACCATTCTGAAGAAGATGAAGCAGAAAGAGCTGGAGCTGCGACTGCTCATGCTGTATCCTACCGGACGCCGGAACCGCGAGGGTGGCGGGGTCCAGCCGGGCAGGCGGTGCCGGGCGCCCCCTGTCGGGAGCGGAACGCGGCGGCCGGCGCGTCCCAACTGCCCCTGGCGTCACCACGCGGGCCCCATCAATCGCCCCGTCGGGCCGGGAGGAGCCGCACCCCAGGACTGGGGCAGGGGCCAGCTCCGAGGGCCGCAGAAGCGGTCCTGCAGGCGCAGCGGCGGGGCTAGGCGGCCCGAGTGTCAGGGGTGGTGGGTCCCGGAGATAACTCGGACGCCACCACCCGGCGGCCTGGCCCAAGCGTGGGGCCGCTGCCCTCCCGGCTCTGATCTCCTCCCCCGGGCCCGAGGGTTCCAGGCCCCGGCCCCGCCCTCGAGCTCCGAATCCCGGGGGCGTGCGGGGTGGCGGGTGGCGCGTGTGGGCTCCGCGGATCCTTTCGAGCGTGGATCCAACAGTCCGTCTCTTTGGTGTTACGCGGCCCGTGGTTGTCCCTGCGGCTGAGGATGTGTGTGTGTGGGCCCGAGTGTCCCGTGCGCCCTGTGCGCCTTCTGAGTCCAGTTAGGCGCCCGCACCTGTTCCCCCAGCTCTGTGCCAGGCTCCGCGGGGGAATGGCTGGGGAGATAAGACGCTTACGTGCACATATAACTTAATAATCACATCATGACTGTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACAATCAAGGCTCACCGCAGCCTCCAGCTTCTAGGCTTAAGTGATCCTCCTGCCTCAGCCTCCCAAAACTCTGGGAATATAGGCATGAGCCACGGAGTCCGGCCCATGTCTGTTTTATTTTGTTTTGTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGCCCCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTATTTTTTTAAATATTGTTAGTAGAGACGGGGTTTCACCTTGTTGGTCAGGCTGTTCTCGAATTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAACTGTTGGGATTATGGGCGTGAGCCACTGCGCCGGGCCGCATGTCTGCTTTAAAGAGCTCTAAGAAAAGCATACAGTTCACTCATTTGATAAATATTGAGTGCCTAATATGTGCTAGACACTGTCCTAGTGCCCAGGGTAATAAAACTAAAAAATCTTACCTTCATGGAAATTCTGTAATGCGTGTGTGTGTGTGTGGCGGGGGGGTTGCCCGCGGGTAGAAAGATGATAACACAGGAAGTAAGTAAAATATGTAATAGAGGCTGGGTGCGGTGGCACACACCTGTAACCCTAGCACTTTGGGAGGCTGAGGTGGGAGGTTCGCTTGAGCCCAGGTGTTTGAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTATTTATACATATATATATTCTCCATACATACTATATATATATGGGCCATGCTTTGGACCATGCTTCTGGGGAACAGGGCCTTATACTGCTCCAGGATGAACTCCCACTACGTATATAGGTATGGAGAATAATGCAATTTAGGGTGGTCAAAGAAGGCCACTGTATGATGGCAGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGAAAGGCCGGGGCGGATGGATCGCCTGATGTCAGGAGTTTTGAGACCAGTCTGGCCAACATGGTGAAATCCCGTCTCTACTGAAAATACAAAAATTAGCTGGATGTGGTGGTGGACACCTTTAATCCCAGCTACCTGGGAGGCTGAGGCAAGAGAATTGCCAGAACCCGGGAGGCGGAGACTGCAGTGAGCTGAGATCACGCCATTGCAGTCCAGCCTGGGTGACAAGAGCGAAACTCTGTTAAAAAAAAAAAAAATGACAATTGAGTACATGAGGGAGGCGAGGGTTGAACCATATAGCAATTCGGGGGGGGGGGAAACTTTAAAGCAAAGGGA
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Task1_train_16073
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This alteration occurs within gene VPS51 (VPS51 subunit of GARP complex) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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GAGCAGTTGAGGCACAGTGGTGGCAGCTGGCTAAGCACCTGCGGCCTGCTTCGGATCTGGACTAATTCTGAGGGCCGGCTCTCCTGGGCACCAGGGTTAGGGGGTTACGGGGAGTATGTGAGTAACGCCTGCTTTGGGAACATAAACCCCCTCCCCCGCCCCCATGTGCGCTGTGACCCACGCCCTCGCAGTCCTTTCTCTGGAATCATCCATGCGCCCCTGGAGCAAGCTGGGGCGTCTGTGAAGGGGTGGGTGAGAAGGAGCTGAGGTTGCGCCCGCCCTGCAGTCACCTGCTCTCCCCTTTTCCCCGCCCCTGCCCTCCTAGACACCATCCGGAAGATGAAGAACGATTTCCGGAAGATGGAGGATGAGATGGACCGGCTGGCCACCAACATGGCAGTGATCACCGACTTCAGCGCTCGCATCAGCGCCACGCTGCAGGACCGCCACGAGCGCATCACCAAGCTGGCAGGTGGGCGCTGCCGGGCAGGGCCTGCAGTGGGCCTTTCCTGGGGCTCTGGGGCTAACGTCACCCTCCGTCCCCCAGGGGTCCACGCGCTGCTGCGGAAGCTGCAGTTCCTCTTTGAGCTGCCCTCGCGCCTCACCAAGTGCGTGGAACTGGGCGCCTATGGGCAGGCGGTGCGCTACCAGGGCCGCGCGCAGGCCGTGCTGCAGCAGTACCAACACCTGCCCTCGTTCCGCGCCATCCAGGACGACTGCCAGGTCATCACGGCCCGCCTGGCCCAGCAGCTGCGGCAGCGCTTTAGGTGTGGCCCCTCTGCCCTGACCCCAGCGCTCCCGCCAGCCCCGAGCCCCATCTGTGCCCGGCTCCTGGGCCCTCCTGGAGCTGTCCCCCTGCCCTGTGTGTGCTTTGCTTTCCTGCTCCTGCCCCATCCACCGGCAGCCCCGGCCCTGCCCTTCACTACCTCTCCCTCGTGCAGGGAGGGCGGCTCAGGCGCCCCGGAGCAGGCAGAGTGCGTGGAGCTGCTGCTGGCCCTGGGCGAGCCTGCGGAGGAGCTGTGCGAGGAGTTCCTGGCGCACGCCCGCGGCCGGCTGGAGAAGGAGCTGAGAAACCTGGAGGCCGAGCTGGGGCCCTCACCTCCGGCTCCCGACGTGTTAGAGTTCACCGACCATGGAGGCAGTGGCTTCGTGGGCGGCCTCTGCCAGGTGGCGGCGGCCTACCAGGAGCTGTTTGCGGCCCAGGGCCCAGCAGGTGCCGAGAAGCTGGCGGCCTTCGCCCGGCAGCTGGGCAGCCGCTATTTTGCGCTGGTGGAGCGGCGGCTGGCGCAGGAGCAGGGTGGTGGTGACAACTCACTGCTGGTGCGGGCGCTGGACCGCTTCCACCGGCGCTTGCGGGCTCCCGGGGCCCTGCTGGCCGCTGCCGGGCTCGCAGACGCTGCCACGGAGATCGTGGAACGAGTGGCCCGCGAGCGCCTGGGCCACCACCTGCAGGGTCTCCGGGCGGCCTTCCTGGGCTGCCTGACAGACGTCCGCCAGGCGCTGGCAGCACCTCGCGTGGCTGGGAAGGAGGGCCCTGGCCTGGCCGAGTTGCTGGCCAATGTGGCCAGCTCCATCCTGAGCCACATTAAGGCCTCTCTGGCAGCAGTGCACCTTTTCACCGCCAAAGAGGTGTCCTTCTCCAACAAGCCCTACTTCCGGGTACGCCTCCTCTTGGGTGTTCCTTGTTCAACCTGCTGGTTGACCCTCCAAAACCTTTTATGCCAGTGCTTGGGAAACTGGGGAAACCAGGCACTCTGGGTGTGGTTTCAGGTTCTTATGCACGGTCTGGGGGGTGGGGAAGGCTCAGGGCATCTGCAGCTGGGCTGAGAAGCAGGGCATGGTGGGGTCCCCAGTGTTGGCTTTCTCTGCCCCCACTCAGGGAAGCTGCTCCGGGGTACTTAGAATGTAGGATGATGCTGTCCCTTGCAGAGGGGGCTGGGGCACTTAGAGCCCCAGCAGAGGGTCATTAACAGCCTTACCTGGAAGAGGGGACCTGCTGTGGACCTGGGCACCTTCTCTTGCAGGGTGAGTTCTGCAGTCAGGGTGTCCGTGAGGGCCTCATCGTGGGCTTCGTCCACTCTATGTGCCAGACGGCTCAGAGCTTCTGCGACAGCCCTGGGGAGAAGGGGGGTGCCACACCACCTGCCCTGCTCCTGCTGCTCTCCCGCCTCTGCCTGGACTACGAGACGGCCACCATCTCCTACATCCTCACTCTCACTGATGAACAGTTTCTGGTGCAGGTGAAGCACTAGCTCCTAGCCGGGCAGGGAATGGTGTTGCTGGGAATGCAGATGGCTGGACAGTGCCCTCATGGCCAGACCCCAGACCAGCTGCCTGTGTGTACCCCAGCCTCCACCTTGCCCAATCTGTGCCCAGCTCCTGGTTGGCAGTGGCCCCTGAGCTGCCCCCACCATACCCACTCCCTCTGTCCTCTGCCTCCTTGGCTCAGGATCAGTTCCCAGTGACGCCCGTGAGCACGCTGTGTGCAGAGGCCAGGGAAACGGCGCGGCGGCTGCTGACCCACTACGTGAAGGTGCAGGGCCTGGTCATATCACAGATGCTGCGCAAGAGCGTGGAGACTCGCGACTGGCTCAGCACTCTGGAGCCCCGGAATGTGCGGGCCGTCATGAAGCGGGTGGTGGAGGATACCACCGCCATCGACGTGCAGGTGCTGCCCAGGCTGGCCGGGGTAGCCCTGACGCAGGCTGGGGGTACTGTCCCTTCAAGAGGGGCTGGGGCAGCAGAGGATCACTGGCAGTCCCTGCCTGGAGGAGGGGACATGTGTATCTGGGCTTCTCACGGGGCCAGTTCTGTAGCCAGGGCGTCCGTGAGGGAACCCCAGGGGAACAAGTCTCCAAGGATGAAGACCAAACGGGCTGGGGAGTGCCTATGTCCACGGTCTTGTTCCTTCTCAGCCCAGGATTATGACATCTTCGCCCCTATTTTACCTGTGGAGAAGCAGAGGCTCAGGGTTACCCAGGAAGTCAGGGCAGGGTTGGTGCTGGTGCTGAAGATTAGACCTCAGACCAACTCTTGTATCCTGCCTTTGCCCCACTCCACTGGTTCTATAAATAGCGACCATGTACCTACTAAATAGCGGGCCCCGCGGTGATTACCCTGTGATCCTTGTGATGCTTGAGTAGCTGACTTAGGGCATCCTCAGCACCGATGGGCTGGTGGTTTCCCCTGACTCGGGCCTCCTTGCAGTACCTCTTTTTACCACCAGGTGGGGCTCCTGTACGAAGAGGGTGTTCGCAAGGCCCAGAGCAGCGACTCCAGCAAGAGGACTTTCTCCGTGTACAGCAGCTCTCGGCAGCAGGGCCGCTACGCCCCCAGCTATACCCCCAGGTCTGGCTGGTCAGGGGAGCCCCAGGGGGAAGGGACAAAAGAGGGCGAGGGTGCAGGGCGGGCTCTGATTCCTTGTCTTCCCCAATCCAGTGCCCCGATGGACACCAACCTCTTGAGCAATATCCAGAAGCTATTCTCTGAACGTATTGATGTGTTCAGCCCTGTGGAGTTCAACAAGGTCCGACTTCCAACGTGACTCAGACTTCCAGGGATCCCGGGGAGGGTTGGCTGGAGCAGCCCCACACCTGCCCAAGGAGCCCCAGGACTCTGTGACCAACTGGGGGTGACCCTGACCCTCCAGTCTCTGTCTCTAGGGCTGTTTTTAGGTAGTACAGAGTGCCCTGCCTCCAAATCCCACAGCCCTTGTCCCAGTCTTGGTGTATGCCCAGCCTGAGTCTGGGTGCTGACCTGGGATTACTGTTTGCCCTTGTCCTTATCCCCACAGTAGTCTTGGGTCCTCCCCAGGGTTTTCTGTTCACCCATGGTCCCTGCCCCGCCTCACTCCAAGCTCAGGGATGCCTCTGATTGCTGGGCCCTACCTGTCCCCTGCCCTCCAGATGACGGCGCTAATATTGTATCCCTCCCTTCTTATCTGGCCCCGGAGACTTTCTGCCTCATCCCAGCTACTTCCATCGTATGTCTCCCGGGCCCCTGCTTGGAACTTGGGTGTCCCCCACACACACCTGCAGTCCCCAAGCTGCATCCCTGTGTCCCTGCCTGCAGGTGTCGGTGCTGACCGGCATCATCA
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GAGCAGTTGAGGCACAGTGGTGGCAGCTGGCTAAGCACCTGCGGCCTGCTTCGGATCTGGACTAATTCTGAGGGCCGGCTCTCCTGGGCACCAGGGTTAGGGGGTTACGGGGAGTATGTGAGTAACGCCTGCTTTGGGAACATAAACCCCCTCCCCCGCCCCCATGTGCGCTGTGACCCACGCCCTCGCAGTCCTTTCTCTGGAATCATCCATGCGCCCCTGGAGCAAGCTGGGGCGTCTGTGAAGGGGTGGGTGAGAAGGAGCTGAGGTTGCGCCCGCCCTGCAGTCACCTGCTCTCCCCTTTTCCCCGCCCCTGCCCTCCTAGACACCATCCGGAAGATGAAGAACGATTTCCGGAAGATGGAGGATGAGATGGACCGGCTGGCCACCAACATGGCAGTGATCACCGACTTCAGCGCTCGCATCAGCGCCACGCTGCAGGACCGCCACGAGCGCATCACCAAGCTGGCAGGTGGGCGCTGCCGGGCAGGGCCTGCAGTGGGCCTTTCCTGGGGCTCTGGGGCTAACGTCACCCTCCGTCCCCCAGGGGTCCACGCGCTGCTGCGGAAGCTGCAGTTCCTCTTTGAGCTGCCCTCGCGCCTCACCAAGTGCGTGGAACTGGGCGCCTATGGGCAGGCGGTGCGCTACCAGGGCCGCGCGCAGGCCGTGCTGCAGCAGTACCAACACCTGCCCTCGTTCCGCGCCATCCAGGACGACTGCCAGGTCATCACGGCCCGCCTGGCCCAGCAGCTGCGGCAGCGCTTTAGGTGTGGCCCCTCTGCCCTGACCCCAGCGCTCCCGCCAGCCCCGAGCCCCATCTGTGCCCGGCTCCTGGGCCCTCCTGGAGCTGTCCCCCTGCCCTGTGTGTGCTTTGCTTTCCTGCTCCTGCCCCATCCACCGGCAGCCCCGGCCCTGCCCTTCACTACCTCTCCCTCGTGCAGGGAGGGCGGCTCAGGCGCCCCGGAGCAGGCAGAGTGCGTGGAGCTGCTGCTGGCCCTGGGCGAGCCTGCGGAGGAGCTGTGCGAGGAGTTCCTGGCGCACGCCCGCGGCCGGCTGGAGAAGGAGCTGAGAAACCTGGAGGCCGAGCTGGGGCCCTCACCTCCGGCTCCCGACGTGTTAGAGTTCACCGACCATGGAGGCAGTGGCTTCGTGGGCGGCCTCTGCCAGGTGGCGGCGGCCTACCAGGAGCTGTTTGCGGCCCAGGGCCCAGCAGGTGCCGAGAAGCTGGCGGCCTTCGCCCGGCAGCTGGGCAGCCGCTATTTTGCGCTGGTGGAGCGGCGGCTGGCGCAGGAGCAGGGTGGTGGTGACAACTCACTGCTGGTGCGGGCGCTGGACCGCTTCCACCGGCGCTTGCGGGCTCCCGGGGCCCTGCTGGCCGCTGCCGGGCTCGCAGACGCTGCCACGGAGATCGTGGAACGAGTGGCCCGCGAGCGCCTGGGCCACCACCTGCAGGGTCTCCGGGCGGCCTTCCTGGGCTGCCTGACAGACGTCCGCCAGGCGCTGGCAGCACCTCGCGTGGCTGGGAAGGAGGGCCCTGGCCTGGCCGAGTTGCTGGCCAATGTGGCCAGCTCCATCCTGAGCCACATTAAGGCCTCTCTGGCAGCAGTGCACCTTTTCACCGCCAAAGAGGTGTCCTTCTCCAACAAGCCCTACTTCCGGGTACGCCTCCTCTTGGGTGTTCCTTGTTCAACCTGCTGGTTGACCCTCCAAAACCTTTTATGCCAGTGCTTGGGAAACTGGGGAAACCAGGCACTCTGGGTGTGGTTTCAGGTTCTTATGCACGGTCTGGGGGGTGGGGAAGGCTCAGGGCATCTGCAGCTGGGCTGAGAAGCAGGGCATGGTGGGGTCCCCAGTGTTGGCTTTCTCTGCCCCCACTCAGGGAAGCTGCTCCGGGGTACTTAGAATGTAGGATGATGCTGTCCCTTGCAGAGGGGGCTGGGGCACTTAGAGCCCCAGCAGAGGGTCATTAACAGCCTTACCTGGAAGAGGGGACCTGCTGTGGACCTGGGCACCTTCTCTTGCAGGGTGAGTTCTGCAGTCAGGGTGTCTGTGAGGGCCTCATCGTGGGCTTCGTCCACTCTATGTGCCAGACGGCTCAGAGCTTCTGCGACAGCCCTGGGGAGAAGGGGGGTGCCACACCACCTGCCCTGCTCCTGCTGCTCTCCCGCCTCTGCCTGGACTACGAGACGGCCACCATCTCCTACATCCTCACTCTCACTGATGAACAGTTTCTGGTGCAGGTGAAGCACTAGCTCCTAGCCGGGCAGGGAATGGTGTTGCTGGGAATGCAGATGGCTGGACAGTGCCCTCATGGCCAGACCCCAGACCAGCTGCCTGTGTGTACCCCAGCCTCCACCTTGCCCAATCTGTGCCCAGCTCCTGGTTGGCAGTGGCCCCTGAGCTGCCCCCACCATACCCACTCCCTCTGTCCTCTGCCTCCTTGGCTCAGGATCAGTTCCCAGTGACGCCCGTGAGCACGCTGTGTGCAGAGGCCAGGGAAACGGCGCGGCGGCTGCTGACCCACTACGTGAAGGTGCAGGGCCTGGTCATATCACAGATGCTGCGCAAGAGCGTGGAGACTCGCGACTGGCTCAGCACTCTGGAGCCCCGGAATGTGCGGGCCGTCATGAAGCGGGTGGTGGAGGATACCACCGCCATCGACGTGCAGGTGCTGCCCAGGCTGGCCGGGGTAGCCCTGACGCAGGCTGGGGGTACTGTCCCTTCAAGAGGGGCTGGGGCAGCAGAGGATCACTGGCAGTCCCTGCCTGGAGGAGGGGACATGTGTATCTGGGCTTCTCACGGGGCCAGTTCTGTAGCCAGGGCGTCCGTGAGGGAACCCCAGGGGAACAAGTCTCCAAGGATGAAGACCAAACGGGCTGGGGAGTGCCTATGTCCACGGTCTTGTTCCTTCTCAGCCCAGGATTATGACATCTTCGCCCCTATTTTACCTGTGGAGAAGCAGAGGCTCAGGGTTACCCAGGAAGTCAGGGCAGGGTTGGTGCTGGTGCTGAAGATTAGACCTCAGACCAACTCTTGTATCCTGCCTTTGCCCCACTCCACTGGTTCTATAAATAGCGACCATGTACCTACTAAATAGCGGGCCCCGCGGTGATTACCCTGTGATCCTTGTGATGCTTGAGTAGCTGACTTAGGGCATCCTCAGCACCGATGGGCTGGTGGTTTCCCCTGACTCGGGCCTCCTTGCAGTACCTCTTTTTACCACCAGGTGGGGCTCCTGTACGAAGAGGGTGTTCGCAAGGCCCAGAGCAGCGACTCCAGCAAGAGGACTTTCTCCGTGTACAGCAGCTCTCGGCAGCAGGGCCGCTACGCCCCCAGCTATACCCCCAGGTCTGGCTGGTCAGGGGAGCCCCAGGGGGAAGGGACAAAAGAGGGCGAGGGTGCAGGGCGGGCTCTGATTCCTTGTCTTCCCCAATCCAGTGCCCCGATGGACACCAACCTCTTGAGCAATATCCAGAAGCTATTCTCTGAACGTATTGATGTGTTCAGCCCTGTGGAGTTCAACAAGGTCCGACTTCCAACGTGACTCAGACTTCCAGGGATCCCGGGGAGGGTTGGCTGGAGCAGCCCCACACCTGCCCAAGGAGCCCCAGGACTCTGTGACCAACTGGGGGTGACCCTGACCCTCCAGTCTCTGTCTCTAGGGCTGTTTTTAGGTAGTACAGAGTGCCCTGCCTCCAAATCCCACAGCCCTTGTCCCAGTCTTGGTGTATGCCCAGCCTGAGTCTGGGTGCTGACCTGGGATTACTGTTTGCCCTTGTCCTTATCCCCACAGTAGTCTTGGGTCCTCCCCAGGGTTTTCTGTTCACCCATGGTCCCTGCCCCGCCTCACTCCAAGCTCAGGGATGCCTCTGATTGCTGGGCCCTACCTGTCCCCTGCCCTCCAGATGACGGCGCTAATATTGTATCCCTCCCTTCTTATCTGGCCCCGGAGACTTTCTGCCTCATCCCAGCTACTTCCATCGTATGTCTCCCGGGCCCCTGCTTGGAACTTGGGTGTCCCCCACACACACCTGCAGTCCCCAAGCTGCATCCCTGTGTCCCTGCCTGCAGGTGTCGGTGCTGACCGGCATCATCA
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Task1_train_16074
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The gene CAPN1 (calpain 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Autosomal recessive spastic paraplegia type 76
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GACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCACCCCGCCCCGCCCCCCGTTGTCCTGGCCCCGACCCCTCAGATGGTACCTCGAGTCCTTGGTCGCTTCTGACCCCAGACGCCTTCGGCCCCGACCCTGCCCTGGGAAACGTGGCCTTTGTGGCATCTCAGAAACAAAGCCCGTGATTGTGAGAACCAGTCCTGCCCATCTTGTGGTTGTAGGATCTGGATGCCACATTTTCACTGCTCATCCAATGACACAGGTGCCCCTAACCCCCTTGAATAGGGAGGGAAGAGCCAGGGGGCCATGGCCTAAAAGGGGGCTAGTTCCGGAAAGCCCAGGCCCCAGAGCTTTTCCACCTCTCCGTGCCTGAGGAGGAACCCTGTTTGTTCAGTGACTCCCTAAAGGCTTTGCCTGTGCTCTTGTTTAAGTCTTCCGTGAAGAAGGCACCGCTGCTCCTTTTTATGGATAGGGAAACTGAGGCTCAGAGGCGATAACTTTTCCAGGATCATGTAGCTAGTATGTCTCGAGCATACATGTACATATCAAGTATACACATGTCTATATGTGGTATGCATGTATTAGTATACAGCAAATATGCAGGTATCTAGTATACATTGTACAGGCAAAGGAAAGCATCCCCTTAGCCCTCTGAAGGTTCACTGAAAAATCAACTCACAAAAGGAGGTTAGTAGGAGAAATGGCATACAAATTGATTAGCCTGCAGCGTGGGGTCGGGAACCACAGAGTGTTCACCCCAGCCCCACAATGGGTACAGAAGCCTATATACCATCCTGAGGTTACAGGAAGAATGGGGGCTCGAACATGGCCAAAACCAGTTTCTGGTGGTAAATCAGGTTATAGTGGCAAGACAGACTATGGAAGGGGGAGAAAAGGGGGCCTGGGTAGCAAAGGCAGTCTTGTTATGTAGATGAAACCTCACAGGTAGCAGCCCTCAGAGGGAATAGATGGTAATTGTTTCGTTCAGACCTTTAAAGGGTGTCAGGCTCTCAGTCTGACAAGGGAAGGCCTTAGAGAAAGCCTGGCTACATCAATGCAGATTTTCTCTACAGATGCAAATCTCCCCCACAAAAGACAGTATTACAGGGCTACTTCTGTTTGCAGACCCTCTGAACAGCTATCTCAAAATATGTTGAAGAAGTATATTTCAGGGTGAAATACTTTGATTTCCTTCAATACCTAGATACATGTATCTAGTATATCTGTAGCATACATGTATCTAGAGGTACACATGCATCTAGTATGTATCTAGTATATGTGATTTAGTATACATGCATCTACTATGTATCTGGTATACCTGACCTAGTATACATCTAGTATGTATCTAATTTACATGATTTAGTCTATGTGTATCTAGTATGTATCTGGGATGTAGAATCCTGCATCTAGGAAGGTAGGGGTAAGGATGGAGCTCAGGTCCGGGGGATTCCAAAGCAGGTACTCACCGTGCCCCTCCCCCACAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACGTGAGTGTGCCCGGCCCCGATGCTTTGGTACCCTGGAACCCTGGTATCCTGACCTGTCACATTTTCTAAAATCCCCACCCAGGCTCCGCTCCAGACCCTGTCCTGCACTTAAGCTTCATCTCTGGATGCATACCCTGCCTCATCCATCACTTCCACCCCCCATGCCTGGTGTCGCTCCTGTCCTCACCTACCCACTCCTCCCCCAAAACTTCACACCTCAGCTCTTTCCTGTGCTTGTTTTCCCGTCTACCATGCTGTTTCCCTCATTCCTGTCATCTCAATCCATGCCATCCTCTGTCCAGTTCACCAGCCTCAGATTTCATCTCCTGGTCTCAGTTCCCACCCATCCCTAGCCTCAATCCCACACTCACTCCATTCCCACCCTTCCCTGCTCCTCTGTTCCCACACTCAACTCCGCTCCCCAGTCCTCAACGCCAGACTTGACCCCAGTATCACTGCCATCCGCAGCTCTAACCCCAGCTCCCATTCCCATTTCTAACTGACTCTTCTGTCCTCACGTCCTTCTCCGTGAGGCCCACTGAGGGCTGTGTGGCTCTGGTGGGCTGTGCACGGCTGTGTGTGTGCACATGCATGTTCGCACAGGTTCTGGTCAGCCCTGGCCAGTAGCAGTGTCAGCGGAGTGCCTGGGCTCCCCTGTCCCAGTGGCAGCATTGGTGGGGTACCCAGGCTACCCCTCTCCAAAAGAGCAGCATCTATATGTGGGGGTGTCTATAGGTGGGATCGGGGTCCCTGCTTGCTTCTCCTAGCAACTGTTGTATGTGCAAGTGGGAACGTCCAAGACCCTGAGTGCTGGGGGCTCATCTGATAGGGCGGGGGGACCTAGCCACTGACCACAGTGTGTGCCTCTTTCTGCAGATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAGCAGGTACTGCCCTGGGTGGGGCCTTCCCTGAAGGGCGGTTCCTGCCCCCTGGCCTGTCCTTGCCTCTCTGGCACCTGACCAGGGCTGTGGAAGGTGCTGGCTCCTCCTTTCCCCTCCTGCAGCACCTTATCTCTCTTCTGGGGACACCCATCTGAGATGCCTATCATGTCCTGCCCTGACTGACTGTAGTTCATGTGTGCAGCTGCCTGCCTGGGCTGTGAATTCCAAGAGGACAGGCTTCATCTGGGTGCTGAGCAGGGCTTGGAGAGGATGAGGGTATGGGAGGCGGAGTGTTAAAGTGCGTGCATGGGCCAGGTGCACTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAACTACCTGGGTGTGGTGGCAGGTGCCTGTAATTCCAGCTATTTGGGAGGCTGAGGCAAGAGAATTGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAAAAAAAAAGTGCCTGCTGGAAGCTAGCACTGACAGGAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGACAGGTGAGGGGCAGTGGGCACTGTCTGGAGTGCCTTGGGGAAACTGTTAGGTGCCCCGACATTTCTGCTCGGGACTCTACCAGGCCAGGCTGGACTCAGGATTGAGCAGAGGGGCCCATCTTCGCGCGACTGGGTCTGGGGGACTGCTCTGACAAAGCTCAGGCCGTGCGGGCCCCTGTGCCCAGCCGTCGGGTGTGTGCAGGGCATCAGAC
