Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_22100
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Lymphangiomyomatosis
AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG
AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCAGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTG
Task1_train_22101
With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Tuberous sclerosis 2
GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCC
GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGGGCGACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATCATAAGGAAGCGAAAATACATTTCCTGTTCCTTAAGTGGAAGTGGCTCATCACCAAGGTCTTCATTGTTGTCATCCTCATGTTGAGGGGACTGAGGAGGAAGGAGAGGAGACACATGGTCTTGCTCTCTCGGGTGGGAGAGGCGGAAGAAAATTGGCATGTAAGTGACCCATGAAGGCCAGCCTCGTGCTGTTCGAGGGTCAGAGAGTTTGCACAATGGACACGGTGACAAGTTTGATTCCCCTTTTCCTGCCTGCCTAGTGGGCCCGGCAGGGCGGCAGCTGCTGTTGGTTCCATGTGGCCTTCCCAGAATGGGGGGTGCCAGGCACTGTGTGAACCCCCACCTCCACCTCTTTTTTGTCCGAGGAAGGGATGTTGCTTTTATGTCATAATATTTTGAGATGAGGAGAAACTGTTAATCATTTAATCATCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCCAGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTTACAGGCATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCACGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCC
Task1_train_22102
Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Tuberous sclerosis 2
CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCT
CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGCCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCT
Task1_train_22103
A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Tuberous sclerosis 2
ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTC
ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCTCCATGTAGGTCAGGCTGGTCTTGAACTCCTAACTTCGTGATCCACCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCAGTCATTTCTTTCAATGATTTTTTAATCATTTAAAGGTGTTAATCATTTCTTTAAAAGAATAACAGTGTAACCACTTACCTCCAGAGTGCTGCAAAGGGTCCCTCAGGCCAGATTTCCCCTGGCTCCTGCTGGCCTCGGCCCCAGGGTTGCTGGAGGCAACAGATGCTCTTCACACCTTGCCACACGTGTCTGGGAGGTGCCCTTGACCTTTTGGGAGGGGCTGCCTACACCTGGGATCGCCCTGCAGCACACACTCCCCGCCCCATTCTGCCCTGTCTGCCACGCAGCTGGAGCTTCTCCATTGAATGGACTCTTCCTCACCTGTTGATGACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGACTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTC
Task1_train_22104
A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Tuberous sclerosis 2
GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTCAGCTTCTGATGGTGGCCCTGTAGGGAGCTGTTGTTGGGTTCCCATCCCTCAGGCTCAGCCCCACCCTGTTGGGCCCCTTCAGCCCCTCTGAGAGGCTCACTGGGTCCTCATGGGTCTTGCCTCAAAGCATAGCCAGCCTTGCTGGGCTGCAGGTTCTGAGGCCTTACTGGCCCACAGTGTATCCGAGGGGTGAGGCCGGCTTTGGGAAATGGAAGCTGTTCCCGGGACACTGCCTGGCAGGCCATCTGGCCCCGGGCTCTGCCTGAGCTCCGCTCATCTTCTGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCAC
GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGAGGGAGGAGGCTGTGGGTGCTGGGCCTCCGGTGTCACCAGGACAGAGCCTGTGTCTGTGTTGGGATGTGGGTGTGTGCACATCAGCAGGTGGCCTTTTCTGAGTGCCTGTGGTGCTGGACGTGGGTCTGAGCAGGTGGGACGCCGCCTGTCCTGGGCCTGCACGAGCTTGGCTCTGGCTTTCACCATCCTCTTCCTGACAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGTACGCGGGACCTCGCCCACGGCCCATGAGGCTCAGGGCGTCAGAGGCGCTGGGGCTGTGGTGGCGCTGTTTGCATGTCTGAGGGATGTCCCAGGGTTGGGAAGAGCCAAGTCTGTTCCGTTCCTGCTGCGGGGACTTGGCCTCAGCTGCTTCTCTTGCTTCTGCAGGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGTGAGTGGGGCCGGGCAGGGACCATCCGTCCCACGTTGGGCCAGGAGGACAGGGAGCTGCCACCTGCCTGCTGGGCCTCCCTCCCTGTCTGGCCTGTGGAGGGCAGCCCTCCCTCAGAGCTGAGCCTTCCCCCTTCCCCGAGCAGCTGCAGGGACAGAGGCCTGCGCTGGGCAGGCTCCCCCGGCTGAGAACAGGGCTCCATAGCCCTTGACGCTGTGCAGCCACAAAGCAGAGCCTCAGATGCTAGCTTCCGCCTCTGTCTCTAGGGTCCAGAAGGCCCTGTCCTGACGCCTCCTCTCCTCGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCGGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGGTACCATGGCCGGCCTGGGGTTGGGGTGGGGGACCCAGTAGGGTTTTTCCCCAAAAGACTGCGAGCCTCTGGGCAGAGCGAGTGAGACCCTTCGGGCTCGGGCTCCATTTCCCTCAAACTCAGCTGCACTCTGGAGCGCAGATTGTGCCTTGGGCAGGGTGGAGGGACCCCTGCCCCAGCTCGCAGCTTTTGGGACTGACGTCAGAGGTCCCCAGCCAAGGGCATGTCACTGAATGTGGATGTCTCCCATCTGTGCTTTTCCTAAGTGGGGCTCCCGTGCCGTTCACCTCACATTCCTGGTGTGTTACTTGGCAGGCACTCCCACCACTCCGAAAGGGAGGCCCTTCCTGGGAGGGAGGCAAGAAGGCTCCCCAGCCCCTTTGCCCCCTTTCCTGGGCCTGCGTTCCCAGGGCCTCCCCAGCCCCTCTGGCTACCCCGTGACCTGGCCGCTGGGGAGAGGTTTCATGCCTGGATTTGGTCATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGGTAGGAGGTCAGAGCAGGACAGGCGAGCTTGATGGGGCCTGGGATTCGAGGGCCTGGCCCAGGTAGGCCCCACATTTTTCTCATAAACGAGTTTCTGCCAGGCCAGGGATGAGTGAGTTGGCTCTGCTTCCCTGGGTGGCTGCCAGATGCCCAGAGTGGGGACATCCGATTCCCTGGTGCTTCTAGCTCTCTTTGGGGCCTGGGAGCCATCCAGTGTTCCCTGTCCACCCCGGACAGCATCTCTGCTCTCTGTAGAGCGTTGCCTGGCTTGTTCCTGCTGTCCCAAGGGGGAGGTGGCCATGCCGGTTGGTGGAGCTGGGCTGGTTCTGAGGCGCAGGGTGGGCAGGCCAGAGAGTCTGGCTTCTGCCTCCCTCCACGCCCCATCAGGTGCCGGAAACTGTCCCTTCACCTGCGATCTGCCTCGCCCCCGTCCCAGTCGCATTCTTCCACACCTCTCTTTGACATGGCCCTCCGGGACGAGGAGCTGGTGTCCTAGAGATTCTGGCCTCCGCTCAGGGCCATGCCCGCCAGGAGATGCTGACTCTGAGGCTTGGCCCATCTGTGCCCCGGGCCTCAGCTTCTGATGGTGGCCCTGTAGGGAGCTGTTGTTGGGTTCCCATCCCTCAGGCTCAGCCCCACCCTGTTGGGCCCCTTCAGCCCCTCTGAGAGGCTCACTGGGTCCTCATGGGTCTTGCCTCAAAGCATAGCCAGCCTTGCTGGGCTGCAGGTTCTGAGGCCTTACTGGCCCACAGTGTATCCGAGGGGTGAGGCCGGCTTTGGGAAATGGAAGCTGTTCCCGGGACACTGCCTGGCAGGCCATCTGGCCCCGGGCTCTGCCTGAGCTCCGCTCATCTTCTGCTGTCCTCATGGAAGACACTGCCCAGGGTTGGTGTGGGATCTGGTGGCTTGGCCACTTCAGGCAGCACTGCCCCTTGCAACAGAGCCAGCCTGTGAAGGGCCCAGAACCAGGGGATGAGAGCCCAGCATGTCTGGGTTCTGTTGGCCTGTGGGATCGTGTCGGAATGCAACTGACCGGAGCAGTCTGCTGTGCAGAGTCTGCTCGGGTAGCTCAGCACTGCTGGCTCTGCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCAC
Task1_train_22105
A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; not provided
GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCC
GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTCCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCC
Task1_train_22106
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Tuberous sclerosis 2
GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGC
GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTACCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGC
Task1_train_22107
A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCGGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22108
The gene TSC2 (TSC complex subunit 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Tuberous sclerosis 2
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22109
This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Tuberous sclerosis 2
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22110
Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Isolated focal cortical dysplasia type II
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22111
A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Lymphangiomyomatosis
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22112
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Hereditary cancer-predisposing syndrome
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22113
Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Tuberous sclerosis syndrome
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCTGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTA
Task1_train_22114
This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hereditary cancer-predisposing syndrome
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22115
This mutation is located in gene TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Isolated focal cortical dysplasia type II
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22116
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Lymphangiomyomatosis
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22117
Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Tuberous sclerosis 2
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22118
A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Tuberous sclerosis syndrome
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22119
Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; TSC2-related disorder
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22120
Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Tuberous sclerosis 2
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCATGCACCCGAGAGGTTCGGGCTGTGTAACCTGTGCGGGCTTCTCTGGTGCCCTCTCTCAGGACTCCTTGGGGAACCTGGGTGTCTCGCCTTCTGCTGCCTCAGGGCCTGGGCGTCTCTGCCCGGCTGCCATGAGTGCTCTCCTTCCTGGCTTTGAGGGGCGGCTCCTCTCACCCCTCTAGTGTCCATGTGAACGCTCCTCCTTGAAGAAGCCTCTTCCCCCCCGAGCAGTGGCCCTCCCCTGGTTTTGGGCCTCCTCTCTGTCCAACAGAGCACACGCCGCTTCAGGGGGGCTTTGTTCGCTTCCCCCAGACTGTGACTTCAGGAGCTCAGGTGCCTGTCCCTTCCCCTCACCGCCTGTGCGCATCTGGGCAGGCCCTCAATGTTGAGATGGCAGAAGGGCACTGCTGGGCCCGCACTTGGTGTAGAGGCTGGAGAGAAGATCGTGTGTGCTTTGTGGGCCACATGCAGGTCCTGTCGGTCTTTCTGTTTTGTTGATAACCCTTTAGAAGTGTAGAAGCCTGGCCAGGCGCGGTGGCTCAGGCCTGTCATCCCAGCACTGTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCTGGCGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGGCAGGAGAATCTCATGAACCCAGGAGGTGGAGCTTCTAGTGAGCTGAGATCACGCCACCGCACTCCAGCCTGGGCAACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAGAGAAGTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCTGGCGAACACGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAACTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGGGGTGGAGCTTGCAGTGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGTGCGGAAGCCTTTCCTCACGGATCACACAAATGGTAGGCGACAGCTCGAATTGGCCCAGAAGCTGTGGTTGGCTGGCCATGGGACCGAGAGTTGAGGCCAGGGTCGGGAAAGCCACGTCCGTGTGGCCGTGGCCTTCTCTCCTCTGCAGCACCCCATCGCTGCCGTGGGCAGAGCAGCCGTGTTGGCCTTCAGAGGCGCTGCACGGGACCCCGGCTCCCCTGACCACCCTCTCCATTACCGCAGCTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTGAGTGGTCGCCCCAGGCCCTGTGCCTCCCAGCCGTGGCCCCCGCTAGGCCTTGCGGCAGAAAGCCCCGGCAGCCTTTGTCCCCAAGGCCTGAGCGCCTCGGTTTTTTGCACTTCATGCCCTGGGGATGTTTCCCTGCTGCCAGGATGGAGTGCCAGCCCCCTTCTCATCTCAGGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCAGAAGGATTTTGTCCCTTTCATCACTAAGGTGGGCTCAGGGCCGGTGAAGGCTGTGTCTCTCGGTAGGCCAGGGCTTGCTTTGCCCTTGGCTGTCCATGGTCGGGCAGAGTGACAGGCAGGTGGAGGGCAGTGGGAGGGTGTTTGGGGCTGTGCCTGTGGCGCTGGGGGCTCTGCTGGGCAGCCTGCAGGGCTTTGATGCGCGGCAGGCATTGAGGGGTGGGAGCTGGGTGCCGCCGCCTTGCCCCTAGCCTGCAGCTTGTCCCTGGCCAGGGGGCACCCGGCAGGCCTGGTGAGGGCCTCCAGCCCCCATTGCCACCCCTCACTGTCTGGGTGTGCTCACTCTGCCAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGTACGGCCTGCGGGGGTGTGCCTGGAGTCGGTGTGGGGTGGGGAAGGACATGGGGCTGTGGCCTGCCTGACGGTGCCTCCAAGTCAGTGAGTGGAAATGGGTCCTGTGTGCCCTGGAGTATGTGAGGCAGGGCAGGACCTGCAAGGGCCGCTAACACCCCTCAGCCCCTCAGCAGGTTGGCCGTGGTGGCCTGGGTCCGGGCTGCGTGTGCCACGGGCACCTACTTGTGGAATTGGGGGTTGGGGTGCAAGCTTTAGGCGCCTGAGCCCCTCGAAGGAGCCGGCCTTGTCTGGGGCTGCCCCCTCCTCTGCAGCCCCCAGCCTGCTGCTAGCCGGGGACTCTGCTTCATCACCGCCGCCTTGCCGGACCGCAAAGAGCTGAGCCAGCCTCTGTGTTCTTGTTTGCATTTCATTTGAACGGCTTTCTCCTCCTGTCCCCCACCTTCCTGCCCGAGCTATTTTGGCTTTCCCTAGATGGGAATACGGCATTTTCCAGCGTGACCTCAACTCGGAAGCTGTTGTCTCCAGCCCCTGGGGGCCGGGGGCCAAGCTCGGCCATTACGGCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAG
Task1_train_22121
This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Tuberous sclerosis 2
GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAAGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
Task1_train_22122
An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Tuberous sclerosis 2
GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGACGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGG
Task1_train_22123