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GACTCTCCAGCCTTGGAGGCCCCAGCCCTGCCCGAAGGACTCTTGGGTGTTCCCTCCTTCTGCCTGGTTAGAGAGCCCCTTACCCTACTCTGTCCTTGCCCGCCTTGCGCGGGTGGAGGTGGCCCTCGGAACCCAGGGTGCGGAACCCACAGTGCGGATCCACTTTGGCCCAGCGCCACACCCACCTGCTCCAGTCTGCAGGGGCGCAGTCTCGCCCCCTTCCCTCGCTCCTCCAATCCGCTCCTCCCTGGCCTCCGATTGGCCAGTTCAGTACCCGCCACCCACACTCTCCGCAACCTGGGCTCCTAGGGCCGCCTCCACCCCGCCCCGCCCCCCGTTGTCCTGGCCCCGACCCCTCAGATGGTACCTCGAGTCCTTGGTCGCTTCTGACCCCAGACGCCTTCGGCCCCGACCCTGCCCTGGGAAACGTGGCCTTTGTGGCATCTCAGAAACAAAGCCCGTGATTGTGAGAACCAGTCCTGCCCATCTTGTGGTTGTAGGATCTGGATGCCACATTTTCACTGCTCATCCAATGACACAGGTGCCCCTAACCCCCTTGAATAGGGAGGGAAGAGCCAGGGGGCCATGGCCTAAAAGGGGGCTAGTTCCGGAAAGCCCAGGCCCCAGAGCTTTTCCACCTCTCCGTGCCTGAGGAGGAACCCTGTTTGTTCAGTGACTCCCTAAAGGCTTTGCCTGTGCTCTTGTTTAAGTCTTCCGTGAAGAAGGCACCGCTGCTCCTTTTTATGGATAGGGAAACTGAGGCTCAGAGGCGATAACTTTTCCAGGATCATGTAGCTAGTATGTCTCGAGCATACATGTACATATCAAGTATACACATGTCTATATGTGGTATGCATGTATTAGTATACAGCAAATATGCAGGTATCTAGTATACATTGTACAGGCAAAGGAAAGCATCCCCTTAGCCCTCTGAAGGTTCACTGAAAAATCAACTCACAAAAGGAGGTTAGTAGGAGAAATGGCATACAAATTGATTAGCCTGCAGCGTGGGGTCGGGAACCACAGAGTGTTCACCCCAGCCCCACAATGGGTACAGAAGCCTATATACCATCCTGAGGTTACAGGAAGAATGGGGGCTCGAACATGGCCAAAACCAGTTTCTGGTGGTAAATCAGGTTATAGTGGCAAGACAGACTATGGAAGGGGGAGAAAAGGGGGCCTGGGTAGCAAAGGCAGTCTTGTTATGTAGATGAAACCTCACAGGTAGCAGCCCTCAGAGGGAATAGATGGTAATTGTTTCGTTCAGACCTTTAAAGGGTGTCAGGCTCTCAGTCTGACAAGGGAAGGCCTTAGAGAAAGCCTGGCTACATCAATGCAGATTTTCTCTACAGATGCAAATCTCCCCCACAAAAGACAGTATTACAGGGCTACTTCTGTTTGCAGACCCTCTGAACAGCTATCTCAAAATATGTTGAAGAAGTATATTTCAGGGTGAAATACTTTGATTTCCTTCAATACCTAGATACATGTATCTAGTATATCTGTAGCATACATGTATCTAGAGGTACACATGCATCTAGTATGTATCTAGTATATGTGATTTAGTATACATGCATCTACTATGTATCTGGTATACCTGACCTAGTATACATCTAGTATGTATCTAATTTACATGATTTAGTCTATGTGTATCTAGTATGTATCTGGGATGTAGAATCCTGCATCTAGGAAGGTAGGGGTAAGGATGGAGCTCAGGTCCGGGGGATTCCAAAGCAGGTACTCACCGTGCCCCTCCCCCACAGCTGTGGCAATTTGGGGAGTGGGTGGACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGACAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACGTGAGTGTGCCCGGCCCCGATGCTTTGGTACCCTGGAACCCTGGTATCCTGACCTGTCACATTTTCTAAAATCCCCACCCAGGCTCCGCTCCAGACCCTGTCCTGCACTTAAGCTTCATCTCTGGATGCATACCCTGCCTCATCCATCACTTCCACCCCCCATGCCTGGTGTCGCTCCTGTCCTCACCTACCCACTCCTCCCCCAAAACTTCACACCTCAGCTCTTTCCTGTGCTTGTTTTCCCGTCTACCATGCTGTTTCCCTCATTCCTGTCATCTCAATCCATGCCATCCTCTGTCCAGTTCACCAGCCTCAGATTTCATCTCCTGGTCTCAGTTCCCACCCATCCCTAGCCTCAATCCCACACTCACTCCATTCCCACCCTTCCCTGCTCCTCTGTTCCCACACTCAACTCCGCTCCCCAGTCCTCAACGCCAGACTTGACCCCAGTATCACTGCCATCCGCAGCTCTAACCCCAGCTCCCATTCCCATTTCTAACTGACTCTTCTGTCCTCACGTCCTTCTCCGTGAGGCCCACTGAGGGCTGTGTGGCTCTGGTGGGCTGTGCACGGCTGTGTGTGTGCACATGCATGTTCGCACAGGTTCTGGTCAGCCCTGGCCAGTAGCAGTGTCAGCGGAGTGCCTGGGCTCCCCTGTCCCAGTGGCAGCATTGGTGGGGTACCCAGGCTACCCCTCTCCAAAAGAGCAGCATCTATATGTGGGGGTGTCTATAGGTGGGATCGGGGTCCCTGCTTGCTTCTCCTAGCAACTGTTGTATGTGCAAGTGGGAACGTCCAAGACCCTGAGTGCTGGGGGCTCATCTGATAGGGCGGGGGGACCTAGCCACTGACCACAGTGTGTGCCTCTTTCTGCAGATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAGCAGGTACTGCCCTGGGTGGGGCCTTCCCTGAAGGGCGGTTCCTGCCCCCTGGCCTGTCCTTGCCTCTCTGGCACCTGACCAGGGCTGTGGAAGGTGCTGGCTCCTCCTTTCCCCTCCTGCAGCACCTTATCTCTCTTCTGGGGACACCCATCTGAGATGCCTATCATGTCCTGCCCTGACTGACTGTAGTTCATGTGTGCAGCTGCCTGCCTGGGCTGTGAATTCCAAGAGGACAGGCTTCATCTGGGTGCTGAGCAGGGCTTGGAGAGGATGAGGGTATGGGAGGCGGAGTGTTAAAGTGCGTGCATGGGCCAGGTGCACTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAACTACCTGGGTGTGGTGGCAGGTGCCTGTAATTCCAGCTATTTGGGAGGCTGAGGCAAGAGAATTGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAAAAAAAAAGTGCCTGCTGGAAGCTAGCACTGACAGGAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGACAGGTGAGGGGCAGTGGGCACTGTCTGGAGTGCCTTGGGGAAACTGTTAGGTGCCCCGACATTTCTGCTCGGGACTCTACCAGGCCAGGCTGGACTCAGGATTGAGCAGAGGGGCCCATCTTCGCGCGACTGGGTCTGGGGGACTGCTCTGACAAAGCTCAGGCCGTGCGGGCCCCTGTGCCCAGCCGTCGGGTGTGTGCAGGGCATCAGAC
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Task1_train_16075
|
This alteration occurs within gene CAPN1 (calpain 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Autosomal recessive spastic paraplegia type 76
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GTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACGTGAGTGTGCCCGGCCCCGATGCTTTGGTACCCTGGAACCCTGGTATCCTGACCTGTCACATTTTCTAAAATCCCCACCCAGGCTCCGCTCCAGACCCTGTCCTGCACTTAAGCTTCATCTCTGGATGCATACCCTGCCTCATCCATCACTTCCACCCCCCATGCCTGGTGTCGCTCCTGTCCTCACCTACCCACTCCTCCCCCAAAACTTCACACCTCAGCTCTTTCCTGTGCTTGTTTTCCCGTCTACCATGCTGTTTCCCTCATTCCTGTCATCTCAATCCATGCCATCCTCTGTCCAGTTCACCAGCCTCAGATTTCATCTCCTGGTCTCAGTTCCCACCCATCCCTAGCCTCAATCCCACACTCACTCCATTCCCACCCTTCCCTGCTCCTCTGTTCCCACACTCAACTCCGCTCCCCAGTCCTCAACGCCAGACTTGACCCCAGTATCACTGCCATCCGCAGCTCTAACCCCAGCTCCCATTCCCATTTCTAACTGACTCTTCTGTCCTCACGTCCTTCTCCGTGAGGCCCACTGAGGGCTGTGTGGCTCTGGTGGGCTGTGCACGGCTGTGTGTGTGCACATGCATGTTCGCACAGGTTCTGGTCAGCCCTGGCCAGTAGCAGTGTCAGCGGAGTGCCTGGGCTCCCCTGTCCCAGTGGCAGCATTGGTGGGGTACCCAGGCTACCCCTCTCCAAAAGAGCAGCATCTATATGTGGGGGTGTCTATAGGTGGGATCGGGGTCCCTGCTTGCTTCTCCTAGCAACTGTTGTATGTGCAAGTGGGAACGTCCAAGACCCTGAGTGCTGGGGGCTCATCTGATAGGGCGGGGGGACCTAGCCACTGACCACAGTGTGTGCCTCTTTCTGCAGATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAGCAGGTACTGCCCTGGGTGGGGCCTTCCCTGAAGGGCGGTTCCTGCCCCCTGGCCTGTCCTTGCCTCTCTGGCACCTGACCAGGGCTGTGGAAGGTGCTGGCTCCTCCTTTCCCCTCCTGCAGCACCTTATCTCTCTTCTGGGGACACCCATCTGAGATGCCTATCATGTCCTGCCCTGACTGACTGTAGTTCATGTGTGCAGCTGCCTGCCTGGGCTGTGAATTCCAAGAGGACAGGCTTCATCTGGGTGCTGAGCAGGGCTTGGAGAGGATGAGGGTATGGGAGGCGGAGTGTTAAAGTGCGTGCATGGGCCAGGTGCACTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAACTACCTGGGTGTGGTGGCAGGTGCCTGTAATTCCAGCTATTTGGGAGGCTGAGGCAAGAGAATTGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAAAAAAAAAGTGCCTGCTGGAAGCTAGCACTGACAGGAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGACAGGTGAGGGGCAGTGGGCACTGTCTGGAGTGCCTTGGGGAAACTGTTAGGTGCCCCGACATTTCTGCTCGGGACTCTACCAGGCCAGGCTGGACTCAGGATTGAGCAGAGGGGCCCATCTTCGCGCGACTGGGTCTGGGGGACTGCTCTGACAAAGCTCAGGCCGTGCGGGCCCCTGTGCCCAGCCGTCGGGTGTGTGCAGGGCATCAGACTGGCCCTGATGAGACCACCCCCTAGAAGCGGAACCTTGGCGCTTGACCTTGAGGAGGCCACCTGGGCTGGGCCGGGGGAAGACAGGCCAGGGTAGACAGGCCCCAGGGACAGAGGCCAGGCAGGTCAGTGCCCACCAGCCCTGGCAGAGCCCTGCTCCTCACAGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGTGAGCGCCCCCTCCCCTTCTACCCCACCTCTCCACCCCTACACATCAGCTCTGTGCCCTGACGGGCTGTGCCTCACCTGTGTACCTCCCACCTCAGGATGTCATTCCGAGACTTCATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCGGCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGGTGCACAGGGGCGGGCTCTGGGTCTTGCTGCTTCCTGGCTTAGGGGCTCCAGAAGGCACGTCATCTTACTGAGCCTCCGTTTCCTCACTTGCAAGATATAGGCTGATCTCTTGAATTTGCTTTGAGGAGTAAAATATTAAATGTCCTAGTAAATTTTAAAGAGGCATGCTTGACTCACCGTCTTGGGGCCTGAGCCCAGGGTGCTCATGAGGGGCAAAGATCTTGTGGCCATCCAGCCACCTGCCTGTCACTCCTTTCCTGGGCCCTTCCCTCCTGCCTTCGCTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCGTGGCCTTGGCTGACTACAACCTCCATCTCCCGGATTCAAGCAATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACCTACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCGACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCAGGTCCCTTCTTGCCTTCTCTTGCCACCTTTCCCTGGGCTTCTAGATCCATGTGGCTGATGTGGGCCACAGCCTGGCCTCTCAGTTCCTTGTCACTCTCACTGCAGCACGCTTTTTCTCTACCTTAGCTCAGCCCCCACCATGAGGGCACCAGAGCTGCCTTGTCTTGCAAACACCCGCTCTCTGACCTCCACCTTCGACTCTTTCCACTCCCTTAGTCTTCAACCCTTCGACCAAGCCAGTCCGTTGAACCCATCACTTGCGTACCATCCTGCCTCTCCCATCTTGCCTTCTCTCCTTACCTAGGTTAGAGCTATCATTTTAATCTTGTTCCTACAAACACTTTCAGTTCCCTGGCCCCTGTCTCCCATCATCTGGCACAAAACCCATCTCCACTGGCTTGGGAACCATTGAGTGTGGCAGGAGAGAAATCACATAACCGATGCCATATTTTCCCTGTAAATTCTTAGCCACAAATCTCAAATGAGCATTTTCCATAATCCCCAGCAATTCCACTACTGGTTAGTAACATTTCCACTCTCACCTCGATATCTCCCCACTGTTACTCTCACCTTCGGGCCTGGCCTTGCACTTCACTGAAAAGATAGACTTCATCCTGCAGGACACCTTGTGTTCCCACCTCCAAATCCCCCAGCCTTCTGCACCTGTGCCTGTGTCCTCATCGCCTCCCCACCTGCGACAGTGGCAGAACAGTCCCTGTTCATGGG
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GTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCTGCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAAGTGAGTAGCGGCTGAGGGGGCAACTCCAGCTTCCAGCTCCCCCTAGGGGTGGGGGCTCATGACTGTCTTCTCAGAGGGTCCTGCTTGATGCCAGAGTGCTGACCTGGAGCTGCCCACAGGGTAAATGGCAGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGGGTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAGGCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGACGTGAGTGTGCCCGGCCCCGATGCTTTGGTACCCTGGAACCCTGGTATCCTGACCTGTCACATTTTCTAAAATCCCCACCCAGGCTCCGCTCCAGACCCTGTCCTGCACTTAAGCTTCATCTCTGGATGCATACCCTGCCTCATCCATCACTTCCACCCCCCATGCCTGGTGTCGCTCCTGTCCTCACCTACCCACTCCTCCCCCAAAACTTCACACCTCAGCTCTTTCCTGTGCTTGTTTTCCCGTCTACCATGCTGTTTCCCTCATTCCTGTCATCTCAATCCATGCCATCCTCTGTCCAGTTCACCAGCCTCAGATTTCATCTCCTGGTCTCAGTTCCCACCCATCCCTAGCCTCAATCCCACACTCACTCCATTCCCACCCTTCCCTGCTCCTCTGTTCCCACACTCAACTCCGCTCCCCAGTCCTCAACGCCAGACTTGACCCCAGTATCACTGCCATCCGCAGCTCTAACCCCAGCTCCCATTCCCATTTCTAACTGACTCTTCTGTCCTCACGTCCTTCTCCGTGAGGCCCACTGAGGGCTGTGTGGCTCTGGTGGGCTGTGCACGGCTGTGTGTGTGCACATGCATGTTCGCACAGGTTCTGGTCAGCCCTGGCCAGTAGCAGTGTCAGCGGAGTGCCTGGGCTCCCCTGTCCCAGTGGCAGCATTGGTGGGGTACCCAGGCTACCCCTCTCCAAAAGAGCAGCATCTATATGTGGGGGTGTCTATAGGTGGGATCGGGGTCCCTGCTTGCTTCTCCTAGCAACTGTTGTATGTGCAAGTGGGAACGTCCAAGACCCTGAGTGCTGGGGGCTCATCTGATAGGGCGGGGGGACCTAGCCACTGACCACAGTGTGTGCCTCTTTCTGCAGATCTCCAGCGTTCTAGACATGGAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAGCAGGTACTGCCCTGGGTGGGGCCTTCCCTGAAGGGCGGTTCCTGCCCCCTGGCCTGTCCTTGCCTCTCTGGCACCTGACCAGGGCTGTGGAAGGTGCTGGCTCCTCCTTTCCCCTCCTGCAGCACCTTATCTCTCTTCTGGGGACACCCATCTGAGATGCCTATCATGTCCTGCCCTGACTGACTGTAGTTCATGTGTGCAGCTGCCTGCCTGGGCTGTGAATTCCAAGAGGACAGGCTTCATCTGGGTGCTGAGCAGGGCTTGGAGAGGATGAGGGTATGGGAGGCGGAGTGTTAAAGTGCGTGCATGGGCCAGGTGCACTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAAACTACCTGGGTGTGGTGGCAGGTGCCTGTAATTCCAGCTATTTGGGAGGCTGAGGCAAGAGAATTGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAGAAAAAAAAAAAAAGTGCCTGCTGGAAGCTAGCACTGACAGGAGCTCTGGCAAATAGGTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCCGAACCCCTGGGGCGAGGTGGAGTGGACGGGAGCCTGGAGCGACAGGTGAGGGGCAGTGGGCACTGTCTGGAGTGCCTTGGGGAAACTGTTAGGTGCCCCGACATTTCTGCTCGGGACTCTACCAGGCCAGGCTGGACTCAGGATTGAGCAGAGGGGCCCATCTTCGCGCGACTGGGTCTGGGGGACTGCTCTGACAAAGCTCAGGCCGTGCGGGCCCCTGTGCCCAGCCGTCGGGTGTGTGCAGGGCATCAGACTGGCCCTGATGAGACCACCCCCTAGAAGCGGAACCTTGGCGCTTGACCTTGAGGAGGCCACCTGGGCTGGGCCGGGGGAAGACAGGCCAGGGTAGACAGGCCCCAGGGACAGAGGCCAGGCAGGTCAGTGCCCACCAGCCCTGGCAGAGCCCTGCTCCTCACAGCTCCTCAGAGTGGAACAACGTGGACCCATATGAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTGGTGAGCGCCCCCTCCCCTTCTACCCCACCTCTCCACCCCTACACATCAGCTCTGTGCCCTGACGGGCTGTGCCTCACCTGTGTACCTCCCACCTCAGGATGTCATTCCGAGACTTCATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGCCGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCGGCGGGGGAGCACCGCGGGGGGCTGCCGAAACTACCCAGGTGCACAGGGGCGGGCTCTGGGTCTTGCTGCTTCCTGGCTTAGGGGCTCCAGAAGGCACGTCATCTTACTGAGCCTCCGTTTCCTCACTTGCAAGATATAGGCTGATCTCTTGAATTTGCTTTGAGGAGTAAAATATTAAATGTCCTAGTAAATTTTAAAGAGGCATGCTTGACTCACCGTCTTGGGGCCTGAGCCCAGGGTGCTCATGAGGGGCAAAGATCTTGTGGCCATCCAGCCACCTGCCTGTCACTCCTTTCCTGGGCCCTTCCCTCCTGCCTTCGCTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTAGCGTGGCCTTGGCTGACTACAACCTCCATCTCCCGGATTCAAGCAATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCACCTACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCAGGTGATCCGACCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCAGGTCCCTTCTTGCCTTCTCTTGCCACCTTTCCCTGGGCTTCTAGATCCATGTGGCTGATGTGGGCCACAGCCTGGCCTCTCAGTTCCTTGTCACTCTCACTGCAGCACGCTTTTTCTCTACCTTAGCTCAGCCCCCACCATGAGGGCACCAGAGCTGCCTTGTCTTGCAAACACCCGCTCTCTGACCTCCACCTTCGACTCTTTCCACTCCCTTAGTCTTCAACCCTTCGACCAAGCCAGTCCGTTGAACCCATCACTTGCGTACCATCCTGCCTCTCCCATCTTGCCTTCTCTCCTTACCTAGGTTAGAGCTATCATTTTAATCTTGTTCCTACAAACACTTTCAGTTCCCTGGCCCCTGTCTCCCATCATCTGGCACAAAACCCATCTCCACTGGCTTGGGAACCATTGAGTGTGGCAGGAGAGAAATCACATAACCGATGCCATATTTTCCCTGTAAATTCTTAGCCACAAATCTCAAATGAGCATTTTCCATAATCCCCAGCAATTCCACTACTGGTTAGTAACATTTCCACTCTCACCTCGATATCTCCCCACTGTTACTCTCACCTTCGGGCCTGGCCTTGCACTTCACTGAAAAGATAGACTTCATCCTGCAGGACACCTTGTGTTCCCACCTCCAAATCCCCCAGCCTTCTGCACCTGTGCCTGTGTCCTCATCGCCTCCCCACCTGCGACAGTGGCAGAACAGTCCCTGTTCATGGG
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Task1_train_16076
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Here is a mutation in CAPN1 (calpain 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal recessive spastic paraplegia type 76
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AGTTGTGCAACCATCACCACATCAATTTTAGAACATTTCATTATCCCAAAAACAAATGAGGTACTCCTTAGCCATGACTCCCCAGCCCTCCCAGCAGCCCTGGCAACCACAAATCTACTTCTTATCTCTATGGATTTGCCTACTGGGATATTTCATGTGAACAGGATCATATAATACATGGTCCTTTGTGGCTGGCCTTTTTCATTTAGCATAATGTTTGCAAGGTTCCTCCATGTTGTAGCATGGATCAGAATGTTGTTCCTCTTTGTTGCCAAATAATATCCCATTGTTTGGCTCCATATTTTGTATATTCACTCTTCAGTTGATGGATAATTGGGTAGTTTCATCCACTCAGCTGTTATAAATAATGCAGCCATTAACATTCTCTCTTTTTTTTTTTAAATGGAATCTTGCTCTCTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCTACCTCTGCCTCTGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAGTTTTGTGGGTTGTTTGTTTTTGAAACTGAATCTTACTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGGGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGAGTTTCACCATATTGTCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCGTCTGCCTGGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCACACTCTTATGAACAAGGCTTTGCATGGACACGTTTTCATTTCTCTTGGGTATAGAGCTTGGAGTGGAATTTCTGGGTCATATGAAGCTCTGTGTTTAACCTTTTGAGAAAGTGCCAGAATGTTCTTCGGAGCAGCTGCAACATTTTACATTCCCACCGGCATCCTGTGAGGTTCCCATCCCTCCACATCCTCACCCAAGTTGTTATTATCTTTATTATTATTATTATTATTGTCAATGGAGGGCAGGGGATGCAGTGGCTTATTAGTGCCTTTAAAAATAAGTTTTGCAGTTTACCGTTCTATCCCGCACTGGGTTGTTTTAGTCAAGAAGGTTCTTTAGGCAGCAAAATCACCCAACTGCCAGAAATGCAAGCCCCTGCCTTCCCTTGCTGGCTGGCTGTGGCCTCCTGTCGGACCCCTGCTTTTTCTCTTGCCTTCTTCTAAGCTGTTGTCCACGCAGCACTCGAGCCACCTTTTAGAGTCCTAATGCAGTCACATGCCTCCTCGCTGCAAGCTGTGGGAGGGTTCTTACCCTTTGCTTCAGTCCACACGCCCTAGTCCCTGGCCGGCTCCTGGGAGCTCTGCGGCCTCCCTGGGTCTCCGTGTTTCCTAGAGCCTCCGTAAGTGCTCCCTGTCCGCAGATGCGTGGGGCCCTTCCTCACCTCTGCTCTGGGGTGCCCTCCGCCTGGCTTCTGCTTCTCAGCAGCTTCCCAGGGCAGCCCCTTCGGGTCTCAGCGCATAGGTCCCCTACTCTGATCTACTCCTGCTTGCTTTTTTTTGCAGTTGCTCTGCTCGCTAACCTAACGGACTTGCTCAGACTTAAGCCTCTAGTTTCCAAATGCAGGCCGTGAGGGCATGGACCGAGCCTGGCCCAGCCTGCCCATCACCCTGCATGTTCCAGGTGCTCAATAATATTTGTTGAATGAATGAATGCGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCCCCGACCCGCAGTGCAGGCGGGCTTCCACCAGGGGGCGCCAGGGACCATGCCCTTCCCCACAAATTCCCCTCCACTCCCCCCACCATCCTGAGGGCTGGGAAATCTCAGCCTCCAGGAGGCACCTGCTGAGGCCCTCTGGCCGAAAGAGAGGAAGGGGGTTGGCTCAGGGAAGGGAGATTCTGGGATTCACCTCACGCTTAGAGGGCGGCCTGCTGCTCTTGGAGGAGGGAGCTGGCTCAGCTGATGCCTGGGAGTACTGAGCCCTCCGTCTTGGAAGCTGTGAGCAGAAGCTGGCAGGGGAAAGATAGGGGATAGGGAGGGCCTGTCGGCCAAGGTGAGGCTGTGCCAGTCGCTCTGGGATTAGAACTCCTTGCTCTTGCCCTGTATCTGCCCTGCTTCACACACTGCCCTCAAGACAGGGAGAGAAACTTCTGGACCTCCCTGGTCGCAGTCTTGGCCCACACCCAAACCCCCTGGCAGCAGCCTGCGGTGGCCCTTTCCTGTCCCTGGGCTTTGGAACATTGCAGTTGGCCACCCCGGGGGCTGGCCTGGAGCCTCTGACTCAGAATGGAGTCCTAGGGCAAGCATTCCCAGGACCAAGAGGACCCTGCCTGAGCCCTCCCTCCTGGGGCCCTGCTGTGGTGCAGGGACCAGATCTGGGTCCCCAGGGCCCTGCCTTCTGCCTCCTTATCCCATCAGTCCCGTCTAAGAACTCAAGACCTCTGCCCAGCATGCACTGTGACCCCGCCCTGGGACAAACACACATCTCTGACTTCCCCTGTCTCTCTATTGCAGGTCCCTCCGGAGGTAGGTGTGGCACCATGACCCACCTGCAGTCACACACCCCTGATGGTGCCAGAGGGGAGCAACCCAGTGGCAAACCCACCCTGGCCTGGAGAGCTAAGAAGTCACCTTGTTTCACTGCTTGAAAAATGCTTCTCCCCACCTGTTCAGTGGGCAGAGCAAACATTGCTCTCCTGAGGGTCAGCACAGGTAGTCAGTGAGGGAGCTGGATTTGAGCCCTGGTCCTCAGAGCCCCTGTCTGACATGTACACATGAGGCTTTTCCTGCCTTGCCATCTACACCAAGTAAGTGCCAACTAGGGCGGTCCAGCAATGTCAGGAGCAGGGCATTAGACAGGCTGAGAGTTCTGTACCCTTGAGCAGTTGCTTAAGCTCCGAGCCTGTGTTTGTGTCTGTAAAATGGGTGTAACAGCAGAACAGCAAATGAGGTGCCGAGTACCCTGCAGTACCTGACCTGGGGAAAGCTCCCAGTGATAATAATGACAGTGTTATTGAAACACATGCCTAATCTGCAATCCGGTGCTCCTCTCCTCTACCCTCTGCAGTGAGTAGGGTTGTTACATTTTACAGATGAGGAAACTGAGGCAAAATGTCTTGTTAGGGTCACACAGGCTGTGAGTGAGCCATGCCCCAGCTCTCCAGCCCCTTGGCCAGGACAAGGAGCCTGGAGTCTGGGTCTGGGGGTGGCCCCTGAGGGTGGGCTGAGTGGGCAGCTGCAGCCCTGCTCCCTCCTCCCTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGTGAGTCATGGACTGGCCCCTGCCACTCTCCCCTCTCCCAGCCTCCCCTCTCAGGCCCTCTGCTGTCCCCCTCTGACTGGCTCCTTTCCTCCCCACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGGTGCGTGGTCCCACCCCACCAGGCCCCGTCCTCCTCTCTTCCTCACCCCTGGGTGTGTGATGGGGACCCAGGTGTCCTGTCCCCTG