A variant found in Chromosome 16 affects TSC2 (TSC complex subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Tuberous sclerosis 2
CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAG
CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCATTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAG
Task1_train_22124
Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Tuberous sclerosis 2
TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTC
TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGGTAGCGGGACTGTCGGGTGGGGGGCACGGACCCTGGAGCTTGGCCCCGTGAGCACCTGGGTGGCAGTGCATGGGGCTGCTTGCATGACCTCATCGTCTGCCCGTGTCCTCCCTGGCCAGCCCAGGGGGAGCCGGTGACGAGGGGTGGAAAGGTTGCATTCTGTCCCCAGGCCCCGTATGAGCACGGGCTGGTTGCACGCATCCCCAGGCCCCCTCGGGGTGCCGCTCCGAGAGAGCCAGGCGTGCCGGGCAGCAGCCTCCCCAGGCTGTCCCCAAGGGCCGCAGTGTGGGTTGGGGGAGACACCACTCCTGGTTTTGGCCTTTTCGTATTCTCTAGAATGGACGTTTTTCTTCGGGCTTTCTTCTCAACAAGGTTTATTTTTTGTTGTAGCTGAAAGGGAACAAGGGGCATTTGTGGAGGGTGCTGGGGTGGGGCAGCCTGGGAGGGCCTGGGTGGGGGCTAGGATCCTGCAGGGCATGGGCATGGGCCTGGGCCCCAGGCCATGGTCTTAGTTCTCCCCGCAGTGTCTGGGTGCAGGTGTGGGCTCTCGGGCTCTCGGCTGTCACCTGCCTGTGGGTCATCGCTGCTGGCACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGAGAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTC
Task1_train_22125
A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Tuberous sclerosis 2
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22126
A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Lymphangiomyomatosis
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22127
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Isolated focal cortical dysplasia type II
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22128
Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Tuberous sclerosis 2
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22129
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary cancer-predisposing syndrome
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22130
Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Tuberous sclerosis syndrome
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCCCAGACCTCTGTGTGCTTGCCGGAGGCAGCCTGCGGGCAGAATGCAATCTGGGCCTGTCTGTGTGGCCTCCGCCTCTCTGCATGACTACACCGTTTCGCCAGGAGGCCGTAACCTAGTGCTCCCGTGGGCTTCGGTGAGGGGGATGTCGGTCTCTAGCCTCCTGAGTCTGCTCCGACCAGTAGGCCTGGTCTTCCCCACCCAGCGTCTCCCCGTTCTCTGGGACAATGTGGTCCACGTGATTCTCAAGCTGAGGCTCGCTGGGCCGCCCACGCCCTGTTGGGGTCTTTCCGAGCGAGGTCCTCAGCCGTGCATGCGTTGAGCTTTGGCCCTTGGTGATAGGTGGCTCGGCCCGCCCTACCTGGCACCCTGACCCTGGTCACGGCCTCTCCCTCCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCCAGGCGGCACTACAGGGCTGGGCGGGCCTGCGGGAGCTCCACGGGCAAGCTGGGTTTCACGCTCCCTGTCTTCTAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGGTGACTGCACCTTCCTTTCCTCCGCGCCTGCCAGCCTCGACACCGGCTGTCCCGAGCCCAGGCCCACGTGGCACCCTCGTACCAGCCTGGGGACTAAGTCCACCCTGTGCGTGGGATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGTGAGCCTTGGCCCCAGCCACCTCCACACAGGCACCGGGGCTCCCTCAGTTGCTGCTGGTCCCAGTGTTCAGGAAGGCCCCGAGCCCAGGGGCCGGGGTGGCTGGCTTCAGGCCCGGCCCACGTCCTGACTCTGGGGTGAGCCTTCCACAGCTCACCCCAGAGCCGTGGAGTGGTGGAGTGTGGCCCGCTTGCTGCAGAGGGGCCTGCTCTGGGTGCTGGTGTTTCCTGCGGGTTTTCAGCTCGGCTCAGTCCTGGAGCCCTTCTCTGCTCCAGCGAGCCGTGGTCTGACTGCAGGACAGGTTCTGGGTCCCTCCCTGTGGCCCTGGGTTCACTGAGGCCAGCACTGTGGTGGGCCGTGCCCCAAGGGCAGAGCTGCCACCGTCTCTGGCTGCCTGTGGCACTAGCTTGCCAGGCTCGGGGGGAGCATTCAGCTTGAGGCTGGTGGTTTTGCATCAGGTAAGTGGTGGTCACCAGTCCTCTGCCCTCTTCTTCAGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCTGGAGGCCCACAGGTACTGGGCGGGGCTGGCCTGAGCGCCATCTTTCTGCCAGTCACCCACAGAGCTGTGGACACTCAGGGGCGATTGCAGACTTGGCCCTCTTGGGATATTTGGGGGTAACTTTTGTTTTTTTTTTGAGACAGAGTCTTGCTCTGTGGCCCACGCTGGAACGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCTGGCCAATTTTTTTGTATTTCTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCATTTGGGGGTAACTTGTAAGTCTCCAGAGGTGAGCTGTGAGGGGCGATCCAGGTGGCTGAGGTGGGGCAGGGGCCTGTGGCGAACCAAGTGACTTCCATGGCAGAGAGTTGCCCTCCCCGCCTGGAGGCTGCAAGTCCGAGACCAAGGTGCTCCTCGGCAGGAGGTGCTCCTCAGAGGCCTCAATCCTTGGCATGCAGTTGGTTTTTTCCCTGTGTCCTCACAGGCTCTTTCCTGGATGTCTGCGTGTTAATCTCCTCTTGGGAGGAAACCGGTCATGGCTTAGGGTCCGCTCTGGTCCCTTGCTAGCCGTAATTAGCTTTCTGAAACCCAGTCTCCAGAGACAGTCCCGTTCTGAGTTCCTGGGGTTGGGACTAAAGCATACCAACATGGGGGCACAGCTCAGCCTGTTCCCAGGGGCAGAGGGAGCCCCCGCAGAGGCCCAGAGCCCAGGGACAGAGGGAGGCCTTTGCAGAGGCCCAGAGCCCAGGGGCGCCTGGGTGTGCCGTGGCTGAGGGGTGCAAAGAGTAGGGGTTCCAGCCCTCGTGGAGGCCTTGGGTCCGGACTGTGAGGCTGTGGGCTGGAGGCCGCTGCTCTGAGGTGCCTGGCGGAGCCTGGCCTCGAGGCAGGGGCTGAGCGGGGCAGCAGGGTGGGTGGCCGTCAGAGCAGCGCTGGCTCCGACATCGTGGTCCTGAGGATTGTGGGAGGGAGCATGAGGGCAAAACCAGGGCCCAGGCCAGGAGGCCCCTGGGGGGCCAGAGATGGGTAAGGGGAGGTACTGGCCTCAGGCCAAAGGTGCTGCCGCCTCCGCAGGGAACACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCGGGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGGTGAGTGGCATGGCGGGCCTTGGCACGGGCTCTGCTCCCACTGGCCTGGTGCTCCCGGTGACGGCAATGTGGCTCCTCTCTGCTGAGGGCGCCCACACGGCTGGGAGTGGTCCCTGGCCTGCCTCAGCACCATTGTTCTCCGGTGTTTGGGAGGAGGCTGACCCGTGGGAGGTGTCTGCCCTGCTCAGGAAGCTGGGGCTGGCAGCTTCAGAAGCAGTAGGGGCCCTGTGGAGCCTCTGCCCAGCATCCTCCGTGGGGAGTCCAGCACTGCGGGCTCCAGGAGGCTCTGCGGCAGCCTCCCTCCCTGCCTGGGCCCAGGTTTGGACACCTGAGCCCGCCTGCGCACTCTGGGCCCCCACCCCACTCGGCACCGTGCTTCTCGCCAGGCCCTCTGGCTCTTCCCTGTGGCTGCAGATGGCACTTAGCGGCCTAGGACGTCTATTCACGGGAGGAGGGAGGCACTGCCCTCCTCAGGTCTGCCCAAGCAGCTTGTAGCTAGCACTGGGCCCCGTGCGCGCCCCTGCCGGCCGCTGGCCCTGCCCTCTCTCCTCTGCAGGCACGGGGCCTGTGCTCTCTGCTCGACCTGTGTGTAGCCCCTCCTCCTGCTGACGTGG
Task1_train_22131
The gene TSC2 (TSC complex subunit 2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Tuberous sclerosis 2
CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAG
CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGACCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAG
Task1_train_22132
A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCGCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
Task1_train_22133
With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Tuberous sclerosis 2
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCGCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
Task1_train_22134
Here is a mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Tuberous sclerosis 2
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCTGGTGGGGAGTGCTGTGACCTGCATGGTGCTCCCCTGCCAGGTCTCCACGTGCAGACGAGCTGGTTTGGAAGGGCTGCGTGGGACGGGCCCTGGGGTGGCTGACTGCGCGTGTGCAGGGCTGTGGGGCGCCCGGGGGCTGTGATGGTCCCCTCTGTTGCTGCTTCTACTTCCTCTCCCCCTGTCCTGACGCTGGCACAGGAAATGCTGCTTTGGGACCTCCCACCCTCTCTCCTTAGCGTCCCCAGCTGTGGGTCTGGCTTGGAGTTGGAGGGTGAGCCTCTGCTCTTGGGAGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCTCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCC
Task1_train_22135
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Tuberous sclerosis 2
AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCA
AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGCTGCTGTCCCTCTGGTCAGGAGAAGGCTGGTTCTCGGAGGCCACGTCAGGGCCAGGGCCTGGCCCAGCCCCACATCCAGCAGCCCCGTCTGTGTCCTCCCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCATGGACAGGCGCACGGATGCCTACAGCAGGGTGAGTGTGGCTCAGAGCCTGGACCCTGCTGACCTCGGGGGGCTCCTTAGGGGAGGCAGGGCTCTGCGTGGGTGTGCCTGCACCCTGGGAACTGGCTCTGAACTTGGGGGAGATGTTCTTCCACATCCCTCGTGCACAGACGGTCTGCACTTTGCAGCCATCCACCTGGGCCGGCCCTGGCTGCTGGGCAGCCTGTGGTCTCAGGGGATGCTGATACCTCTGCTCACGCAGTGTGGGGCACAGCTGGTGGCAGTGCTGCTGCGTCAACGGGCGGGGGCCGTAGCCTGGTGCTCGGGCTGGTCTGTGGCCCTGGGATGGAGGACAGATAGGGCCTCACCACCTCCAGGTCAACCCCAGGTGGGCTCGAGGGTGCCTGCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCATGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCA
Task1_train_22136
This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Tuberous sclerosis 2
GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGA
GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGCTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGA
Task1_train_22137
The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Tuberous sclerosis 2
TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAG
TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCACAGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCCGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAG
Task1_train_22138
Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Tuberous sclerosis 2
GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCA
GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCTACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCA
Task1_train_22139
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Tuberous sclerosis 2
TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCC
TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCTACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCC
Task1_train_22140
Given this context: Chromosome 16, gene TSC2 (TSC complex subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Hereditary cancer-predisposing syndrome
CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGACAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
Task1_train_22141
This variant lies on Chromosome 16 and affects the gene TSC2 (TSC complex subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Tuberous sclerosis 2
CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGACAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCA
Task1_train_22142
Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATA
GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCCACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATA
Task1_train_22143
This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Tuberous sclerosis 2
ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAG
ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACTACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAG
Task1_train_22144
This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hereditary cancer-predisposing syndrome
GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAGTGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
Task1_train_22145
A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Tuberous sclerosis 2
GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAGTGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCG
Task1_train_22146
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Tuberous sclerosis 2
AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACAC
AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACCCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACAC
Task1_train_22147
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Tuberous sclerosis 2
GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACA
GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTGCAGAGGGCTCTGGCCTAAGCTCCCTGTGGCAGCCTGCCGTGACCGGCCTGGGTGGGGCGGCCTCCTGTGGACGGGCGTCTGGGGCTCAGGCAGGGCTCTGTGTGCCACAGTCACAGTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGGTGAGGCTGCGGGGCCGGCCTAGGTGCCTGGACAGGGCCAGCTGGGCCTCAGCCTGCAGTGGGTAGGGAGTCTGGGCCCCCAACGCCCCACAGAGCTCAACACTGCCGGGTCCCCTACAGCATGAAGTGCTCATTGAGCTCTGTGCCAGGTGCTGCTCTGAGTGCTGGGGACCCCGGTGCGAGTGACAGGTTAGCGTGGGAGCACCCGGCACACCAAGGAGTGGGAAGGACTGGGCGGGTGGCACCGGTCGCAGGGCTGGGGAGGGCGCTGTTGGTCAGTGAGCTGACAGCTGAGTGGTGAGGGAGCGGGCAGGGGGAGCCTGCATAAGGGGTGGGGGCATCCCACACACCAGCAGCGGGGGCCGGGCGCACCCTGCCCAGCTTGAGCACTGGTGCTGGGCGAGCACGGGAGCCGACAGGATGGGCAGCCTCAGCGCCCTATAGGCTGCACCTTCATCCCAAGGGAAAGGGCAGGGCCTGGGCTGCTTCTGAGCAGAGGGCACATGGCCTGACTCCGCCCAGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGTACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACA