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AGTTGTGCAACCATCACCACATCAATTTTAGAACATTTCATTATCCCAAAAACAAATGAGGTACTCCTTAGCCATGACTCCCCAGCCCTCCCAGCAGCCCTGGCAACCACAAATCTACTTCTTATCTCTATGGATTTGCCTACTGGGATATTTCATGTGAACAGGATCATATAATACATGGTCCTTTGTGGCTGGCCTTTTTCATTTAGCATAATGTTTGCAAGGTTCCTCCATGTTGTAGCATGGATCAGAATGTTGTTCCTCTTTGTTGCCAAATAATATCCCATTGTTTGGCTCCATATTTTGTATATTCACTCTTCAGTTGATGGATAATTGGGTAGTTTCATCCACTCAGCTGTTATAAATAATGCAGCCATTAACATTCTCTCTTTTTTTTTTTAAATGGAATCTTGCTCTCTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCTACCTCTGCCTCTGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAGTTTTGTGGGTTGTTTGTTTTTGAAACTGAATCTTACTCTGTCGCCCAGGCTGGAGTGCTGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGGGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGAGTTTCACCATATTGTCCAGGCTGGTCTCAAAACTCCTGACCTCAAGTGATCCGTCTGCCTGGGCCTCCCAAAGCGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCACACTCTTATGAACAAGGCTTTGCATGGACACGTTTTCATTTCTCTTGGGTATAGAGCTTGGAGTGGAATTTCTGGGTCATATGAAGCTCTGTGTTTAACCTTTTGAGAAAGTGCCAGAATGTTCTTCGGAGCAGCTGCAACATTTTACATTCCCACCGGCATCCTGTGAGGTTCCCATCCCTCCACATCCTCACCCAAGTTGTTATTATCTTTATTATTATTATTATTATTGTCAATGGAGGGCAGGGGATGCAGTGGCTTATTAGTGCCTTTAAAAATAAGTTTTGCAGTTTACCGTTCTATCCCGCACTGGGTTGTTTTAGTCAAGAAGGTTCTTTAGGCAGCAAAATCACCCAACTGCCAGAAATGCAAGCCCCTGCCTTCCCTTGCTGGCTGGCTGTGGCCTCCTGTCGGACCCCTGCTTTTTCTCTTGCCTTCTTCTAAGCTGTTGTCCACGCAGCACTCGAGCCACCTTTTAGAGTCCTAATGCAGTCACATGCCTCCTCGCTGCAAGCTGTGGGAGGGTTCTTACCCTTTGCTTCAGTCCACACGCCCTAGTCCCTGGCCGGCTCCTGGGAGCTCTGCGGCCTCCCTGGGTCTCCGTGTTTCCTAGAGCCTCCGTAAGTGCTCCCTGTCCGCAGATGCGTGGGGCCCTTCCTCACCTCTGCTCTGGGGTGCCCTCCGCCTGGCTTCTGCTTCTCAGCAGCTTCCCAGGGCAGCCCCTTCGGGTCTCAGCGCATAGGTCCCCTACTCTGATCTACTCCTGCTTGCTTTTTTTTGCAGTTGCTCTGCTCGCTAACCTAACGGACTTGCTCAGACTTAAGCCTCTAGTTTCCAAATGCAGGCCGTGAGGGCATGGACCGAGCCTGGCCCAGCCTGCCCATCACCCTGCATGTTCCAGGTGCTCAATAATATTTGTTGAATGAATGAATGCGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGACGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCCCCGACCCGCAGTGCAGGCGGGCTTCCACCAGGGGGCGCCAGGGACCATGCCCTTCCCCACAAATTCCCCTCCACTCCCCCCACCATCCTGAGGGCTGGGAAATCTCAGCCTCCAGGAGGCACCTGCTGAGGCCCTCTGGCCGAAAGAGAGGAAGGGGGTTGGCTCAGGGAAGGGAGATTCTGGGATTCACCTCACGCTTAGAGGGCGGCCTGCTGCTCTTGGAGGAGGGAGCTGGCTCAGCTGATGCCTGGGAGTACTGAGCCCTCCGTCTTGGAAGCTGTGAGCAGAAGCTGGCAGGGGAAAGATAGGGGATAGGGAGGGCCTGTCGGCCAAGGTGAGGCTGTGCCAGTCGCTCTGGGATTAGAACTCCTTGCTCTTGCCCTGTATCTGCCCTGCTTCACACACTGCCCTCAAGACAGGGAGAGAAACTTCTGGACCTCCCTGGTCGCAGTCTTGGCCCACACCCAAACCCCCTGGCAGCAGCCTGCGGTGGCCCTTTCCTGTCCCTGGGCTTTGGAACATTGCAGTTGGCCACCCCGGGGGCTGGCCTGGAGCCTCTGACTCAGAATGGAGTCCTAGGGCAAGCATTCCCAGGACCAAGAGGACCCTGCCTGAGCCCTCCCTCCTGGGGCCCTGCTGTGGTGCAGGGACCAGATCTGGGTCCCCAGGGCCCTGCCTTCTGCCTCCTTATCCCATCAGTCCCGTCTAAGAACTCAAGACCTCTGCCCAGCATGCACTGTGACCCCGCCCTGGGACAAACACACATCTCTGACTTCCCCTGTCTCTCTATTGCAGGTCCCTCCGGAGGTAGGTGTGGCACCATGACCCACCTGCAGTCACACACCCCTGATGGTGCCAGAGGGGAGCAACCCAGTGGCAAACCCACCCTGGCCTGGAGAGCTAAGAAGTCACCTTGTTTCACTGCTTGAAAAATGCTTCTCCCCACCTGTTCAGTGGGCAGAGCAAACATTGCTCTCCTGAGGGTCAGCACAGGTAGTCAGTGAGGGAGCTGGATTTGAGCCCTGGTCCTCAGAGCCCCTGTCTGACATGTACACATGAGGCTTTTCCTGCCTTGCCATCTACACCAAGTAAGTGCCAACTAGGGCGGTCCAGCAATGTCAGGAGCAGGGCATTAGACAGGCTGAGAGTTCTGTACCCTTGAGCAGTTGCTTAAGCTCCGAGCCTGTGTTTGTGTCTGTAAAATGGGTGTAACAGCAGAACAGCAAATGAGGTGCCGAGTACCCTGCAGTACCTGACCTGGGGAAAGCTCCCAGTGATAATAATGACAGTGTTATTGAAACACATGCCTAATCTGCAATCCGGTGCTCCTCTCCTCTACCCTCTGCAGTGAGTAGGGTTGTTACATTTTACAGATGAGGAAACTGAGGCAAAATGTCTTGTTAGGGTCACACAGGCTGTGAGTGAGCCATGCCCCAGCTCTCCAGCCCCTTGGCCAGGACAAGGAGCCTGGAGTCTGGGTCTGGGGGTGGCCCCTGAGGGTGGGCTGAGTGGGCAGCTGCAGCCCTGCTCCCTCCTCCCTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGTGAGTCATGGACTGGCCCCTGCCACTCTCCCCTCTCCCAGCCTCCCCTCTCAGGCCCTCTGCTGTCCCCCTCTGACTGGCTCCTTTCCTCCCCACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGGTGCGTGGTCCCACCCCACCAGGCCCCGTCCTCCTCTCTTCCTCACCCCTGGGTGTGTGATGGGGACCCAGGTGTCCTGTCCCCTG
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Task1_train_16077
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The gene CAPN1 (calpain 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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CGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCCCCGACCCGCAGTGCAGGCGGGCTTCCACCAGGGGGCGCCAGGGACCATGCCCTTCCCCACAAATTCCCCTCCACTCCCCCCACCATCCTGAGGGCTGGGAAATCTCAGCCTCCAGGAGGCACCTGCTGAGGCCCTCTGGCCGAAAGAGAGGAAGGGGGTTGGCTCAGGGAAGGGAGATTCTGGGATTCACCTCACGCTTAGAGGGCGGCCTGCTGCTCTTGGAGGAGGGAGCTGGCTCAGCTGATGCCTGGGAGTACTGAGCCCTCCGTCTTGGAAGCTGTGAGCAGAAGCTGGCAGGGGAAAGATAGGGGATAGGGAGGGCCTGTCGGCCAAGGTGAGGCTGTGCCAGTCGCTCTGGGATTAGAACTCCTTGCTCTTGCCCTGTATCTGCCCTGCTTCACACACTGCCCTCAAGACAGGGAGAGAAACTTCTGGACCTCCCTGGTCGCAGTCTTGGCCCACACCCAAACCCCCTGGCAGCAGCCTGCGGTGGCCCTTTCCTGTCCCTGGGCTTTGGAACATTGCAGTTGGCCACCCCGGGGGCTGGCCTGGAGCCTCTGACTCAGAATGGAGTCCTAGGGCAAGCATTCCCAGGACCAAGAGGACCCTGCCTGAGCCCTCCCTCCTGGGGCCCTGCTGTGGTGCAGGGACCAGATCTGGGTCCCCAGGGCCCTGCCTTCTGCCTCCTTATCCCATCAGTCCCGTCTAAGAACTCAAGACCTCTGCCCAGCATGCACTGTGACCCCGCCCTGGGACAAACACACATCTCTGACTTCCCCTGTCTCTCTATTGCAGGTCCCTCCGGAGGTAGGTGTGGCACCATGACCCACCTGCAGTCACACACCCCTGATGGTGCCAGAGGGGAGCAACCCAGTGGCAAACCCACCCTGGCCTGGAGAGCTAAGAAGTCACCTTGTTTCACTGCTTGAAAAATGCTTCTCCCCACCTGTTCAGTGGGCAGAGCAAACATTGCTCTCCTGAGGGTCAGCACAGGTAGTCAGTGAGGGAGCTGGATTTGAGCCCTGGTCCTCAGAGCCCCTGTCTGACATGTACACATGAGGCTTTTCCTGCCTTGCCATCTACACCAAGTAAGTGCCAACTAGGGCGGTCCAGCAATGTCAGGAGCAGGGCATTAGACAGGCTGAGAGTTCTGTACCCTTGAGCAGTTGCTTAAGCTCCGAGCCTGTGTTTGTGTCTGTAAAATGGGTGTAACAGCAGAACAGCAAATGAGGTGCCGAGTACCCTGCAGTACCTGACCTGGGGAAAGCTCCCAGTGATAATAATGACAGTGTTATTGAAACACATGCCTAATCTGCAATCCGGTGCTCCTCTCCTCTACCCTCTGCAGTGAGTAGGGTTGTTACATTTTACAGATGAGGAAACTGAGGCAAAATGTCTTGTTAGGGTCACACAGGCTGTGAGTGAGCCATGCCCCAGCTCTCCAGCCCCTTGGCCAGGACAAGGAGCCTGGAGTCTGGGTCTGGGGGTGGCCCCTGAGGGTGGGCTGAGTGGGCAGCTGCAGCCCTGCTCCCTCCTCCCTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGTGAGTCATGGACTGGCCCCTGCCACTCTCCCCTCTCCCAGCCTCCCCTCTCAGGCCCTCTGCTGTCCCCCTCTGACTGGCTCCTTTCCTCCCCACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGGTGCGTGGTCCCACCCCACCAGGCCCCGTCCTCCTCTCTTCCTCACCCCTGGGTGTGTGATGGGGACCCAGGTGTCCTGTCCCCTGAGTTCCTGCTAACAGGGAAGATCCCCTCCTGGTGGAAGCCATAGGAGTAGTGCTAATCCCTCATCCGCCCAGCACTTTACAGTTTGCAGAGGACCTGTGATACTAATGGCACAGGCCCTGAGCTCTCACCCGGTGGCGGGTTTGTGCTGAGCACTTCACCTGTGTTACCTCATTTCCTCCCCACATCAACCCTGTCCGGGTCTTGTTACCATACCTCCTCTGAATGGGAAATTCAGGTTCACAGAGGTTAGGGAACTTGCCTGAGGCCATACAGTAGGGATCCAAACTCTTGCCTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGTTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATTTTGGTCAGGCTGGTTTCAAACTCCTGACTTCAAGTGATCCACCCACCTCGGCCTCACAAAGTGCTAGGATTACAGGTGTGAGCCACCGCACCTGGCCCAAACTCTTGCCTTTTACTCACTGAGCTGAACAGCATCCCCTTCATTTAGGTCACATGAGTGCTGGATATGGGGCGGGGCAGGGCAGGGCAGGAACGAGATTCCCTTTTCAGATTAGAAAAGTGAGACTCAAGCCGGGCTCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGTTGAGGCGGGCGGATAACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCACCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATGGCTTGAGCCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGTGACAGAGTGAAACTCCATCTCAAAAAGAAAAGAAAAGAAAAGTGAGGCTCAGAGAAGCGAAGTGACTTGTAGCAGATATGTGACCTCAGCCCTCCCTCCAGCTGCCTCCACACGGGCAGGGCCGGGGCCTCTCTTACCTGCTTTCTCCCCTTCTCGGTCCAGCAAGTGCTCTCAGAAGAGGAGATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGTAGGTTGGGGCATGGCAGGTTGGGAGGGGCCTGTGAGGGGCAGCCCTCTCCTGGGGCAGGTGCCACCTCCTCTCTCTCCCCAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACGTGAGTCCCCGCGGGGCTGTCCCACCACCCCACCATTTCTTCCACATCAGAATCCAGGCTCCTGCTCACACATTGAGCTGAACCTCATCCCTTGGTCTGCATGAGTCGGGGAATCCTCCAGTTTTTCTGAGCCCAGTTCCCTGCCATTTCCATCCCATACTCCTCCTCCTGACCTGCCATCCTGATAATCCCTGTGCTCGGGTGCTGTGCCTTTGTGGGATTAGCAGCGCAGCCTGGCCAGGCACAGTGGCTCACACCTGTAGTCCCAACACTCTGGGAGGCCGAGGCAGGAGTCGCTTCAGCCCAGGAGTTCAACACCAGCCTGGACAATATGGAGAGACCCTGTCTCTGCAAAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGG
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CGTGCACAGGGACGTGCTGAGGAGGCTTGGGGGCCAATTGGCTCTGCCCCGCCCTGCCTCTGATCCCCGCCTCCTCACCTGCCCGCAGCCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGGCTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTGCTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACTATTGGCTTCGCGGTCTACGAGGTCAGGAGGGTGGATCACCGGTGGATCTCACTGAGCAGGCAGAGGACCTGGCGCCCCCGACCCGCAGTGCAGGCGGGCTTCCACCAGGGGGCGCCAGGGACCATGCCCTTCCCCACAAATTCCCCTCCACTCCCCCCACCATCCTGAGGGCTGGGAAATCTCAGCCTCCAGGAGGCACCTGCTGAGGCCCTCTGGCCGAAAGAGAGGAAGGGGGTTGGCTCAGGGAAGGGAGATTCTGGGATTCACCTCACGCTTAGAGGGCGGCCTGCTGCTCTTGGAGGAGGGAGCTGGCTCAGCTGATGCCTGGGAGTACTGAGCCCTCCGTCTTGGAAGCTGTGAGCAGAAGCTGGCAGGGGAAAGATAGGGGATAGGGAGGGCCTGTCGGCCAAGGTGAGGCTGTGCCAGTCGCTCTGGGATTAGAACTCCTTGCTCTTGCCCTGTATCTGCCCTGCTTCACACACTGCCCTCAAGACAGGGAGAGAAACTTCTGGACCTCCCTGGTCGCAGTCTTGGCCCACACCCAAACCCCCTGGCAGCAGCCTGCGGTGGCCCTTTCCTGTCCCTGGGCTTTGGAACATTGCAGTTGGCCACCCCGGGGGCTGGCCTGGAGCCTCTGACTCAGAATGGAGTCCTAGGGCAAGCATTCCCAGGACCAAGAGGACCCTGCCTGAGCCCTCCCTCCTGGGGCCCTGCTGTGGTGCAGGGACCAGATCTGGGTCCCCAGGGCCCTGCCTTCTGCCTCCTTATCCCATCAGTCCCGTCTAAGAACTCAAGACCTCTGCCCAGCATGCACTGTGACCCCGCCCTGGGACAAACACACATCTCTGACTTCCCCTGTCTCTCTATTGCAGGTCCCTCCGGAGGTAGGTGTGGCACCATGACCCACCTGCAGTCACACACCCCTGATGGTGCCAGAGGGGAGCAACCCAGTGGCAAACCCACCCTGGCCTGGAGAGCTAAGAAGTCACCTTGTTTCACTGCTTGAAAAATGCTTCTCCCCACCTGTTCAGTGGGCAGAGCAAACATTGCTCTCCTGAGGGTCAGCACAGGTAGTCAGTGAGGGAGCTGGATTTGAGCCCTGGTCCTCAGAGCCCCTGTCTGACATGTACACATGAGGCTTTTCCTGCCTTGCCATCTACACCAAGTAAGTGCCAACTAGGGCGGTCCAGCAATGTCAGGAGCAGGGCATTAGACAGGCTGAGAGTTCTGTACCCTTGAGCAGTTGCTTAAGCTCCGAGCCTGTGTTTGTGTCTGTAAAATGGGTGTAACAGCAGAACAGCAAATGAGGTGCCGAGTACCCTGCAGTACCTGACCTGGGGAAAGCTCCCAGTGATAATAATGACAGTGTTATTGAAACACATGCCTAATCTGCAATCCGGTGCTCCTCTCCTCTACCCTCTGCAGTGAGTAGGGTTGTTACATTTTACAGATGAGGAAACTGAGGCAAAATGTCTTGTTAGGGTCACACAGGCTGTGAGTGAGCCATGCCCCAGCTCTCCAGCCCCTTGGCCAGGACAAGGAGCCTGGAGTCTGGGTCTGGGGGTGGCCCCTGAGGGTGGGCTGAGTGGGCAGCTGCAGCCCTGCTCCCTCCTCCCTCCCACCAGCTGGTGGGCCAGCCGGCCGTACACTTGAAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTGCGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACCTTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGTGCTTCTTCTCAGAGAAGAGTGCTGGGACTGTGTGAGTCATGGACTGGCCCCTGCCACTCTCCCCTCTCCCAGCCTCCCCTCTCAGGCCCTCTGCTGTCCCCCTCTGACTGGCTCCTTTCCTCCCCACTCTCTGCAGGGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAGGTGCGTGGTCCCACCCCACCAGGCCCCGTCCTCCTCTCTTCCTCACCCCTGGGTGTGTGATGGGGACCCAGGTGTCCTGTCCCCTGAGTTCCTGCTAACAGGGAAGATCCCCTCCTGGTGGAAGCCATAGGAGTAGTGCTAATCCCTCATCCGCCCAGCACTTTACAGTTTGCAGAGGACCTGTGATACTAATGGCACAGGCCCTGAGCTCTCACCCGGTGGCGGGTTTGTGCTGAGCACTTCACCTGTGTTACCTCATTTCCTCCCCACATCAACCCTGTCCGGGTCTTGTTACCATACCTCCTCTGAATGGGAAATTCAGGTTCACAGAGGTTAGGGAACTTGCCTGAGGCCATACAGTAGGGATCCAAACTCTTGCCTTTTTTTTTTTTTTTTTTTTGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCACGTTACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATTTTGGTCAGGCTGGTTTCAAACTCCTGACTTCAAGTGATCCACCCACCTCGGCCTCACAAAGTGCTAGGATTACAGGTGTGAGCCACCGCACCTGGCCCAAACTCTTGCCTTTTACTCACTGAGCTGAACAGCATCCCCTTCATTTAGGTCACATGAGTGCTGGATATGGGGCGGGGCAGGGCAGGGCAGGAACGAGATTCCCTTTTCAGATTAGAAAAGTGAGACTCAAGCCGGGCTCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGTTGAGGCGGGCGGATAACCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCACCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATGGCTTGAGCCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGTGACAGAGTGAAACTCCATCTCAAAAAGAAAAGAAAAGAAAAGTGAGGCTCAGAGAAGCGAAGTGACTTGTAGCAGATATGTGACCTCAGCCCTCCCTCCAGCTGCCTCCACACGGGCAGGGCCGGGGCCTCTCTTACCTGCTTTCTCCCCTTCTCGGTCCAGCAAGTGCTCTCAGAAGAGGAGATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAGGTAGGTTGGGGCATGGCAGGTTGGGAGGGGCCTGTGAGGGGCAGCCCTCTCCTGGGGCAGGTGCCACCTCCTCTCTCTCCCCAGGACATGGAGATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAACGTGAGTCCCCGCGGGGCTGTCCCACCACCCCACCATTTCTTCCACATCAGAATCCAGGCTCCTGCTCACACATTGAGCTGAACCTCATCCCTTGGTCTGCATGAGTCGGGGAATCCTCCAGTTTTTCTGAGCCCAGTTCCCTGCCATTTCCATCCCATACTCCTCCTCCTGACCTGCCATCCTGATAATCCCTGTGCTCGGGTGCTGTGCCTTTGTGGGATTAGCAGCGCAGCCTGGCCAGGCACAGTGGCTCACACCTGTAGTCCCAACACTCTGGGAGGCCGAGGCAGGAGTCGCTTCAGCCCAGGAGTTCAACACCAGCCTGGACAATATGGAGAGACCCTGTCTCTGCAAAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGTTGGGAGG
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Task1_train_16078
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Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Coffin-Siris syndrome 1
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GTCTAACTCCTCAGGCCCAGCTACCAAAATAAGGGTGTCTCTTTGCTCTTCTTGGCAGGGTAAGGGTGTGGGCAGTGCCCGTAAGAAGCTGGATGCTTCCATCCTGGAGGACCGGGATAAGCCCTATGCCTGTGACAGTGAGTGCCTCACAAGTGGGTGGGTAGACCTTGCCTTGGACCCAGCTCCTGCTCTGGATATGAGAGGAGGGAGGGTTGTGTTTTTGCCCAGAGTATTAAAACAAACCTGGGCTCTTGTCCTGCCTGCTGACTGCTTCCGTCTGAGACCCCTGGGAGGCCTGGGTCCCTGCTATATGACGGGTGGGACCTGCATGCTCTGGGAAAGATTTCTGCCATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCTCGAAAGCGCCCCAGAGAGGTAGCTCTCTCAACTTTTCAGACTTGTGGTTTTCCTTTCCCTTTTTCCCTCTTCCCTTGTTCCTCCTGCCTTTCTCATTTCCTGGGATGCTAGCTTTAAAATCTCTGGAATGGCATGGGGGTAGGAGCAGTGGAATTTCTGCTGTGCTCTACTCCTCAAAGTCCTGAAGGCTGCCTTTACCACTGCTTGTTTCCCACAAACCTGCTCCTAGAGCTGCTCGGCCCAGTGCATGGGGTGGCTTCAGAAGCATTATCAGGAGCCCATTACAATCAGACCCTTCCGCTCCCTCCCCAGACCAGGCAGCTGGTGGTCAGCTCATGTTCCCCACTGCCCCACCACCTCCTCCTGCCATCCTCTCTCCCCACTCCTTTCCTGCTGGCCCCCTTGCCCTTCTTGGTATTACTTCTCAAGATGACAAAATGCCTCATGGGGATCTGCTTTCCTTGCTGATTGGCAGGCCTGGACAGGGCAATTACATGGGAGTGTGCTTGAATTTCTTTGGGGACCAACTGCCCAACTGGCTTCATTGATAGGCTATCCCCAAGAAACCCATCCCCTGCTTGTTTACCCACATTCAGGGGAGATGGGCTCCATGGTGTGTGGGGTAGCATGAGCCTCCCACATTTACTGAGGGGTAAAAAAGTTTGGAGTCTTATCCACTTTTCCCCCTTCCTGCCACCCCAAAGATATAGGAATATCCTTCCCTTTCCTGACCTGGAGCGTCCCAGACTGTTAGTATATCCCAGAGCAACTAACTGGTGATGGGGCAAGGGCTAAGCCCCCCAAAAGTCAACATGGAAGAGCAGTGGTGGCCATGGGGTTGGAGTTCAGGAGGGAAAAGAGCCCCAGAAGCTAGAGAGCCCCACGGCCTGATGCTCCTGGCTGAGGGGAAGTGGCCGTCACTCAAGGCCTGTCCCAGAGTGGAGCTGCTAGGGGAAGGGATGGTTGCCCTCTGCCTCAGGTGGAGCCCCCACAGCTTGCAGGGATGGGGACATGGCACTCTTGTATCCTAACACCTTTCTCTGCAATCTTCTTCCCACTCAGTTTGTGGAAAACGTTACAAGAACCGACCAGGCCTCAGTTACCACTATGCCCACTCCCACTTGGCTGAGGAGGAGGGCGAGGACAAGGAAGACTCTCAACCACCCACTCCTGTTTCCCAGAGGTCTGAGGAGCAGAAATGTAAGCTGAGGTGTCAGAAGTGGTGGGCAAGCAGAAGTTGGCCTGGTTATGAAAACCACTCCTTGCATGGGTGTTGAGTGGCTCAGGGACCCCCATGGGTGTCATCAAAACTCTTTCTCTCTGTAGCCAAAAAGGGTCCTGATGGATTGGCCTTGCCCAACAACTACTGTGACTTCTGCCTGGGGGACTCAAAGATTAACAAGAAGACGGGACAACCCGAGGAGCTGGTGTCCTGTTCTGACTGTGGCCGCTCAGGTACTGCTTCCCGTGAAGGCTGCTGCTTTGCCCAGTCCCCAAGGGGCTCTTGGCTTGCTGGCCTCTAGGGCTGTCATAACCAGCCCACCTCGCTTTTCCTAACCAAGAGAAGATGTAGCCACAGGCAGGAGCTCCTCTCTTCCCCCCGCATTTCCGACTGTCTGTCTCACTCACTTCCCCCACTACAGGGCATCCATCTTGCCTCCAATTTACCCCCGTGATGATGGCGGCAGTGAAGACATACCGCTGGCAGTGCATCGAGTGCAAATGTTGCAATATCTGCGGCACCTCCGAGAATGACGTGTGTATCCCCGCCCCCTCCTCAGCATGGCTCCTTCTGGGCTTTTACTGCTGTTTGCACAGTTCCCTCTAAAGTGAGCTTTCTTTTAAAAAGGGAGCAGGATCCCTCCCACATGCCACACGCCCCTCCCTAGCATCTCAGTCAGAACTCTGATTTGTTGCCAGATATATATTGAGTGCTGATTTTATGTCAGACACTGTTCTAGTCACTAAAGATGCTAAAGACAAACAAGGTCCCTGCCTCATGAGATTTACATTCTTACAGGAACAACAATAAGCAAGGATGTAAATGAGATTTGTATAATGTGCCATGAAAAAAACGAAATCAGTACTGTGGCAGAGAATAATTGCATAAGTGATTTATTTTGATGGTCAGGTATGGCTCTTCTGGGAGGGTGATGCTGGTGTTGAAATTTTGGTGATACCAAGGAGCCAGTCAAGATTTGGAGGTAGAGGAATCCCAGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTG
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GTCTAACTCCTCAGGCCCAGCTACCAAAATAAGGGTGTCTCTTTGCTCTTCTTGGCAGGGTAAGGGTGTGGGCAGTGCCCGTAAGAAGCTGGATGCTTCCATCCTGGAGGACCGGGATAAGCCCTATGCCTGTGACAGTGAGTGCCTCACAAGTGGGTGGGTAGACCTTGCCTTGGACCCAGCTCCTGCTCTGGATATGAGAGGAGGGAGGGTTGTGTTTTTGCCCAGAGTATTAAAACAAACCTGGGCTCTTGTCCTGCCTGCTGACTGCTTCCGTCTGAGACCCCTGGGAGGCCTGGGTCCCTGCTATATGACGGGTGGGACCTGCATGCTCTGGGAAAGATTTCTGCCATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCTCGAAAGCGCCCCAGAGAGGTAGCTCTCTCAACTTTTCAGACTTGTGGTTTTCCTTTCCCTTTTTCCCTCTTCCCTTGTTCCTCCTGCCTTTCTCATTTCCTGGGATGCTAGCTTTAAAATCTCTGGAATGGCATGGGGGTAGGAGCAGTGGAATTTCTGCTGTGCTCTACTCCTCAAAGTCCTGAAGGCTGCCTTTACCACTGCTTGTTTCCCACAAACCTGCTCCTAGAGCTGCTCGGCCCAGTGCATGGGGTGGCTTCAGAAGCATTATCAGGAGCCCATTACAATCAGACCCTTCCGCTCCCTCCCCAGACCAGGCAGCTGGTGGTCAGCTCATGTTCCCCACTGCCCCACCACCTCCTCCTGCCATCCTCTCTCCCCACTCCTTTCCTGCTGGCCCCCTTGCCCTTCTTGGTATTACTTCTCAAGATGACAAAATGCCTCATGGGGATCTGCTTTCCTTGCTGATTGGCAGGCCTGGACAGGGCAATTACATGGGAGTGTGCTTGAATTTCTTTGGGGACCAACTGCCCAACTGGCTTCATTGATAGGCTATCCCCAAGAAACCCATCCCCTGCTTGTTTACCCACATTCAGGGGAGATGGGCTCCATGGTGTGTGGGGTAGCATGAGCCTCCCACATTTACTGAGGGGTAAAAAAGTTTGGAGTCTTATCCACTTTTCCCCCTTCCTGCCACCCCAAAGATATAGGAATATCCTTCCCTTTCCTGACCTGGAGCGTCCCAGACTGTTAGTATATCCCAGAGCAACTAACTGGTGATGGGGCAAGGGCTAAGCCCCCCAAAAGTCAACATGGAAGAGCAGTGGTGGCCATGGGGTTGGAGTTCAGGAGGGAAAAGAGCCCCAGAAGCTAGAGAGCCCCACGGCCTGATGCTCCTGGCTGAGGGGAAGTGGCCGTCACTCAAGGCCTGTCCCAGAGTGGAGCTGCTAGGGGAAGGGATGGTTGCCCTCTGCCTCAGGTGGAGCCCCCACAGCTTGCAGGGATGGGGACATGGCACTCTTGTATCCTAACACCTTTCTCTGCAATCTTCTTCCCACTCAGTTTGTGGAAAACGTTACAAGAACCGACCAGGCCTCAGTTACCACTATGCCCACTCCCACTTGGCTGAGGAGGAGGGCGAGGACAAGGAAGACTCTCAACCACCCACTCCTGTTTCCCAGAGGTCTGAGGAGCAGAAATGTAAGCTGAGGTGTCAGAAGTGGTGGGCAAGCAGAAGTTGGCCTGGTTATGAAAACCACTCCTTGCATGGGTGTTGAGTGGCTCAGGGACCCCCATGGGTGTCATCAAAACTCTTTCTCTCTGTAGCCAAAAAGGGTCCTGATGGATTGGCCTTGCCCAACAACTACTGTGACTTCTTCCTGGGGGACTCAAAGATTAACAAGAAGACGGGACAACCCGAGGAGCTGGTGTCCTGTTCTGACTGTGGCCGCTCAGGTACTGCTTCCCGTGAAGGCTGCTGCTTTGCCCAGTCCCCAAGGGGCTCTTGGCTTGCTGGCCTCTAGGGCTGTCATAACCAGCCCACCTCGCTTTTCCTAACCAAGAGAAGATGTAGCCACAGGCAGGAGCTCCTCTCTTCCCCCCGCATTTCCGACTGTCTGTCTCACTCACTTCCCCCACTACAGGGCATCCATCTTGCCTCCAATTTACCCCCGTGATGATGGCGGCAGTGAAGACATACCGCTGGCAGTGCATCGAGTGCAAATGTTGCAATATCTGCGGCACCTCCGAGAATGACGTGTGTATCCCCGCCCCCTCCTCAGCATGGCTCCTTCTGGGCTTTTACTGCTGTTTGCACAGTTCCCTCTAAAGTGAGCTTTCTTTTAAAAAGGGAGCAGGATCCCTCCCACATGCCACACGCCCCTCCCTAGCATCTCAGTCAGAACTCTGATTTGTTGCCAGATATATATTGAGTGCTGATTTTATGTCAGACACTGTTCTAGTCACTAAAGATGCTAAAGACAAACAAGGTCCCTGCCTCATGAGATTTACATTCTTACAGGAACAACAATAAGCAAGGATGTAAATGAGATTTGTATAATGTGCCATGAAAAAAACGAAATCAGTACTGTGGCAGAGAATAATTGCATAAGTGATTTATTTTGATGGTCAGGTATGGCTCTTCTGGGAGGGTGATGCTGGTGTTGAAATTTTGGTGATACCAAGGAGCCAGTCAAGATTTGGAGGTAGAGGAATCCCAGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTG
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Task1_train_16079
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Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Coffin-Siris syndrome 7
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ATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCTCGAAAGCGCCCCAGAGAGGTAGCTCTCTCAACTTTTCAGACTTGTGGTTTTCCTTTCCCTTTTTCCCTCTTCCCTTGTTCCTCCTGCCTTTCTCATTTCCTGGGATGCTAGCTTTAAAATCTCTGGAATGGCATGGGGGTAGGAGCAGTGGAATTTCTGCTGTGCTCTACTCCTCAAAGTCCTGAAGGCTGCCTTTACCACTGCTTGTTTCCCACAAACCTGCTCCTAGAGCTGCTCGGCCCAGTGCATGGGGTGGCTTCAGAAGCATTATCAGGAGCCCATTACAATCAGACCCTTCCGCTCCCTCCCCAGACCAGGCAGCTGGTGGTCAGCTCATGTTCCCCACTGCCCCACCACCTCCTCCTGCCATCCTCTCTCCCCACTCCTTTCCTGCTGGCCCCCTTGCCCTTCTTGGTATTACTTCTCAAGATGACAAAATGCCTCATGGGGATCTGCTTTCCTTGCTGATTGGCAGGCCTGGACAGGGCAATTACATGGGAGTGTGCTTGAATTTCTTTGGGGACCAACTGCCCAACTGGCTTCATTGATAGGCTATCCCCAAGAAACCCATCCCCTGCTTGTTTACCCACATTCAGGGGAGATGGGCTCCATGGTGTGTGGGGTAGCATGAGCCTCCCACATTTACTGAGGGGTAAAAAAGTTTGGAGTCTTATCCACTTTTCCCCCTTCCTGCCACCCCAAAGATATAGGAATATCCTTCCCTTTCCTGACCTGGAGCGTCCCAGACTGTTAGTATATCCCAGAGCAACTAACTGGTGATGGGGCAAGGGCTAAGCCCCCCAAAAGTCAACATGGAAGAGCAGTGGTGGCCATGGGGTTGGAGTTCAGGAGGGAAAAGAGCCCCAGAAGCTAGAGAGCCCCACGGCCTGATGCTCCTGGCTGAGGGGAAGTGGCCGTCACTCAAGGCCTGTCCCAGAGTGGAGCTGCTAGGGGAAGGGATGGTTGCCCTCTGCCTCAGGTGGAGCCCCCACAGCTTGCAGGGATGGGGACATGGCACTCTTGTATCCTAACACCTTTCTCTGCAATCTTCTTCCCACTCAGTTTGTGGAAAACGTTACAAGAACCGACCAGGCCTCAGTTACCACTATGCCCACTCCCACTTGGCTGAGGAGGAGGGCGAGGACAAGGAAGACTCTCAACCACCCACTCCTGTTTCCCAGAGGTCTGAGGAGCAGAAATGTAAGCTGAGGTGTCAGAAGTGGTGGGCAAGCAGAAGTTGGCCTGGTTATGAAAACCACTCCTTGCATGGGTGTTGAGTGGCTCAGGGACCCCCATGGGTGTCATCAAAACTCTTTCTCTCTGTAGCCAAAAAGGGTCCTGATGGATTGGCCTTGCCCAACAACTACTGTGACTTCTGCCTGGGGGACTCAAAGATTAACAAGAAGACGGGACAACCCGAGGAGCTGGTGTCCTGTTCTGACTGTGGCCGCTCAGGTACTGCTTCCCGTGAAGGCTGCTGCTTTGCCCAGTCCCCAAGGGGCTCTTGGCTTGCTGGCCTCTAGGGCTGTCATAACCAGCCCACCTCGCTTTTCCTAACCAAGAGAAGATGTAGCCACAGGCAGGAGCTCCTCTCTTCCCCCCGCATTTCCGACTGTCTGTCTCACTCACTTCCCCCACTACAGGGCATCCATCTTGCCTCCAATTTACCCCCGTGATGATGGCGGCAGTGAAGACATACCGCTGGCAGTGCATCGAGTGCAAATGTTGCAATATCTGCGGCACCTCCGAGAATGACGTGTGTATCCCCGCCCCCTCCTCAGCATGGCTCCTTCTGGGCTTTTACTGCTGTTTGCACAGTTCCCTCTAAAGTGAGCTTTCTTTTAAAAAGGGAGCAGGATCCCTCCCACATGCCACACGCCCCTCCCTAGCATCTCAGTCAGAACTCTGATTTGTTGCCAGATATATATTGAGTGCTGATTTTATGTCAGACACTGTTCTAGTCACTAAAGATGCTAAAGACAAACAAGGTCCCTGCCTCATGAGATTTACATTCTTACAGGAACAACAATAAGCAAGGATGTAAATGAGATTTGTATAATGTGCCATGAAAAAAACGAAATCAGTACTGTGGCAGAGAATAATTGCATAAGTGATTTATTTTGATGGTCAGGTATGGCTCTTCTGGGAGGGTGATGCTGGTGTTGAAATTTTGGTGATACCAAGGAGCCAGTCAAGATTTGGAGGTAGAGGAATCCCAGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAG
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ATCCTCTGGGGTAGGGTTGCTTGTGGGGGCCACAGCAGGCAGGGTTGGCCTCTCAACAGATGGCCTGCAGGTCTCCTGGCCTCAGTTAAGCCAGGGCCCCAGGGGTCTGACACTGAGTTTTTCAACGTCTGTTCTCTTTTTCTTTCTGTCTGCCTTGCCCCACTTCTGTCCCTCCACCCTGGGAGCACCATCGCCGCTGGGGTTTCTCTCTCGTTTGCTCTGCTTTCCTGCTGCTGCTGCTCCTGTCTCAAGTGTATCAAGGCCTTCTTCTCATGACTTTTCTTTCTGTCTTTCAGATAGTTTCAAACAAAAGCATACCTCGAAAGCGCCCCAGAGAGGTAGCTCTCTCAACTTTTCAGACTTGTGGTTTTCCTTTCCCTTTTTCCCTCTTCCCTTGTTCCTCCTGCCTTTCTCATTTCCTGGGATGCTAGCTTTAAAATCTCTGGAATGGCATGGGGGTAGGAGCAGTGGAATTTCTGCTGTGCTCTACTCCTCAAAGTCCTGAAGGCTGCCTTTACCACTGCTTGTTTCCCACAAACCTGCTCCTAGAGCTGCTCGGCCCAGTGCATGGGGTGGCTTCAGAAGCATTATCAGGAGCCCATTACAATCAGACCCTTCCGCTCCCTCCCCAGACCAGGCAGCTGGTGGTCAGCTCATGTTCCCCACTGCCCCACCACCTCCTCCTGCCATCCTCTCTCCCCACTCCTTTCCTGCTGGCCCCCTTGCCCTTCTTGGTATTACTTCTCAAGATGACAAAATGCCTCATGGGGATCTGCTTTCCTTGCTGATTGGCAGGCCTGGACAGGGCAATTACATGGGAGTGTGCTTGAATTTCTTTGGGGACCAACTGCCCAACTGGCTTCATTGATAGGCTATCCCCAAGAAACCCATCCCCTGCTTGTTTACCCACATTCAGGGGAGATGGGCTCCATGGTGTGTGGGGTAGCATGAGCCTCCCACATTTACTGAGGGGTAAAAAAGTTTGGAGTCTTATCCACTTTTCCCCCTTCCTGCCACCCCAAAGATATAGGAATATCCTTCCCTTTCCTGACCTGGAGCGTCCCAGACTGTTAGTATATCCCAGAGCAACTAACTGGTGATGGGGCAAGGGCTAAGCCCCCCAAAAGTCAACATGGAAGAGCAGTGGTGGCCATGGGGTTGGAGTTCAGGAGGGAAAAGAGCCCCAGAAGCTAGAGAGCCCCACGGCCTGATGCTCCTGGCTGAGGGGAAGTGGCCGTCACTCAAGGCCTGTCCCAGAGTGGAGCTGCTAGGGGAAGGGATGGTTGCCCTCTGCCTCAGGTGGAGCCCCCACAGCTTGCAGGGATGGGGACATGGCACTCTTGTATCCTAACACCTTTCTCTGCAATCTTCTTCCCACTCAGTTTGTGGAAAACGTTACAAGAACCGACCAGGCCTCAGTTACCACTATGCCCACTCCCACTTGGCTGAGGAGGAGGGCGAGGACAAGGAAGACTCTCAACCACCCACTCCTGTTTCCCAGAGGTCTGAGGAGCAGAAATGTAAGCTGAGGTGTCAGAAGTGGTGGGCAAGCAGAAGTTGGCCTGGTTATGAAAACCACTCCTTGCATGGGTGTTGAGTGGCTCAGGGACCCCCATGGGTGTCATCAAAACTCTTTCTCTCTGTAGCCAAAAAGGGTCCTGATGGATTGGCCTTGCCCAACAACTACTGTGACTTCTGCCTGGGGGACTCAAAGATTAACAAGAAGACGGGACAACCCGAGGAGCTGGTGTCCTGTTCTGACTGTGGCCGCTCAGGTACTGCTTCCCGTGAAGGCTGCTGCTTTGCCCAGTCCCCAAGGGGCTCTTGGCTTGCTGGCCTCTAGGGCTGTCATAACCAGCCCACCTCGCTTTTCCTAACCAAGAGAAGATGTAGCCACAGGCAGGAGCTCCTCTCTTCCCCCCGCATTTCCGACTGTCTGTCTCACTCACTTCCCCCACTACAGGGCATCCATCTTGCCTCCAATTTACCCCCGTGATGATGGCGGCAGTGAAGACATACCGCTGGCAGTGCATCGAGTGCAAATGTTGGAATATCTGCGGCACCTCCGAGAATGACGTGTGTATCCCCGCCCCCTCCTCAGCATGGCTCCTTCTGGGCTTTTACTGCTGTTTGCACAGTTCCCTCTAAAGTGAGCTTTCTTTTAAAAAGGGAGCAGGATCCCTCCCACATGCCACACGCCCCTCCCTAGCATCTCAGTCAGAACTCTGATTTGTTGCCAGATATATATTGAGTGCTGATTTTATGTCAGACACTGTTCTAGTCACTAAAGATGCTAAAGACAAACAAGGTCCCTGCCTCATGAGATTTACATTCTTACAGGAACAACAATAAGCAAGGATGTAAATGAGATTTGTATAATGTGCCATGAAAAAAACGAAATCAGTACTGTGGCAGAGAATAATTGCATAAGTGATTTATTTTGATGGTCAGGTATGGCTCTTCTGGGAGGGTGATGCTGGTGTTGAAATTTTGGTGATACCAAGGAGCCAGTCAAGATTTGGAGGTAGAGGAATCCCAGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAG
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Task1_train_16080
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The variant affects gene DPF2 (double PHD fingers 2), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Coffin-Siris syndrome 7
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AGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGT
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AGGAAAGGAGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGGTGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGT
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Task1_train_16081
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A sequence alteration has been identified in DPF2 (double PHD fingers 2) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; not provided
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AGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGTTAGAGTAA
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AGCAGCCAGCGCCAAGGCCTTATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGATGACTGCAATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGTTAGAGTAA
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Task1_train_16082
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Here is a variant affecting DPF2 (double PHD fingers 2) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Coffin-Siris syndrome 7
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ATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACTGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGTTAGAGTAAGCTGAGATCACACTGCTGTAC
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ATGTTGGACAAGCCAGATGACAGGGCATGGGAGAGTATGGTGGGCAATGAGATGAGAGAGGCAAGCACTGCCAGATCTCTGGGGCCTCGGGTTTTATTCTAGGTACAACAGGACACTGTTGAAGGGTTTTACTCGGGAAGTGACATGGTTATTTATGTATTTATTTATTTACTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACACGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGCTGGTATCGAACTCCTGACCTCCGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCTATTTATTTATTCTTTATGTATTTATTTATTTATTTTGAGACAGAGTCTCTCTGTCATCCAGGCTGGAGTGCAGTGACGCGATCTTAGCTCACTAAAACCTTTCCCTTCAGGCTCAAGCAGTACAATCCTCCCACCTCAGCCTCCCGGGTAGCTGGGACCACAGATGCACACCACCATGTCTGGCTACTTTTTTATATTTTTGGTAGAGACAGGGTCTTGCCATATTGCTGAGCTGGTCTCAAACTCCTGAGCTCAAGCAGTCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAACCCACCATGTCTGGCCTTGTCTTATATTTTATTTTATATTTATTTATTTATTTCAAGATGGAGTTTTACTCTTGTCATCCAGGCTGGAGTACAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTTTTCAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAATGCTGGTATTACAGGTGTGAGCCACCGTGCTTGGCCCTTGTCTTATATTTTAAAAAGATGACTTTGGGTGCCGTGTGGAGGGTAGACTGTAGGGACAAGGATGGAGGCTCATGCCTGTAATCCTAACACTTGAGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAATTCAAGACCAGCCTGAGCAACATAGGGAGATCCTGTCTCCACAAAAAAAATAAACACTTAGCCAGGTGTGGTGGCACACACGTTAGTCCCAGCTACTTGGCAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCACACCACCGCACTCTAGCCTGGGCAACAAAGCAAGACCTTGTCTCAAAAAGAAATAGTCACTGGGCACGGCGTCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGATTTCAGGACCAGCCTGGGCAACGTAAGGAGATCTTGTCTCTCCAAAAACATTGAAAAATTAGCTAGGTGTGGTGGTGTGTGCCTATAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACTTGGGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGAGTGACAGCAATACCCTGTCTCAAAAAAATATACCATAGAGCTTGGGCTTTAGGGAAAAAAAAAAAAAAAAAAAAGTGGAGGTGATTTGATCAATTAGGAGCTCTGAAAGGACCCAAGTGAGAAATGACAGTGACTGGATCTGCGGTGGAGAGGGGCAGCATGGTTTCCCACATAAGATTCTCACATCTGTTCTTACCTGCTACCTACCCCTCTTGGAAATAGCAGTGTCCTGTAGTGGCCTGAGGCACATCAGTTATTCAGTCCCCATCCTCTTCCCTCTTGCCTACTTCAGGACCAGTTGCTCTTCTGTGATGACTGCGATCGTGGCTACCACATGTACGGTCTCACCCCGTCCATGTCTGAGCCCCCTGAAGGTAAGTTGCCCAGATCTTTTACTCAGAACAATTACTTTATTAGTTACTTGGAAAATACTGAGTTCTATGTTCTTTATGTTATCACTTACATATTCTTCCAAATTAGGGAGTAAAGCACCTTGCCTTGGCTCAGTTTAGAATGCCTTCCTAACATTTCAACTTAAAGGGTTTAGTGTTTGCACATTATCAGCTACATTTACAACAGAAAATCAACAGCCCAGAAGAAAGCAGATGCTGAGCCGAGATCAGGCACCCAGAAGGAATGATTTATTTTCTTCCAACCAGTCCAGAAAACTCAAGTGGTAGATTATCTGATGTGAAACTTCTGCAGTCAACTCTTGAAATTTGATAGATTTGAGCATTTATTTCCTATCCCTTCCCCTTCTGAACTGGGAAGGGACTTGACTTTGGAGCCTGAATGGGTCAGTCTGCTTCTCCGATAACTTACTGTAATAATGGTCCAAATTTATTAAAGCTATTCACTGAAACCAGTGGTGGCACCAAGAATTGGTTGCATCTCCACAAGTCCCCTTCCAGCTGGATTTCTGTACATAAACACCTCCTGTACAGAAATTGAGTAGCAGCTGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGACATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAACCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAAAAAGCCAACAGAAATTCAGTAGCTTACTCAGAACACAAATGCCCAGGAGCTGTTACTGTGCACAAAGGATGTGGGCCAGCATTACAGGCAAGAGAAAGTGTTTCATTGTGTGATGTAAGCTGACTTGTAACATATCGGTCAAACTGCTGTCACCCCTCTAGAGAATGAGGCCCCTGACAATGTCTAAGAGTCCTTTAGCAGCTGTAGGGGAGTACTCAGCTTCTGTCAGGCCCAGTTTATGAATCTGCTTTGGGGAGAAGTCGCATGTTTATGTTTTGTTTTGTTTTGTTTTTTTAAACCATCAAACAGATGATCTATGTTACAGAATGGCTTTCCTATTAAAGTTCTGTGGGACATCGAGGTAGTGGAGAGCTGCAGGCCCGAGTGTCCTCACTGTAGTGTTAAGGCAGCTGAGGGGCAACCCCTAGAAGTATCAGATGTTCTAGGTCAGGGTCAGCAAGCTACAAGCTAAAACCTATGGACCACATCCAGCCACAGCCAGCTTAAATAGCTTGCAAGCTGTTTTGTTTTCTTTTCTTTTCTCTTTTTCTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTGAGACAGTGTCTTGTTCTGTTGCCCATGTTGGAGTGGAGTGGCATGATCTCAGCTCACTGCAACCTCTGCTTCCCCGGGCTCAGGTAATCTGGTAATCCTCCCACCTCAGCCTCCTGAGTACCTGGGACTACAGGCATGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGGTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACTGCATCTAGCCTGAAGAAAATCCCCTTAAAAATATAAAAACTGGCTGTGCACTGTGGCTCGCATCTGTAATCCCAGCACTTTGGGATCTCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAGCATGGCAAAACCCCATCTTTACTAAAAATAGAGAAATTAGCTGGGCGTGGTGCTGTGCGCTTGTAATCTCAGCTACTATAGAGGCTGAGGCAAGAGAATTGCTTGAATCTGGGAGGCAGAGGTTAGAGTAAGCTGAGATCACACTGCTGTAC
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Task1_train_16083
|
The gene SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; CALFAN syndrome
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AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCCGGGCAGCTGAGCCCAGGAGAGCAGGGTCCCCTCCCAGCCCTTTGGCCTCTTCCAGACCTGCCCAGTTGCTCCTTCTCCCTCCCTCCTTTCCTGGGGTCACTTCTTCTTCCCTCCTCAGTCTCTCCTTCCTCCATTCCCTGGGTGCCCGCCCCTGCCCCGGGGTTCTGGACCTCCTTGGAACCTTGGATTCACTCTCTGCCTCTCACCCACGCTCTTTCTCTGGGGCGTCTCCTCGTGCTTCTCTCATGGTCACTTCACCAGGACCGACTCCTCCCCGGAGCCTGGAGGCACCCACTTGCTGGTGGGAGAGAGTGTCTGGCGTGGGGCCAGTCTCCCTCTCTGGGTCTCTGCCTCACTCCTCACTGCACCCTCTCATGCCTGTCAGTCTTTCTACCTCTCCCCCTTTTTGCCTCGGTTTCCCCATCCCTCTGTCCCTTCTTAAGCTCTCATCCTTACAGTACGCTAGAAGGCAGGCTCTATTATCCTTTAGGATTTAGGCCTCTTTAGATAAAAGGGCTCACAGGCTTGGAGGGTTTTAAGTGACTTACCCGGCGGCGGAGTACTGATCTTAGTACCGCCCGCCGCCCCGGACTGCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCTCCCGCCCCTCCCTTGTCCCCGCCCCTTCCCGCCCCAACTCAGGTTCTGCCCCACCCCGCCCCAATTCACGTCCTGCTCCGCCCCGACGTAGGCCCCGCCCTGGCCCCCGGGCCCCGCCCCCGTCTGACGCAGGCCCCGCCCCCTCTCCGCCCCGCCCCGGCTCGGGCGGCCGGAGGACCCGGAGCTAAGGCGCCCGAACCCGCGGCGGCGGTGGGGACGATGTGGTTCTTTGCCCGGGACCCGGTCCGGGACTTTCCGTTCGAGCTCATCCCGGAGCCCCCAGAGGGCGGCCTGCCCGGGCCCTGGGCCCTGCACCGCGGCCGCAAGAAGGTGAGTGCGGCCGAGCTCCGTAGGCCGCGGTCGACCTGGGCCTTGCCTATTCCGCGCCGCCGACCCCGTCGCGTTGCGCCCGGCCTGACGTGGCGGCGGAACCAAGGGGTAGCAGGCCGGGGAGGGGGCGGGCAGTGCCTACGTGGCGGGCGGAGGGACCGAGGGACCGACAGGCGGACAGGGCCGGGGTCACGTGGGCCCGGCGAAGTGTCCCTAAGGCTGACCTGGGGAGAGACCTGGCTGCGGGCCCTTGTCTTCCGGCCACACAACAGCTCTGGGACCATCTCAGGCCCCGCTGCCCTCCCCTAGGCCACAGGCAGCCCCGTGTCCATCTTCGTCTATGATGTGAAGCCTGGCGCGGAAGAGCAGACCCAGGTGGCCAAAGCTGCCTTCAAGCGCTTCAAAACTCTACGGCACCCCAACATCCTGGCTTACATCGATGGACTGGAGGTACCTGCTGCCTTGCCTGCCCGTCTCTGCCCCTCACGATGTCCTGGTTACCCACTCCTGTCTCCCCTCCTGCCCTGTTTCCACCCTATGTGCCCCAGCACCCCCAGATTTGGTTTCCTCTTCCCCATCTCTCCCAACTTCAAGTCGCTTATCTCTCCTTCCTCTCTGCCCCTCCGCCCTTGATAACCCTGTGTCCCCTTCCCCAGACAGAAAAATGCCTCCACGTCGTGACAGAGGCTGTGACCCCGTTGGGAATATACCTCAAGGCGAGAGTGGAGGCTGGTGGCCTGAAGGAGCTGGAGATCTCCTGGGGGCTACACCAGATCGTGGTGAGGTGGGGGGCAGTGGTGATGAGAGCAGGGATGGGGGGTTGCAGGTGCTGGGGCGTGATGGCTCCTTTTGCCCCCAGAAAGCCCTCAGCTTCCTGGTCAACGACTGCAGCCTCATCCACAACAATGTCTGCATGGCCGCCGTGTTCGTGGACCGAGCTGGCGAGTGGAAGCTTGGGGGCCTGGACTACATGTATTCGGCCCAGGGCAACGGTGGGGGACCTCCCCGCAAGGGGATCCCCGAGCTTGAGCAGTATGACCCCCCGGAGTTGGCTGACAGCAGTGGCAGAGTGGTCAGAGAGAAGTGGTGGGTGACTGGGGGCAGCGCGCCCCAACCTGCCCTGTCCTGGAGGCCCCTGCAGCCTCAGGACTCCTAGACTAGTTGGCACTCCCCTGTTCCCTGCTGCCTGGCTGGGGAGGGAATCAGTGTCCCAGGAGTGAGGGACACTCCTCTGCCCCCAGGGTCCTCAGGGCGGTAGGGCGGGATGGACACAGCATTCGGGGTTGGGTGATTCTGAACTTGAAAGCTCTGTGACCTGGACAGATGTGCCTAGTTCTCTGAGGCTTGGTTTTTTTAATCTGTTAAGTGAGGCTAATGAAACCTGCCTCTTGGGACTGATGGCTCAGCTGAGGGACATAGCCAGGCCCTGGCATGCAGTGGGTGCCTGGTGCCCAAGGCAGGCTGGAGGCCTGTGCAGGTGGTTGGTGGGGCCCTAAGAGCTCTGGGTCACTGCCACAGGTCAGCAGACATGTGGCGCTTGGGCTGCCTCATTTGGGAAGTCTTCAATGGGCCCCTACCTCGGGCAGCAGCCCTACGCAACCCTGGGAAGGTAAGTTTCTTGCCCCTGGCTCTTTGCCCTGCCTCAGCCCCTCTGCCAGCTGGCTACCCCTGCCCTGACACTGACCCCTCCCCTACAGATCCCCAAAACGCTGGTGCCCCATTACTGTGAGCTGGTGGGAGCAAACCCCAAGGTGCGTCCCAACCCAGCCCGCTTCCTGCAGAACTGCCGGGCACCTGGTGGCTTCATGAGCAACCGCTTTGTAGAAACCAACCTCTTCCTGGAGGAGATTCAGGTGAGCCCCCAACCCACCCTGGGCTTCGACCCTATCTTTTTCATTCTGCCCCTACCCTGCTTTTCAGGGTACCTCACAATTGACCCTCAGGAGACAAGCATGGACTGTGGAGTTAGGCCAATCCGGGTTCAAACCCAGGCTCCAGCTCATACTTACTCTGTGACTTCCCTTGGCTGAAGTTCAGTCCCAATAATAGTACAGGTTGAGCATCCCTAATCCGAAAATGCATGATCTACTCCAACACTGGAAACTTTTTGACCACCAACATTACAATCCAAGGAAATGCCCATTAGAGCATTTTGCATTTCAGATTTTTTTGGATTACAGATGTTAAATTGGAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAATTCGACACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATCAGCTGGGCGGGCATCTGTAATCCCAGCTACTCCAGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCGACAGTGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAGATGTTGAATTGGTATAATGCACATATTCCAAAATCCAAAAAACATCTGAAATCTGAAACACTTCTGGTCCCAAACATTTTGGACAAGGGAGACTCAACCTGTACCTACTTCAAAGGGACCCAGTGAGGAGTCAGAATTGAAAATGTGTGGTATAGTGTTCTGTGCCCAGCAGGCATTTAGGGCCAGCTCTGGTTACTCCAGTCACTCCACGTGTACATTCTGGCTCTGGTCCCCAGGGGTGTAACACCCTGTACTGGCTGCAGGGGGGTGGGCAGCA