Task1_train_22148
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCT
AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGGCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCT
Task1_train_22149
Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Tuberous sclerosis 2
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
Task1_train_22150
This mutation occurs in TSC2 (TSC complex subunit 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hereditary cancer-predisposing syndrome
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
Task1_train_22151
This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Tuberous sclerosis 2
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
Task1_train_22152
The variant affects gene TSC2 (TSC complex subunit 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Isolated focal cortical dysplasia type II
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
Task1_train_22153
Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Lymphangiomyomatosis
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCTGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGG
Task1_train_22154
A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Hereditary cancer-predisposing syndrome
GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAAACTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
Task1_train_22155
This variant affects the gene TSC2 (TSC complex subunit 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAAGCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAA
Task1_train_22156
The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Tuberous sclerosis 2
TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGG
TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGGGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGG
Task1_train_22157
A variant affecting Chromosome 16, within the gene TSC2 (TSC complex subunit 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Tuberous sclerosis 2
GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACG
GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAATGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACG
Task1_train_22158
Given a variant located on Chromosome 16 and affecting TSC2 (TSC complex subunit 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCGCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
Task1_train_22159
A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Tuberous sclerosis 2
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCTCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGA
Task1_train_22160
This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Lymphangiomyomatosis
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22161
A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Tuberous sclerosis 2
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22162
A variant was discovered on Chromosome 16, affecting TSC2 (TSC complex subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Isolated focal cortical dysplasia type II
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22163
This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Hereditary cancer-predisposing syndrome
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22164
The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Tuberous sclerosis 2
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22165
A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; TSC2-related disorder
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTCCCAAAGCCCTGCCCCTGGGGAGAGCCGAGGACCACTGGCCAGGCACCAGAGGACGTGGTCCCCGCAGGCCCCCAGAGCCCCTGGAGTAATCAGGAGGTGCCCCAGTGCAAGGCACAGAGGGCCTCAGCACTGGCCCCACAAACCCATCCGGCCCTGCTCACCCTCAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTTTGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGTGAGTGAGGGGCCGTCAGTGAGGCTGGGCCCCAGGCAGGTGCCCACTGCTGTGTCCCGGGTTGGTGGCAGGTCCTCCTCCCTGAGCTTCGGTCACGAGGAGCAGGAGGAGAGGCCGCAGTGCTCAGGGCCCCGTGGGCACGAGCTTCACCCCGAGCCTGCGTTGTGTCCTCTGTGCCCTGAAGCCTGTGGCGCCTGCTGCTGAGTGTCTGTCAGGAGTAACTGGCAAGTGCAGACTGGGTGTGCTGGGTGGGCACAGTGTAGTTGGTGCTTCCTGTCTGTCCGGCGCGGCCCTTGGGCCCCCACCATCTCCCCAGTGGCAGCTGTCAGGCTGCTCAGTTGGTTATCGCCACGCACCACTAGGCAGCAACCAGCGTCACCCTCTTCCTGGAGGTGGGCTGGGTCGGCCAGTGTCACAGCACGGTCCGGGTGAGCCCCAGCATGGCGGGGAGAGCTGGCATGGCCCAGGCAGGGCAGATAGGCTGGAGGCCTCACTCCAAGGGCCCCAGGATGCTGAGGCAGCCACTGAACCAAAACCCCGGGGCTGGTAGTCAGAGTCCAGGAGGGGCAGGAGCATAGGGAGGTGGGCTCTGCTAGATGCCAAGACAACCAGTTGGGGGGGGGGGGGCACCTGGGCGGCTGAGGAGGGTGTGGTGGTGCCGAGATGGGGTGCACGGCTCACTTCATGGCTGGGCAGACGGATTCGGACGTGTGGCTGCAGACACCCTGGGGGCCCCAGTGAGTGGAGGTGCCCCAGCAATTAGAGGTGTCTTGCCTGTGGCTGCAGCATATGTGGGTGCTGCGCCCAGATGTGGAGGGGGCTTGGCCTGGGGGAGGCCAGACAAACACAGCCCCGCTGCCAGAGGGGAAAGTTCAGGGGCAGATGCTGCCCATGGAGCTGACAGGTGTCTAGCAGTGCAACCAGGCAGTAGCCGAGATCAGCCTTCAGCACACGCTGTGTGCGGGGATGACCCTTTCTCTTGTCCGGGCAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACCAAGTCTCCCCAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATGTGAGTGGGGGTGGGTCCAGGCGTGAGCTGGTGGGACAGGCCCAGGTGCCACCTGATAGTGAGCTCACCCCCTGCCTACGTCCCCAGATGGCCTCACAGGTGCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCTGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGGTAGGGAATATGGGGCTCCCTCAGCGGGGTGTGCTGGCTGCCCAAGCTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCTACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAGTCAGACAGCTCTTTTATTGACTTTGTCTGCTTGGTGCGGGGGTTGGGGGGGTGTCGAGGCTCTAGAAGCGGCCATGCCCACAGAAGTGGTACACAGAAGCAGGCACAGCCAGCTCCGAGGGCCTTGAGGCTGCCTGGGCCATACAGCACACTCGCGCGTGCGCGCGCGCACACACACACACACACAGTCACCTTCCTCCACCCTGGGAGCCAGCCCCCAGGAGGAGTCTTTTCCTCTAACCACCCTGGGGTCCTCTGACATGCCTAGTCCTGCTACTTGCCCAGACCTGATGCCAGCAGGCCTGGGCGCTGCTCTCTTGCTACCTGGCCTGGGGCAAGGGAGGATGACAAGGCCTCTGGGGTGATGAGAGTGCCTGGCAGACAGCTGTGCCCCCAGCACCGGCCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCA
Task1_train_22166
Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Polycystic kidney disease, adult type
CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAG
CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCACAGCCCGCTGTACCTGAGGACTCGGGGAAATAAATTAGCATCTCAGAGGCTAGAAACCGTCCAATACTGCTGTGTCCTTCCCAAGGGAGCTGGGGAGGGGACCCTGGGTCCTGGTTGGCCACACAGCCTCTTTAAAGTGCTGAAGCCCACAGACAGACAGATGCCCCTGCCTGCTCTCTGGGGAACCTACGTGCAGCCATTCTGCCTGGCCCTCGGCCTTGACAGCGGCAGAAAGTAATACTGAGCGGTGTCCACTCCGACTCCACGGCCCACCCCCGCCAGGAAGGAGGACTAAGTGCTGCTGGGGTGGACCTTGTTCTTGGCCCGAAGGGGTGTCCTGCTGGGGCCAGTGGCCAGGTCCACACCCCGACTGGCCCGGGCAAGGCGGCTGGGCAGTGCTGGCCGCAGGCCCGGGGATGGGCCACGGGAAGATCCGGCGGGCGCCCGGCTGCTCCTGCGGCCTTGCAGGCTGTGCAGCTGCTGCTCCAGCTGGTAGACGTCCTCTGTGGCCTGGTTGAGTCGGTCAAACTGGGTGAGCAGGGCCTCGAACACGGCTTGGAGGCGGGAGGGCTCAGGCTCACACCTTGTCCCCAGCCGGCCCAGGCTCACGCTCAGCCCATCCAGCTGGCTGGAGGAGGTGGAGGGGTGCGAGGCATCGGAGCCAGCGCTGGGTGGGGGCACATCCGGGGATACCTTGGAGCCCCTGGAGGAGCGAGAGGGCAGCGGCTCCATCCCTTCAAAGCGGACTTTGTGGCGGAACTGGGGGCGGCACAGGGGCTCAGTCAGTCCGGCTGCACCCTGGGCAGAGCCCAGGGCGTGTCCCTCTCCCCCCCACTGGGCCGTACCCACCTCCTTGACCTTGCTGAGGCCCATCCAGAGGCGCAGCCTGCGCAGGAACAACTCCACCATCTCGTAGTCCTGGGGCTCCCAGGCCGGCCGGTACAGCTCTCCACGCAAGGCGTGGTAGCGCCAGCGGAGAATAACAGCCCCCAGCCGTAGGGCGCCCCACAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCGGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAG
Task1_train_22167
This variant lies on Chromosome 16 and affects the gene PKD1-AS1, PKD1 (PKD1 antisense RNA 1| polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Polycystic kidney disease, adult type
CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGC
CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTTGCCAAAGACGGACCACTGGCGCACGAAGCGTAGCTGCTGGGCAGCCTGCGGACGAGAAATCTGTCTGCTTGCAGCCCTGGGGTGTGCGCCCAGCCCCGCGCCCACCGGCCCAGCCCTCACCTTGACCAAAAGCAGGAAGAGCAGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCACACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGC
Task1_train_22168
This alteration in PKD1, PKD1-AS1 (polycystin 1, transient receptor potential channel interacting| PKD1 antisense RNA 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Polycystic kidney disease, adult type
AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACCGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGCAAACTATGATTGGGTCTCAACCATCCAACAAGCATCTCTACAATCTAGAGACGCCAGTGTGTCTGTCCCATGCAGGTTTATGGCCTAAAATTAACTTCTGGACAAGGAAACATATGAATGCCTTTCAAATCCCAACAGTGTGTAGGGCTCCCTGAGGCCAGAGATCTGCTTGTGTCTCCAGGAGCCAGTGACCACCGAGGCTGTGCCACTGCATCGGGCCACCATGCTGATATGCCCGGTCCCAGAGCTGCTAGAGAAGAGGTACAGAGGCAGCGAAGACACGTTGAGGGGGAGGACGAGACCAACTGCGAGACGCCGAGTCCCGGGCTCTCAGGACGCTCTCCCGTACCTGCGCCCTCGTCAGCCCATCACCGAAAGAACGGCCTGACCCAGGGTCACACTGCACTGAATGCTTCCTGTTTTGCTGTCTCTCGGAGGATAAAAGACACTCTTGGCTGGGCG
AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTACGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGTGAGACGCTGCCGGGGCGGGGCCCCGCGAGGGGGCGGGACGCTGCCGGTGGGAGGCGCGGGGTCTGGCCGGGGACGGGCGTACCGAGGTGAGCAGAGGCAGCGAGAGGCCCGCGCTGAGGCGGCGCAGCGCAAAGGGGCGGACGCTGAGGGCGGCCAGGGCGCGGCCGGCCGCCGGGAACTCGAGGCGCAGCGTGACGGCGGCGTGCAGCCCCACGGCCGGGCTGTAGCGCGTGAGCTCCAGGAACACAGCGCGGCTCCTGCGCAGAGGGTGCGGGTCAGTAGGAGCGGGTGGCAGGGCGGGAGCTGCGGGGACCGCGCAGTGCAGGCGTGGCTGAGGGGCTGTGGAAGCCGCCTAGGCCAGCGGGGGCCGGAGGAGTGAGGGTGGGCTCCTGGCTGGTGACTGCGGCCACCCCGGAGAGGGCAGGGGAGGGAGCTCCCACCTGTTGTCCAGCCAGTTGTGCAGCTGCAGGAAGCGCAGCCGGTCGCGGCTCTCCTCCAGGCTCAGGCCCAGCTCCTGCACGTAGCCCCCGCTGTCATACACGGCACAGGAGCCCCAGGACCATGCCCTGCCGGAGAGGGGTGGCGTGGGTGCCGCACCCCAGCCCTTCCGGCACCCCGGAGCCAGGCTGGTCAGGAGGCCGCGGCACTCCTGGAGAACTACTCCCTTGTCCTTGGCGTAGACGCCCGGGGCCCTCGCTCTGCTCACCCCAGCAGATCCGGCGCTGAATAGGCCCACGTCCCCGAGCCATTGTGAGGACTCTCCCAGCCAACGTCGTAATCGCTGGTGCTGAAGCCTCCTGCGGCCGAGCACGTGTGGACCCTGGGGCCGGGAGGGTCTGGGTAGAGTGCTGAAACACACAGAGCCCCAGGCCGGGGCCAGGGCCTCATCAAAACCCAACAGGAGTGTTTCCTGCTGGCCAGCTCGCCTGAGCTCTGGTTCGGCGCCACCCCAGGGAACCCTCCCAGCAGCCATCAATTAGACAACGTTACCATCTCTCATATACAGAGAAGGAAACGGCGGTGTTAAGAGGGCAAAGGTCACACAGCTAGGGAGCAGGGCTGATGCCAGAGCTCCGCTAAAGGCTGCTCTCTCAACAAGAGGAACGATTTAAGTCTTGGGGCACGCCCTGCCAGCTCACCTTCCTGCAGCCGCACCTGCCGCAGCCGTGGGGGCCCCAGCTCTGGGCTGGACTGGTTCCCGTGGACGTAGGGCAGCAGCACGTGGGCCATCCATGGCCAGAGCTCCTCAGACCTGCCACAGCATCAGTCACACGCTCCAGCCCCTACTGCCCCATGCCCGCCTCGAGTGAGCGGCCACCAGAGACCCAGGGAACATGGCTCCCACTGCCCTGCTGGCCACGGCTAGACCTGGGCTTCTCAGCCTTATCCTGGGGATGTTCTGGGGCAGACAGTTGTCTGTCATGGGCCCGTCCTGTGCACTGCAAGACACGGACCTGTGTCCCTCCCCTCTGCCTACTGATGCCAGCAGCACCTACCTCCAGTTCTAGCAGCCACAAAGGTATCTACACATGTCCACATGTCCCCTAGGGTCTGGCTGGACTAAAGGCAAAACTAAAGCCCAGAAGACAGACCAGTGCACCGGATGCCCGTACTGCGTGATGGCCAGGAAGGCCCGGCTGTGCAGCTCCTGCTTGATGGCGCTTTGCAGACGGTAGGCGTGCCCATGGCATGAGGCATCCCCATAGCTGGCCAGCAGGGTCACCAGCAGAAAAAGCATGTACACCAGGAGGCTCTGGTGGACGGGGGGGCCCTGTGGTCAGCCTGGCCCCAGCCCACAGTGACAGCAGGGCTTTGGCAACGGCTGGAGCCATGGCTGCGGCAGGTGTGGCTGCAGGAAGGTGAGCTGGCAGGGGGCGCCCCAAGACTCTACCTGGCCAGGGTAATGGCAGCACACACCCTGCCCGGAACCCCACCTGGGGGCAGACACACAGGCCACTGCAGTGGTGCTTAGGGGCCTTCAGGGCCAGGCAGGAGTGGGCATTGGAGCTGGGCCCTGGCAGGGACTGGGGCAGCAAGTGGGGGGCGTGGGGTAGGAGGGAGACCGGGCAAAGGCTGCAGAGCATTGAACCCCTAAGGGCCTTCTGAGGTGAGGAAAGGGGGACAGGAGTGTCCTGCGTGCATGGGTGGGAGGTGGGAGACAAGAGACGGAGGTGGCAGGGGCACAGGCCGCACCCAGGCTCACCCGCAGCATGCCATGTAGCCTCTTGACCTTGCGGGCTTCTTCCTTGGCCAGGAAGAGTGCAAAGCCGTGGGGTGGCCGTACGCGGGGCACACGTGCGCTCACAGGCGTCACAGCCGGGCTCTCTACCAGGGTGTCATCTTCATCCGGGTGCAGCCGCTTGGCCACCAGTGAGAAGTACAGGGCTTCCAGCAAGACCTGGGGAGGGGGTGGCTTCAGAGGGGTCCCCCGTGATGGAGGCCTGTAGCCTACCCCTGGCAGCCCCCTCACCTTCAGTGGCTCCCAGCCGAGGAATGAGGCCAGGAAGCTGGCGCTGCTGGACAGGAGCCACGCAACACTCACGCCCGGGGGGAAGCTCGCACCCACCCACCCTGAGACAGCCACAGCCACAGCCACCAGGAGCAGGCTGAGCCCGTGGGCCAGGGAGGCACACCAGGCCGGCAGCAGGCGCTTCCGCAGACCCTCCACCAGTCCTGGGGAAGCAGAGACAGACCTGTGAGAGGCAGCTCACAGGGAGGGGCTAGGGGCATCCCGGGGCTACGCAAGCACACCTGTCCTGGACAGCCTCGCTGCCTGGGGCTGTTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCCCCAGCCTCTGCAGCGCCAGCGTCTCTGTCTTCTCCCCAGGAGTGCTGGACCTGAGGGACATGGTAGGCTGTGAATTCATCCCGGCCTCCAGGAGGCAGTTGCAGCCAAGCCCATGTTAACCTGGGCGGGCAGTTTCTTGAGCCTCTTGGGTCACAGGGTCCCCCCGACAAAAAGCCGGAAGACCCTACCCCAAACGAGAGTGGGAGTGGTGCTGGGAGCCAGGGAACCAAGAGCCACTCCAGGCACCGAAGTCAGGCGTCCGCCTGCGTCCCTCTCCCGCCCGCTTGCTGCTGATAAACCCATCGCCCACAGCCTGACCAGCTGCCCTTACAGCAGTGCACAGTCTCTCAGGGTGCAATGAGCCCCCCTTCAACCCTGCAAACTATGATTGGGTCTCAACCATCCAACAAGCATCTCTACAATCTAGAGACGCCAGTGTGTCTGTCCCATGCAGGTTTATGGCCTAAAATTAACTTCTGGACAAGGAAACATATGAATGCCTTTCAAATCCCAACAGTGTGTAGGGCTCCCTGAGGCCAGAGATCTGCTTGTGTCTCCAGGAGCCAGTGACCACCGAGGCTGTGCCACTGCATCGGGCCACCATGCTGATATGCCCGGTCCCAGAGCTGCTAGAGAAGAGGTACAGAGGCAGCGAAGACACGTTGAGGGGGAGGACGAGACCAACTGCGAGACGCCGAGTCCCGGGCTCTCAGGACGCTCTCCCGTACCTGCGCCCTCGTCAGCCCATCACCGAAAGAACGGCCTGACCCAGGGTCACACTGCACTGAATGCTTCCTGTTTTGCTGTCTCTCGGAGGATAAAAGACACTCTTGGCTGGGCG