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AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCCGGGCAGCTGAGCCCAGGAGAGCAGGGTCCCCTCCCAGCCCTTTGGCCTCTTCCAGACCTGCCCAGTTGCTCCTTCTCCCTCCCTCCTTTCCTGGGGTCACTTCTTCTTCCCTCCTCAGTCTCTCCTTCCTCCATTCCCTGGGTGCCCGCCCCTGCCCCGGGGTTCTGGACCTCCTTGGAACCTTGGATTCACTCTCTGCCTCTCACCCACGCTCTTTCTCTGGGGCGTCTCCTCGTGCTTCTCTCATGGTCACTTCACCAGGACCGACTCCTCCCCGGAGCCTGGAGGCACCCACTTGCTGGTGGGAGAGAGTGTCTGGCGTGGGGCCAGTCTCCCTCTCTGGGTCTCTGCCTCACTCCTCACTGCACCCTCTCATGCCTGTCAGTCTTTCTACCTCTCCCCCTTTTTGCCTCGGTTTCCCCATCCCTCTGTCCCTTCTTAAGCTCTCATCCTTACAGTACGCTAGAAGGCAGGCTCTATTATCCTTTAGGATTTAGGCCTCTTTAGATAAAAGGGCTCACAGGCTTGGAGGGTTTTAAGTGACTTACCCGGCGGCGGAGTACTGATCTTAGTACCGCCCGCCGCCCCGGACTGCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCTCCCGCCCCTCCCTTGTCCCCGCCCCTTCCCGCCCCAACTCAGGTTCTGCCCCACCCCGCCCCAATTCACGTCCTGCTCCGCCCCGACGTAGGCCCCGCCCTGGCCCCCGGGCCCCGCCCCCGTCTGACGCAGGCCCCGCCCCCTCTCCGCCCCGCCCCGGCTCGGGCGGCCGGAGGACCCGGAGCTAAGGCGCCCGAACCCGCGGCGGCGGTGGGGACGATGTGGTTCTTTGCCCGGGACCCGGTCCGGGACTTTCCGTTCGAGCTCATCCCGGAGCCCCCAGAGGGCGGCCTGCCCGGGCCCTGGGCCCTGCACCGCGGCCGCAAGAAGGTGAGTGCGGCCGAGCTCCGTAGGCCGCGGTCGACCTGGGCCTTGCCTATTCCGCGCCGCCGACCCCGTCGCGTTGCGCCCGGCCTGACGTGGCGGCGGAACCAAGGGGTAGCAGGCCGGGGAGGGGGCGGGCAGTGCCTACGTGGCGGGCGGAGGGACCGAGGGACCGACAGGCGGACAGGGCCGGGGTCACGTGGGCCCGGCGAAGTGTCCCTAAGGCTGACCTGGGGAGAGACCTGGCTGCGGGCCCTTGTCTTCCGGCCACACAACAGCTCTGGGACCATCTCAGGCCCCGCTGCCCTCCCCTAGGCCACAGGCAGCCCCGTGTCCATCTTCGTCTATGATGTGAAGCCTGGCGCGGAAGAGCAGACCCAGGTGGCCAAAGCTGCCTTCAAGCGCTTCAAAACTCTACGGCACCCCAACATCCTGGCTTACATCGATGGACTGGAGGTACCTGCTGCCTTGCCTGCCCGTCTCTGCCCCTCACGATGTCCTGGTTACCCACTCCTGTCTCCCCTCCTGCCCTGTTTCCACCCTATGTGCCCCAGCACCCCCAGATTTGGTTTCCTCTTCCCCATCTCTCCCAACTTCAAGTCGCTTATCTCTCCTTCCTCTCTGCCCCTCCGCCCTTGATAACCCTGTGTCCCCTTCCCCAGACAGAAAAATGCCTCCACGTCGTGACAGAGGCTGTGACCCCGTTGGGAATATACCTCAAGGTGAGAGTGGAGGCTGGTGGCCTGAAGGAGCTGGAGATCTCCTGGGGGCTACACCAGATCGTGGTGAGGTGGGGGGCAGTGGTGATGAGAGCAGGGATGGGGGGTTGCAGGTGCTGGGGCGTGATGGCTCCTTTTGCCCCCAGAAAGCCCTCAGCTTCCTGGTCAACGACTGCAGCCTCATCCACAACAATGTCTGCATGGCCGCCGTGTTCGTGGACCGAGCTGGCGAGTGGAAGCTTGGGGGCCTGGACTACATGTATTCGGCCCAGGGCAACGGTGGGGGACCTCCCCGCAAGGGGATCCCCGAGCTTGAGCAGTATGACCCCCCGGAGTTGGCTGACAGCAGTGGCAGAGTGGTCAGAGAGAAGTGGTGGGTGACTGGGGGCAGCGCGCCCCAACCTGCCCTGTCCTGGAGGCCCCTGCAGCCTCAGGACTCCTAGACTAGTTGGCACTCCCCTGTTCCCTGCTGCCTGGCTGGGGAGGGAATCAGTGTCCCAGGAGTGAGGGACACTCCTCTGCCCCCAGGGTCCTCAGGGCGGTAGGGCGGGATGGACACAGCATTCGGGGTTGGGTGATTCTGAACTTGAAAGCTCTGTGACCTGGACAGATGTGCCTAGTTCTCTGAGGCTTGGTTTTTTTAATCTGTTAAGTGAGGCTAATGAAACCTGCCTCTTGGGACTGATGGCTCAGCTGAGGGACATAGCCAGGCCCTGGCATGCAGTGGGTGCCTGGTGCCCAAGGCAGGCTGGAGGCCTGTGCAGGTGGTTGGTGGGGCCCTAAGAGCTCTGGGTCACTGCCACAGGTCAGCAGACATGTGGCGCTTGGGCTGCCTCATTTGGGAAGTCTTCAATGGGCCCCTACCTCGGGCAGCAGCCCTACGCAACCCTGGGAAGGTAAGTTTCTTGCCCCTGGCTCTTTGCCCTGCCTCAGCCCCTCTGCCAGCTGGCTACCCCTGCCCTGACACTGACCCCTCCCCTACAGATCCCCAAAACGCTGGTGCCCCATTACTGTGAGCTGGTGGGAGCAAACCCCAAGGTGCGTCCCAACCCAGCCCGCTTCCTGCAGAACTGCCGGGCACCTGGTGGCTTCATGAGCAACCGCTTTGTAGAAACCAACCTCTTCCTGGAGGAGATTCAGGTGAGCCCCCAACCCACCCTGGGCTTCGACCCTATCTTTTTCATTCTGCCCCTACCCTGCTTTTCAGGGTACCTCACAATTGACCCTCAGGAGACAAGCATGGACTGTGGAGTTAGGCCAATCCGGGTTCAAACCCAGGCTCCAGCTCATACTTACTCTGTGACTTCCCTTGGCTGAAGTTCAGTCCCAATAATAGTACAGGTTGAGCATCCCTAATCCGAAAATGCATGATCTACTCCAACACTGGAAACTTTTTGACCACCAACATTACAATCCAAGGAAATGCCCATTAGAGCATTTTGCATTTCAGATTTTTTTGGATTACAGATGTTAAATTGGAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAATTCGACACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATCAGCTGGGCGGGCATCTGTAATCCCAGCTACTCCAGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCGACAGTGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAGATGTTGAATTGGTATAATGCACATATTCCAAAATCCAAAAAACATCTGAAATCTGAAACACTTCTGGTCCCAAACATTTTGGACAAGGGAGACTCAACCTGTACCTACTTCAAAGGGACCCAGTGAGGAGTCAGAATTGAAAATGTGTGGTATAGTGTTCTGTGCCCAGCAGGCATTTAGGGCCAGCTCTGGTTACTCCAGTCACTCCACGTGTACATTCTGGCTCTGGTCCCCAGGGGTGTAACACCCTGTACTGGCTGCAGGGGGGTGGGCAGCA
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Task1_train_16084
|
The gene SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
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AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCCGGGCAGCTGAGCCCAGGAGAGCAGGGTCCCCTCCCAGCCCTTTGGCCTCTTCCAGACCTGCCCAGTTGCTCCTTCTCCCTCCCTCCTTTCCTGGGGTCACTTCTTCTTCCCTCCTCAGTCTCTCCTTCCTCCATTCCCTGGGTGCCCGCCCCTGCCCCGGGGTTCTGGACCTCCTTGGAACCTTGGATTCACTCTCTGCCTCTCACCCACGCTCTTTCTCTGGGGCGTCTCCTCGTGCTTCTCTCATGGTCACTTCACCAGGACCGACTCCTCCCCGGAGCCTGGAGGCACCCACTTGCTGGTGGGAGAGAGTGTCTGGCGTGGGGCCAGTCTCCCTCTCTGGGTCTCTGCCTCACTCCTCACTGCACCCTCTCATGCCTGTCAGTCTTTCTACCTCTCCCCCTTTTTGCCTCGGTTTCCCCATCCCTCTGTCCCTTCTTAAGCTCTCATCCTTACAGTACGCTAGAAGGCAGGCTCTATTATCCTTTAGGATTTAGGCCTCTTTAGATAAAAGGGCTCACAGGCTTGGAGGGTTTTAAGTGACTTACCCGGCGGCGGAGTACTGATCTTAGTACCGCCCGCCGCCCCGGACTGCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCTCCCGCCCCTCCCTTGTCCCCGCCCCTTCCCGCCCCAACTCAGGTTCTGCCCCACCCCGCCCCAATTCACGTCCTGCTCCGCCCCGACGTAGGCCCCGCCCTGGCCCCCGGGCCCCGCCCCCGTCTGACGCAGGCCCCGCCCCCTCTCCGCCCCGCCCCGGCTCGGGCGGCCGGAGGACCCGGAGCTAAGGCGCCCGAACCCGCGGCGGCGGTGGGGACGATGTGGTTCTTTGCCCGGGACCCGGTCCGGGACTTTCCGTTCGAGCTCATCCCGGAGCCCCCAGAGGGCGGCCTGCCCGGGCCCTGGGCCCTGCACCGCGGCCGCAAGAAGGTGAGTGCGGCCGAGCTCCGTAGGCCGCGGTCGACCTGGGCCTTGCCTATTCCGCGCCGCCGACCCCGTCGCGTTGCGCCCGGCCTGACGTGGCGGCGGAACCAAGGGGTAGCAGGCCGGGGAGGGGGCGGGCAGTGCCTACGTGGCGGGCGGAGGGACCGAGGGACCGACAGGCGGACAGGGCCGGGGTCACGTGGGCCCGGCGAAGTGTCCCTAAGGCTGACCTGGGGAGAGACCTGGCTGCGGGCCCTTGTCTTCCGGCCACACAACAGCTCTGGGACCATCTCAGGCCCCGCTGCCCTCCCCTAGGCCACAGGCAGCCCCGTGTCCATCTTCGTCTATGATGTGAAGCCTGGCGCGGAAGAGCAGACCCAGGTGGCCAAAGCTGCCTTCAAGCGCTTCAAAACTCTACGGCACCCCAACATCCTGGCTTACATCGATGGACTGGAGGTACCTGCTGCCTTGCCTGCCCGTCTCTGCCCCTCACGATGTCCTGGTTACCCACTCCTGTCTCCCCTCCTGCCCTGTTTCCACCCTATGTGCCCCAGCACCCCCAGATTTGGTTTCCTCTTCCCCATCTCTCCCAACTTCAAGTCGCTTATCTCTCCTTCCTCTCTGCCCCTCCGCCCTTGATAACCCTGTGTCCCCTTCCCCAGACAGAAAAATGCCTCCACGTCGTGACAGAGGCTGTGACCCCGTTGGGAATATACCTCAAGGCGAGAGTGGAGGCTGGTGGCCTGAAGGAGCTGGAGATCTCCTGGGGGCTACACCAGATCGTGGTGAGGTGGGGGGCAGTGGTGATGAGAGCAGGGATGGGGGGTTGCAGGTGCTGGGGCGTGATGGCTCCTTTTGCCCCCAGAAAGCCCTCAGCTTCCTGGTCAACGACTGCAGCCTCATCCACAACAATGTCTGCATGGCCGCCGTGTTCGTGGACCGAGCTGGCGAGTGGAAGCTTGGGGGCCTGGACTACATGTATTCGGCCCAGGGCAACGGTGGGGGACCTCCCCGCAAGGGGATCCCCGAGCTTGAGCAGTATGACCCCCCGGAGTTGGCTGACAGCAGTGGCAGAGTGGTCAGAGAGAAGTGGTGGGTGACTGGGGGCAGCGCGCCCCAACCTGCCCTGTCCTGGAGGCCCCTGCAGCCTCAGGACTCCTAGACTAGTTGGCACTCCCCTGTTCCCTGCTGCCTGGCTGGGGAGGGAATCAGTGTCCCAGGAGTGAGGGACACTCCTCTGCCCCCAGGGTCCTCAGGGCGGTAGGGCGGGATGGACACAGCATTCGGGGTTGGGTGATTCTGAACTTGAAAGCTCTGTGACCTGGACAGATGTGCCTAGTTCTCTGAGGCTTGGTTTTTTTAATCTGTTAAGTGAGGCTAATGAAACCTGCCTCTTGGGACTGATGGCTCAGCTGAGGGACATAGCCAGGCCCTGGCATGCAGTGGGTGCCTGGTGCCCAAGGCAGGCTGGAGGCCTGTGCAGGTGGTTGGTGGGGCCCTAAGAGCTCTGGGTCACTGCCACAGGTCAGCAGACATGTGGCGCTTGGGCTGCCTCATTTGGGAAGTCTTCAATGGGCCCCTACCTCGGGCAGCAGCCCTACGCAACCCTGGGAAGGTAAGTTTCTTGCCCCTGGCTCTTTGCCCTGCCTCAGCCCCTCTGCCAGCTGGCTACCCCTGCCCTGACACTGACCCCTCCCCTACAGATCCCCAAAACGCTGGTGCCCCATTACTGTGAGCTGGTGGGAGCAAACCCCAAGGTGCGTCCCAACCCAGCCCGCTTCCTGCAGAACTGCCGGGCACCTGGTGGCTTCATGAGCAACCGCTTTGTAGAAACCAACCTCTTCCTGGAGGAGATTCAGGTGAGCCCCCAACCCACCCTGGGCTTCGACCCTATCTTTTTCATTCTGCCCCTACCCTGCTTTTCAGGGTACCTCACAATTGACCCTCAGGAGACAAGCATGGACTGTGGAGTTAGGCCAATCCGGGTTCAAACCCAGGCTCCAGCTCATACTTACTCTGTGACTTCCCTTGGCTGAAGTTCAGTCCCAATAATAGTACAGGTTGAGCATCCCTAATCCGAAAATGCATGATCTACTCCAACACTGGAAACTTTTTGACCACCAACATTACAATCCAAGGAAATGCCCATTAGAGCATTTTGCATTTCAGATTTTTTTGGATTACAGATGTTAAATTGGAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAATTCGACACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATCAGCTGGGCGGGCATCTGTAATCCCAGCTACTCCAGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCGACAGTGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAGATGTTGAATTGGTATAATGCACATATTCCAAAATCCAAAAAACATCTGAAATCTGAAACACTTCTGGTCCCAAACATTTTGGACAAGGGAGACTCAACCTGTACCTACTTCAAAGGGACCCAGTGAGGAGTCAGAATTGAAAATGTGTGGTATAGTGTTCTGTGCCCAGCAGGCATTTAGGGCCAGCTCTGGTTACTCCAGTCACTCCACGTGTACATTCTGGCTCTGGTCCCCAGGGGTGTAACACCCTGTACTGGCTGCAGGGGGGTGGGCAGCA
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AATGAGGGGCTGAACCGTGATTGAAACCCAGCACCGTCTCACTGTGGCATCTCTGCCCTTGAGTTATCTCCCAAAGGCATCCCAACCAGACTTTTCATAACCAGTCCCAGAATCTCACCAGTGCTCCATAGCTGTGGTTGAGGCACTGTCCCCAAGCCTGGGTCCTGAGACCCTACCAGCAGAAGAACCACTGCCTGTCCAGCCCCTCCTACACAGCTCAGGGGCTGGATCCCCACCAGTGTGATGTGCTGATTGAGCTAACACCACTCCATGGCTGTCTACACAGGCACTGAGAGATGCAATCCGTTGGCTTGAGAGCCGGGCAGCTGAGCCCAGGAGAGCAGGGTCCCCTCCCAGCCCTTTGGCCTCTTCCAGACCTGCCCAGTTGCTCCTTCTCCCTCCCTCCTTTCCTGGGGTCACTTCTTCTTCCCTCCTCAGTCTCTCCTTCCTCCATTCCCTGGGTGCCCGCCCCTGCCCCGGGGTTCTGGACCTCCTTGGAACCTTGGATTCACTCTCTGCCTCTCACCCACGCTCTTTCTCTGGGGCGTCTCCTCGTGCTTCTCTCATGGTCACTTCACCAGGACCGACTCCTCCCCGGAGCCTGGAGGCACCCACTTGCTGGTGGGAGAGAGTGTCTGGCGTGGGGCCAGTCTCCCTCTCTGGGTCTCTGCCTCACTCCTCACTGCACCCTCTCATGCCTGTCAGTCTTTCTACCTCTCCCCCTTTTTGCCTCGGTTTCCCCATCCCTCTGTCCCTTCTTAAGCTCTCATCCTTACAGTACGCTAGAAGGCAGGCTCTATTATCCTTTAGGATTTAGGCCTCTTTAGATAAAAGGGCTCACAGGCTTGGAGGGTTTTAAGTGACTTACCCGGCGGCGGAGTACTGATCTTAGTACCGCCCGCCGCCCCGGACTGCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCCCTAGCCCCCCCATCCCCGCCCCTCTCCCGCCCCTCCCTTGTCCCCGCCCCTTCCCGCCCCAACTCAGGTTCTGCCCCACCCCGCCCCAATTCACGTCCTGCTCCGCCCCGACGTAGGCCCCGCCCTGGCCCCCGGGCCCCGCCCCCGTCTGACGCAGGCCCCGCCCCCTCTCCGCCCCGCCCCGGCTCGGGCGGCCGGAGGACCCGGAGCTAAGGCGCCCGAACCCGCGGCGGCGGTGGGGACGATGTGGTTCTTTGCCCGGGACCCGGTCCGGGACTTTCCGTTCGAGCTCATCCCGGAGCCCCCAGAGGGCGGCCTGCCCGGGCCCTGGGCCCTGCACCGCGGCCGCAAGAAGGTGAGTGCGGCCGAGCTCCGTAGGCCGCGGTCGACCTGGGCCTTGCCTATTCCGCGCCGCCGACCCCGTCGCGTTGCGCCCGGCCTGACGTGGCGGCGGAACCAAGGGGTAGCAGGCCGGGGAGGGGGCGGGCAGTGCCTACGTGGCGGGCGGAGGGACCGAGGGACCGACAGGCGGACAGGGCCGGGGTCACGTGGGCCCGGCGAAGTGTCCCTAAGGCTGACCTGGGGAGAGACCTGGCTGCGGGCCCTTGTCTTCCGGCCACACAACAGCTCTGGGACCATCTCAGGCCCCGCTGCCCTCCCCTAGGCCACAGGCAGCCCCGTGTCCATCTTCGTCTATGATGTGAAGCCTGGCGCGGAAGAGCAGACCCAGGTGGCCAAAGCTGCCTTCAAGCGCTTCAAAACTCTACGGCACCCCAACATCCTGGCTTACATCGATGGACTGGAGGTACCTGCTGCCTTGCCTGCCCGTCTCTGCCCCTCACGATGTCCTGGTTACCCACTCCTGTCTCCCCTCCTGCCCTGTTTCCACCCTATGTGCCCCAGCACCCCCAGATTTGGTTTCCTCTTCCCCATCTCTCCCAACTTCAAGTCGCTTATCTCTCCTTCCTCTCTGCCCCTCCGCCCTTGATAACCCTGTGTCCCCTTCCCCAGACAGAAAAATGCCTCCACGTCGTGACAGAGGCTGTGACCCCGTTGGGAATATACCTCAAGGTGAGAGTGGAGGCTGGTGGCCTGAAGGAGCTGGAGATCTCCTGGGGGCTACACCAGATCGTGGTGAGGTGGGGGGCAGTGGTGATGAGAGCAGGGATGGGGGGTTGCAGGTGCTGGGGCGTGATGGCTCCTTTTGCCCCCAGAAAGCCCTCAGCTTCCTGGTCAACGACTGCAGCCTCATCCACAACAATGTCTGCATGGCCGCCGTGTTCGTGGACCGAGCTGGCGAGTGGAAGCTTGGGGGCCTGGACTACATGTATTCGGCCCAGGGCAACGGTGGGGGACCTCCCCGCAAGGGGATCCCCGAGCTTGAGCAGTATGACCCCCCGGAGTTGGCTGACAGCAGTGGCAGAGTGGTCAGAGAGAAGTGGTGGGTGACTGGGGGCAGCGCGCCCCAACCTGCCCTGTCCTGGAGGCCCCTGCAGCCTCAGGACTCCTAGACTAGTTGGCACTCCCCTGTTCCCTGCTGCCTGGCTGGGGAGGGAATCAGTGTCCCAGGAGTGAGGGACACTCCTCTGCCCCCAGGGTCCTCAGGGCGGTAGGGCGGGATGGACACAGCATTCGGGGTTGGGTGATTCTGAACTTGAAAGCTCTGTGACCTGGACAGATGTGCCTAGTTCTCTGAGGCTTGGTTTTTTTAATCTGTTAAGTGAGGCTAATGAAACCTGCCTCTTGGGACTGATGGCTCAGCTGAGGGACATAGCCAGGCCCTGGCATGCAGTGGGTGCCTGGTGCCCAAGGCAGGCTGGAGGCCTGTGCAGGTGGTTGGTGGGGCCCTAAGAGCTCTGGGTCACTGCCACAGGTCAGCAGACATGTGGCGCTTGGGCTGCCTCATTTGGGAAGTCTTCAATGGGCCCCTACCTCGGGCAGCAGCCCTACGCAACCCTGGGAAGGTAAGTTTCTTGCCCCTGGCTCTTTGCCCTGCCTCAGCCCCTCTGCCAGCTGGCTACCCCTGCCCTGACACTGACCCCTCCCCTACAGATCCCCAAAACGCTGGTGCCCCATTACTGTGAGCTGGTGGGAGCAAACCCCAAGGTGCGTCCCAACCCAGCCCGCTTCCTGCAGAACTGCCGGGCACCTGGTGGCTTCATGAGCAACCGCTTTGTAGAAACCAACCTCTTCCTGGAGGAGATTCAGGTGAGCCCCCAACCCACCCTGGGCTTCGACCCTATCTTTTTCATTCTGCCCCTACCCTGCTTTTCAGGGTACCTCACAATTGACCCTCAGGAGACAAGCATGGACTGTGGAGTTAGGCCAATCCGGGTTCAAACCCAGGCTCCAGCTCATACTTACTCTGTGACTTCCCTTGGCTGAAGTTCAGTCCCAATAATAGTACAGGTTGAGCATCCCTAATCCGAAAATGCATGATCTACTCCAACACTGGAAACTTTTTGACCACCAACATTACAATCCAAGGAAATGCCCATTAGAGCATTTTGCATTTCAGATTTTTTTGGATTACAGATGTTAAATTGGAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAATTCGACACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAAATCAGCTGGGCGGGCATCTGTAATCCCAGCTACTCCAGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCTAGCCCGGGCGACAGTGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAGATGTTGAATTGGTATAATGCACATATTCCAAAATCCAAAAAACATCTGAAATCTGAAACACTTCTGGTCCCAAACATTTTGGACAAGGGAGACTCAACCTGTACCTACTTCAAAGGGACCCAGTGAGGAGTCAGAATTGAAAATGTGTGGTATAGTGTTCTGTGCCCAGCAGGCATTTAGGGCCAGCTCTGGTTACTCCAGTCACTCCACGTGTACATTCTGGCTCTGGTCCCCAGGGGTGTAACACCCTGTACTGGCTGCAGGGGGGTGGGCAGCA
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Task1_train_16085
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This sequence change occurs on Chromosome 11, altering SCYL1 (SCY1 like pseudokinase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; CALFAN syndrome
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TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCTAGCCACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTATCTCAGAAACAAAAAAGATACGGAGACGAGAGTGGCTCTGAGGCTTGTGGCCTGAGCAACTGGAAGGTTAGGAGTTGCTATTTACTGAGATGACACAAGCATGTTGGGCCCCATCTTGGCTGTTTCTGTTAGGCAGCTGGATGGAGATGTCGAGTTGGCCACTGGTTATGCATGTGTGAAATTTAGGGAAGTCTGGGCTAGGGGTATGTGCCTGGGGGTTGTCAGCTCACAAGATGGCATTGAAAGCCATGAAATGGCTGAGATCACCTAGGGCAAGAGTGTTAGATAGAAAAGAGCCCTCTAGATTGGCTCCGGGTGTGTGAACGTTAGAGTCTCAGCAAAAGGAGCAGCCAGCCAGGTCAGAGGAGAACCAGGAGGGGGTGGTGTCCTGGAAGACCAGAGACCAAAGTTTCAGGGAGGGAAAACTCAGGGGTGTCAGAACTGCTGAGGGTCAAGTTTGGTGAGGATGGAGAACTGGCTGTTGAAATTAGTACCGGGGAGGGCATCAGTGACCTCACCCTGAGCCAGTTTGGCAGAGTGTGGGGCTGTTTGTGTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGACCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACA
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TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCTAGCCACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTATCTCAGAAACAAAAAAGATACGGAGACGAGAGTGGCTCTGAGGCTTGTGGCCTGAGCAACTGGAAGGTTAGGAGTTGCTATTTACTGAGATGACACAAGCATGTTGGGCCCCATCTTGGCTGTTTCTGTTAGGCAGCTGGATGGAGATGTCGAGTTGGCCACTGGTTATGCATGTGTGAAATTTAGGGAAGTCTGGGCTAGGGGTATGTGCCTGGGGGTTGTCAGCTCACAAGATGGCATTGAAAGCCATGAAATGGCTGAGATCACCTAGGGCAAGAGTGTTAGATAGAAAAGAGCCCTCTAGATTGGCTCCGGGTGTGTGAACGTTAGAGTCTCAGCAAAAGGAGCAGCCAGCCAGGTCAGAGGAGAACCAGGAGGGGGTGGTGTCCTGGAAGACCAGAGACCAAAGTTTCAGGGAGGGAAAACTCAGGGGTGTCAGAACTGCTGAGGGTCAAGTTTGGTGAGGATGGAGAACTGGCTGTTGAAATTAGTACCGGGGAGGGCATCAGTGACCTCACCCTGAGCCAGTTTGGCAGAGTGTGGGGCTGTTTGTGTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGGCCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACA
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Task1_train_16086
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Here is a mutation in SCYL1 (SCY1 like pseudokinase 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
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TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCTAGCCACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTATCTCAGAAACAAAAAAGATACGGAGACGAGAGTGGCTCTGAGGCTTGTGGCCTGAGCAACTGGAAGGTTAGGAGTTGCTATTTACTGAGATGACACAAGCATGTTGGGCCCCATCTTGGCTGTTTCTGTTAGGCAGCTGGATGGAGATGTCGAGTTGGCCACTGGTTATGCATGTGTGAAATTTAGGGAAGTCTGGGCTAGGGGTATGTGCCTGGGGGTTGTCAGCTCACAAGATGGCATTGAAAGCCATGAAATGGCTGAGATCACCTAGGGCAAGAGTGTTAGATAGAAAAGAGCCCTCTAGATTGGCTCCGGGTGTGTGAACGTTAGAGTCTCAGCAAAAGGAGCAGCCAGCCAGGTCAGAGGAGAACCAGGAGGGGGTGGTGTCCTGGAAGACCAGAGACCAAAGTTTCAGGGAGGGAAAACTCAGGGGTGTCAGAACTGCTGAGGGTCAAGTTTGGTGAGGATGGAGAACTGGCTGTTGAAATTAGTACCGGGGAGGGCATCAGTGACCTCACCCTGAGCCAGTTTGGCAGAGTGTGGGGCTGTTTGTGTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGACCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACA
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TGGGCCCGGTTGCTCACACCTGTAATCCCAGACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAACAATCTAGCCGGGCATGGTGGTGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTCGGAGATGGAGCTTGCAGTGAGCCGATATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAATAAAATAAAATAAAAATTAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAATCCTAGCCACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTAGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTATCTCAGAAACAAAAAAGATACGGAGACGAGAGTGGCTCTGAGGCTTGTGGCCTGAGCAACTGGAAGGTTAGGAGTTGCTATTTACTGAGATGACACAAGCATGTTGGGCCCCATCTTGGCTGTTTCTGTTAGGCAGCTGGATGGAGATGTCGAGTTGGCCACTGGTTATGCATGTGTGAAATTTAGGGAAGTCTGGGCTAGGGGTATGTGCCTGGGGGTTGTCAGCTCACAAGATGGCATTGAAAGCCATGAAATGGCTGAGATCACCTAGGGCAAGAGTGTTAGATAGAAAAGAGCCCTCTAGATTGGCTCCGGGTGTGTGAACGTTAGAGTCTCAGCAAAAGGAGCAGCCAGCCAGGTCAGAGGAGAACCAGGAGGGGGTGGTGTCCTGGAAGACCAGAGACCAAAGTTTCAGGGAGGGAAAACTCAGGGGTGTCAGAACTGCTGAGGGTCAAGTTTGGTGAGGATGGAGAACTGGCTGTTGAAATTAGTACCGGGGAGGGCATCAGTGACCTCACCCTGAGCCAGTTTGGCAGAGTGTGGGGCTGTTTGTGTGAGTCTAGGTGGAGTGCCATCAGGAGAGCAGAGCAGAGGAAATGGGAAACAGGAGTGCAGACAGACTTTGGAGGTTTTGCTGTAAAGGGGGACAGAAATGGGGTCCCTTTCTTCAACATGCTGGACAGGGCCAGGCCCAGGCTGGGAGGTGGCCTTGCAGGCTTTGATGGGTGTGCTCTGGGATGAGGGCTGCCAGGAGGCTGTTCCTGCACAAGGCCCTTTGCCCGCCACAGCCCACAGTTCCCACTCATTTCTGCCCCACAGTCCATGCTGCTCCTGGCCCCAAAGCTGAACGAGGCCAACCTCAATGTGGAGCTGATGAAGCACTTTGCACGGCTACAGGCCAAGGATGAACAGGGCCCCATCCGCTGCAACACCACAGTCTGCCTGGGCAAAATCGGCTCCTACCTCAGTGCTAGCGTGAGTGTCCTGCACAACTGCTGGAGCCCGGTCCCTGTCGCAGGACCACAGCCTCCTCCAGGGCCAGGAGTCTTGTGTGTGGGGGCCTTCATTCTCCCAGAGACTTAGACCCTGCACGCTGTTGGCCCCATATCTGGGTTCCCAGAGGAGGAGTGAGTTGGCCGAAGTCACACAGTCAGGAGGGATCTGGGATCTGAATCCAGGCGTGCTTGGCCCCATGGCCTGTGTGCATCCCTTCAGCCAGGGTTTGTAAGTTCAGTTGCTTGCCGTGCCCAGACAGTTAACAGGAATGAACGGTCAGCTGGGCAGGGAGGAAGGGAGCCTGTGTCCGAGCCCTGGGGACAGCTGCTGTTGTGGTCCCATGCCCTGAGGCAGTGTGGAACCCAGTGATTTGGGAAGAGAAGCCCAGGTCCAGAGTTTTAGGTCAACTCTCCCCATTTAAGTGATTCATTCATATTTTTCAGATTCTGGGGACCTATGGGTGGTCCCATTCTGGGAAGTAAGGGCTGGTGGTTCTGGGTCCCAACATTGACCCTACACTCAGGAGCCCTCTTTCCTGCCCCATCGTAGACCAGACACAGGGTCCTTACCTCTGCCTTCAGCCGAGCCACTAGGGGCCCGTTTGCACCGTCCCGGGTTGCGGGTGTCCTGGGCTTTGCTGCCACCCACAACCTCTACTCAATGAACGACTGTGCCCAGAAGATCCTGCCTGTGCTCTGCGGTCTCACTGTAGATCCTGAGAAATCCGTGCGAGACCAGGTGAGGCACAGCTGGGCCTGGGCCCTGGGCTGGGGCTGTAGGGGATGTCAGCCCCTAGCTGGCCTGGTAGGTTCTTGGGAACCCCAGAGACCCCAGCTCTGCCTCGTTACCCCACAGGCCTTCAAGGCCATTCGGAGCTTCCTGTCCAAATTGGAGTCTGTGTCGGAGGACCCGACCCAGCTGGAGGAAGTGGGTGAGTGGCTTACACTCGTGTTCCCTCTTTCCCTGCCATGTCCTTGACTGTGACCTGTTTGTGTCCCACCCCCACTGGAGTTTCTGAAAGGTCCTAGTGAGCAGACTTGACTCAGCTCCCCCTTCACAGATGGGAGAAATCAGGCCTGGAGAAAGGAGGGGTGGCTGCAGGGCACTGTCAGTTCCTGCTGTCCTGTCACCCATGGGTGCCTGACGTGCCCATACCCACCTCTCTCTCATGCCACTGCCCAGAGAAGGATGTCCATGCAGCCTCCAGCCCTGGCATGGGAGGAGCCGCAGCTAGCTGGGCAGGCTGGGCCGTGACCGGGGTCTCCTCACTCACCTCCAAGCTGATCCGTTCGCACCCAACCACTGCCCCAACAGAAACCAACATTCCCCAAAGACCCACGCCTGAAGGTGAGTGTCCTGGCCTAGCTGCATCAGTGGCTGAGAGGGCTGAGAGCTGCAGGCACCCAGGAACTCTTACTGTCTGACTCCCCCGGGGATGGTGAAGGGGATATAGGAGCTGGGTAGGCTCCAGTCACCCTGTGGGCTTCCTTGGTGCCCCTTCCCCCCAGTAGCCCCCTTCCCCTAGCAGCCTCTGCCCTGTCCCAAGACCCCCCTGAAAGCTCAGTGAGCCTCTGCTCCCCAGGAGTTCCTGCCCCAGCCCCCACCCCTGTTCCTGCCACCCCTACAACCTCAGGCCACTGGGAGACGCAGGAGGAGGACAAGGACACAGCAGAGGACAGCAGCACTGCTGACAGATGGGACGACGAAGACTGGGGCAGCCTGGAGGTGTGTGGGGCTGAGGGAGCCTCCCCAGGGGACCCCAGCTCAAATCCACAGGCTGCCATTCAGGGAGCTTCTGTGGGGCCTGGCTGGAGTTGGCCTGTCCTCATCAGCACAGCATCCCTGGCACGTAGGCCTCATGGAGTGGCCATTGTAGGCCAGAGCCAGCAGCAGGCCCCATTCAACCCCAGCGGCCCCAGGGAGCAGGCTAGGCAGATGGTGCCTGGGGCATTCCCTGAACTTCCTCACTCTTACCCACACCGTCCCCCTTTCCCCTCCTCCAGTGCCCACCCAGCCATGGGGGTCAGCAAGGAGAGGCCACTCCTGGGTCTAGAACCAGACCAGTTCTGCTTGGGGGATGGGCTCAGGTTGGGCTGAGGGAGGACTGGGGCTGTCCTCAGAATGGGGCAGAGCTGGGGGCCCAATTTCCCCATCTGGCTGACAGCAGCAGTTTCTGGCCCTCAAGGCTGTTGGAAGGGGCATCTAGATCTCATTCCCCAGCCTTAAAGAGGGGTGAGGGCAGGCCAGGGTCAGCGTCCATTTAATAGATGGGAAACAGGGCCTGAGGAGCAAATGAGGAGGAAGGCAAAAGACAGTGGTGGGGCCCGTGGCTGGGATGATGCTGGGGCGGGCTCACTTGCCCTTTAGCATGGGGTGGGAGTCAGTGGTCCCTTCCCACACTGCAGCAGGAGGCCGAGTCTGTGCTGGCCCAGCAGGACGACTGGAGCACCGGGGGCCAAGTGAGCCGTGCTAGTCAGGTGAGCTGGGTCTGGTGGGGAGGTGTGTGTATGGGGCTCTTTCCTCCTTGGGCCCAGGGCTACTTCCCCCTCCCGCTCTTCTACAGGTCAGCAACTCCGACCACAAATCCTCCAAATCCCCAGAGTCCGACTGGAGCAGCTGGGAAGCTGAGGGCTCCTGGGAACA
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Task1_train_16087
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A variant was discovered on Chromosome 11, affecting LTBP3 (latent transforming growth factor beta binding protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Geleophysic dysplasia 3
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CCATTCCCAGTGAGCAGCACTACCCCCTCACTCACCCAAACTGGAAACGGGGAGGGGTCGTTATCACCCTCGCTTTCACTTGACATCCAGTTAAAAAACCCAGGAGGTCTAATATTTCTCCAATATCATCGTCTCATGGCCATCCTGAGCCCACCACTCATCCTGTCCACCACTGTCTCCGCCCTAAGTCTCTGCAACAGACCTCCCTCCACAATCAGCAGCAGGGAACGTTCTAAAACAAATGGCAAATCTTGTCACTCTTACACTTAAAATGCTGCAGGTGCCCTCTAACACCTTCTGGGTGAAGCACAACCTCCCAGGCAGGACTTAGGGGGCCCTCCAAGGGATGGGGACCTGTCCCTCCCCGGCCAGCCTCAGCCCCCATAGCCTGATCATTCCTTACAGTTCCCCAACACCCCACCCTCTGTCTCACCTCTGATCTGCCAGTGCCAACCCCTGTGCCTGCCATGCTGTTCCTCTCCTCCTTTCTTGCCCAATTCCTAGTGATTCTTTAAGATGACCCAGGCCTCCTTCCTCCCATCCCGCTGTGTCTCCAGGAAGCAGCCCAGCTCCATCCAGGCCCAGCACTGCATGCTACAGTCTGTCTTTCCTTCTCCAGTTTTCAATGAGTCCCAGCCCCCAGCCCCGCCTCTTGGCGTATAATAAACAGGAGTGCAGGGGGGAGTACTATCGTCTGCCCTCATTCTTTGATATCTTTTTTCCTTCAAATTTAAGTAACATGCTTTGCAAACGCAGCTTCGAGCTCTACCCCGAGACCCTTCCTACGTGGAAATTCTAGTGGTGCCTTCCTTGGCAAAGTTCGTTGAGAAAATGAGTGAGCAGAGTCACCTGGGGATGAATGAGCCACCTTCCACCCACTGTTTACAGACAGCGTGACCCGCTCCCCGGCTTCAGCGCGTAGGGGGCGGCGGAGGCCCGGGGCGGGGGTGCTGGCGCTCACCCAAGCAACTGCGGCCGTCGGGCGCGGGCGCGTAGCCCTGGGCACAGGTGCAGCGGAAGGAGCCCGGGAGGTTCTCGCACCAGCCAGGCGAGCAGGGGCTGCCCTCGGCGCACTCGTTCACGTCTGCGGCGGAAAGACCTAGCCTCGGACTCTGCCCCACCGGAAGGCGGACCGCGCACCTCGCGGGGGTGTGGGTCTCTTCCCTGGAACGCGGGGTTGAGAGGGCAGCCTCTACTCCCGGAAGGCCCCGCCCCCAGACGCCAATCACCACCGCTACCCCGCCCCGCCCCCAGCGGAGCCAGACTGGGGGAGGCACCTGACGGCCCCACCCACTCGGCTCCGGGCCCCGCCCTCACCGCGACAGGCCCCGCCCCCCTGGCTGCGGTAGCCAGGCTGACAGGCGATGCACTTGAAGCTCCCGGGCTTGTTCTCGCATTTGCCATCCGGGCAAGAGCTTGGGTCCCGGCACTCGTCGATGTCTGCACGGGAGGGAGAAGGAAGAGGACCCATCTGGGGACAACGCGGGTGGCCCGGCTCCCAGCGTCCACAGCAGGGACTTCCTCCCACACAGATCAACGAGGCTCCCGGACCCCAACCTCTGAGAGGCCCAGAGCCGAGCATACAGGCCGGGTGCGGTGGCACACGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCGTGGTGGCAGGCGCCCGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCTCACCACCGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCGGGGGAAAAAAAAAAAAATGCAGGCACCCCAGCCCCACCCCAGGTGGAGAGACAGCTAAGGAGCTCCTTCTTTGGTCTGAATGGGGTCCCCTCACCTTCGCACACAGGAGGCCGGGAGGCTTTGAGCCGGTAGCCGGGGTAGCAGTTGCACTTGTAGTGACCGGGAAAGTTGATGCAGAAGCCGCCGTCGCCGCACAGGTGGGGCTTGGCGCATTCGTTCAGGTCTGTGCGGGAGGAAGGGGCCACGAAGGGGGTGTAGGAGGCGGCGGGCAAGGGGAGGGATTACACGGCGGTCTGGAGGAGAGCCCGTCCCACCCAGGGCCGCCTCCGCCCTGGCGGCGCTCACCCACGCACGAGCGCCCCCCGGCGCCCACGTGCAGGCGGTAGCCGCGGTTGCAGTGGCAATTGTAGGAGCCGCCGGTGTTCATGCAGATGCCCCTCCCCGGGCCACAGGGCTCTGCCTCGCACTCGTTCACATCTGAGAAGAACGGGTAGGCCAAGAAAAGTCAAAGGAAGCGTCGTTATCTGGGGTCCCCCCCCACCCACCTGCATGCCCGCCGCCTGCCCTGCGCTCACCCACGCAGTAGCGGTGCTGGGGATGTGACCGGTAGCCGGGGTTGCAGTGGCAGGAGTAGTCAGGGGGGCCCGGCACGCACTCTCCGTGGCCACAGATGTTCTGGTTCAGTCGGCACTCATCAGTCTCTGCGGGCATGGCCAGGTCAAGCGGCAGAGCAGGGAGCGCTCACCTTCTGCCATATCCCCAGGGCAGACCTCAACACCCCAGTCACACCATGACCTCAGGTTCCTGTACGCCCATACTCCAACTCCAGGATGTCCTATTTCTCTCTTTTAGATAACCCCAATATCAAGACCCCAGAAAGCTCCAAACTAGGACTCCAGGCCCCTGACAGCCGTATCACCCCACACCCAGGCCCGGATACTTCCATTCCCGGTTCACTCCAAGACCCTGACCCCACTCACCTCAAACCAAACCACATCCCCTCAGGGCCCCTCAGTCGTCCCAGTACTCCCACCCAAGGGACTAAAACTCCTTTCTCCCCAGTCGCCTCAATACCTTAAACTCTATAGCCTCGGTCACACCAGTGTCCTCTAGCCCAGTGACTCCATAAGCCCTTGCCCCAGGGACCCGACCCCCTATTCCAGAAGGGTTGATTACCCCCTCCCAAGACTAGCAGGAGCTGGTTTCCTGGGAATCCTAACTAGTGCCAAAGCTGTGCACAGGCAGTCAGATCCAGGAACCACCCCCCTCACTCTCTTTGTCACCAAGCCCAGGACTCCCTGCCTCCAGCCTCTCCCCTCCTTTGGATCCTCACTGCTCACCAGTTTCATTTCCCACACCCCTTCCCCCTCACTCCTGCCATGCAGCCTGGGCCATAACAGTGAACTCTGCTCTGCCCCAAACTCACCTGGCCAGTGGGCTTTGCAGGCTGTTCTCTTTGCCTGGAGTACCTCTCCTTAGGCTTCCTTAACAGCCCCTCCTTTGAGGGGCCTTGTCCACATTCCCAAAGCCCCCAAGAACAGCCATCTCCCACCTGAGCCCTAACCCTAGGAGCTCATGGAGGATCAGGGTTTCAGCTGGGTTGGCAGTTCCCTTGTGCTTTTGAAGCCCACACAGGCATGGGCTTGAACACGGCTCAGCTGTGTGACCTGGGGCAGGTTACTGAACCTCTTTGAGGCTCAGCTTTCTCATCTGGAAAACGAGGCTAACAACGCTCACTTTGCAGAGTATGAGAAGGTTAAATGGTATTTAGAACGTAAAACTCTTCAGACAGTACCTGGCACAGAGGGACTGCTCAGTCTGAGCTAGCAATTATGATGCTCAAAATCCTGCAGACACTGCCCATAGCCTCTGGCATTAAACTCAAGCCTCCTTGACAAGGCTCAGTGCACTGGACTTCCCCTGGTTCAGAGACACTGGCCTGTGTGTGGGTTCTCCCTCCTCCACCAGTGTTTCATGCTTCCATGCCTTTGCCCAACTTAACTTCCCTTGTGATATCCTTTTCCCAACCTGAATGCCCCTCCCTTCCTCATGTCTCTGGCATTTCTAACCATCTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCCGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTATCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACGCCCAGCTAATCTTTTTTTTT
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CCATTCCCAGTGAGCAGCACTACCCCCTCACTCACCCAAACTGGAAACGGGGAGGGGTCGTTATCACCCTCGCTTTCACTTGACATCCAGTTAAAAAACCCAGGAGGTCTAATATTTCTCCAATATCATCGTCTCATGGCCATCCTGAGCCCACCACTCATCCTGTCCACCACTGTCTCCGCCCTAAGTCTCTGCAACAGACCTCCCTCCACAATCAGCAGCAGGGAACGTTCTAAAACAAATGGCAAATCTTGTCACTCTTACACTTAAAATGCTGCAGGTGCCCTCTAACACCTTCTGGGTGAAGCACAACCTCCCAGGCAGGACTTAGGGGGCCCTCCAAGGGATGGGGACCTGTCCCTCCCCGGCCAGCCTCAGCCCCCATAGCCTGATCATTCCTTACAGTTCCCCAACACCCCACCCTCTGTCTCACCTCTGATCTGCCAGTGCCAACCCCTGTGCCTGCCATGCTGTTCCTCTCCTCCTTTCTTGCCCAATTCCTAGTGATTCTTTAAGATGACCCAGGCCTCCTTCCTCCCATCCCGCTGTGTCTCCAGGAAGCAGCCCAGCTCCATCCAGGCCCAGCACTGCATGCTACAGTCTGTCTTTCCTTCTCCAGTTTTCAATGAGTCCCAGCCCCCAGCCCCGCCTCTTGGCGTATAATAAACAGGAGTGCAGGGGGGAGTACTATCGTCTGCCCTCATTCTTTGATATCTTTTTTCCTTCAAATTTAAGTAACATGCTTTGCAAACGCAGCTTCGAGCTCTACCCCGAGACCCTTCCTACGTGGAAATTCTAGTGGTGCCTTCCTTGGCAAAGTTCGTTGAGAAAATGAGTGAGCAGAGTCACCTGGGGATGAATGAGCCACCTTCCACCCACTGTTTACAGACAGCGTGACCCGCTCCCCGGCTTCAGCGCGTAGGGGGCGGCGGAGGCCCGGGGCGGGGGTGCTGGCGCTCACCCAAGCAACTGCGGCCGTCGGGCGCGGGCGCGTAGCCCTGGGCACAGGTGCAGCGGAAGGAGCCCGGGAGGTTCTCGCACCAGCCAGGCGAGCAGGGGCTGCCCTCGGCGCACTCGTTCACGTCTGCGGCGGAAAGACCTAGCCTCGGACTCTGCCCCACCGGAAGGCGGACCGCGCACCTCGCGGGGGTGTGGGTCTCTTCCCTGGAACGCGGGGTTGAGAGGGCAGCCTCTACTCCCGGAAGGCCCCGCCCCCAGACGCCAATCACCACCGCTACCCCGCCCCGCCCCCAGCGGAGCCAGACTGGGGGAGGCACCTGACGGCCCCACCCACTCGGCTCCGGGCCCCGCCCTCACCGCGACAGGCCCCGCCCCCCTGGCTGCGGTAGCCAGGCTGACAGGCGATGCACTTGAAGCTCCCGGGCTTGTTCTCGCATTTGCCATCCGGGCAAGAGCTTGGGTCCCGGCACTCGTCGATGTCTGCACGGGAGGGAGAAGGAAGAGGACCCATCTGGGGACAACGCGGGTGGCCCGGCTCCCAGCGTCCACAGCAGGGACTTCCTCCCACACAGATCAACGAGGCTCCCGGACCCCAACCTCTGAGAGGCCCAGAGCCGAGCATACAGGCCGGGTGCGGTGGCACACGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCGTGGTGGCAGGCGCCCGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCTCACCACCGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCGGGGGAAAAAAAAAAAAATGCAGGCACCCCAGCCCCACCCCAGGTGGAGAGACAGCTAAGGAGCTCCTTCTTTGGTCTGAATGGGGTCCCCTCACCTTCGCACACAGGAGGCCGGGAGGCTTTGAGCCGGTAGCCGGGGTAGCAGTTGCACTTGTAGTGACCGGGAAAGTTGATGCAGAAGCCGCAGTCGCCGCACAGGTGGGGCTTGGCGCATTCGTTCAGGTCTGTGCGGGAGGAAGGGGCCACGAAGGGGGTGTAGGAGGCGGCGGGCAAGGGGAGGGATTACACGGCGGTCTGGAGGAGAGCCCGTCCCACCCAGGGCCGCCTCCGCCCTGGCGGCGCTCACCCACGCACGAGCGCCCCCCGGCGCCCACGTGCAGGCGGTAGCCGCGGTTGCAGTGGCAATTGTAGGAGCCGCCGGTGTTCATGCAGATGCCCCTCCCCGGGCCACAGGGCTCTGCCTCGCACTCGTTCACATCTGAGAAGAACGGGTAGGCCAAGAAAAGTCAAAGGAAGCGTCGTTATCTGGGGTCCCCCCCCACCCACCTGCATGCCCGCCGCCTGCCCTGCGCTCACCCACGCAGTAGCGGTGCTGGGGATGTGACCGGTAGCCGGGGTTGCAGTGGCAGGAGTAGTCAGGGGGGCCCGGCACGCACTCTCCGTGGCCACAGATGTTCTGGTTCAGTCGGCACTCATCAGTCTCTGCGGGCATGGCCAGGTCAAGCGGCAGAGCAGGGAGCGCTCACCTTCTGCCATATCCCCAGGGCAGACCTCAACACCCCAGTCACACCATGACCTCAGGTTCCTGTACGCCCATACTCCAACTCCAGGATGTCCTATTTCTCTCTTTTAGATAACCCCAATATCAAGACCCCAGAAAGCTCCAAACTAGGACTCCAGGCCCCTGACAGCCGTATCACCCCACACCCAGGCCCGGATACTTCCATTCCCGGTTCACTCCAAGACCCTGACCCCACTCACCTCAAACCAAACCACATCCCCTCAGGGCCCCTCAGTCGTCCCAGTACTCCCACCCAAGGGACTAAAACTCCTTTCTCCCCAGTCGCCTCAATACCTTAAACTCTATAGCCTCGGTCACACCAGTGTCCTCTAGCCCAGTGACTCCATAAGCCCTTGCCCCAGGGACCCGACCCCCTATTCCAGAAGGGTTGATTACCCCCTCCCAAGACTAGCAGGAGCTGGTTTCCTGGGAATCCTAACTAGTGCCAAAGCTGTGCACAGGCAGTCAGATCCAGGAACCACCCCCCTCACTCTCTTTGTCACCAAGCCCAGGACTCCCTGCCTCCAGCCTCTCCCCTCCTTTGGATCCTCACTGCTCACCAGTTTCATTTCCCACACCCCTTCCCCCTCACTCCTGCCATGCAGCCTGGGCCATAACAGTGAACTCTGCTCTGCCCCAAACTCACCTGGCCAGTGGGCTTTGCAGGCTGTTCTCTTTGCCTGGAGTACCTCTCCTTAGGCTTCCTTAACAGCCCCTCCTTTGAGGGGCCTTGTCCACATTCCCAAAGCCCCCAAGAACAGCCATCTCCCACCTGAGCCCTAACCCTAGGAGCTCATGGAGGATCAGGGTTTCAGCTGGGTTGGCAGTTCCCTTGTGCTTTTGAAGCCCACACAGGCATGGGCTTGAACACGGCTCAGCTGTGTGACCTGGGGCAGGTTACTGAACCTCTTTGAGGCTCAGCTTTCTCATCTGGAAAACGAGGCTAACAACGCTCACTTTGCAGAGTATGAGAAGGTTAAATGGTATTTAGAACGTAAAACTCTTCAGACAGTACCTGGCACAGAGGGACTGCTCAGTCTGAGCTAGCAATTATGATGCTCAAAATCCTGCAGACACTGCCCATAGCCTCTGGCATTAAACTCAAGCCTCCTTGACAAGGCTCAGTGCACTGGACTTCCCCTGGTTCAGAGACACTGGCCTGTGTGTGGGTTCTCCCTCCTCCACCAGTGTTTCATGCTTCCATGCCTTTGCCCAACTTAACTTCCCTTGTGATATCCTTTTCCCAACCTGAATGCCCCTCCCTTCCTCATGTCTCTGGCATTTCTAACCATCTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCCGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTATCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACGCCCAGCTAATCTTTTTTTTT
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Task1_train_16088
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With a mutation on Chromosome 11 in gene KAT5 (lysine acetyltransferase 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
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TCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCGTTTTGTCCCATTATTTTAGATGCCAAGAACCTGTACACCCTCCACCGGTGACACCTTCACAGTTTTGAGGAGTATTCATGGGGTATTTTGTAAAATGTTTCTCAATTGGGATTTGTCTGATGTTTTTCTCATGATTAGACTGGAGGCAGCTGGGATTACAGGTGTGAGCCACCATGCCCAGTCTCCAAACCCTGTTTACACAAAAATTTTAAAAAACTAGCCAGGCTTGGTGGTGCGCGCCTGTAGTCCCAGCTACTAGAGAGCCTGAGGTGGATCACTTGATCCCGGGAGGGGGAGGCTGCAGTGAGCGGAGATTGTGCCTCGCTGGCTGCACTCCAGCCCGGGCGAGAGAGCCAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCCTAATATGGCTGAGGGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGTGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGCTCTAGACCATCCTGGCCAACATGGTGAAACCCCGCCCGTACTAAAAATACAAAAATTAGTTGGGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTACAGGGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATATATACAAATTAAAAAAGCCTAATATACAAAATAAAGCTAGGAATCTTCCCTGAGTCCTCTTGCCTACGGAATGAAGTCCACAGACTTGGGGGAGCGTTCGAACCCTTCTAAGGCCACTTCCTTTCTCCAGCCTCTCGCGCCCAGTTGACTCCCGGCAACACCTCCCGCCGCCACAAGGAGACGCCCGAGGACTTCCCTCCGACAAAGCCAAAAACGGTATTGCCACGTGACCCGCTCCGCATACACGTGACCAGCTTCGCACCCGGTGGGCGTCACGTGACGGACTCAGTAGACCGCCACTGGCTGTGCACGTTATGGGGTTTCCACCTAGGGCTCGGCCTGAGGCTTGTAACACTCCGTTTTCCCCCGAGTCACAGGGGCAGTCTTGCCCCTCGCAGCTGGGTCGCGGTGTCTCTCAAAGGTCCCCCTCTACAGGGGCTTCGTGAGGCCCGGGCCCACAGGGCGCTCGGTCCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAGATGGCGGAGGTGGTGAGTCCGGTGCCCGGGGCGGGGCGGAGGGAGCCAGGGGAGGTGGGTAGAGCCCGAGGCCCCCCAGTAGCCGACCCTGGCGTCGCGCTGTCTCCCCAGGGGGAGATAATCGAGGGCTGCCGCCTACCCGTGCTGCGGCGGAACCAGGACAACGAAGATGAGTGGCGTGAGTGACGTTGGGGGGCGGGACTAAGGAACCTGAGGGCGAGGGGCGGGAGTCAACTGAAATCCCGGGATGGGGAGGGGCGTCTGGAATTATGGGGCGGGCGAGGCGCAGATACTTTGATGAAGGGGCGTGGCTCTTAGCTGCTCCGAGAGGTACAGGGCGGGGCCTGGAAAGGGGTGGCACTTGTGACTGAAGGAGGCTTAGGAGAGACCTAAGTGCTGGAGCTTAGGGATCCGGCCTGGGGGTGGAGTTCAGGTCGTGGAAGGGTGGAGTCTCATAGCCTGGCCTGTCTAAGGCCCCTGTCTATGCTATTCTCATAGCCCTGGCCGAGATCCTGAGCGTGAAGGACATCAGTGGCCGGAAGCTTTTCTACGTCCATTACATTGACTGTGAGTTCTGGGCCTGAGGTGGGGCATCAGGGTAGGGTTGGGGGACAGTCTTTGGCATTCTGTCCTGAGCCATCCCCACTGCTACAGTCAACAAACGTCTGGATGAATGGGTGACGCATGAGCGGCTGGACCTAAAGAAGATCCAGTTCCCCAAGAAAGAGGCCAAGACCCCCACTAAGAACGGACTTCCTGGGTCCCGTCCTGGCTCTCCAGAGAGAGAGGTGGTGAGTAGGTCCCCCACTTCACCTTTTCTCTCCTGCCTCCTATTTCTCTTGTCTGTTGGCATTAGGAGCTCCTGGATGGGCAGGAGGCGGCTCCCTCTCACCCTGACTTCATCTTGCAAAGGATGGGGGCCAAATTGCACATGTAGCTCCCAGAGTCCAGTAGCTAGTCCTGTGTCCTTCAGAAGGCGAGGGTGGGGTTTGATAATTTTGAGGTGAGGGACCCCTCTTCCCCTTCCCCATCCCACTGCCATCCCCGCCCCAAAGGAAGACCCTGGACCTATCTCTACAGCCGGCCTCGGCGCAGGCCAGCGGGAAGACCTTGCCAATCCCGGTCCAGATCACACTCCGCTTCAACCTGCCCAAGGAGCGGGAGGCCATTCCCGGTGGCGAGCCTGACCAGCCGCTCTCCTCCAGCTCCTGCCTGCAGCCCAACCACCGCTCAACGGTACCCTCAGCAATTCCAGGGACCTTGCTTTCTTCTCAGGTCCCACCTTCTCTACCTTCTGACCCACCTTTGTTGGTTTCTCTCTGCAGAAACGGAAGGTGGAGGTGGTTTCACCAGCAACTCCAGTGCCCAGCGAGACAGCCCCGGCCTCGGTTTTTCCCCAGGTGAGTTCCCCAAACCATCTCTTGTTCTCTTCCTCTCTTCTACTCTCTGGTGGCTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAAGGGATGCAGGCAGGGTGGAGAGTTATTTAGTGATGAGTTTAAAAATAAAGAAGGGGTGGTGGGCAGAGCTAGTGTTGGTGGGATTAGGAGACAGGCAGAACATTGTTCAAATGAGTCATTGGGGCCGGGCACCATGGCTCATACCTGTAATCCCAGCACTTTGGGAGTCCAACCAAGGCTGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTTTCTACTAGAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCAGCTCGGAAAGCTGAGGCAGGAGAACTGCTTGAACCCCGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCTACTGCCCTCCAGCCTGGGCGACAGACTGAGACTCCATCTAAAAAATGGGGTCATTGGGTGATCTTTTCCACATCATCGATCCTTTAGGGTTTCAGGTTTTTTATCTGGAAATTGGGGATCATGGTACCTCCCCCTTAGGGTTGCTGTTAGGCTTGAAGGAAACCTGTCAAAGGGCTGTGAGCTGTGGTGTCCTGCTGAGCTGTCTCTTACAACCTGGTATTTTCCACTGGCCCTGGGCAGGACTCCCAGGACAGCTCTGATGGAATACCGTCAGCACCACGCATGACTGGCAGCCTGGTGTCTGATCGAAGCCACGACGACATCGTCACCCGGATGAAGAACATTGAGTGCATTGAGCTGGGCCGGCACCGCCTCAAGCCGTGGTACTTCTCCCCGTACCCACAGGAACTCACCACATTGCCTGTCCTCTACCTGTGCGAGTTCTGCCTCAAGTACGGCCGTAGTCTCAAGTGTCTTCAGCGTCATTTGGTATGAGGGGTCCAGGGAGGCTGCCTTCCCAGCACCCTCCACGTTGCCCTTGTTCCTGATCCTCCTCTCTTCCCCAGACCAAGTGTGACCTACGACATCCTCCAGGCAATGAGATTTACCGCAAGGGCACCATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAAC
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TCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCAGCCGTTTTGTCCCATTATTTTAGATGCCAAGAACCTGTACACCCTCCACCGGTGACACCTTCACAGTTTTGAGGAGTATTCATGGGGTATTTTGTAAAATGTTTCTCAATTGGGATTTGTCTGATGTTTTTCTCATGATTAGACTGGAGGCAGCTGGGATTACAGGTGTGAGCCACCATGCCCAGTCTCCAAACCCTGTTTACACAAAAATTTTAAAAAACTAGCCAGGCTTGGTGGTGCGCGCCTGTAGTCCCAGCTACTAGAGAGCCTGAGGTGGATCACTTGATCCCGGGAGGGGGAGGCTGCAGTGAGCGGAGATTGTGCCTCGCTGGCTGCACTCCAGCCCGGGCGAGAGAGCCAGACCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCCTAATATGGCTGAGGGCGGTGGCTCACGCCTGTAATCCCAGTACTTTGTGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGCTCTAGACCATCCTGGCCAACATGGTGAAACCCCGCCCGTACTAAAAATACAAAAATTAGTTGGGTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTACAGGGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATAAATATATACAAATTAAAAAAGCCTAATATACAAAATAAAGCTAGGAATCTTCCCTGAGTCCTCTTGCCTACGGAATGAAGTCCACAGACTTGGGGGAGCGTTCGAACCCTTCTAAGGCCACTTCCTTTCTCCAGCCTCTCGCGCCCAGTTGACTCCCGGCAACACCTCCCGCCGCCACAAGGAGACGCCCGAGGACTTCCCTCCGACAAAGCCAAAAACGGTATTGCCACGTGACCCGCTCCGCATACACGTGACCAGCTTCGCACCCGGTGGGCGTCACGTGACGGACTCAGTAGACCGCCACTGGCTGTGCACGTTATGGGGTTTCCACCTAGGGCTCGGCCTGAGGCTTGTAACACTCCGTTTTCCCCCGAGTCACAGGGGCAGTCTTGCCCCTCGCAGCTGGGTCGCGGTGTCTCTCAAAGGTCCCCCTCTACAGGGGCTTCGTGAGGCCCGGGCCCACAGGGCGCTCGGTCCCGGAAGTGACGTCTCCCAGAGGGGCCGGAAGTGGCAGTGGAGGGAGGGAAGATGGCGGAGGTGGTGAGTCCGGTGCCCGGGGCGGGGCGGAGGGAGCCAGGGGAGGTGGGTAGAGCCCGAGGCCCCCCAGTAGCCGACCCTGGCGTCGCGCTGTCTCCCCAGGGGGAGATAATCGAGGGCTGCCGCCTACCCGTGCTGCGGCGGAACCAGGACAACGAAGATGAGTGGCGTGAGTGACGTTGGGGGGCGGGACTAAGGAACCTGAGGGCGAGGGGCGGGAGTCAACTGAAATCCCGGGATGGGGAGGGGCGTCTGGAATTATGGGGCGGGCGAGGCGCAGATACTTTGATGAAGGGGCGTGGCTCTTAGCTGCTCCGAGAGGTACAGGGCGGGGCCTGGAAAGGGGTGGCACTTGTGACTGAAGGAGGCTTAGGAGAGACCTAAGTGCTGGAGCTTAGGGATCCGGCCTGGGGGTGGAGTTCAGGTCGTGGAAGGGTGGAGTCTCATAGCCTGGCCTGTCTAAGGCCCCTGTCTATGCTATTCTCATAGCCCTGGCCGAGATCCTGAGCGTGAAGGACATCAGTGGCCGGAAGCTTTTCTACGTCCATTACATTGACTGTGAGTTCTGGGCCTGAGGTGGGGCATCAGGGTAGGGTTGGGGGACAGTCTTTGGCATTCTGTCCTGAGCCATCCCCACTGCTACAGTCAACAAACATCTGGATGAATGGGTGACGCATGAGCGGCTGGACCTAAAGAAGATCCAGTTCCCCAAGAAAGAGGCCAAGACCCCCACTAAGAACGGACTTCCTGGGTCCCGTCCTGGCTCTCCAGAGAGAGAGGTGGTGAGTAGGTCCCCCACTTCACCTTTTCTCTCCTGCCTCCTATTTCTCTTGTCTGTTGGCATTAGGAGCTCCTGGATGGGCAGGAGGCGGCTCCCTCTCACCCTGACTTCATCTTGCAAAGGATGGGGGCCAAATTGCACATGTAGCTCCCAGAGTCCAGTAGCTAGTCCTGTGTCCTTCAGAAGGCGAGGGTGGGGTTTGATAATTTTGAGGTGAGGGACCCCTCTTCCCCTTCCCCATCCCACTGCCATCCCCGCCCCAAAGGAAGACCCTGGACCTATCTCTACAGCCGGCCTCGGCGCAGGCCAGCGGGAAGACCTTGCCAATCCCGGTCCAGATCACACTCCGCTTCAACCTGCCCAAGGAGCGGGAGGCCATTCCCGGTGGCGAGCCTGACCAGCCGCTCTCCTCCAGCTCCTGCCTGCAGCCCAACCACCGCTCAACGGTACCCTCAGCAATTCCAGGGACCTTGCTTTCTTCTCAGGTCCCACCTTCTCTACCTTCTGACCCACCTTTGTTGGTTTCTCTCTGCAGAAACGGAAGGTGGAGGTGGTTTCACCAGCAACTCCAGTGCCCAGCGAGACAGCCCCGGCCTCGGTTTTTCCCCAGGTGAGTTCCCCAAACCATCTCTTGTTCTCTTCCTCTCTTCTACTCTCTGGTGGCTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAAGGGATGCAGGCAGGGTGGAGAGTTATTTAGTGATGAGTTTAAAAATAAAGAAGGGGTGGTGGGCAGAGCTAGTGTTGGTGGGATTAGGAGACAGGCAGAACATTGTTCAAATGAGTCATTGGGGCCGGGCACCATGGCTCATACCTGTAATCCCAGCACTTTGGGAGTCCAACCAAGGCTGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTTTCTACTAGAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCAGCTCGGAAAGCTGAGGCAGGAGAACTGCTTGAACCCCGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCTACTGCCCTCCAGCCTGGGCGACAGACTGAGACTCCATCTAAAAAATGGGGTCATTGGGTGATCTTTTCCACATCATCGATCCTTTAGGGTTTCAGGTTTTTTATCTGGAAATTGGGGATCATGGTACCTCCCCCTTAGGGTTGCTGTTAGGCTTGAAGGAAACCTGTCAAAGGGCTGTGAGCTGTGGTGTCCTGCTGAGCTGTCTCTTACAACCTGGTATTTTCCACTGGCCCTGGGCAGGACTCCCAGGACAGCTCTGATGGAATACCGTCAGCACCACGCATGACTGGCAGCCTGGTGTCTGATCGAAGCCACGACGACATCGTCACCCGGATGAAGAACATTGAGTGCATTGAGCTGGGCCGGCACCGCCTCAAGCCGTGGTACTTCTCCCCGTACCCACAGGAACTCACCACATTGCCTGTCCTCTACCTGTGCGAGTTCTGCCTCAAGTACGGCCGTAGTCTCAAGTGTCTTCAGCGTCATTTGGTATGAGGGGTCCAGGGAGGCTGCCTTCCCAGCACCCTCCACGTTGCCCTTGTTCCTGATCCTCCTCTCTTCCCCAGACCAAGTGTGACCTACGACATCCTCCAGGCAATGAGATTTACCGCAAGGGCACCATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAAC
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Task1_train_16089
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The gene KAT5 (lysine acetyltransferase 5), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
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CATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAACACTGACCAGTCAAGCCAGCAGATCAGTCCAGCCCATTTTTATTGAGTTCCTGCTGTCTGGCAGGTGCTGGTAGCCAGGAATGAGACAGTCTCTGTTCTCTGACAGCTTAGTCCATGGGAGAGACAGTCATACCAATGACCTCTAGCTCCCAGTGTCCTAAGTGTCATGAAACAGAGGGTAGGTTAGCAGGACCCAAAGGAGGTGGTCAGCAGAGCTTCATAGAGGGTTACCTTTCAGCCTTGGTGGATGACAAAGTGGCTGAGGGGATTTCTTGCAGTGGTGTTCTGAAGAGTAGGCATGGATGCACAAAGGTGGTCTTTGTGAAAGGCAGAGATCATTCTGGTTGGGAGGCAGAAAAGGGAGGATGAGGGAAGGCTCGTACATGGGACAGAGCTTAGGTGATGAAGATGCTGTGTTAACCACCATTTTGTAATTATTAATGTGGACCTGGGCATCCAAGTGGCAGTACCCAGCAGCAGGCGGTTAAAAAGCAATTCCTGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTTAAACCCTGTCTCTACTAAAAAGTACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGTTTGCAGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGAGACAGCAAGACTTCGTGTAAAAAAAATAAATAAATAAAAAGCAATTTCTGGCTGGGCACAGTGGCTCATACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCCAATCACTTGAGCCCAGAATTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCCAGGTACTCGGGAGGCTGAGTTGGGAGAATCACCTGAGCCTGGGAAGTCAAGGCTGCAGTGACCCACGATTGCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGGAGTGAGACCCTGTGTCAAAAAAAAAAAAAAAAAACCCACAATGTCTGAAATGCAGGAGAAATCGTGTGCAGAAGTAAAGCAGCAGGATTCATAATTTTGCTGGGGTAAACCCTAAGGCAGTTATTTTGTTAAATTCCAGAATTCCTTAACTCTGTTGTAGAGTAGCAGATCAGTTCCCAGGAGGTGTGACTGTGGATGTAGAATGTTAGGTTTTTTAACAGCTAGACTCCCAAGACTGTTAGATAGGGAGTCAGTGGTCAGAGTCTCACTTTGGACACATTAGTTTGAGGAGCCGTGGTCAGAGTCTCACTTTGGACACATTAGTTCGTTGGCTGCTGTTAAAAAACATTAAAAGGCAGTGGTCTCTCCTGGTCAGGCTTAGAATGGAGGTGTGCGGAGCAAGGCGGGAAACTTGCCTGACTGAGCAGGGAGGCACTCAGACACCATCACACATCTGGCACACAGGCTTTTCAACACTGAGGAGCAGCCCTGCCTAAGCTGCGGGCTGGTGGAGTGGGTCAGGCCCAGCCAGGGAAGAACACTCATCACCTAGCAGCCTGGGGCATAGCACGAACAGTGAAGCTCCTGGTTGACCCTGAACCACTGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCA
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CATCTCCTTCTTTGAGATTGATGGACGTAAGAACAAGGTTAGTGCTTGAGAGGCAGTGAGGCGCTGGGGTGAATCAAATGACAGCTTCTTCTTGCTCAGGTAAACACTGACCAGTCAAGCCAGCAGATCAGTCCAGCCCATTTTTATTGAGTTCCTGCTGTCTGGCAGGTGCTGGTAGCCAGGAATGAGACAGTCTCTGTTCTCTGACAGCTTAGTCCATGGGAGAGACAGTCATACCAATGACCTCTAGCTCCCAGTGTCCTAAGTGTCATGAAACAGAGGGTAGGTTAGCAGGACCCAAAGGAGGTGGTCAGCAGAGCTTCATAGAGGGTTACCTTTCAGCCTTGGTGGATGACAAAGTGGCTGAGGGGATTTCTTGCAGTGGTGTTCTGAAGAGTAGGCATGGATGCACAAAGGTGGTCTTTGTGAAAGGCAGAGATCATTCTGGTTGGGAGGCAGAAAAGGGAGGATGAGGGAAGGCTCGTACATGGGACAGAGCTTAGGTGATGAAGATGCTGTGTTAACCACCATTTTGTAATTATTAATGTGGACCTGGGCATCCAAGTGGCAGTACCCAGCAGCAGGCGGTTAAAAAGCAATTCCTGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTTAAACCCTGTCTCTACTAAAAAGTACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGTTTGCAGTGAGCCGAGATTGCACCACTGCATTCCAGCCTGGGAGACAGCAAGACTTCGTGTAAAAAAAATAAATAAATAAAAAGCAATTTCTGGCTGGGCACAGTGGCTCATACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCCAATCACTTGAGCCCAGAATTTCGAGACCAGCCTGGGCAACATGGAGAAACCCCCAGGTACTCGGGAGGCTGAGTTGGGAGAATCACCTGAGCCTGGGAAGTCAAGGCTGCAGTGACCCACGATTGCATGATTGCACCACTGCACTCCAGCCTGGGTGACAGGAGTGAGACCCTGTGTCAAAAAAAAAAAAAAAAAACCCACAATGTCTGAAATGCAGGAGAAATCGTGTGCAGAAGTAAAGCAGCAGGATTCATAATTTTGCTGGGGTAAACCCTAAGGCAGTTATTTTGTTAAATTCCAGAATTCCTTAACTCTGTTGTAGAGTAGCAGATCAGTTCCCAGGAGGTGTGACTGTGGATGTAGAATGTTAGGTTTTTTAACAGCTAGACTCCCAAGACTGTTAGATAGGGAGTCAGTGGTCAGAGTCTCACTTTGGACACATTAGTTTGAGGAGCCGTGGTCAGAGTCTCACTTTGGACACATTAGTTCGTTGGCTGCTGTTAAAAAACATTAAAAGGCAGTGGTCTCTCCTGGTCAGGCTTAGAATGGAGGTGTGCGGAGCAAGGCGGGAAACTTGCCTGACTGAGCAGGGAGGCACTCAGACACCATCACACATCTGGCACACAGGCTTTTCAACACTGAGGAGCAGCCCTGCCTAAGCTGCGGGCTGGTGGAGTGGGTCAGGCCCAGCCAGGGAAGAACACTCATCACCTAGCAGCCTGGGGCATAGCACGAACAGTGAAGCTCCTGGTTGACCCTGAACCACTGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCAGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCA
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Task1_train_16090
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A sequence alteration has been identified in KAT5, RNASEH2C (lysine acetyltransferase 5| ribonuclease H2 subunit C) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
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TGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAG
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TGGCCAGGCTCAAGGCGGGATACCCAGAGTGGTGACAAGCCTTTTCTCTTGCAGAGTTATTCCCAGAACCTGTGTCTTTTGGCCAAGTGTTTCCTTGACCATAAGACACTGTACTATGACACAGACCCTTTCCTCTTCTACGTCATGACAGAGTATGACTGTAAGGGCTTCCACATCGTGGGCTACTTCTCCAAGGTCAGTGCCTGCCCAAGCTGTCCCTGTGCCCTGTCCTGAGCCAGATCCCTTCCCTGACACTCACCTGTCCCCCTTCTCCAGGAGAAAGAATCAACGGAAGACTACAATGTGGCCTGCATCCTAACCCTGCCTCCCTACCAGCGCCGGGGCTACGGCAAGCTGCTGATCGAGTTCAGTGAGTATGTGTGCTGCGGCCAGGGGGTAGTGGACCCACTATCGGTGCCTCACAGGCAGATGGGCCAGGCTACTGTGATTCTCAACCCTGGCTGTGCAGCCCAGCCTCTAGGGGAACCAGCCAGAAATAACAGTGGCACTCTCCCGGGGTTCTCTCCGTTCAGGCTGACTGCCCTGCTTATCTGGGGTAGGTTCTCAGCCCCCCAGTTTGCTCCTTGGCCAGGGTTCTAAGTGCCACTCAGCTTTCCCCAAATCTGACTTACGTGCTCCTGCCTGGAGCCATGGGCAGAAGGTTAGTGAGCCGCTGGTGCTGATGTATCTGGTAACGTGTGCCATGATACGAGTACTGGGGCAAGGACCAGTGGCTAATGTCCCCAGTTGTCCCCTGAGCCTTGCAGGCAGGTATCCAAAATGCTGTCAGCAGATAGACATAAGCATGTTGTCCCTCGCTCCTTGTGTCCAGTGAGGTCAGTCTCTTAAAGCCAGAAGGGACTCTGAACTTCATCACACATGGGCTCTTCAGTGCCCTCCCCAACCCTGAGGCCCCTTCTTCCCAGCCTCTTACTCCCCATCACCCCCCATTCTGTCTGTCTCACCACTCACTTGGAATAACCAAGCTCTGACCTGAGAAACAAGGAGGAAGTTCTAGCTGTTGACCTGGTGAAGACACAGAGGCTTTACCTGATCAAGGTTATGGTCCATTCGAGAAATTTTATTGGTTAAATGATGCCCAGATGGGGTCACATCCTCAGAACTTCTCAGCCTGGTAGCACAAGTGGATGCTTGAAGAAACTCAGTCTTGGAACTCAGACAGCAATGGAGACGGGATGTGAGTGGGACCAGCAAGGGGCTAAGGTCCATTATGAGGGTGAGGAAGGGCTTCTAGAAGTAACAAACATCCCAGGTCCCTGACTGGGGAGAATGAAGACACTGACCAAGAGATGTGAAGCCACTCAGGGCTGTGCAGGGTCTGAGGATCTCACTGGGGACGGCCTCCCAGCGGCCAGCTATCAGCACGAGTTGGAGGGAAAGAGCCATGGTGGGGGTCAGTCACGTGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTAGCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAG
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Task1_train_16091
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This variant lies on Chromosome 11 and affects the gene RNASEH2C (ribonuclease H2 subunit C). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Aicardi-Goutieres syndrome 3
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TGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTTTGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGAAGTGTAGTCCCCTTACCCCCTAACGCTTTCCCTGGGTTCAAGTCCTAGGGTTTTCCAGTTGTGTTTTGTTTTTTTCCTTCCTTCCTTCCCCCCTCCCCTCTTTCCTCCCTCCCCTCTCCCCCTCTCCTTCCCCCTCCCCCCTCCTTCCCCCTCCCCCCTCCCCCTCCTCCCTGCCTCCCTTCCTTCCCCCCTTCCCTTCCCTTCCTTCCCGTCCTTCCCTCTTTCTTTCTTTTTCTTATTTATTATTATTTTTTTTTGACAGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCCAGGCACGGTCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACACCACCATGCCCACCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCTCCAGCCTCGGCCTTCTGAAGTACTTGGATTACAGGCGTGAGACACCGCCCCCAGCCGGGTTTTTTTCTTTTATTGTTTTTAATGGCACATGTCGTTGTAAAAATCTAAAACGATTCTGAAAAGTACTCTTTTTATATTGATTAGTAGGTAGGTTATTCATTTTTAGTTTATTAGGGACATCAACCCTTTTCTTAAATGCATTGAAAATGTTTTATCTGTGGTCTGTCTTGCAAACCTGTGTAAAGGTGATTTTTGCTGGACAAGGACTTATTTTTGTGGTTGTTTGGTCTTTTAGACAAGGTCTCACTCGCCTAGGCTGGAGTGCAGTGGTTTGATTGGCTCACTGCAGCCTCGACCTCCCAGGCTTAATCCATCCCCCATCCTCAGCTTCCTGTGTAGCTGGAACCACAGGCCTGCGCCACCACGCAGCTAATTTTTGTATTTTTGGTAGAGGTGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAATCACGCTGGAATTACAGGCGTGAGCCACTGCACCCAGGACAAAGACTAATTTTTTGTAGTCAAATTTATCAACACTTTTCAGTCTTTTAGATTTCACAATTTTCTCTCTTTGGTTTCTCAGCTCTTCTCTAATGTTTATTTGTTCAGACACCCAACTTAGATATATTTTTTCAAGTTCTCACATAAAACAAACACAAAACTGGAAATTTAGATTTAAATTGCGTTTAATTTATACATCCCTGC
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TGGCTCCCAGGAATGGTCTCCCCGACTTAGGAAGCACCTTGGTGCACCTTTTCTCCTTGCATCCTCACAACCACCCAGTCAGGCCACTCAAGTCTTACAGCAGGTGACACTCCCAAGGTCCCAGCTAGGAGGACTTTGAGAATTCAAGCATTCTCAGGTCTGGATTAGAGACAGGAATCTGTCTCCACTTCCTTACATGGCTAGACACAGAGCCCGGGATGGCAAAGGAAAATTGGAGGCCCCTTCTTCCCATGAGCCATTTTCTCTGCATCCCCTGCCCATAAGCCTTCACTGGCCTCTGATCACCCTCATGGTTGACTGCAGCTGCTCCTCTCAGTGCCCTCATGCCCTCCACTGTGCTCAGCGCACGGAAAGAGTGAATACTCAGTTCTTCCTGAGGGAACTGAGGCACAGAGAAGTGGAGGGCATAGAACTGCCAAGTGGCAGGGCCATGATAGGAACTAGGCAGCCTGCCTTGGCAACCTGTGTTTTTAAATGTTGCTTATGTTCATCTGTGACCTCTTACTCACCCTCTCCTGCTCCATTGCTTTAGGCTATGAACTCTCCAAAGTGGAAGGGAAAACAGGGACCCCTGAGAAGCCCCTCTCAGACCTTGGCCTCCTATCCTATCGAAGCTACTGGTCCCAGACCATCCTGGAGATCCTGATGGGGCTGAAGTCGGAGAGCGGGGAGAGGCCACAGATCACCATCAAGTGAGCCTGGCGCTGTCTACCTGGGGGTACATGGCATGGCTTGTCTGTTCCTGGGCTTTCTCTCTCAGGGCTCCTGGGGACAGATAAAGGTCCTCAGGGAACCTGACCTGTGCTCTCCCACAGTGAGATTAGTGAAATCACCAGCATCAAGAAGGAGGATGTCATCTCCACTCTGCAGTACCTCAATCTCATCAACTACTACAAGGTAGGGAGGCAGGCAGGGGAGACAGGTGTGTGGGATGCAGAGTGCAGTCCTCTGTGGGCTGACCACCTGCTGAACCCATCTCCTCTGCCCAGGGCCAGTACATCCTCACACTGTCAGAGGACATCGTGGATGGCCATGAGCGGGCCATGCTCAAGCGGCTCCTGCGGATCGACTCCAAGTGTCTGCACTTCACTCCCAAGGACTGGAGCAAGAGGGGGAAGTGGTGACCAGACACTGCCCACTGCAGTGCCAAGACGGCAGCAGGACTGGGGCTGATAGCCCACCCCGCCCCCACTGCAGCTCCCACAAAGCACTCTAAGGGAGATGGGGCTGAGGACAGCTCAAAAAGGAGAGGACAGGCCTGGCAGGGGCCCACTGGTGCCCAGCACCAAGGCGAGCTCCGGGCTCAGACCAACTCCAAGGTCAGCTGGCCACAGGCCCAGGCCTCCTCTGAAGCAGGGACCAGAGGGAGCCAGGCAGCTGTGTACAGTGAGAAGGGATCCGGATGGGGGAGCTCTGTACAGAGGGCTGGTGATTGTAAAAATTTCTTTTGTAAAGTAGAAGTTGGGGGTGGGGTGGGTGCTGGCTGCAAAAATTTCTGGCTTCTCTTACCCCTATTGCCCCCGGCAATAAATTGTTTCTATATGCCAGAGCCATGCAAAGTTCTTGGTGGGGAGGGGGAAAGGGCCCATGCTGGCTTAGGGGCTCTAAGGCGCCCAGACTCACAGGTGCTGTGAAGAGCTCCTTTATTGGGGTGATGGAATCGGTTCCAAAGAGCTGGTTTACTGCTGTGAAGGGATCGCAGCTTTGAATTTCAAGCTCTGGTTCTCAGTCCTCGGGCACCTGTGCGTGAATCTGCAACAGGAGTCGCCTCTACTGTTGGACTTGTAAGACAGGGCGGCAAGCTGGCCCCCATACCCGAGGAAGGACCCAGCTGTTCAGAATAACCGCTTCTAGACATGCTAGGAAGAGTGGTCAGGGAGCTACGCTTCCCACACACTACCCAGTAGAATCCTCCAGGCTCCGTCTGCGCAATTGTGCTCCCCAGCCCATCCACCCGGGGGCAAGACGGAACTCCTCGTCTACTCACCGCTGCCGCAAGGCTGGGCCAAGTTAAGGCCCCACGCACTATGGCATCCGGGCCAGGGATGGTCTCCAGACCCCACAGGGTGAAGCGGCTGAAGTTGGCAGTGGCTCCAATGAAGCGGTCCTGGGGAAGGGGCCTGGCTCAGCATCGGGACTACAGCTCCCGCCCGCACCCCCTTTCAACCCTATCCCTTTGCTCACGAAGTCCCGCTCCAGCGGCTCCTCCTCTTGGTCGTCAGTCCCGGAATCCCGCAAGGGGTCTGGCTTCCCCATCGACACCTTCTTCTCTTCTGTCACCATCACGTATCCCACGAGGCCAGGCGGCACCGCCACCTCCTCTCCCCGTAGACAGCGGCCCCGAAACGACACTTCGAGTCCTGGAGCGGGAGGCGCAAAGGGCCTCAGGCAGGACCCACGCTGGGTCGAGCCCGGAGCTGCCCTCCCGCCACCTCCGGACGGACCACGATCCCCAGGAGCCCAGGCGATGAGAAGCGCGCAGGCCGGCGCGGGGGCTGCCGGGAGCCGTAGTCCGGCCGCAGGGCTCACCCTCGGGGCCCTGGCGGATGGCGGGCGTGAAGAAGCGCCCCACCGGGGCGGGCCCGTCCACCGCAACCTCGCAGGGCAGCAGATGCAGTGTGGCGGGTACGGCGTCGCGCAATGTGGCGGAGCGCAAGTGGACGCGGTGCCTCTCGATGGCCGCTTCGTCGCCGCTCTCCATCCTCCCTCCTACGCGACGCCAGGGCTCGCGAGCTGACACTGAAGCTGGCGCGGAAAGCGCGCAGGACCTCTCAGGAAGCCTCCGCGGGGCCTCACGGGAAGCCGCCGCGGAGCTTCACGGGAAGTGTAGTCCCCTTACCCCCTAACGCTTTCCCTGGGTTCAAGTCCTAGGGTTTTCCAGTTGTGTTTTGTTTTTTTCCTTCCTTCCTTCCCCCCTCCCCTCTTTCCTCCCTCCCCTCTCCCCCTCTCCTTCCCCCTCCCCCCTCCTTCCCCCTCCCCCCTCCCCCTCCTCCCTGCCTCCCTTCCTTCCCCCCTTCCCTTCCCTTCCTTCCCGTCCTTCCCTCTTTCTTTCTTTTTCTTATTTATTATTATTTTTTTTTGACAGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCCAGGCACGGTCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACACCACCATGCCCACCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCTCCAGCCTCGGCCTTCTGAAGTACTTGGATTACAGGCGTGAGACACCGCCCCCAGCCGGGTTTTTTTCTTTTATTGTTTTTAATGGCACATGTCGTTGTAAAAATCTAAAACGATTCTGAAAAGTACTCTTTTTATATTGATTAGTAGGTAGGTTATTCATTTTTAGTTTATTAGGGACATCAACCCTTTTCTTAAATGCATTGAAAATGTTTTATCTGTGGTCTGTCTTGCAAACCTGTGTAAAGGTGATTTTTGCTGGACAAGGACTTATTTTTGTGGTTGTTTGGTCTTTTAGACAAGGTCTCACTCGCCTAGGCTGGAGTGCAGTGGTTTGATTGGCTCACTGCAGCCTCGACCTCCCAGGCTTAATCCATCCCCCATCCTCAGCTTCCTGTGTAGCTGGAACCACAGGCCTGCGCCACCACGCAGCTAATTTTTGTATTTTTGGTAGAGGTGGAGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAATCACGCTGGAATTACAGGCGTGAGCCACTGCACCCAGGACAAAGACTAATTTTTTGTAGTCAAATTTATCAACACTTTTCAGTCTTTTAGATTTCACAATTTTCTCTCTTTGGTTTCTCAGCTCTTCTCTAATGTTTATTTGTTCAGACACCCAACTTAGATATATTTTTTCAAGTTCTCACATAAAACAAACACAAAACTGGAAATTTAGATTTAAATTGCGTTTAATTTATACATCCCTGC
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Task1_train_16092
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A variant was discovered on Chromosome 11, affecting EFEMP2, MUS81 (EGF containing fibulin extracellular matrix protein 2| MUS81 structure-specific endonuclease subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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TCAGGGCCACACCCTACGCAGCCGCCCCTGGGGAACCCCTGGGAACCCTGAATCAGGGGCCATGACCTCTCCAAACCCTCTCTGCTCACTCCTCACCTTCAGTGACTTCAACGCAGGAGCCATCAAGAATAAGGTACTGTCTCTGCCTAGCTTCTCAGACATGGCCTGGCCCAGACCCCCACTGATCCAGCCCTTTCCCGAACCCAGGCCCAGTCGGTGCGAGAAGTGTTTGCCCGGCAGCTGATGCAGGTGCGCGGAGTGAGTGGGGAGAAGGCAGCAGCCCTGGTGGATCGATACAGCACCCCTGCCAGGTAGGCCCTAAAGGGCCCTTAGGTGTCCTCAGCCCCTGCCCTCCATGCATGGAATTCACCTTAATCCATGCTTCGTGGAGGGGGCCTGGCCTTGTGTGGGCTCTGCAGACCAGAGATAGACAGATCCCAGGGTGCTCGTGGAGGTCAAGTGGGGAGGAAGCCAGCAGGCCCACATAGTGTCCCAGGTAGTGGAGGCCACAGGAGGGAGGGAGACGTCCCACCTGGTGGAGAAGAGGCTTCCTGGAGAAGGGGTTGGGCCATTAAGGGGAGTGAGGGTGAAGGTTTGGAGCCTTTGCTGGTTTTGCCCCAGAGTTCCCACAGGGAGGGAGGACAGCCCGGCTGGCATGGGGCCTTGAGTGCCAAGCTCAGGAAGTGGGGCAGTGTCCCAACTCTTCCATCCCATGCTGACCCCTCTGCCTGGCCCCTCATGGTGCTGGCCCAGAGTGGGCCACTGTCAGCCTCAGAAACTCAAACCCCTGCCCCCCAGCCTCCTGGCCGCCTATGATGCCTGTGCCACCCCCAAGGAACAAGAGACACTGCTGAGCACCATTAAGTGTGGGCGTCTACAGAGGTGAGGGCAAGAGACGGAACCTGGAGGGAGTGGCAGGGACTGGGGCTGCCCTAGGCCCAGGGCGTGACCCTCGCTGCCTCTCTTCCTGCAGGAATCTGGGGCCTGCTCTGAGCAGGACCTTATCCCAGCTCTACTGCAGCTACGGCCCCTTGACCTGAGCTTATGCCGTGAAACAGCCCCCAGCCCCCGTCTGTCCCCCAACCCAGGCTAGCCAGCCTTTTAACAACATCTTTTGGGGTACAATTAGAATCTAAGTGTTTGCAGCCATATGTGTCATGTAGAAGATGCCTAGCCCTGGGGACCTTGTGAAATACGCAGGAACCAGGGATACCATCTGGTCCAGTGGTTTTTAAACAAAGCTGCTTAGCACCTGGAATTCCCTGGTCAGGGAGATGGAGTCAGTGGGGCATTGCAGCTTGGAATCTATTTTATGTCACCAGTTGGTCCTCATCAAATAAAATTTCCTTAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGCGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAG
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TCAGGGCCACACCCTACGCAGCCGCCCCTGGGGAACCCCTGGGAACCCTGAATCAGGGGCCATGACCTCTCCAAACCCTCTCTGCTCACTCCTCACCTTCAGTGACTTCAACGCAGGAGCCATCAAGAATAAGGTACTGTCTCTGCCTAGCTTCTCAGACATGGCCTGGCCCAGACCCCCACTGATCCAGCCCTTTCCCGAACCCAGGCCCAGTCGGTGCGAGAAGTGTTTGCCCGGCAGCTGATGCAGGTGCGCGGAGTGAGTGGGGAGAAGGCAGCAGCCCTGGTGGATCGATACAGCACCCCTGCCAGGTAGGCCCTAAAGGGCCCTTAGGTGTCCTCAGCCCCTGCCCTCCATGCATGGAATTCACCTTAATCCATGCTTCGTGGAGGGGGCCTGGCCTTGTGTGGGCTCTGCAGACCAGAGATAGACAGATCCCAGGGTGCTCGTGGAGGTCAAGTGGGGAGGAAGCCAGCAGGCCCACATAGTGTCCCAGGTAGTGGAGGCCACAGGAGGGAGGGAGACGTCCCACCTGGTGGAGAAGAGGCTTCCTGGAGAAGGGGTTGGGCCATTAAGGGGAGTGAGGGTGAAGGTTTGGAGCCTTTGCTGGTTTTGCCCCAGAGTTCCCACAGGGAGGGAGGACAGCCCGGCTGGCATGGGGCCTTGAGTGCCAAGCTCAGGAAGTGGGGCAGTGTCCCAACTCTTCCATCCCATGCTGACCCCTCTGCCTGGCCCCTCATGGTGCTGGCCCAGAGTGGGCCACTGTCAGCCTCAGAAACTCAAACCCCTGCCCCCCAGCCTCCTGGCCGCCTATGATGCCTGTGCCACCCCCAAGGAACAAGAGACACTGCTGAGCACCATTAAGTGTGGGCGTCTACAGAGGTGAGGGCAAGAGACGGAACCTGGAGGGAGTGGCAGGGACTGGGGCTGCCCTAGGCCCAGGGCGTGACCCTCGCTGCCTCTCTTCCTGCAGGAATCTGGGGCCTGCTCTGAGCAGGACCTTATCCCAGCTCTACTGCAGCTACGGCCCCTTGACCTGAGCTTATGCCGTGAAACAGCCCCCAGCCCCCGTCTGTCCCCCAACCCAGGCTAGCCAGCCTTTTAACAACATCTTTTGGGGTACAATTAGAATCTAAGTGTTTGCAGCCATATGTGTCATGTAGAAGATGCCTAGCCCTGGGGACCTTGTGAAATACGCAGGAACCAGGGATACCATCTGGTCCAGTGGTTTTTAAACAAAGCTGCTTAGCACCTGGAATTCCCTGGTCAGGGAGATGGAGTCAGTGGGGCATTGCAGCTTGGAATCTATTTTATGTCACCAGTTGGTCCTCATCAAATAAAATTTCCTTAGGAGTGCAGAGGGCTCATTGGGAAAATAAAAATAATAAAAATAAATAAAACTTCCTAAAAGAAAAGATTGAAAACCACTAACAGTCCAGTTGCCTCGTTTTATAGAAAAACAGGCCCAGGGAACTACTAGGGCTTATCCAAATGTACAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGTGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAG
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Task1_train_16093
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A variant has been detected on Chromosome 11 in EFEMP2 (EGF containing fibulin extracellular matrix protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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CAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGCGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTAT
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CAGTTTGAGGCAGAGTTAGGAATGGAACCCAGGGCCTCCTGGCGCTGTCCAGAGTGGAGTTTCTTAGGACCCCTGCAAGCCAGCCAAGTCCAAATCTCTGGGCCGGGGCCTGGAGTCCGCCCTCCTCGTTACCTCCTCTCCTCTCGGGGTGACTGAAGCTCGTGGTGCAGAGCTCCCAGCTCCTGTCAATGGGGGCCCCTGGGCCTGAACATATAGAGACCCCCATTTAGGTGAACTTGGCCTGCCCCCCCAAGTGCCACCCTGCCCCAGCCTGAGGCTTCCTGCAGTGTGACCCGCCCACCTCAGCCACCAGGACTTTCTTTCTCCCTTTATTGCCTTTCTCATTCTGCCCCTCACAACAGGCTCCTCAGCTAGGGTAGCTGCAGGGAGGGTGGCTCCCTCCTGCTCCTCAGAAGGTGTAGGCCCCTACAAAGACGGTGAGCCTCAGTACAGAGCTGGCCCGGTAGCTCATGAGGGAATTCATGGTGACCATCTCCAGGTCCAGCACGTACTCCCGGGGGCCCGTCACCGGCCGGGCGAGGACCAGCATGGCGCTGACGTTGTTGATTTGCTGCAGGGCAGTGGGTGGGGGGACATATATATTGTGTCAGCCTGTGTGCTAGGCCCCTGCCCCAGCGTCACCTCCCTGCCCCGTGGCCGTGAGGCAGAGGAACAGCCCTGGCCAGGCTGCCACCCCAGCCTCTCATGCAGCTCTTTGACACCCTCGATGTCTCTCCTCCCCACCCAGGCTCCTGCCCTCAGAAATCTCCTGCTGGGGCTCTTCTCACCCTCTCCAGCCTGCTCTGTCTGACCCAGGCTAACTGACGATTCAAGGCCACATGTGGCTCTTGGGACTGGTGGGACCTTTGGTGACCCAAAGTGAGCAGACTCCCTTCAGAGCATTCAATTTCAAAAAGAAAGAGAAGGGCTGGTACTAGACAAACCCCTTCTCCTGCTGAGACCCATGCATGCGGCTGCCAGTCACTGTGAGCAGCTCACTGTGAGCCGCCCCTGGCCCCCTCCCACCTAACAGATCCACTAGCAAGGAGTGGACTTTCTGACCCCAGGGCCCTGCACACGCCATTCCCTTGGTTTGTGGGTGAAGAAACTGAGATCAATATGGAAAACCAGTACCAGGACTCAAACTCCCGTGTCCGAGTGCTTCGTTAGAATTGCATTTAACCGTTAGAATTGCATTTAGAGTACCCCCGTCTTCCTGCAGAAACCCCGCCTCCGGGGGCGGGGCTTTGGGGGAGGGGTGGGGCATAGCAGCCTGGCCGAGTTCCCCCTTAAGGCGTCCTGGAGTTCAGTTTTAGATTGTGCATGTCAGTTGAGGGTTGCAGAAACCTTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGTAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTAT
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Task1_train_16094
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A mutation in EFEMP2 (EGF containing fibulin extracellular matrix protein 2), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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TTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGT
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TTACCCTAATGTAAAAGTCCCCCTGCGAGTTTCCAGCACGGATCTGAAAGGCATTGTAGGCACCGGGGTAGACGGAGGTCGCCTGGATCTGGAACACGTCAGCGGGCACGCTCCGCTCCGAGGTGATGGTCATGTAGCGGTGCACAATGGATGAAGGCTGCTCTCGACATAGAGGGTTGGAGGCCGGGCAGAGACAGCGGCTAGAGACCCCGAGGTGGGGGACACAAATGAGCTCCTTGCCCGTCCCCCCAATTTCTCCTACCCTACAAAGGGAGGGAATCCCAAAAGGACCCTTCTACCCCTGTGACTGGTTTTCATGAAGGACTATGATTCCCATCATCCCTCAGGGGCACTCGCTGGTCTGAATAGATGCCAGTCAGCCCCAAAGCCCCCTGGGAGACGTAGTTTCTGTGGGGGCCTGGCATCGAATTGACTCACTTCTCAGAGACCTGGATGTAGGGCTCCACGCAGCGGTTGGTGTCCACGCAGCGGTAGCCCCCATGGAAGTTGACACAGGTTTGGGCCTCGGAGCACTGGTGCGCACCAGACTCACACTCATCAATGTCTGTGCCAGGGGAGAGGGGCTGGAATCGGGGGCGTCAGGCTGCCAGCTCCTGACACCGTCCTGCCCATCCCACCCGGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCAACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGT
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Task1_train_16095
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This alteration occurs within gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial aortopathy
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GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAG
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GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTTGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAG
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Task1_train_16096
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The following genetic variant occurs in EFEMP2 (EGF containing fibulin extracellular matrix protein 2) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAG
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GGGCAACCTGTACCTTGGCAGAGGCGTGTGGCCAGCAGCTGGTAACCCTGTGGGCAGTGGCAGGAGAAACGGCCTGGCTCGTTGATGCAGCGGTACTGACAGAGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTTGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAG
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Task1_train_16097
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This variant impacts the gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) on Chromosome 11. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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AGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGA
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AGGTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACGCTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGA
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Task1_train_16098
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A variant affecting Chromosome 11, within the gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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GTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGACA
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GTAGCTGGAGTAGCTACACTCATCAATATCTGAGGAAGCATGGGGATGGGGACCCCGGGTCAAGGGCATTCCTCACCATTCAGTCCCACAAACATTTCCCAAGAAGGCCCAGCCCCATGTTAGACTGAATGTAGGAAGACAGAGGGGGATGAGACAAGCCACAAGTTCAGCCGGGAGATGGAGGGTTCAAAGAAAGTTTGCCCAGGCTGCCGCAGCTCACAGACTTCTCTCTGCCCAGAACTGGAAGAAACACTAAATAAGTTACTGGGAATCTAGAGGCTTGGGTGTGAATCCCACCAGCTGATCTAGGGGAATCTCATTTTCCCAATCAGTAAAATGAGTGTGTTAGACTAGATGAGTCTTATGGGTCTGGCTTGTGCTGTAACGCCCAATTCCTGCAACCCACAGTCAACCTGAGCACCCAGTGGTCACCTCCAACTAACTGTGAGCTTCACAGGCAGAACATTTCCTTTCTCTTGTTCCCCTCATGCTGCCAGGTAGCAGTGAGGCCTCATCCCGCAGCAAAGCATAACATAGGGGGTACATGCCAGTTTACAGGGTGTAAGAAGTCTGGGATCCAGCCCTGGCCCCATCTCATCCTGGCTGTATGAGCTTGGGCGGGTCACTTAACCTCTCTTAGCTGAATCATGAAAGTCACCATTTACCCAGGACTTTGTGATTATTTTTATGTAATCCTCCCAACAAACGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACACGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGACA
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Task1_train_16099
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A variant on Chromosome 11 in gene EFEMP2 (EGF containing fibulin extracellular matrix protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Cutis laxa, autosomal recessive, type 1B
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CGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTCGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGACACCCCCGCGGCCCGCGGCTCTGGCGGCTCGGCTGGCTCGGGCAATGCCTGCGGGCAGACGGACGGGCGGACGGCACAGCTCCCTGGACGCGCGGCCCCAGGAAGCGCCCCCCGCCCGCCCGCCTGCCGCGGCGCGGCCCACCCCGGCGCCTCCGCCCGCCCTTCGGCGGATTCCTGAGCCAGCGCCAGGGGGAGGGACCCCGACCCCCCGCTTCTCCGCCCCCGGCCAGCCACAGGCCCCTACCCGGTCCCCCGCGGCGCCGCCAGGAGCCGCCTCCCGGCGCCGGACCAGGGTCCCCCAGTGCTCGATCCTGGGGCCCCGACCTTGATGCCAGGCCCCCAGACTCACCCGGGGGCCCCCAGACGCTCACCAAAAATGTCATCCTGCTCACCTAGGTCCTACCTAATCTGCGCCCCCAGAATTTCATCCTGTGCACCCACACCGTAATCCTGGAGCCCCCAGATTCTCATTGTGCGCCTCCCGAGATCGTCCTGGGTACCTAGAGCCCACCTAACCCAGTCCTCCAGACCCTCAATCTGCTCCCTGCAAAATTTTATTCTCTGCCCCAGACCGTCATTGTAAAAGATCCTAAAACTTCATCCAGGGTCCCCAGACCCTCGCCCAGGAACGAGAGGCTCCCAGGAGCAGAACTGTCCTTCTCGCTCCCTCCTGCCCTCCACCCCCAGGACCGTCTTCAGCCGGGTGGT
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CGTGGAGGGAGATATGAATGTCCTCATTTTGTAGAGGAAGGAGAAAATCATACCTCCTAGGATTCTTGAGAGGAAGGAGGCCAAGTGTGTCAGGGAATACACTACGAGGGCAGGTTCTCATTAAGTGGCAGTTCATTCACTTTAAAGCACTGCAGCTTGAGACTTGCTGGAGCCCATCTATCACACTCTCACCTAATCCTCAAGACAACCCATTTTATAGAAGAAGAAACAGGCTCAGAGAGGAGTGACTTGTCCTAGTGCAAAATTCAAATGCAGGTAAATGCAGGTGAGCCTGATATGTGGGACAGGTGGCACCCACATCCTCAGTCTCACCAGTAGGCTTCAGTAAGGACGTAGCTGCCTCTCCTTGTGCCTCCCCCACTAGCCTGGGAGTGCTCCACAGCCAGCCGGGGTCGAGTACCCAGGAGGCAGCTGGGTGCACAGTGACAGGAGGCGGAGGCCTCAAATGGAGAACTGTGTGGCAGGAGGCACGGCATAGCTAGGGCCTGGGGGTCCACAGAGGAGTACACAGCAGGGATGGAGCTCTCACCACTGCAGGAGAAGCCATCCCGATGCAGCTCATAGCCCTGGTGGCAGCGACACAGGAAGGTCCCATAGGAGTTGAAGCAGCGCTGCTCGCATGGGGCCCCCATGTCACACTCGTTCACATCTGGGGGTGCCAGGAAAAACAGGAGGGATGAAAGCGGAGGAGGAGCCCAGAGCCTCCACTCTACCTGGGCTGGTCAAGAAGGGAGCGCCCCCACCTCACACCTCCCTGCCCAGGACCCAGGAGCCTGGCCCAGCCCAGCCTCACCAACACAGGAGCGGTTGTTAGGCCCCAGCTGGAAGCCCGGCTCGCACTGGCAGCGGAAGGAGCCAGGCAGGTTCACGCAGCGGTGCTGGCAGTAGCGGTAGCGGCACTCGTCTATGTCTAGGGATAGAGGCAGGAGAAGGAGGGCGGAGGGCAGAGGGCAGAGGGCAGGTGGGCTCGAGCCGGCTGGGACTCAAGGCTTCACCACCCATAATCCTGTGTCCGAGGAGCTGAATTAGGCAGGGTCAGCCAGGACACCTCCCAAACACTCCCCGCTACAGTCCTCTGTGTCTGATGACGGAGGGTGAGGTGGCAGGGGCCGGGGGTGAAGCCTGGCTTGAATGGGGGTCAGGTGCTAGGGCAAGGGCCAGACCAGGGACACAAAGCCGGGACTACAGAAGCTGCTTCCTGGACTCACCCACACACTCGGGCCCGATCTTGCGGTAACCATCAGGGCAGGTGCACTGATAGGAGCCAGGCAAGTTATGGCAGTCCTGGCTGGGGCGACAGTCGTGCAGGGCCTGGGCACACTCGTCCACATCTGCGAGAGACACCACTCAGCCCCTGCCTGGGATCCCGCACACCACCCAACATGACAGATAGTTCCAACACTTGTATTCGGTTCTCTCAACAGCACGCGTAAGAGTTCACCAGCCTGGAGCCATCAGGAAAGGCACCCCTAACCTCTAAAACCACATGTTGGGGGTTGCACAGGAAATAAGGTCCTGTCCAAACATCCCCAGCAACACTGATTCCTGGACTGTCCTTCCTCCAAGGCCTGTGGCTCCCAGGGGACAGACACTGGAAGGCAGACTTCCTGCAGTGTCTCTGCAGCAACCGAGGGGAGGGGCCCGGAGCTGGCTGGAGCAGTGGCACACAAGCTGGGGCCACCTGCGGCAGGTCCTAAACAACATGAGTGTCTGGATGAGGGTGTGGACATCACCAGTGGCCCTTTTGAGCTGGGGAGGAACATGAGGTCTGAGTTTAAGACGCCTGGTGAGAGGACTGGAAGCCAGGCACCAGAGCAGTCCCCACTCACCCACACAGCTGTCCTGATCGTCGGGCTCATAGCCTGGTGGGCAGGGGTTGGGGTGTTGAGCGGGAGGCACTGGTGGCGGGGGTCCCTCGCCGTGTAGGTCGTTGATGACGGCAGCGGAGCGGGGCAGGCACAAGTAGCCCCCGTAGTGGTTGATGCACTTCATTTCCCCCTTGCAGGCCTCAGGGATGGTCAGACACTTGTTGACATCTGCAGAGAGGGGCCTGCTGGGCACAGCCAGTCTCCTGGGCTGGCCCTGGAGGGAGCGGAGGCAGGAACCCAGCTCGGCCTTCTCTGAGATGTGTGGCCCCAGCAAAGCCTTCCCACTCTGCTCAACAAGCTAAGTCTGCCTGCTCAGGACCCCTCCCCAGGGTTGGCCAAGGCTGGAGATGGGGCAGCTGTTCCCACTGTTGCCCTCATTCTCGGCCTGCAAGTGGGTCTCTATCCCTCCCCACGGCCCTAGCCCTAGCTCAGCCCAAGATGGGGGGCCTCCTTACCCACCCCTGGGGACGCTACCCTCCCAGGTTGTGATGAGACAAAGAGCTGGGACAGGAGAGTGGTTCAGAGAAGGCGTACAGGATCCAGCTCCTCTGAGGGGTAGGGACAAGGTTTCCTGGGTTTCTGGGAGAGGATGAGGCCACCCCTAGCTCAACTGGCCTCCAGAGAGCCAGAGCTGGCCTCTGTGTAGCAGAGCTGGGCATAGAACGGGCTGCTGGGCTCCCACGGCAGTTCTTGGAGGTGGGGCTGTCCCTTGGAAAGCAGCTATCAATCCCTTTCCGGGTTCCTGGGGGTGTTTGGTCCCCCAGGCACACACACCCCGGCAGTGCTGGCTGTCTGGGTCCCACTCATAGCCATCTGTGCATTCCTGGAAGGGAACCAGAAGTGGCCAGTGGTCACCCTAAGATCTCCTCCAACTGGCCAGGCCAAGACTAGGGCCTGAGCCTGGCCACCCTCCGGCCTGCTCCAAACAATGGCCCCCAGCTCTCCACCAGCCAGGGGAGGAAGACTTCCCCGGCAGCAGTCACCCTGGGTCCCGGTCTCTTCCTCCCTACCCTTCCTGTCCCAGGCCAGCGGCCCTCACTGTCCCCACCGTGTAGCTGTCGGGCTCTTCAGAATCCTGAGGAGAAGCTGATCCCAAGAGCAACAGTAGCAGCGCCCAGAGCAGTAGAGACCCGGGTAGGCAGGAGGCGCAGGGGAGCATCCTGGGGCTGCGAGATGGTGGACACGGGTCAGGGGCCTCTGCCCGCGGCACCTCAACTCCCTGTACCGGGAGCCCGAGCCCAGCCCCCGCCACTGCCCGCTCAGGACCGTGCTTGGGCCTCGGGGCCTCCCAGGGCTGGGGGCCGACTCCTCACAGGCCCAGGTCCCAGGCCCGGGTCCCAGGCCCACCCGCCCCGGCCACCCCGCCCCCGCCCCGCGCCCCTGCGGCGAAGGCCGAGGAGCGCGGGCCTCTGTGGGCGCTACGCTGCCGCGGACTCGGCCGAGACTCCGGCCCACGCCCTCCCCCACGGACGGTCACAGCCACTCACTTGGGCCCGCGACACCCCCGCGGCCCGCGGCTCTGGCGGCTCGGCTGGCTCGGGCAATGCCTGCGGGCAGACGGACGGGCGGACGGCACAGCTCCCTGGACGCGCGGCCCCAGGAAGCGCCCCCCGCCCGCCCGCCTGCCGCGGCGCGGCCCACCCCGGCGCCTCCGCCCGCCCTTCGGCGGATTCCTGAGCCAGCGCCAGGGGGAGGGACCCCGACCCCCCGCTTCTCCGCCCCCGGCCAGCCACAGGCCCCTACCCGGTCCCCCGCGGCGCCGCCAGGAGCCGCCTCCCGGCGCCGGACCAGGGTCCCCCAGTGCTCGATCCTGGGGCCCCGACCTTGATGCCAGGCCCCCAGACTCACCCGGGGGCCCCCAGACGCTCACCAAAAATGTCATCCTGCTCACCTAGGTCCTACCTAATCTGCGCCCCCAGAATTTCATCCTGTGCACCCACACCGTAATCCTGGAGCCCCCAGATTCTCATTGTGCGCCTCCCGAGATCGTCCTGGGTACCTAGAGCCCACCTAACCCAGTCCTCCAGACCCTCAATCTGCTCCCTGCAAAATTTTATTCTCTGCCCCAGACCGTCATTGTAAAAGATCCTAAAACTTCATCCAGGGTCCCCAGACCCTCGCCCAGGAACGAGAGGCTCCCAGGAGCAGAACTGTCCTTCTCGCTCCCTCCTGCCCTCCACCCCCAGGACCGTCTTCAGCCGGGTGGT
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Subsets and Splits
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