Task1_train_22169
The gene PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Polycystic kidney disease, adult type
CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGGGCTCCGAGTGTAGGTAGACTGCCAGGTAGGGCTCAGGTTCCTCAGACAGGTAGTGGCCTGGGGCAGAACGCGCAGGTCACACGCCTGCCGGGAAGCTCAACCACCCGGGGGACACCCACGATGGCCCTCCTGAGCCCACCCTCTGCCACGGGCCTGAAAGGCCATAGGAGCCTCTGCACCAGAGCTGGCACCTGCTTCTCCGTGGCCCCCAGCTCCTCTCTGGCCAGGCCCCCAGCAGCCCATGAAACAGAAAGCAAATTTCACCAGAGACACCCATGGAAGCCCTACGAGAAACGCCTTCCCCCCAAGAACAAGGCCAGGGGGCCGCGTGTGCCCCACCCGCTGCACGCACCGTCCAGCAGCGTATAGTTGAGCTGCAGATGCAGCCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGCTGAAAGCCTCGGGGATGGAGAAGTGGCAGCCAGGCCCTGGGGCGCCGCCATAGCACAGCAGGCTCCGCGGGTCCGAGCGCTTGCCCTGGGCCACGATCTCCTCGCCCGCCAGCGTCAGGGGCTCCTCGTTGAGCACGCGGGAGCGCATGAGGATGCGCATGAGGGCAGAGGTCAGGTTGTAGGCCTGGGACGCCACCATCCGAGATGGTGACTCGGCTCCCAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGCCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAAAAAGGGGAGGGGAGGAGGGGAAGGGCTGGGGGGGAAGAAGGGAAAGGGCTAGGGGAGGGGAGGAGGGGAAGGGCTAGGGGAGGGGAGGAGGGGAGGGGCTAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGAGTGGAGGGCACAGAGCAGCATCTTCTTAGTCCCTCCCCACATCTGGGCCCCTCTTTACACCCTGGGTCCCCCGAGAGGCACCCTGCGTTCACACAGGACAGAACGGCTGAGGCTACTGAAGCAGGTCAGAGACCGAGGAACGCCATGGCAGGAAGGAGCCCAGGCTGGAGGCTCAGCTCCTCGGCCAAGCTGCCCGTCTGCCCTGGGGGGCTGAACCCAGTGCCCTGGCAGGCATGCGGGGCAGGGTGAGCAGGTGGGGCCATCCTACCATGCACTGGGCCAGCGCAGCAGCGATCTGCTGGATGTCATCCACAGTGTGGACCCTCAGGGACACCAGAGTCTCCGTGATGTTCTTGCGTATCTGGGCTCGGTGCTGCCGCTCGTGCTTGGGCTCTGCCGCCACGTCCAGGGCCCGCTCGTACTGGGGCAGGCAGGGGGCACAGCAAGCTGTCAGCAGCGCAGGAGGCCGGCAGGAGGCCAGCAGATGCCCACGACTCCCGGGGTGCAGTTACGTGCTAGACGCTGTGTGATGCGGGCACTGACCCACAACACTGAGCTGTTTCTTCATGGGCAAAACAGGGTAAGCACATGGGCCCTCCTGGGCGGGGGCTGCATTGTGGAAAGCAGACGCCGGAGAGGGCCCGGTGGGTGTGGCTGCTGGGAGCGGAAGGTCGGGGTGCTGCTTCAGGGTCACTGGGATTTATCTCTGGGGCCCGGGATGAGCCCTCTGCAAAGCTCCAGGCAGGGGTACAGGTCTTGGTCCCAAGCACGCATGCAGCAGATGTGACGTCCCCTCCCAGGCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACAGAACTCCTCGCAGTGGCCCTGGCGACAGCGCCGCAGCAGCAGGGCGTACACCAGCGGGGCGCCAGCATCCTCCGCGTCATGCCAGCCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGC
CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGGTGTAGGGCCGGTGGTCAGCACCCTGGAGTGACTCTGGGCGGATCCTCCTGCTAGCCGAGCAGTTGTGCTCATTGGGCCGGGGCTCCGAGTGTAGGTAGACTGCCAGGTAGGGCTCAGGTTCCTCAGACAGGTAGTGGCCTGGGGCAGAACGCGCAGGTCACACGCCTGCCGGGAAGCTCAACCACCCGGGGGACACCCACGATGGCCCTCCTGAGCCCACCCTCTGCCACGGGCCTGAAAGGCCATAGGAGCCTCTGCACCAGAGCTGGCACCTGCTTCTCCGTGGCCCCCAGCTCCTCTCTGGCCAGGCCCCCAGCAGCCCATGAAACAGAAAGCAAATTTCACCAGAGACACCCATGGAAGCCCTACGAGAAACGCCTTCCCCCCAAGAACAAGGCCAGGGGGCCGCGTGTGCCCCACCCGCTGCACGCACCGTCCAGCAGCGTATAGTTGAGCTGCAGATGCAGCCCGGCCGCAGGGTTGCTGCTGTCCAGGGTGACCACAGCACCGACGGAGGCCTGGGGCTGGACCACAACGGAGTTGGCGGAGTTGGCGGAGCTGCGGTGGCCCCGGGCAGCCCAGTCCGAGTTGTTGGGCACCTTCACGGTGATGGCGCGCTCTGAGGCCAGCCGCTCGATGGGGATCTGGGCGCCGGCCTGTGTCTGGAATGCCATCGAGGCCACCTTGGTGGAGACGGTGTAGTTGCTGATATAGCCAAAGGGAAAGGGATTGGAGTCCACCAGAAAGATGAGCTGCACCACGTCACTGAGGTTGGCCAGGGCCCCGCTGAAAGCCTCGGGGATGGAGAAGTGGCAGCCAGGCCCTGGGGCGCCGCCATAGCACAGCAGGCTCCGCGGGTCCGAGCGCTTGCCCTGGGCCACGATCTCCTCGCCCGCCAGCGTCAGGGGCTCCTCGTTGAGCACGCGGGAGCGCATGAGGATGCGCATGAGGGCAGAGGTCAGGTTGTAGGCCTGGGACGCCACCATCCGAGATGGTGACTCGGCTCCCAGCTCTGAGGGCTGTGGTGCCCGCACGTCCGAGCTGGCCAGGTGGATGAGGTCTCCTGCAGACATGCGTGAGGTCAGTGCAGAGACAGGGAGGTAGAGGGAGGGTGGGGGCAGGCAAAAAGGGGGAGCCGGAGGGTGGGGGCTGGGAGAAAGGGGGAACCTGAGGGGGCAGAGAGCGAGGTGCAGGCAGAAGGAAGGGGGAAGCTGGAGAGAGAGTGGTGGAGGGGGGAGGGGGAAGGTGATGGGGATGAGGACGAAGATGAGGGGGATGATGGGGAGAGGGAGGAAAAAGGAAGGAAAAGGGTAGAGAAAAGAGAAGGGAGAAGAAGAGGAGCAGGGGGAAAGGGAGGGGAAGGGGGATAAGGGAGGGGAAGGGGGATGAGGGGGATGAGGAAGATGAGGGGAATGGACAAAAGGACGGGGAGGACGGGGGGGGAAATGGAGAAAAGGGGAGAGAGATGGAGAAAAGGGATGGTAATAGGGAAGGGGGAGGGGGAGGAGAATGGGAATTGGGGGAGGGGGATGAGGATGGGAATTGGGGGGAGGGGAGGGGGACGAAGATGGGATGGGGCAAAGGCGACGCGGTTGGGGGGAGGAGGGAGGCAGAGGAAAGGGCCGCACGGGGCGGGCGGGTGGCATGGGGCACGGGCCGCGGCACCTGTGATGTTGAGGATGCTGTCTCCGATGGCGGTGGGCGTCACGGTGCCCGCGGTGGTCTCTGTCTGCAGGATGAGCATCATGGCCTCCAGCTTGTGCAGCGTCTGCTTCAGGCACGAGCGGCATACGAGCTCCCTGCTGGGCCCCTGTGTGGAGCCAGCAGTGTCCAGCCCCGCTCCTGGCCCCACTCCTTGCACACGCCCTCCTCTCTACACGGGTCCTCACCTGGCTCCCACCCCCAGCCCTGCAGCTGGAGAGCCCACTTGACTGGACCCCCACAGCCTCCTCACTAAGCATTTTCTGTGGCTCTGCATGACCCAGGGCCTCCACCTGGGGACCACGTGATGCAGCCCACCGACCACACAAGGCACCTCTTCACATGAGAGCGGAGGAGGAGGGGAGAGAGGAGAGGGGAGTGGAGAAAAAGGGGAGGGGAGGAGGGGAAGGGCTGGGGGGGAAGAAGGGAAAGGGCTAGGGGAGGGGAGGAGGGGAAGGGCTAGGGGAGGGGAGGAGGGGAGGGGCTAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGAGTGGAGGGCACAGAGCAGCATCTTCTTAGTCCCTCCCCACATCTGGGCCCCTCTTTACACCCTGGGTCCCCCGAGAGGCACCCTGCGTTCACACAGGACAGAACGGCTGAGGCTACTGAAGCAGGTCAGAGACCGAGGAACGCCATGGCAGGAAGGAGCCCAGGCTGGAGGCTCAGCTCCTCGGCCAAGCTGCCCGTCTGCCCTGGGGGGCTGAACCCAGTGCCCTGGCAGGCATGCGGGGCAGGGTGAGCAGGTGGGGCCATCCTACCATGCACTGGGCCAGCGCAGCAGCGATCTGCTGGATGTCATCCACAGTGTGGACCCTCAGGGACACCAGAGTCTCCGTGATGTTCTTGCGTATCTGGGCTCGGTGCTGCCGCTCGTGCTTGGGCTCTGCCGCCACGTCCAGGGCCCGCTCGTACTGGGGCAGGCAGGGGGCACAGCAAGCTGTCAGCAGCGCAGGAGGCCGGCAGGAGGCCAGCAGATGCCCACGACTCCCGGGGTGCAGTTACGTGCTAGACGCTGTGTGATGCGGGCACTGACCCACAACACTGAGCTGTTTCTTCATGGGCAAAACAGGGTAAGCACATGGGCCCTCCTGGGCGGGGGCTGCATTGTGGAAAGCAGACGCCGGAGAGGGCCCGGTGGGTGTGGCTGCTGGGAGCGGAAGGTCGGGGTGCTGCTTCAGGGTCACTGGGATTTATCTCTGGGGCCCGGGATGAGCCCTCTGCAAAGCTCCAGGCAGGGGTACAGGTCTTGGTCCCAAGCACGCATGCAGCAGATGTGACGTCCCCTCCCAGGCTGCACTCACCTCGTTCAGCACGGTGACCAGGGCCAACGAGTACTCGATGACGTGCTGGGGATCGGCCTGCCGCAGCAGCCCTGGGAGCACACTAGCGGTGAGCCCGTGCAGCCAGACTGTGAGCCCCGTTGCGCTGCCGTTGGGCTCTGGGAGGGTGATGGCCAAAGACCTACGAGCAGAGGGGGGTGGTGAGCAGGTGGCAGTCTCGGGGGCGCCCTCCCACGGCCTGGCTCACCTGTTGAGGGCGACCACAGCGGCTCCCAGCTGGTCCTGCACCACCACGGCCAGGCCCACCTCGAAGTGTGGCCTGAAACCCGGGGGCAGCACGGCTCCGTAGCTGGAGAGGCTGCCCTTGTAGACACAGAACTCCTCGCAGTGGCCCTGGCGACAGCGCCGCAGCAGCAGGGCGTACACCAGCGGGGCGCCAGCATCCTCCGCGTCATGCCAGCCTGAGGGACGGTCCCCACGGCATCACGGGAGGGCTCCGTGACGTCACAGAGTCGGGGGATCCCGCTGCTCCCCCCACGCAGGCCTGCACTCACCCGTGCATTCGAAGTGCACCTTGGTGGTGAGGGCGTGCACAGCGCCCAGTGGGAAGAGGCGGCAAGAGCCCCCCAGCGGCGGGCGGTTGGGGGACAGGCGGATGGAGGCGCAGCCCTCCTCCTCGCCAGAGCGGCCCAGCACCGTGAGCGTGAAGGTGTATCCCTCGCCGTCCCGCAGCACGCCCCGCCGCAGCACCAGTCGCATGCCTGC
Task1_train_22170
Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Autosomal dominant polycystic kidney disease
CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTG
CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCCCAGGGGCCTGGCCACTGCCGGTGAGCTCACTCCCTCCCAGGATACTCATCCGGTTTGCCACCTTCCAACTTGGACGGCGGAAGGGCATACACAGGGCAGAGGACACTGGAGTGTGCGTTCTGGTGTACTGGACCCAGCTGGACCCTAGCAGGAGGCAGGCAATGCTCACTGAGGGCCCCTGGGGGGATGCGTGTGAGAAGAGACGTATGTGTGGGTGTGAGGACCGCAGCTGCCACGTAGGCCTGACTCACAGACTCCTGCAGCCCTTAGCCAGGGCCTGGGTCAGGAGGCTGAGCTGGGATGGAACCTGCTCCCACACCCTCCCCTCAGACGACCCCTCTGGGAAGACCCCCAATCAGGCCAGCTGAGGAAAGCAGGGACTGGGGAACAGACGCCCACTCTGGGGCACCAGCAGGCCCCGCCTGACAGCAGCAGGAGCAGCCACCACGGGCTCAGGGTCACCAAGCCTCCTGGCCGGTCCAGAGAGGGGAGCGTGAGGGTGAGAACCGGCCCACCACATCCAGCAACAGGGACATGGGCTGGGGACAGTGGCTACCTCTGGGGTGGGAAGGGGCTCTTCCTCACTGTTGGTATTGCTAGGGGACTGTGTAGCTTTTGCCACTAGAGCATATGTGGCTTGAAGACTGTACGTGGAACTGTGGCAGGTTTGGAAGGAAGCAAAGCTGAAGCAGGCTGTCGTGTTACATAGAATTTGCATCAGAAACAGAGAGGGGAGAGCGTGCGGCCTCCACCAGCACTAAAACACGGAAAACAGTAGATGACCAGGGAGGCTGGGCTGTCCAAGGCAAGTGGCCGAGGGGCGGGCGGCACCCACCGTCTGGTTGGTGGCCTCCTCCTTGCGGCCGGCCTTCCACACGGTCAGGCTGAAGGTGTACTCCACGCCAGCCGCCAGCCGCTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCGCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTG
Task1_train_22171
This variant lies on Chromosome 16 and affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Polycystic kidney disease, adult type
CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCG
CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAACTGAGCGGCGTCTGGTCGCCGTCCTCCAGGTTGGGGTCGTAGGACTCGCTCCCATCCAGCACCAGGTCCCGTGTGTCTGACCACACGCGGTATGAGCCACCCTCAATGATGGGCACCAGGCGCTCGGGGGCCACCGTCACATTGGCCTGGATGCTCTGTGTCAGTGGCGTGTCCCCAAATGACACGACAAACACAAAGCAGTAGTGCCCCACAGGCAGCGCCAGCCGCGGCAGCACCAGCCGAGGCCGGCTCACGTCCACGCCGGGCAGGGCCACACGCGCTGGGCGCCCCGGCCGCTGGCAGCTGGCGGTGCGATACACCTCCCAGCGGTACTCAGTCTGGTAGGTGACGCAGTCGCGCAGGTCAACGTGGGCCTCCAAGTAGTTGCGCTGTGATCGCCGCATCAGCACCTGCAGGGGCAGGACCACGTCCACCTCCGGCTCCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCGCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCG
Task1_train_22172
Here is a variant affecting PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Inborn genetic diseases
CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGGGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCGAGGACGGCACCGCCTCCAAGTGCAGCTGCACTCGGGGCAGCAGAGCAGCAAGAGCCAGGCCCGGGGAGGGCGGGGGGCGCAGTTCAGGGGCCCAGCTTCCCTGTCCACTCCCCCCACGCCTGGCCCCTCCCTCACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGC
CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCGCGCACCTGGATCTCCAACAGCCCCGCGGCCACGGGCGTGTAGGTGACGTCGCGGCCCGACAGGATGACCAGCGAGTCGCCCTGGACCTTCTGCAGCGAGAAGTACCAGGCGTAGGCGACCCGAGAGCCGCGCTGCACGCGGGCTGTGAAGTTCCTCTCAGTGCCCGTGGCGATGCCAGGCTCGCAGCAGTTGGGCACCTGCAGCCCACTCACGGCCTCCAGCACCACGATGCGCACCTGCGCCTGGGCCCAGCTCACGTGGTTTTTGCCCCGCACGCTCACCACGTGGTCTCCGACGCGGGGGAAGCTGTGGGAGAAACGGGGCCCGGGGAGCACCTCGGGGTTGGCCCCGCCGACCTGCAGGCGGAAGGTGACAGCTGAGCCGGCAGCCAGCAGGATCTGAAAATGGACCAGCTGCCCGGGCGCCACCACCTTGCTGCTGGCCCACAGCACCAGGCCCACGATGGGCTCCTCCGCCGTGAGGTTGTACGTGGCTGAGACCCAGCTGACTGCGTTGGAGGCATTGAGCCGGATGGAGAAGGTGCCAGCATCCGGGAAGACCATGGTGACATGAGGGCCACGCTTGCTGCTGCCGCCGGGCACAGCCCAGCACCAGCTCACATTGGTGCCCGTGGCCAGCTGCCCCCAAAAGGGCACAGAGGACCCGGCCGCCACGAAGCTGCCTCCGGGCTCGCTGGCCCTGATGCTGAGGCCACTCACAGGCACCTGCACATCCACTTCCACGGTGGCGTTGGCTGAGCCCAGCGGGTTCCCTGCCGTCATGGTGACCAAGTGCAGGCCGGGTGTGGGGAAGCTATGGGTGGTAAATGGCTCGGAGGTCTCCCAGCTCAGCCCCTCCTCCAAGGACCAAGTGTATACGACACCACTGCCACCAGCCAGCTCGGCACTGAGGGTGACGCTTGTGTTGACGGCAGCTGGGTTCGGGGAGGCGGCCACCATCAGCCACCCCACAGGCTCCACGAAGTCCATGGTGCAGTCGGCCCAGGCGCTGCCCAGCATGTTGGTGGCCCGCAGCTGCACATGGTAGGTGCCGGCCTCGAGCACGGTGAGCGAGAAGCCTTTGCCGCTGCCGGCCAGGGCCGGGCCCCTGTCCCTCCAGGCAGTCCAGCTGTAGGAGACGTTGGTGCCATCCCTAACCACGGCCTGCAGCTGTACCGTGTGGTTGGTGGGGAAGTAGCGGCCACCGCCCACCACCTGCAGCCCCTCTATGAGCTGCAGGACATAGACGAAGATGCTGTCCTGGGCGGAGCCCACCTCGTTCTCAGCCGTGACGATGATATTGAAGGTGCCCACGGAGCGGAAGGTGTAAGAGATGGTAGGACCCCCAGGGATGGGCGTGCAGCGGTCACAGAGCACCCAGGAATAGCGCACATCACTGCCGGCCTCCAGCGACGTGCTGAAGCTCACGCTCCCATTCAGGGGCACCACCGTGCGGCTTGCATTGACGACGAGCCCCCGCACGCGCCGCTTCACCGTCACATTGAGCCAGGCCTCGCTGCGGCTCACCTCATTCCAGCCGGCCACCCTAACGGTGAAGTCACCTGTGCTGTTGTAAGCGTGGGTGACCTCCGGACCCTCGAGCCACCCACCGTCCCCCAGATCCCACAGGTAGCTGGCGGGGCGCCCACGGCCCACAGCAGAGAACAGGTACGGCTGCTGCAGCTCCAGCCCAAGGGAGCCATTGACCTTGATGCTGGTGACCAGCACGAGCTCCTGCACCTCCACCAGGGCTGAGTCATTGGCAGCAGAGATGTTGTTGGACGCGGTGACTGTCACAAGATAGGAGCCTGGGTCTCGGTAGATGAACGTCACCTCAGGGCCCCTGGCACGGGTGGGGGCGGCTTCCTCGGTGCCAAAGTCCCAGGTGTAGCGGTAGGGGAACGGGGGCCAGGCACATGCCACCAGCCAGGCCTCGTCCCCGAGCTGCACAAACTGCCTCTCTGGCTGCAGGGTGACGTTGCCCACCTCTGGCTCCACGCAGATGCTGGTGAAGTAATGCGCCCTGTTCACGCGGCTGGACAGCACCAGCGCCAGGGGGAACGTGCCGCTCCGCGTGAAGTTGTGTGTCACCGTCGGGCACCCCCGCACGGTCGTGTTGGAGGAGCCATCCCCGAAGGTCCAGTCGAAGAGGTAGTGGGCCGGGTTCCCGGTGACGTAGGCCGTGAGCCGCGCGTCAGGCTGCGTGGGGATGCAGGCGGCGGGTTCAACGCGCAGCACCTCCAGGACGAAGACCAGCACGTGCAGGCTCCGGGCCAGGTGGCCGGCGGGGCTGGCCGCACCCACGGTCACTGTGCAGTTCTGTGCCCGCAGGTACACATGCTCCACTGTTGCCTCCGGGCCCGACAGCACGGTGCCGTCCCCCATGTCGAAGGTCCACGTGATGTTGTCGCCCGTCTGCACCGCGGCGCTGACCACCACGGGGGCGCCCTGCTCCACGGCCAGGCTCATGTCCACGCTGAGTCCGCGGAGCTCCTCAAAGACGCGCACATCCGCCTGGGCCGCCGCACCGCTCACCGTGTTGTTGACCTCCAGGCGCACGTGGTAGGTGCCCCTCGAGGCATAGGTGTGGTTGGCAGCCGGCTGGCTCTGGGTCAGGACAGGGGAGCCGTCCCCGAAGTCCCACGTGTAAAGAACACCCCCAGGCGAGGGCAGCGGGTGCGGGTAGAAGGTGACGGGCCGGCCGGCCACCAGGACGCCGTCACTCACACCCACAGCCACGGAGGGCAGGGAGGCGCGCACGCTCACAGGCACCTGCTGCGTCAGGTTCTCGAAGGCATTAGATGCCAGCACGGTCAGGAGGTACTCACCTGTGGGGACAGGCCCGAGTGGGGCAGCCGCGGCACCCCCACCTGCTCCCCACCCGCTCGGCAGAAGCCCCCCGCCTGAGGAGCCCGGGGTGAACGGCTGCACCTGCGGCCCAGCCTTAAGGGTCCCAGGCTCCCAAGCCACGTGCGGGACGGAGCACAGGTGTAGCAGCACTGAGGGCTGCCTGGCGAGGACGGCACCGCCTCCAAGTGCAGCTGCACTCGGGGCAGCAGAGCAGCAAGAGCCAGGCCCGGGGAGGGCGGGGGGCGCAGTTCAGGGGCCCAGCTTCCCTGTCCACTCCCCCCACGCCTGGCCCCTCCCTCACCCCAGTAGGGGCCTAAGCCATCAGCCCAGGTGAGGTCACAGTGAGGGCTGTTGGGGAGGAAGGGGGGCAGCTTGACTGGGGAGCTGGGGGGACCCCGTGCTCAGAGCCTGAAAGGCAGTGGCCCCCTCACCCCCTCATCCCTCACCTGGGGCAGCGTAGGTGTGCATGACATTGTGCTCCACCAGCACCTGGGCCACCGAGGGGTCTGGAACCGGGAAGGACTCGTTGTACGGAGGCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGC
Task1_train_22173
Here’s a variant in PKD1 (polycystin 1, transient receptor potential channel interacting) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Polycystic kidney disease, adult type
GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGAC
GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAGCCTGGTGCCCACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCATCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGAC
Task1_train_22174
The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Polycystic liver disease 1
ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCAGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
Task1_train_22175
This gene mutation involves PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Polycystic kidney disease
ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCGGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGAGCAGAAGGCAGAGGTGAAGGTGGAGCCCGCCCCCGCCCTGCCCCGCCCCATCCCCTCCCCTCCCCACCCCCGCCCACCTACTGAGAGCTTGAAGACCGCCGCGCTCTGATAAATGACATTGAAGACCACGTTCTGGAAGGTCAGGGACTGCTTGTCGTTGATGGTCCACCGGAAGACCATGTCCGAGCCGGCCTCCACCACGGGGCTGTACCTCTGCGGGGGGAATGGTGTCAGCCTGGGCTCTGTGGAGGACTCTGCCCTTAGCCTGTCGCCTCCTGGACACACCTCCCGTCGGGCTGGAGAGTCCCACGCGGGGCACAGAGGAGAGGAGGTGCCCGGGGCTCTGCATGCCATGGGAGCCAAGCCCGGGCTGGGACACTCACTGTCCGGCTCTCCAGCCAGCCATGTAGTACTACTAATGCCTCAACCTCTCTGTGCCTCAGTTTCCCCATCTGTAAAGCAAACCTAGTACCAGCTACAAAGAGTCCACCTCTCTCTGAGTCTTCTCAGACCCTCCCGGCGCTCTTGCCCCAGCTCCTCACCCAGAGAGCTCGGAGCAGTGAGGGGAGGCACCTACACTGGCTTACAGAACCCAGGACAGGCTGCACAGGTCACGCCATTTCTGATGGCCCCTCCCAAGGCCCCTGGTGAAGAGGCAGGTACCCGCAAGATGGAGACAGCCCTGTCCCCCATGTACCCAGCATGGTGGCACCGCGGGCAGCCCGCAGTTTCCCATCAGGGGTTCAGACTCCACCTCAAAAGCCACTCGCTTTAGCCAGGCGAGAACACAGCAGAGGGCGTGAGAGACTCACGGGGGCTCGTGTGAGGTCAGGGAGCAGAGTTTTAAATTCATTTTGTGAAATGAGACAGTGGAATGAGTTAGCGGAGCCACTGTCAGAGCCGTGACTTTCCAGGAATTTAAAGCCCACCAGGTAGCCCGAGGAGCCAGCCAGCAGGACCTGCCCGGGGCCGACGTCCCCAGTAACTGGGCTGCTGCCCTCACTGGGAAGCCAGGCCTCACGCCCTGTGTGAGCACCCTGTCTGCAGGCACCTGCCTGGGGGCTGGTGGTGGAGCCTCGGCCATACTCACCACTAGGACTCCCTGCAGTACACGGGCCTCGGGGCTGGGCGTGGCGCGGAGGCCACAGATGGGCTCCTCCGCCGTCACCCGCAGGCTGAGGTTGGCCCGGCTGGCGCTGTTTTCCACCACCACGTCCACCACGTGCTCCCCCTCACTGAGCCACGGCAGTGCTACCACTGAGAACAGGGTATCGTTGGTCTCCCAGGGGCAGCCGGGCACGAAGGTGGCCACCAGGGCAGGGCAGACATTCTCAAAGCGGGCGCTGACACTGCCCCCAGGCCAGCGAGCCGTGGCCGTGGCGTTGGCACCAGAGTCCACCTGGAGCACCAAGGCTGAGCCGTTGGTGGGCACGTAGAGGCGGCCGTCGCGGGGGGCAGGGTAGATGACCCGCAGCCCAGCCACTGGGGAGACCACGTCAAAGCTGCAGGAGAGGTTGTGCCTGGACACGCCATTGCCCACCTCTGCCCGGACCTCATAGCGCCCAGGCAGCCGCAGTCCAGGGTTGGGCCTCAAGCCCAGCAGCACGGTGAGCTGTTCCGTGGCTGCAAGCAGCCGCAGGGCACAGGCAGGGCAGGCCCAAGTGCCCTCCAGCTGGGCTGGCAAGTGGGGCAGCCATGACGAGGCGTTGGCGGAGAGGTACGGGGCCCAGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACG
Task1_train_22176
This mutation occurs in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; PKD1-related disorder
GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCC
GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTGGCAGACAGGAAGGAGCAGCTGTGCTGGGAGAGAGGAAGAGGAGGCACAGCTCGTGCCAAGGGCCCAGGCGAGAGCTTCTCCCACTGGGAGAGGGCCGAGGGCACTGCAGAGGTCGGAGGTCAGAGGTGGCAAGGACGTGGGAGGGGCCTGCAGGCTGGGTGTGTCTGGTGCACAGACCCAGACCCTGGGCAGCAGACAGGAAGGTGGCCTGAGGAGATGCAGGGAACAGACCCAGGTCAGGGCCACACACCGAGTACTGCGCGGGGGGCCCCGCGGGAACGGAGAAGAGGAACTCTCTCCATAGCGCATAGGGGGCCCCGGGTAGCCCTGGCCCTGACGTGCAGCCATTGGCGCAGGCCTGGGGGTGGCAGGAGGCGTCCAGCGGCAAGCAGATGTTGGCTCCAGGGCACCAGCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGCAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCC
Task1_train_22177
A variant has been detected on Chromosome 16 in PKD1 (polycystin 1, transient receptor potential channel interacting). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Polycystic kidney disease, adult type
GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCCAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCCCCCCACTGGCAACCAGGCCCTGGAGCCACCCTGACAGCACCGCCTCCCCTGCCCCAACCAAGCCGGCACTGGGGGGCTCCAAGCAGGCAGTGAACTGCCCCCAGGATCTGGTCTCAAGCCTGGAAGGGGACACGGACCAACTGGGAGGGCAGAAGGGATATTGGGGGCCTGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCACTTAAATTAAATAAATTAGCAAATATTCCTTCTTCTAACGTAGAAATCTTGTTGTTGCTTATATCCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAAGAGGCGGTGCCGCCAGCCCACCCGGAGTGAGCCCCGCATGCTGGCACGACTGGGGGACACTCACAGCTCTGCCAGCGCCGAGAGGTTCGCCAGGAGCCCAACGTCCAGCGCCCGGAGCAGGTTGTGGGAGACGTCTCTGAGGAGTGAGTGGCCGTGGGTCAGGGCCAGAGCCCCTAGTAGGCCAGAGGCCATCCCTGGGCCCATCCCACACATTGCCAGCATCCCCAAGCTATGGCCTCCCACCCTTGAGCTCCCCACTCCCAGAGGTCAGGAGGGGACTTTCTGATGGAAGACCCAAATGAACACTCATCTGGGGAAACCAAGCCAGGAGAGGCCTGGGGGCCTCAGCCCTCTGCACCCATCTCAGCCCTATGCCGAGTGCCACATGGACCT
GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTGGAACCCCTGCTCTGTCCACCTAAGACTGGGAACCACTCTGGTGGCCACAGGACCAGCAGACGTGAAAGCTCAGAGAGGCCACCCCGAGTCCTGCGGCGCCCACCACCCACCACCCACCACCCAGAGTCCCACCTGCTGTGCTGAGGAGCCGGTACACCTGCAGCCGCAGCTGGGCGGGCCGCCGGAGCTCCTGGGTCCCAAATTCGGCCGTGGTGAGGAAGGCTTCACGGCTCAGACGCAGGCCCGGGAATACCATGACCTGGTGGGCAGGGGGCCGCCTCAGCTCCACAGACCCCATCCCAGCCTGAAGCCCAGACTCCCCCTACCCGAACTTCCCAGGAAGAGGGGAGGGAAGGAGAGCGAGCCATCAGACCCCCACAGGCCTGGCTCCTGTCGCTCGAGAGGAAGACTCCGGTGGAAACTGTCCATGGGGGGCAGGACCCCTGACCTGCCTTTCAGGAATAACTCACACACGCTCAGAGAAAAGGCCTGGAGGTAATGTGAGTAAACGCTTTCCTCTCTGCACTCTGGATTTTCCCAACCATCTTCACTGGGCACAAGCAACATTAAGGCCCCCAAGTTTTTTGGCGAGACCCACAGTGGGCAGGGCAGGCAAGGCCTCCAGGGGCAGGCAGGAGGGCAGGTTGTAGAACGTGGGGGGCCGACTACCTCCACGGGCTCGTGCGGGGCTGAGAGGCCGTCCTGCTGTGCCAGAGGCGTCAGGGGTCCCTGCAGGTCCCCACTGGGCGCTCCCACGAGGAGGTTCTCGGCATCCTGCACTGGGCCTGGGGTGGCGAGTGCACAGTGAGGCGCCGGGCCAGGGCCCAGGACACCAGGACGAACAGACTGGGGACCGAGCCGCCCGAAAACCCCCCCACCAGCCCCTCCTCCTCAGCCCAGGCTCCACCGCGGGCGCTCGGCAGGCCCCTAACCACAGCCAGCGTCTCAGGCCCCTGCCTGGCCCCCCGCACACCTCCGGGCTGCAGCTCGCAGACGTAGCTGTGCGGCGCTGAGCACAGGTCGGTGTTACACCACCCGGTGGGCCCGAGCCGGACGCAGTGCTCGGCTGTGGCTGGGTGTGGCTCCCCGGGCAGCCAGTTCTGGCAGCTCTCCAGGCTGAAGGCCTCGCCCTGCGGCGCTGGGCCCACCTCCACCCCCTGCACAGTCGAGAAGCCGATCCACACGTCTAGGCTCCTGGGGGCGGGTGTGGGATGGCAGGGGGCTCAGGGCACTCCTCCATCCTCCCACCCTCACAGCAGCCCGCTGGGAGCCCCATCACTGTCCCCCTTTCCAGATGGGGAAACTGAGGCTCAGAGCCCGGAGACCAGGGCCCACCAGCCCAGGCTCACAGCAGCACCCACCCACGGGGCCTGTGGGTACCGGCAGGGATCCCCGTGCAGGCCACCTCCCGTATGGCGTGCCCAGGAGTGTCCGGAGGCTGCCCCCAGCTCATGTCCACCTCTGCATCTGCAGAGCTGACAGGAACGGCCCCACCGGCCGGCGCCACCTGCTCACCAGGGCCGGCCCAGCTCCCACCTCCTTCCTCCTGAGACTCCCCAGCCGCAGGCTCTGCCCCAGTGCTTCAGAGATCTCCCAACCTATGGCCCCTCGGGGGGTGGGGGCAGGCACCTGGTGACCCGGGAGACCAGGAAGCGCTGCACGGCGGGACTGTCCACCATTGCCAGGGCGGCCCCGGCCCAGGCCTGACACTGCTCCTGCGCCTGCAGCAAGGCCGCCTTCTCCACCACCAGGCGGTAGCAGTGCCCGTTGCCAGGGAAGATCTCCGTGTCCGAGGGGCAGAGCGGGTGCACCGCTGGAGACCGGTGGGAACGAGGGTGTCAACGGTCAGTGTGGGCCCAAGACGGGGGTACCAGGCTCTGCCCCATCTGGATGGCCCTGGGGAGGAAGGGGAGTGGGCAGCAGACACTCACCTCGGGCCGGCTCCTCGCCCAGGGCCACGATGCTGTAGGCGGCCTCCAGGCCTGAACCACCGCGGTTCTGGATGCTGAGGTCGAGGCTCTCGTCACTCTGCACCGAGGACGGGCACACGAGCTCCAGGGCGGCAGGTGCCGCTTCCACCTGCACGTCTGTCCCCAGCAGGGCTGAGCCGGCCCCCAGGGCCAGCACGGCCGTCACGTGATAGCGCCCAGGCAGCACATAGCGATGCGAGGCAGCCGGCCCAGCGGCATCCACCTCGGCGGAGCCGTCTCCGAAGTCCCAGCGTGTGGCAGTGACAGGGAGCGGGGCAGCGATGTGGAAGGCTGCTAGCTGGCCAGAGGCCAGAGGTCCGTGGGGCCCCACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCCTACAGGTGGGGGCAGGAGGTGGCGGGGGGCCGGAGCAGAGGGACAGGCAGGCAAAGGAGGCACTGGAGGGCTGGGCCGCCCCACACAGGCACCAGCCCTGCTCCGAGAGGGCTGCGAGGCCCTGGCCGGTGGAGAAGCAGAAGGCGCTGCAGGCCTCTGGCTGAAGCAGGCCTTCGTGGGCAGCTGAAAAGGACACTGCTGCCACGGTGCCTGAGCTGTTGTCAGGGAGGCAGGCGACATACTCCTCACCTAGAAGAGGCAGCCACTGGACCCCGGGTTCTGCTCCTCCTGGCTCCACCCCACGCCCCCACATCCGCCCGCCGCACTCACAGGCTCCCATGCTGTTCCCTTGGCCCGGAGGCCCCCCCCAGAGAGGCCTTCCTGAGCCCTGCCCAGTGTCTGCAGGGCCCAGGTCCCACCTGGCTGGGAAGGACAGAGCTGGCCCCACCCACCGGCACTCACCACAGCCACTGTCCAGCAAGGGGATGCCAAGCAGAGGCTGGCCAGCCAGGGAGCCAGGCCCAGCACACGTGGCTGCCTCGGGCTGCACCACCCGCACCTGCTGCTCCTCCGCCCATCGCGGCAGCCACGCCAGGCCACAGTCACACTCAAACGGGTTCCCACTCAGGTTTCTGCAGGGCAGGGGCAGGTGTTGGGGACCAGGTCTGGTGGGAAGGGTCTATGCCAGCCCCCCACTGGCAACCAGGCCCTGGAGCCACCCTGACAGCACCGCCTCCCCTGCCCCAACCAAGCCGGCACTGGGGGGCTCCAAGCAGGCAGTGAACTGCCCCCAGGATCTGGTCTCAAGCCTGGAAGGGGACACGGACCAACTGGGAGGGCAGAAGGGATATTGGGGGCCTGGGGTCCAGCCAGGACCCCACCCAAAGAACCACAACTTACATTTCACTTAAATTAAATAAATTAGCAAATATTCCTTCTTCTAACGTAGAAATCTTGTTGTTGCTTATATCCCTGGAAGAGACGGGGGATTCGGCAAAGCTGATGGAAGCCCCCACAGCTGAGCAGCAAGAGGCGGTGCCGCCAGCCCACCCGGAGTGAGCCCCGCATGCTGGCACGACTGGGGGACACTCACAGCTCTGCCAGCGCCGAGAGGTTCGCCAGGAGCCCAACGTCCAGCGCCCGGAGCAGGTTGTGGGAGACGTCTCTGAGGAGTGAGTGGCCGTGGGTCAGGGCCAGAGCCCCTAGTAGGCCAGAGGCCATCCCTGGGCCCATCCCACACATTGCCAGCATCCCCAAGCTATGGCCTCCCACCCTTGAGCTCCCCACTCCCAGAGGTCAGGAGGGGACTTTCTGATGGAAGACCCAAATGAACACTCATCTGGGGAAACCAAGCCAGGAGAGGCCTGGGGGCCTCAGCCCTCTGCACCCATCTCAGCCCTATGCCGAGTGCCACATGGACCT
Task1_train_22178
The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Polycystic kidney disease, adult type
GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCT
GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGGGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCT
Task1_train_22179
Consider this mutation in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGCATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCTAAACTATTTGAAAAACCATGGGGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGCCACGCGCCTGTAATCCCA
AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTCTCCCGGACAGCTCCTGAGGGGCTGCTCTCATGGACACCATCAGGTGCTGGGAAGCAGGAACCACCAGGCCCTGGACAGAGTCCCCAGTGACCGGCCTGGCAGACAGAGGAGCCCTCAGCTACAGCATCACAAACAACGGGTGGGGTAGGTCTGATGCAATTCTGTGGGTGCTGTTGCCAGGCAGGAGGAGGCCATCTCCACAGAGACAGCCGCGAGACACACGCGTCCGCAGTCAGGGAGCGCAGGAGCAATGTGGCCCCGAGGGGCACGGGCTCCATTGGTCCAGGAGAACCCATTCTTCTCCCACCCTCGAGACCACCCAGCAAAGCCCCAAGGACACACGGCTCCCCTAAGGAAGGGTGGCCACAGGCGGGAGTGACCCAGAAACGTTACAAAACCAAATGCCAGAACCCACCCAATGTTTAGCAAGCCTGGGGATGTGCCACGTCCCCCAGGGATCCAGCACGCACCCAAGGAGACACTGTCCCGGCGAGGAGCCTGGAGCCTGGGAAATACAAGGCATCAGACTGGTCCCAAGACTCTCCCCAGCGCTGGGGACAACTGTCTGCTTATCTTAGTCCCCTCCGCCCTTTTCAATCCAACCCTGGGTCCTGGGCACCTCATAGTTCCAAACCCCTGCTATGCACATCCCGGCTGTGATGCCTGGGACAGGTCGTGTCACCTCTCCAAACCTGTTTCCTCATCTGTGAAATGCAAATCTCCACGGTCCCTATGCCTCGGATGGTCAGAGTCAGGATTCCGCATGACGACCCCCAACAGGAGCCTGGCACAGACCTGGCTCTGGGCAGCGTCTCCATAAAGGCCACCTGTTGTTTTTATCTCCCGAAAGCGAACATGACAAGGCTTTAACCCCCCACGGCAATCCCCCCTCACCCCTGTTCTCAGGATAGCCTTGGAACCCAATAGCAGAGCGCCTGAGGCCCTTCATGACCCCAGCCCACCCGCGAGCCCACCTCCCACCCTGCCCCTACCCCTCACACCTCCCGTGGCCAGCCTCCAGCCTCACGGTCTTTGCTCACACCGTTCACCCCCCTTCTTCTGGACCCACCTCATCGCCCCTTCCTAAGCATCAGCCCAATTCTTGCACATCCATCAAATCCTTTTCCAGACACCTCCTGGAACTCTTCCCTGCCGCCCCCTACAGCCATCCCCACCTCTCCGGGTACCCCGCAGCCCCAGGCCGCATCCCAATTCCTCTCCAATTAGCGACTGTTTGTCCTCCCAGCTGAGCGCGGCCTCCGCGCCCCGCCCCCGCTGGCGTCTGCAGAGCCCCCGGGTGGGACGTCTGTCTCCAGACCCGGGGTTTTTCGGCTCCCCGGGGCCGTGCCAACCGCGGCTCCAGGCGTTCCTTATTTAGCAGGGCCGCCGTGCCGCGCCGGAGCCTCGCCCTGGGAGCGTCCTGGCCCGCGTCCTGCTTCCCGTCCCGGGCCAGGGAACGCGCCCACGCCCGCCCGTCCCGCGGCCTCTCCCGGGTGCCGCTGGGCCCGCTACTCACAGCGCTGTGGCGTCCGCGGGGATGCGCAGCGCGGGACCGAGCGTCCGCAGCCCGCGGCCCGAGCAGTTGACGCGGCAGGCGGCGCCGGGCGCTGGGCCGCAGAGGCAGGGGGGCTCGCAGGGCCCGCAGCCGCGCCCGGGGCCCCCCGCCAGCGCCCCGAGCCACAGGCCCAGGCCCAGGGCCAGCGCCAGGCGGGCGGGCGCGGCGGGCGGTATCGTTAGGGCAGCGCGCGCATGGCCCCGCCGTCCCCAGGCCCGCCCGCGCGCGGAGGCCGCAGCTCAGGCGGGGCCCGCGGACGGCATGGCGGGCGCGGGGCTGGATGGGGCTGCGGCCGCGACCTGCTGCTGAGCGACGCCCGCTCGGGGCTCGGGGCCAGGCCGCTCCGGGAGCTCGGCCGCCCGCTCGGACGCTGGCGCTGCAGTGCGGGCCCCGCCGCGGCTCCTCCTCCTCCTCCCCGCGCGGCGCGGGGCGGACGGGGCGAGGGGGGGCGGGGCGGGTGCAGGCTCCGCCCCCTTCGCCACAGCGCGACCGGGCCAGCGATGAGGGACTGGCATCCGGAGGCTTCACCCTCCGCTCCACAGGGTCGGCAGCAGGGCGGGGCCTCCGGAAGCTCCGCCCCACGCGTTCCCGGGGCGCATGCGACGTGGGGCGGAGCGTCTGGAAGCTCCGCCCGTCGCACTGCAGAGTCGGCCGAGGCGCACGAGCTATTTTTCACGCTCCGCCCCGCTGCAGGCTAAAGTGCGTGGGCGGGAAGCGGTGGGCAGGGTGCCATCTGGCTCCGCCCTTCTCCTGTGGTGTGGGCCAGGCGGCGGGTTCCTCCTCCTGCAGCAGCCACAGGCTCCACCCTGATCCTTCTTCCGCGGTGTGGATCCTTCTCCCGCAATCTCCGTGCGCGGCCCGAGTCAGTACCCGCAGCCTCCCGACGCACCCGCTGGCTCCAAGCCTCCCTACCCCAGGTTTCCTGGCTGAGAGAGAGACAGAGGGAGAGAGGGGGAAGAGAGAGAACAGGCAATGGGAGGTTGATGGTGAGAGCTTATTGAAAGACAAGAGGGAGGAAACCCACATCCTTCATTCCCCATCCATTCATTTATTGCCTTATTTATTCCATTGAATCTTCACAGCTCTAGAAAAAGTGTGCTACAATTATTCCCTTTATTAAATGAGGTCACTGAGGCACAGACAGTTTAAGAAATTTGCCAGCAGGGCACAGTGGCTCACTCCGGTAATCCCAGAACTTTGAGAGGGGGAGGAAGGTGGATCCCTTGAGTCCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAGACCCCGTTTCTACAAAAATTAGCCAAAATTAGCCAAACTGGCTCACGCTTGTAGTCCCAGGTACTCGAGAGGCTGAGGCCGGAGGAGCGTGTGAGCCCAGTAGGCAGTGGCTGCGCTGAGCCGTGATTGTGCCACTGCACTCCCGCCTGGGCAAAAGAGTAAGATCCTGTCTCGAAAAAAAAAAAAATGGAAAAAAGAAAAAAAGAACTGGCTGGGAGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGATCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGCAGGCACCTATAATCCCAGCTACTAGGGAGCCTGAGGCAATAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAAATTTACCAGGTCACACAGCAGGTGGATGGTAAGGCTGCGATTGTATTCCAAACCCAGCTTTTAATTGCAGTCAAATGACAGACTTAAGATTCAAGGACTCCAGTGGAGGGAAGAAACAGCCACAAGAAACTGCTGCCAAATGAGCAAAACAGATTAACCAAGTCTCAATGATTGTTTGAAGGCGGTTGTGGAATAAAATGCAATTGTTTAGAAAGGATTTCTTAAATAGAAAAGACATATGTTTAAAGAAGCAAATTAGTTACCTGGAAATGAAATTCTAAACTATTTGAAAAACCATGGGGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGCCACGCGCCTGTAATCCCA
Task1_train_22180
A mutation in TRAF7 (TNF receptor associated factor 7), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCC
GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCGAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCC
Task1_train_22181
This variant affects gene TRAF7 (TNF receptor associated factor 7) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTG
GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGGGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTG
Task1_train_22182
This alteration in TRAF7 (TNF receptor associated factor 7) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCC
CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTGTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCC
Task1_train_22183
The gene TRAF7 (TNF receptor associated factor 7) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTG
TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGAGTGGGGGGCGGGCGGGGGTGGGCCGGGGTGGGCGCAGGCCCTCCACAGGCTCCGCTGAGAGCTGCCCGCTTGCTGGTCCCGGGGAGGTAGGCCGGAGCTGGGGCCACACCGGGGTCTGTAATCCTCTCTGAGGCCCAAGGCCCTGGAAACCCAGAGGGGGAGCCGAGGGCGTCCAGGAAGGCGGGCGTGGACGCTCCCGCAGCCGGCCCAGCATGGGCGGATTTGAGCAAATGCTGGGGTTGAGAGCTTTGGAGAGGGAGGTGGGGGTGGGAGGAGAGGCAGGAGCCCAGTTCTTCAGGGCAGGGAGGTGGGCAGGGAGGCTGCCAAGCAGCGTGGGTTTTATCCTCAGGAAGGGAGGACCCCTTGAAGAGCTCTGCGGGGGTGACGTGATGGGATCTCACTTGTGAAGCAGACTGGGGGTAGCTGGATGGGGAGGAGGGGCAGGACGGCAGGTGTGGGTGGGGGCAGCTGGACCTGGGGTGCAGCGGCCACAGGGCTGGAGCATTTGAGGGGGATTCTTGGGGATGGGGAGGCACCGGCAGGGACCCGCCAGGCAGGCAGCTGTCCTGTCCCCGCAGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAGACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGGTGAGGGTGGGCACCGGGGCAGGCAGGGGCCTGGCCACTGCTCCGGGCACCAGTGACACCCCCTCTCCTCCTGCTACTCAGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGTGAGCGGGCGGGGCTGGAGGGGCTGGGTTGTGAGACCCGGGGAGGCCGGCGGCCCCGGCAGGGAGGCCTCCCCTGGCCTTGCCTACACTAGTCAAGATCAGGGGTCTTGTGTGTGGCAGGGGCTGCTGTCACCCCTGCCCACCCCTGGCCCAGGGCAGCAGGGGCAGAGAGGCTGCACTGGCCCCACAGCAGCCCTGCCCACCTGCCCTCTGCCCTGCCCTTGGCCCTGCAGGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACGAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTG
Task1_train_22184
An alteration has been detected in TRAF7 (TNF receptor associated factor 7) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGA
AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTTTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGA
Task1_train_22185
Given a variant located on Chromosome 16 and affecting TRAF7 (TNF receptor associated factor 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cardiac, facial, and digital anomalies with developmental delay
AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGAAGGACCGCAGGCAGACAGCCTGGGCCTCTAACAGCTTTTGTCCGGAGCTAGACTTCGTGTCCTTTCAGTTGGTAAATGGTTTTCTATAGAATCAATAATATTTCTTTCTTTAAATATATATTTGTTAAAGTTATACCTTTTTGTTTCTCTGGGGAAATCCGCCTCAGCTCATTCCCAATAAATTAATACTCTTGATAGCTTATATTCTGGGGGTGCGGTGGGG
AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAGGAGACGTGGCGCTGCCACCCCGTGGGCCGTGAGCCATGAGCTCGAGCCTGTGTAGCTATGTGTGTGCCCCACCTATAGGGCACCCTCCACCCGGAGCAGCACTGTTTCCTGGGTAGCAGTGTGTGGGCCCTTGTGTGGCCTACACCATCTCCAAAGTTGTGTGTTCCCAATACCTGGCGCAGCCAGCCTCCCAGCAGAACCTTGTCCTGGCCCAGGTGCACCTTGCGCAACCAGAAGATAGGGGGGACCTTAGGGGGTGAAGGCAGGAGCTCAGCTCTCCCCTGCCTGCAGCCAAAGCCCAGGGCATAGAGACTACGGAGCAACTACCTTGGCCACTTTCTTGCCTCCAGGTGGCCCGCCTGCCTCCTGTCTCCTATCGTGAGGCTTTGTGGGAGCGAGCAAGTAAGCGTGTGCGTGAGAGATGCTCGCTTTCAGGAGGCGGCAGCTTGACTGCCAGCAGCCGGCCCTGGGACTGACTCAGGGCTGACGGGTGGGTAATTACCTCCCAGCTCGCTGTCAAATGCTTTCCAGGCAGGCATCAGGGGCTGGCCCGCCCCTTCCAAGGTTCCCATGTGGAGACTGGAAAATAGGCTGACGCTTAAGGACACAGCAGTGGCCTTGGCCCTGGGCCATGCTGCTGGTTCCTGATGGCTGGCATGGACCTCGGGCCCTGCCAGGGCGGTGTCAGCATGGACACAGCTTCTCCCACCTTGACACATTGTCTCTGCTTCCCCAGGTGCAAACTCTACAGCGGCTCTGCAGACTGCACCATCATTGTGAGTGGGGCCTACAGGCGGGTGGGCAGGAGGCGGCCCAGGCCCGCCCCAGTCTGTAGGTGCCCCAGGGACGTGTTTCTCCCCGTCTGGGCTCCAGACTCCAGGTGGCAGGGCTTGGTGCCCTGAGGCTGCCGGTCCTTCCCCAATCAGGTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAACCCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATCAAGGTACGGGTGGAGGCTGTGCCTACGTGTGTGTCACTGAGGCGTCCCTTGCCCGCCCAGCCCACAGTTGCAGCAATCCCTGCAGGTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAACCACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACAATCAAGGTGCGCTTGGGCACACCTGGTGGCCACAGGGCCTTGCCTCCTACCAGCACTTCCCAGGCCAGCACCTGGGGCTCCATCTGCCCTGTTCCTACCTTCGCACATCCCCTGGCTGGGTGGGTGGGCTGCCCAGCAGTGCTGAAGCCCTGGGGGTGCGGGGGCCCTGGGGGTGAAGCACCTGGCCTGGGACCAACTGGCCCACGATTACTCATAGATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGCAGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTCATCCACGTAAGGCCTGGGCATCTGGGTGCAAGGCCAGACTGTGGCCCCGTCTCCCCCGCCTTGCTCAGTGTCTTTGACCTGCCTGTGCCCACCCCTCCCAGGTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGCGCCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCCTACGACCGGTCCCTCAGGGTGCGTGCTGGCCCAGCGGTGGCAGGAGGCTCAGAGGGCTGGCAGCTGAGCTCCGGCGGGCCCTCACGTCCCATGTGCCCCCAGGTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTGCGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCTGTGGATAGCACTGTGAAGGTCAGTGCCCGTGGCTCAGGCCATTCAAAGGGGCTGCACAGGATGGAGCGGGGGTGGGGACGAGGAGCTGGCAGCCCCAGCACAAAGTGGTGGAGGGCAGGTACGTGTGGCAGGTGTGGCTGGGGCAGGGCAGCCGGCCGCAGGACATCCTGGTGAAGCAGCCCTTTCTCTGCAGGTTTGGACTTGCTAACAGGATCCAGGCCAGGCTGTGGTTTCCCCTGAACCAGCCCTGGACCTTTCTGAGCCAGGCTGGCCACATGGGGTGGTCTCGGGGTTTCTGCCTGCCCCGTGGGCATAGGTGGACAGGCTCTGGCAGCCGGGCAGTGCCCTCCCCGTCCCATGCTCGGCGAGCCTCCCTCTACTCGGCACTGTCCTTGCTGCCCAGCCCCTCTCTGGGTGCCAGGTACGACGCTTGCCCCGGCCCACCCTCCATCCCCACCCTCCATCCCCACCCTAGATGGAGCGAGGGCCTTTTTACTCACCTTTTCTACCGTTTTTAGACTGTATGTAGATTTGGTTACCTCCTGGTTGAAATAAATGCTCCACAGACTGTGGCTGTGAGTGGGGACAGCTCCTCGGGACAAGGGGGCTGTGTGTGGCCTTGAGGTTGGTGTGCACAGGCACTGGCTGCTGTGAGTGGGGGGGCATGGGGCAGTTTCCTTTGGTGGACCCCAGGACTTCGGCCCACTCCGGGGCCTCCCCTCCCTGCTAGGAGGCAACTCGTCACACCCAAGCTGCTGGCCTCCAGTCCCATCTCCCCCAACACATGTGCCCCCAAAAAGTGAGCCAGGCACCTCTGTTTCCTGCTGTTTATTGACAGCCGACGGCAGCGCCTTGCCCAGACCTCCCCTGCCCACCTGCTGGAGCCCAGCCTGTGCCGCCCTCTGAGGAGAGGCCTGGGGGGACAGCTGGGCACGTCCACTCGCAGGGAAACACGGGGTGAGACAGCAGGAAGGGGCCCTGCACGCCGGGACGCCACCTCCGCCAGCCGCCTCCACCCGCCCCACACCACAATCGCTGGTTTTCGGCATTTTTTAAATTTTTTTTTTAAGAAACGTCAAAGTTGTGCCCAACACTGTGGATCAGCAAACACGATAGAGGAGACCAGTCAGTACTTCTTGGAGGGGGCAGGAGGAGAGAGGAAAAGGGAGGGCGAGAATGACCACACAACACAGCCTTGGACCATGAGCAGAAGCGTCCGTGGGAACTCCACTGGGGTGGATGGGCTGCCTGCACAGCCCCTGGAGAGGGGGCCAGGCACACCCTCAGAGGAGCTGCAAGCCCGTGGCCTGGCCTGCTACATGCCCTGCTTCCACGTGGCTGCCACGCTGACACACCCACATTCACCAAACCCACCCGCGCCCTGGGACGCAGCCACGCCAGGAGGAGGACACGGCCGCCGAGAGCAAGGCACAACCTCGAGTTCTTGGGGCGCAGAGAACTTAGGAGAGAAGCACGGAGGAGCCCCCGGCAGAGCACCCGCCCCCGGGCCCCAGCCTTCCACCTGTGCTAGCAGCCTGGGGCCTCCACTCTGGCCGGAGGAAGGACCGCAGGCAGACAGCCTGGGCCTCTAACAGCTTTTGTCCGGAGCTAGACTTCGTGTCCTTTCAGTTGGTAAATGGTTTTCTATAGAATCAATAATATTTCTTTCTTTAAATATATATTTGTTAAAGTTATACCTTTTTGTTTCTCTGGGGAAATCCGCCTCAGCTCATTCCCAATAAATTAATACTCTTGATAGCTTATATTCTGGGGGTGCGGTGGGG
Task1_train_22186
A mutation on Chromosome 16 affecting ABCA3 (ATP binding cassette subfamily A member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGATTAGTGTCGTGTGTAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAA
GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGATTAGTGTCGTGTGTAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACGGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAA
Task1_train_22187
A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAAGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCT
TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGATGGGCCCTGCTTGCCCGTCCTGTCCCTGCCTGATGGCGAGACAGCCGCCACCCCTCATCGCCCCTCCTCTGCGGTGGGCGGCTGCAGGTGGGCGAAGCTCAGGAAGACCTGTTCCAGCGAGATCTGGCTCACGGAGTAGTCGTCCACGCCGTACTTTTCCTTGGCTTTCTCCAGAATACCGAAAACCTTTGGGGAGCAGAAAAGTCACTGGTAGGAGAGAACAGGGCCCAGGCTCCTCTGCGGGACCTGGGAGTCCTCTGGCAATAGGGGCTGATGAGGCCCCCACAATCCTACCCCTGCCCAGCGCCACCCCAGAGCCCCAGAGAGGTCAGCCCTGCGACGGCACCGTGCTCCCAGGTAGAGGACGCTGGCTAAGCAGGAGCCAGCGGGGATGGGGCCCAGCCTCCTCCCTGTGCTGTTCCCAGCTCAGATTACAACCTTGAGCCAGTGATGTTCCCTTTCTGAGCCAGTTCTTTTTTTCCCCCATATTTTTTTAGAGAGAGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCACTGCAGTCTCGAACTCCCAGGCTCAAGCGATCCTCCCACCTTAGCCTCCCGAGTGGCTGGGACTACAGGTATGCATGATACCTGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTCTATGTTGCCCAGGCTGGTCTAGAACTCCCAGGCTTAAGCAATCCTCCCTCCTCGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCACCATCCCTGACCCCTTTCCTGTTTTACACTGAATTCCTTTTACCACTGATAATTTTGGATATAAAACCCCCAAACCAGCACGTATCAGGCTGAGTGTTAGGGGAGAAATGGAAAGTGACTCCTCTGTGGAAAGAGCCTGCAGTCACCACAGAGGGAGAGACCCCTGGAGGGACCTCCCCCTGCCCCATGAGTGCCCAGTGGGGCCCCAGGGACTGCCTCACCTTCGCCCAGCTGAGGTCACGGCCCGGCAGGTGGTAATGGACCATGCCTTGGTGCTCATCTTCCAGGACGCTGCCTGCACAAAGGAGAGACGGTGTTGCTGTGAGCGCCGGGCTGGAGGATCGGGGAGGGTGCCTGGGTGCTCAGCACTGGAGTCCTCGTCCCAGGGATTGGGGAGATGGGACTTGGCGGGGCGAGGCACAGACGCTCCGCACAGCAGATGGGAGAGGCCTAGGTAGGGGCCCAGGGCCCACCCAGTGGGGGCTGCCGGGGCCGGCACACACCTGGAAAGGTCAGGTCCACGAAGGCCTTGAACTCCTCCAGCGCCTCCTGTTGCCCTTCACTCTGCACCTTGGCCCGCAGGGAGTAGCCGCTGCCGAACTTGCTCTTGAGGTGCTGGGGGCTGCCCAGGCACTTGAACTGCCCCTGCACCATGATGGCCAGCCGGGTGCACAGGGCCTCACACTCCTCCATGCTGTGGAGAGGGCGGGACCTCAGATAGGGCTTGGGGTGCCAAAGGCTTGTGCAGACAGGAAGGCATTGGCTCTCCGATCAGGCTGTTCCTGATACCCATGCTCAGTGTGGCTCACGGGCAGACTCTGCACCAGATGCTGATGGGTCTCCTGGCCACCTGGCTCCTCCATGGCCCACCCGGTGCTGAAACTTCCAGTAACCCACAGACCCAGGCTCTACCTGTGGGAGGTGATGATGATGGCCTTGCCAGACTCTCGGGCTCGTGCCACGGTGTCCCAAGGCAGGCGCCGGGCCACGGGGTCCATGCCAGTGGACGGCTCGTCCAGGAAGATGACAGCAGGCTCTCCGATCAGGGCGATGCCGGTGCTCAGCTTCCGCTTGTTACCACCACTAGAGGCAGGAGGGTGCCAGGTGGGGGAATAAGGCTGAGAGTTAGCATTGGCTCCCATGTCCCAGTGGAGGCCCGTGTCCCAGCAGCGGCCCACACCCAGCAATTGCAGAACAGCCCTAGTGAAGAGGAAGGAGCTGTGTGTGCACCTGGAAAGCCCACCGCATAGGGCTGGAGGCCCCAGAGAAGGCTGTTCCCAGGGGCCCGGTGCACGCACCTACATGGGAAGACATCTGCCTGCACCTAAAGGGGACCTGCCGACCCTGACATCTCTCACTGCTGGCTTTGTCCCTAGGTGGCAGGCACTGTCAGGGCAGTCCCTTTCCTACGTGGAGCTACCTGGGTCACACCACCACATCCCAGCTCCATCCTGGAGCCACAAGCAGGAGCTCTGGCTGCTGACCTGAGCGGTCACTCCCAGCTCTATGCTATGGGGACCTTGATTCTGACTCCACTCTGGGAAGGGCCAGGGCTCGGGAGGTGCACCTGTACGTCCTGACCAGCTTGTTGGCATGTGGCTCCAGCAGCAGGCCCCGCAGAGTGTTCTCCACGCAGGCCCCGATGTGGCGCTCAGGGATGCCCCGGAGCCGAGCGTACATGACCAGCATCTCCCGGCCTGTCATGTGGTCCAGCAAGGCATCAAACTGCGGGCAGTAGCCGATCCGCTGCCGCACCTGGGGTCGGAGCATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCT
Task1_train_22188
Given a variant located on Chromosome 16 and affecting ABCA3 (ATP binding cassette subfamily A member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Hereditary pulmonary alveolar proteinosis
CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCATGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
Task1_train_22189
Located on Chromosome 16, this mutation impacts ABCA3 (ATP binding cassette subfamily A member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCACGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCATTCACACCTGGGACATCTGATGTGCTAGGACTCTTTCTTCTCCCTCTAAGAAGAAAGATTTGTGGGCACCACGTTTGGGGTGAGTACTGCTTGGTCAGATGGTGCAGCAGCTGTTCTCTGCACAAGTGACCACGTCCAGCTGAATTAAGACGTGCCTGCTGCCATCTGCTTAGCTACCTTCAGCAGCTGGTCGGGGGCAGGAGTGCCTGGGTTCTGTGGATTCCAGAGACTGGATTTCTTTTTCTTTACCTTCCTTCTTTGGGGTTCTCAAGCTTCCAGAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCTCCCTTACACTGGTAGAGCGCAGTGGCATGATCTCGGCTCACTACAACCTCTGCCTCCCAGGCTCAAGTGATTCTCATGCCTCAGGCTCCCGAGTAGCTAGGATTATAGGCACCTGCCACCATGCCCTGCTAATTTTTGTATTTTTCTTTGGTAGAGACAGCATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCTAGACCTCAAGTGATCTGCCTGCCTTGGCCTTCCAAAGCTGGGATTATAGGCGTGAGCCACGCTCCCAGCCCAGAATCTGTTTTTAATCAGTTTGGGGAAAGTCTTAGCCACTACCTTTTTGGCTACTACCCCCTGCCACTCTCTCTCTCTCTTCCTTCTGGAACTCAGATTACATGTACTGGGGACTTCTCACCCTCTCCTCCATTGCTAGATCACATACGGTTTTCTCTCCCCTGCATAGATTTTCAATTGCATAATTTATTTCTGTAGACACAGTGAGTTTATAATCTTTTATAATCTGGCCTGATGATGCAGATCTAACGCCTATGTGCTTGTCCCCCCATGGGGCCTGTGTCTATTGCTTCCAGCCATGGTACCATCTCCTCTGTTTGTTTGCTGTGCATTGCCTGTAAGCCCTGGAACCCTCTATGGGGGAGTCTGCAGCCTAGGATGAGGCTTTCCTCCCGAGAGGGCCTGCATGTGCTCTGGCCCAGGGCCTCTGCTGTCCAGGCACCCCTGGTGTGAGCTCAGGAGAGGACTCCGCGGCCACTTCTCAGCCCCAGGCCCTGCTTACCATTTCCCCTGCTCTGCTTGGCACACTTGAATTCCCATGCAGGCCCCGGGCAGAGGTGCAGGAGGGCTGCCTCTGGTCCTTCTGCGGGGGAGCTGGTGGGGCTCAGCTCAACATGGGAAAGCTGGGCGGGCCCAGGGCCTTCCATCCCTTCACTCAGCAAGGCCTCTAACCCCACACCTGAGCTGCCTGGACACAGAATGGCCTCTGCACAGAGGTGGCTGTCAGTGCTGAATGCGCCTCTCTGGGCTCACGGATGTTGGCACCCATCTCTCTCCCCTCCCATCACCTGCTAGTTCTGGCGAAGCTTAGCTTTAGCTCATTACCTTGTCTCGCTGTCCAGAGGCATGTGCTGGGCCCATTTCAAGCCACAGATGCAGCAGCTGTTTGGGGACAGCATCCCTCTGTCCCTGCCTCCAGGGTGCCCCCTCCAGCCATGCCTGTCTCACCCCTTCAGAGCCTCCCTGGCTGCACCCACCTTTCCGACATCAGAGCTGATTCTGTGACCCCCGACAAAGGCATCCCCAGAAGTGAGGCTCTCCTCCCCGGTCAGCATTTTGAAAGTCGTGGTCTTCCCGGCTCCATTGAAGCCCAGCAGGCCGAAGCACTCCCCTTTCTGCACCGCGAGGGAGAGCCTGTCCATGGCCAGGAGGGGCACCCGCTGCTCGTACACCTGCAGGCACCCAACAGAAAACACGGAATGCGGAGGCCTGGACGCAAAGCAGAGCAGTCTGAGCCTCAGCGCCGAAAGCTTCCAGGGATGGGGTCGGACCCTGGGGACAGCCAGGTAGTCAGCTGGCAGGAAGGACTCCACCCCAAATTGCAAGGGTACCTTGGAGAGCTCCTTGATAATCAGAGGTGTGTGGAGCAGGGAGTCCGGACTGGGGGCCAGGATGCGGGTCCTCTCGTCCGCTACATCTTGGTCCTCAGGAAGCACAGGCATCCGGGTGTATAATTCTGTCTGATTGACCAGGACAAAGACCGCATGCGTGAACCCAGCCGCAGGGCGGCTTCCGTGGAGAAGGGAGGGGCGGGGGTGGATGTGGGAGGTCTGGTGGGACTAAGGCCTTCAAGGCTTCTCGTCCCAATCTCAGGCCCCACAGGTGCGACTCAGACCTTTTACTAGAAGACACAGTGGTCTTACGGGGCTAAACTAGCATCCAGGAGACATAAACTATCTGAGGAAAAAGAACTGTGCGGGACTCATGGAGAAAAATCATAAATCTGCTGGGGAATATAAAATAAGATTTTTAGACAATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAACTGATTCTCCTGCTTCAGCCTCCCGAGTAGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACTGTGTTGGCCAGGCTGGTCTAGAACTCCTGACCTTTGGTGATCCGTCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATTAGCCACCATGGCTGGCCTGAAAGTAAGATTTTTGTTTTCAGATTTAGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGATGCAATGGTGTAATCATAGGTCACTGCAGCCCGGACCTCCCAGGCTTAAGCCTCCTGTCTCAGCTTCCCTAGTAGCTAGGATTACAGGTGTGTGCCATCATGCCTAGCTAATTTTTAAAACTGTTTAGAAGAGATAGGGTCTCACTATGTTGCCCAGACTAGTCTTGAACTCCTGGCTTCAGGTGATCCACCTACCTCTGCTTTCTAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCCAAAGATTTTAACACGTGGAGACAGTTCCCTTTTTAGAGAAGTCTGACTATTTTAAAGAAGTGAATTCCCCCTCGGCTAAGCTGTATGTGCAATGCAATGTCAACACATTTGCTTTTGTTTGTTTGAGGGAGGGGATGGAGACCTGAGAAAATGAACGTTTTCAATAAACACGTGGAGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCAACCCTCAGCCCCACATCCCCTCCTCCGGGCACTGGGTGTCCCTGGGCACCACCTCTGCTCAGCAGGACTGGGCACCCCTCAGCCCCACATCCCCTCCTCCAGGCACTGGGTGTCCCTGGGCACCACCTCTCCTCAGCAGGACGGCCCTGGGCCCCCAGGCTGACTCCTCGGCAGGGGCTCACAACTCGACAGCCCTTGTGAGTGGCGAGGGCTGTGCCCCGCCCTGGCTGTAAGTGCCGGCTGGTGCTGAGGCCGTACAGTGGGAGACCATCTGGTGCAGGAGCTGCCTGGTGGAGAAGGAGGTGGAGCTGCCCCAGGTTGTGCTGGGCCCAAGCAGAGACGTGGGGAGCATCTCGCCAGTGTCCTGGGCTCCCGGAGCCACTCACCAGTGTCCGCCTCCTCCGGAGGGCGCAGAGGATGCCCCTGAGTCTCTGAAGCA
Task1_train_22190
The gene ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; See cases
ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTGGTTTTTTCTTTCTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTGGAATCCAGGGGTGCAGGGGTGCAGGGGTGTGATTTCGGCTCACTGCAACCTCTGCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTTAGTAGAGACGAGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGGTCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTATGCACAGCTGCGAAACACTTTCTAAGAATAAAATTAATAGAAGAAGTCACAAGAGAAAGGATGTTGCTACATTAAGTACAAAATCTAGGCCGGGTGCAGTGGCTCACACCTGGAATCCCAGAACTTTGGGAGGCTGAGGCGGAAGGATCACTTAAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATAACAAGACCCCATCTCTACAAAAAAAATAAAAAAACTAGCCGGACATGTTGATACACACCTGTAGTCCCAACTATTCGGGAGGCTGAGGTGGGAGATCACGAGCCCAGGAATTCAAGGCTGCAGTGAGTTGTGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTTTAAAATAAACAAATGTGGCCAGGCATGGTGGCTCATGCCTGACATCTTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGACTGGGCAGCAGAGTGAGGCTCCATCTCAAAACAAATAATAAATAAATAACAAATAAAATAAATAAATGTAAAATGGAAAAAAATCTGACAAAATCAAACAACAAACTGGAGAAAAGTGCAATAAACTGATATTATCCAGATAATATCCAGACTGATAGATAGTGTCATGGAACACTGGCTTCCCTCCCCTTGCTGGTTCTGCCGTGTGTGTGAGACAGTGATGAGCAGGTGGTAACATCTCCAGCTCTGACACTGAGACCAAATTCACCACCCACATACAAATACAGACTCGGTTTCACGAGTAGTTCTGAGTGCAGCCGCAGCACGTGTTGAGCCTGGTGTCAGAAGGGGGAGTGTGAGCCCTGCATCAGCGCTGAGCACCCTTTTGGTGAGTCAGATACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGGACCAGCTGGGAGATGTCTTCCGGGTTGCAGTGCGGCTCCTTCACCAGCGTCATGTGATAGCCGGCACCTGGAATACAGGGCCACGTGTGAGATCTTTGGCTGATCCCCCAGGTCTCTTCATGCCCACCCCGGGGTCTCTAGGGCTCACACCAGGCAAGCTGGTGGGAAGGAGGCTAGAGAACCGGAGGTGGGCAGCTGAAGCAGAATGAATGTGTCTTGGAGCTCCCTGTGCTGTCCCAAGGGTGTCACCTCCCGCTCCTGCTGGGAAGAGCTGCTGGGGATCTAGGGTGCTGAGCACTGTCAGGGGCACCTGCTGGAAGGTGGGGTCTCCCCCCAGCTATACAAGCACCAGGGAAGGATATCATCAGCAGCGACGGACCACGTGTGAGGGCTTCTGTCTTGTGGGGTTAACACTGATGGTTATGGTGTGGTTCTAGGAAGGGACTGTCAGCAGGAGCAGGAGCAAGAGCTACCGGCTGCAAGACCGCACTGCACGGCACTATCAGAGATGCATCTCACCTCTTTCCCAACGTCACCGTGCAGGAGATGGAATTCCATGTCCTTTTTTTTTTTTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGCTGCACAATCTTGGCTCACTGTAACTTCTCCCTCCTTGGTTCAAGTACTTATTCTCCTGCCTCAGCCTCCCCAAGTAGCTGGGATTACAGGCATGCACCACCATACCTGGTTAAGTTTTTGTATTTTAGTAGAGACAGAGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGGTGAGCCACCACGCCTGGCCCCATGTCCTCTTTAGAGACAAGGATGCCAGGCCCAGGAAGAACAATGGCTCTGCCAACTGGGCAGTGGGGCAGGAAGTGGCTAGTGAAACTCTCAGAGGCCGTGGTGGATGGTTCCTCATCTCCTAACGCCTGCTGTCCTCCCTCTTGGTAACAAAACCCTGGTATCTTGGCTGAGCATGTGGCTGCCCAGGACAAAGGCCATCCCCTCCAGCCTACTGCTGACCACACTGGGTTGCCACTCAGTCACTAGGGGGCAGAAGTGGGACGTGAACTTGGGGGGTGTCCTGAGGGGAGGAGGGCTCCTATGTCTTTGCTCCACCCCGTTGGAATGTGGGGGACGCTGGCACACCCAGATCGTGCTGGACCAGGAGGTGACCTTGAAAGGGAAGCCGTAGTTGCACAGTACAGTCAGAGGTCTGGGCCCAGATCCTGTCAGCCCCTGCTGGCCCTGGCCATGCTGTGAGCTGCTCTCACGTGGGAGCTGCCATGTTGGTGCGTGTGTTGGCCTCTCCAAGGGCAGTGCTGCTCCTAGTGGCACTAGGCTTGGCCTCTGTTCTTCTGGTCATGGCTGAACCACATCCTAACCAAATTGAGACTTTCAGCTCCATTTCCTGCCTCTTCCCTCTCACAAGCCCCCCTGCCTGGTTGGGCTCTCCACCCAGAGGCAACAGACAGGAAGTCTAGAAAAGGCCACCCCTGCCTGATCTGAGGGCCCTTCATGAAGGTAGCAGCCATTCCCTCAGCACGGCAGCCAGGACACCGACCCTGTCGCGGGCTGGCCCCACCGCTCACCGTATTTCTGCTTGAGGAACAGCGAGGACCCGCAGCACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAG
ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTGGTTTTTTCTTTCTTTTTTTTTTTTTGAGATGGAGTCTCCCTCTGTCACCCAGGCTGGAATCCAGGGGTGCAGGGGTGCAGGGGTGTGATTTCGGCTCACTGCAACCTCTGCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTGTATTTTTTTTTTTTTTTAGTAGAGACGAGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGGTCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTATGCACAGCTGCGAAACACTTTCTAAGAATAAAATTAATAGAAGAAGTCACAAGAGAAAGGATGTTGCTACATTAAGTACAAAATCTAGGCCGGGTGCAGTGGCTCACACCTGGAATCCCAGAACTTTGGGAGGCTGAGGCGGAAGGATCACTTAAGCCCAGGAGTTCAAGACCAGCTTGGGCAACATAACAAGACCCCATCTCTACAAAAAAAATAAAAAAACTAGCCGGACATGTTGATACACACCTGTAGTCCCAACTATTCGGGAGGCTGAGGTGGGAGATCACGAGCCCAGGAATTCAAGGCTGCAGTGAGTTGTGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTTTAAAATAAACAAATGTGGCCAGGCATGGTGGCTCATGCCTGACATCTTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGACAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGACTGGGCAGCAGAGTGAGGCTCCATCTCAAAACAAATAATAAATAAATAACAAATAAAATAAATAAATGTAAAATGGAAAAAAATCTGACAAAATCAAACAACAAACTGGAGAAAAGTGCAATAAACTGATATTATCCAGATAATATCCAGACTGATAGATAGTGTCATGGAACACTGGCTTCCCTCCCCTTGCTGGTTCTGCCGTGTGTGTGAGACAGTGATGAGCAGGTGGTAACATCTCCAGCTCTGACACTGAGACCAAATTCACCACCCACATACAAATACAGACTCGGTTTCACGAGTAGTTCTGAGTGCAGCCGCAGCACGTGTTGAGCCTGGTGTCAGAAGGGGGAGTGTGAGCCCTGCATCAGCGCTGAGCACCCTTTTGGTGAGTCAGATACGTGCTTCTCCTTTTCAGGTCCTAATTATGTTTCTCCTTGCTAGGAGGCCTGGCACCTAGGACCCAGCCAAGCAGATTCATCTGGGCTGATGGTGCCCAGGCTGAGGGTCTAAGAGTGCCGACTGGCCAGGCCAGAGAGGGGCAGAGCAGGTGCCTCTGAGCACAAAGCCCTCATGGCCCATGGGGATCCCATCTTGGATGTATACCTGTGCGTGCCCTCCCTGGGAGGCGTACCTGTGCGTGCTCTCTCTGGGAAGGATGAAAGACAGCTCGGCCCCAGCGCTGCTCTCCAGCGTGGCGTTGGGCACGTGGTGGTGGACCAGCTGGGAGATGTCTTCCGGGTTGCAGTGCGGCTCCTTCACCAGCGTCCTGTGATAGCCGGCACCTGGAATACAGGGCCACGTGTGAGATCTTTGGCTGATCCCCCAGGTCTCTTCATGCCCACCCCGGGGTCTCTAGGGCTCACACCAGGCAAGCTGGTGGGAAGGAGGCTAGAGAACCGGAGGTGGGCAGCTGAAGCAGAATGAATGTGTCTTGGAGCTCCCTGTGCTGTCCCAAGGGTGTCACCTCCCGCTCCTGCTGGGAAGAGCTGCTGGGGATCTAGGGTGCTGAGCACTGTCAGGGGCACCTGCTGGAAGGTGGGGTCTCCCCCCAGCTATACAAGCACCAGGGAAGGATATCATCAGCAGCGACGGACCACGTGTGAGGGCTTCTGTCTTGTGGGGTTAACACTGATGGTTATGGTGTGGTTCTAGGAAGGGACTGTCAGCAGGAGCAGGAGCAAGAGCTACCGGCTGCAAGACCGCACTGCACGGCACTATCAGAGATGCATCTCACCTCTTTCCCAACGTCACCGTGCAGGAGATGGAATTCCATGTCCTTTTTTTTTTTTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGCTGCACAATCTTGGCTCACTGTAACTTCTCCCTCCTTGGTTCAAGTACTTATTCTCCTGCCTCAGCCTCCCCAAGTAGCTGGGATTACAGGCATGCACCACCATACCTGGTTAAGTTTTTGTATTTTAGTAGAGACAGAGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGGTGAGCCACCACGCCTGGCCCCATGTCCTCTTTAGAGACAAGGATGCCAGGCCCAGGAAGAACAATGGCTCTGCCAACTGGGCAGTGGGGCAGGAAGTGGCTAGTGAAACTCTCAGAGGCCGTGGTGGATGGTTCCTCATCTCCTAACGCCTGCTGTCCTCCCTCTTGGTAACAAAACCCTGGTATCTTGGCTGAGCATGTGGCTGCCCAGGACAAAGGCCATCCCCTCCAGCCTACTGCTGACCACACTGGGTTGCCACTCAGTCACTAGGGGGCAGAAGTGGGACGTGAACTTGGGGGGTGTCCTGAGGGGAGGAGGGCTCCTATGTCTTTGCTCCACCCCGTTGGAATGTGGGGGACGCTGGCACACCCAGATCGTGCTGGACCAGGAGGTGACCTTGAAAGGGAAGCCGTAGTTGCACAGTACAGTCAGAGGTCTGGGCCCAGATCCTGTCAGCCCCTGCTGGCCCTGGCCATGCTGTGAGCTGCTCTCACGTGGGAGCTGCCATGTTGGTGCGTGTGTTGGCCTCTCCAAGGGCAGTGCTGCTCCTAGTGGCACTAGGCTTGGCCTCTGTTCTTCTGGTCATGGCTGAACCACATCCTAACCAAATTGAGACTTTCAGCTCCATTTCCTGCCTCTTCCCTCTCACAAGCCCCCCTGCCTGGTTGGGCTCTCCACCCAGAGGCAACAGACAGGAAGTCTAGAAAAGGCCACCCCTGCCTGATCTGAGGGCCCTTCATGAAGGTAGCAGCCATTCCCTCAGCACGGCAGCCAGGACACCGACCCTGTCGCGGGCTGGCCCCACCGCTCACCGTATTTCTGCTTGAGGAACAGCGAGGACCCGCAGCACTGCAGCTCCCCCTTGGCCATGATGGCGATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAG
Task1_train_22191
The gene ABCA3 (ATP binding cassette subfamily A member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAGCCTGCGATGAGGGCGATGCCGATGGAGAGCTTGCGCCTCATGCCCCCGCTCAGGAAGCGGCTCCGTGAGTTCCACTTGTCCTCCAGGCCGATGATGTGCAGCATCTGCTTGACTTCTTCAGGGCACTTCTGACGTGACAGGCCCTTCAGCTGCAACGACAGGGGACGCAGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCAAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGCGACTGTCAAGTTGTCAAACAGGATGTCGTGCTGCGGGCACAGGCCCAGGCTCTTCCGGATCTGAACCATGTCCTGGGAAATTTCATACCCGCTGATGTATGCCCGTCCACTGGTGGGGGGAAAGAGACCTGGGGCCCAGCAGGAGACCCCACATTCAGCATGAAGATCCTGCTCGTCAGCACCCGCGGTAATGACCCCCCACCCCCTCTCTGTCTCCCCTAATTTCCTCTGAGGACCCTGCCCATGAGAGGGCACGGAACCCCACTCCCACTGGGGTGGGCTTTGGCTGGGCCAGTGGGAAAAAGAAGCGGCATGGAAACAGCCCTGCCACTGGGACGCACAGCTGGTCAGGGAGGAGAAACCCACGACACACACACACAGAGTCACCACAATCAGCCCCCGCCCCGGGTCCCAGCCTGTGCCACTGCCAGACACTTTGGTGCTTGGGGAAGACAGAGTGAAATGCCAGTGGCCGGTGTGGTGCACAGGGGAGAGCTCTCAGAGAGGGGTTTGGTGACAGAATTAGCATGGGGTTGAGCTGCTCCTGCGTGGTGGCCTCTGTTTTCACTGACCCTGTCAAGCTTGGGTATTCACAGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCATGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCGGCATGTCCCGGACAGAGGCGGTGAGGAGGGCAGTCCCTGCTTGTGCCCCTGGGCCTGCAGGGCTGAGGTGCATCTCCTGCCGCTGTGGTTGGGGAAGGCCCGAAAGCCCCATTGAGGGAGTGAGGCGGGGCTGGCGCTGAGATGGTGTTAAAGGGGGGCCTGCTGGTGGCAGGGGCGTGAGGCGCCTGGCCCTCACCTGTGAGCATGGAGAGGGTGGTGGTCTTCCCGGCACCGTTGTGGCCCAGCAGGACGGTGATCTGTCCCTCGTACAGGTTGAGGTTCAGGTCTCTGACGGCCGCCCTGTCCTTATTTCCCACCCTGAACACCTGCAGGAAAGGCAGAGGCTGCCCTGGGCTACCCACAGCCCCGAGGCCCACGGCCAAGGCCTCTCCTGCTCCCCTGCCCGACCGTCTCAGAAGGAACCAAGCCTAGCGTCACCATCAGTGTGCAGAGGGGAGGGACGTTTCGGGCAGATGCTGCTCCTGGCTGCTCCCCTCCGGTCTCCCCCAGCCCCAACACGTCCCAGACACCCTCAGTGTCTCTGCAACCCTGGGAGGCCCATGAGGCCGAGGCACTGCTGGACGGCTGAGTCTGGCATTTCCTGAGAAGCTGGAGATGTGGTCTGTGCCCTGGGGAACCGGTTAGAGGGCAGCGGAGGGTTCCTGCCCTCCTTCAGGGCAGGAGGGAGCAAGGCTCAGAGGGAGCGCCTGACGGGCTATGAGGTCTCACTGCCGTGCTGGTAAGTCTTCCCATGGTCCTGGCAGCCCCGGCCCTCCCTGTCCCCACAGGAGGCGGCACCTTGGACAGGTGCTTGATCTTGATCCCCGCCACCAGGTCCTCTGGCTCGGCTTCAAAGTACTCGTTTCTGAGTGCTTTCTCGGGGTCACTGTCTTCTTCCTCCTTCCCTGCAACCGCCCTTGGCTTCCCACACCAATAGGAGGGCTGGGAGGGAAGCAGACAGCTGTCAGTTTGTTTTGTTTGTGACGAGCAAAGCAACAACCAGCAGACACACTAGATGCACACAGCCATGCAGCCTCTGTCCCAGGACTTCGAGGCACTGCTGTGGAGAAGGCGCTACTCAGGGAGAGCCCCAGAGAGTCCCAACTTGTTTCATCCCTGTGAAGGCTCTAAGCCTCAGTTTCCTAACCTGGTAAGTGGGTGTAATGGTTACATACAGGCTTGTGAAGATGAACTCAGATCCGATACAGGGCAAAGGGAGTTTGTCAGCTATGAAATTTCATAGACAGAAGTTATCTAACGCTCCAGTCCAGAGGGATGTTGGAGCCAAAATGGAAAGAAAGCTGTGTCCCCATGCCACCCGGCTGTTTCTTTGCTCAAGCCCCACATGAGTTCATGACTGTAAGCAAGAGAAGCCGAAGGCGCCACGCCTCCCTCTACTATGAGGAAGCCTCTTCCCATCTTCTCTGTGGCCATCACAGAAATAACTCAGTGCATGGGGTAAGAACACAGGCACACACCTCACACAGTGCCCTCGAGGACAGCCTGGTGCCTACATGGAGGCAGTCGACACAGTGGTGCGGGCAGAGCAGCAGGGAAGGTGGAAGCAGTGCCTTGGCAGGATCAGTGCCAGGGCAGCTGCGGGGCGGGGACTCGTTTACCCGCAGCTCCACGCCCAGTGCACTTCCAGCACCTGGAACGGCATCTGGCACACACTGCACTCCACTGGTTCTCAGGGACACAGCTCTCATATGTAAAGTGATTTTAAAATCAGAATGCATCTTGGCTGGGCACGGTGGCTCGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAATCAGAATGCATCTTAAACTATAAAATGCCATAGTGTAAGTGTGGCATTTTTCTTTCTTAGTGATAGACAAAGTAACCATTACCTCTAACGGTCAGTGTCATCTTACAGTTGATGGATTACAGTAGTGAACACTTGATAACTACTTGTGGAAGCAAAGAATGAAAACAGAAATGGCCTCGGCTGGAGGTGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACC
ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCCATCCCAGGTCGAGCAGGAGGGGAACCCACTGCCTCCAGTCCCACCGCCACACCTTGGAGCCTGCGATGAGGGCGATGCCGATGGAGAGCTTGCGCCTCATGCCCCCGCTCAGGAAGCGGCTCCGTGAGTTCCACTTGTCCTCCAGGCCGATGATGTGCAGCATCTGCTTGACTTCTTCAGGGCACTTCTGACGTGACAGGCCCTTCAGCTGCAACGACAGGGGACGCAGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCAAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCACGGCCAGCGAGTTTCTGGTAAGAGGAACCTCTCCTTGACGTAGCTGGGGAGATGCAGGGCTCCTGGCGGGAGGCCGACCCTGGCCAGCGAGGTTCTGGTGAGAGGAACCTCTCCTTGACGTAGCTGGACTCAGAACCCTGGCTCCTGCCCTCCTGGCTCCCTTCCTCCAGTTTAGCTCCTCGGAAGACTGCCCCAGAAACTCGAGCACATCAGTGGAAACACCCCTGCACACCCCTGGCCCCCAACTCACCTGGGCGTAGAAATAAAGGTGCTCTGCGACTGTCAAGTTGTCAAACAGGATGTCGTGCTGCGGGCACAGGCCCAGGCTCTTCCGGATCTGAACCATGTCCTGGGAAATTTCATACCCGCTGATGTATGCCCGTCCACTGGTGGGGGGAAAGAGACCTGGGGCCCAGCAGGAGACCCCACATTCAGCATGAAGATCCTGCTCGTCAGCACCCGCGGTAATGACCCCCCACCCCCTCTCTGTCTCCCCTAATTTCCTCTGAGGACCCTGCCCATGAGAGGGCACGGAACCCCACTCCCACTGGGGTGGGCTTTGGCTGGGCCAGTGGGAAAAAGAAGCGGCATGGAAACAGCCCTGCCACTGGGACGCACAGCTGGTCAGGGAGGAGAAACCCACGACACACACACACAGAGTCACCACAATCAGCCCCCGCCCCGGGTCCCAGCCTGTGCCACTGCCAGACACTTTGGTGCTTGGGGAAGACAGAGTGAAATGCCAGTGGCCGGTGTGGTGCACAGGGGAGAGCTCTCAGAGAGGGGTTTGGTGACAGAATTAGCATGGGGTTGAGCTGCTCCTGCGTGGTGGCCTCTGTTTTCACTGACCCTGTCAAGCTTGGGTATTCACAGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCATGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCTGCATTCACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCGGCATGTCCCGGACAGAGGCGGTGAGGAGGGCAGTCCCTGCTTGTGCCCCTGGGCCTGCAGGGCTGAGGTGCATCTCCTGCCGCTGTGGTTGGGGAAGGCCCGAAAGCCCCATTGAGGGAGTGAGGCGGGGCTGGCGCTGAGATGGTGTTAAAGGGGGGCCTGCTGGTGGCAGGGGCGTGAGGCGCCTGGCCCTCACCTGTGAGCATGGAGAGGGTGGTGGTCTTCCCGGCACCGTCGTGGCCCAGCAGGACGGTGATCTGTCCCTCGTACAGGTTGAGGTTCAGGTCTCTGACGGCCGCCCTGTCCTTATTTCCCACCCTGAACACCTGCAGGAAAGGCAGAGGCTGCCCTGGGCTACCCACAGCCCCGAGGCCCACGGCCAAGGCCTCTCCTGCTCCCCTGCCCGACCGTCTCAGAAGGAACCAAGCCTAGCGTCACCATCAGTGTGCAGAGGGGAGGGACGTTTCGGGCAGATGCTGCTCCTGGCTGCTCCCCTCCGGTCTCCCCCAGCCCCAACACGTCCCAGACACCCTCAGTGTCTCTGCAACCCTGGGAGGCCCATGAGGCCGAGGCACTGCTGGACGGCTGAGTCTGGCATTTCCTGAGAAGCTGGAGATGTGGTCTGTGCCCTGGGGAACCGGTTAGAGGGCAGCGGAGGGTTCCTGCCCTCCTTCAGGGCAGGAGGGAGCAAGGCTCAGAGGGAGCGCCTGACGGGCTATGAGGTCTCACTGCCGTGCTGGTAAGTCTTCCCATGGTCCTGGCAGCCCCGGCCCTCCCTGTCCCCACAGGAGGCGGCACCTTGGACAGGTGCTTGATCTTGATCCCCGCCACCAGGTCCTCTGGCTCGGCTTCAAAGTACTCGTTTCTGAGTGCTTTCTCGGGGTCACTGTCTTCTTCCTCCTTCCCTGCAACCGCCCTTGGCTTCCCACACCAATAGGAGGGCTGGGAGGGAAGCAGACAGCTGTCAGTTTGTTTTGTTTGTGACGAGCAAAGCAACAACCAGCAGACACACTAGATGCACACAGCCATGCAGCCTCTGTCCCAGGACTTCGAGGCACTGCTGTGGAGAAGGCGCTACTCAGGGAGAGCCCCAGAGAGTCCCAACTTGTTTCATCCCTGTGAAGGCTCTAAGCCTCAGTTTCCTAACCTGGTAAGTGGGTGTAATGGTTACATACAGGCTTGTGAAGATGAACTCAGATCCGATACAGGGCAAAGGGAGTTTGTCAGCTATGAAATTTCATAGACAGAAGTTATCTAACGCTCCAGTCCAGAGGGATGTTGGAGCCAAAATGGAAAGAAAGCTGTGTCCCCATGCCACCCGGCTGTTTCTTTGCTCAAGCCCCACATGAGTTCATGACTGTAAGCAAGAGAAGCCGAAGGCGCCACGCCTCCCTCTACTATGAGGAAGCCTCTTCCCATCTTCTCTGTGGCCATCACAGAAATAACTCAGTGCATGGGGTAAGAACACAGGCACACACCTCACACAGTGCCCTCGAGGACAGCCTGGTGCCTACATGGAGGCAGTCGACACAGTGGTGCGGGCAGAGCAGCAGGGAAGGTGGAAGCAGTGCCTTGGCAGGATCAGTGCCAGGGCAGCTGCGGGGCGGGGACTCGTTTACCCGCAGCTCCACGCCCAGTGCACTTCCAGCACCTGGAACGGCATCTGGCACACACTGCACTCCACTGGTTCTCAGGGACACAGCTCTCATATGTAAAGTGATTTTAAAATCAGAATGCATCTTGGCTGGGCACGGTGGCTCGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAATCAGAATGCATCTTAAACTATAAAATGCCATAGTGTAAGTGTGGCATTTTTCTTTCTTAGTGATAGACAAAGTAACCATTACCTCTAACGGTCAGTGTCATCTTACAGTTGATGGATTACAGTAGTGAACACTTGATAACTACTTGTGGAAGCAAAGAATGAAAACAGAAATGGCCTCGGCTGGAGGTGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACC
Task1_train_22192
A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Hereditary pulmonary alveolar proteinosis
AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGCGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGTGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
Task1_train_22193
An alteration has been detected in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not specified
AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGCGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGAAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCCCTCCAGCCTGGGTGAAAGAGTGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAGTGAGTCGTGATGATGCCATTGCACTCCAGGCTGGGTGACACAGCGAGACCCTGTCTCAAAAAACAAAAAAGAAAAGAAAAAAAATGCTGTCGTTTATCACTTGTTTCTCTCTTAGGCGTCTCTGCTGCCATCACCAATCAATACAGGAGGCACTGGGAAGATGCTAATTCTACCCTTTACCAAGAGCAGTGGTTGATGAAAAGTCCTCGAAACCCAGCCAGCCTCAGTGGCTCACTCCTGTAATCCTAGCACTTTCGGAGGCCGAGGGCAGATCACTTTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAAAATTAGATGGGCATGGTGGTGCATGCCTGTGATCCCAGGTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAACCCAGAGGCAGAGGTTGAGATGAGCCAAGATCGCACCACTGCACTCAAACCTGGGAAACAGAACGAGACTCTTGTCTCAAAAAAAAAGAAAAAAAGTCCTCAAAACCCTAGACTTTGAGATCTCTGATGTAATAATTTTATTTTATTTTTTTGAGACGGAGTCTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCACGCCCAGCCTTTCTGATGTAATAATTTTGAATGTCTCAGGAAGCTGGAAGAGGCCAGATGTGGTGGCTCACGCCTGTAATCCTGGCTATTCAGGAGGCTGAGGCAGGAGGATTGCTTGAGGTCGAAAGTTTGAGACCAGGCTGGGCAACACAGTGAGACCCCATCTCTATAAAATATTTAAAATAAAAAAAAATGAAAACTGAAAGAGGCTCAGGTCACCGACTTAGATCCCACCATCAGTCAGATGCGTATGTGGTGCCAACGCTGCTGGATGCTCCAACCCTCTTGTCCTCCGAGCTTTGGGCTTCTTCGGCCCACTGCCCTGTGGCTCCCATCACCTCCTGCTGTGCCGTGGAGCTGGGCTTCCCTCGCCCGGGGCCGTGTCCAGCTATCCAGCCCACACTCAGCGCTGTATGCGGATGCTGCTGCCTTCAGTGGTCCCAACTGCCTGCCAACCGTCCCAGGTGGAGCCTTGCTGCTGGCGGCTCTTGTGGTTGGGTGCTCTCGAAGGTTACTGATTCGGAAAGAACAGGCTGGACAAGGCAAACACTCACCTTTCGCCTCAAATTTCCCAATGAGCTGGGCTCCCATTGCCATGGTGACATTAGACAGGAGGCAGGAGCAGAGCTTCTGGCTCAGAGTCATCCAGTTGTACCGAGGGGCCACGAAGAAGTAGGGGATGTAGGTGAAGAAGTAGAGGAAGCCTCCGAAGGCTGCTGCCATGTTGGCTGCAGGTGTTGGAAGACCCGGGGGGCGTGAGCGTCAGTGCCCTCAAAAGGGGCTTGGGCTCCCCGAGGTACAGGCAACCCCCTACTCCTGGGGCCGAGCCACCCAACCTGCTCCTGGCACTTGCCATCTACACGGGACACAAGCTCCAGCACGGGGGGACACCAGGTGTGGCCGGCAGCCCCTTCTCCAAGTGAGTAGTGCCCCCATCCCAGGGACCCCCACACCAACACCTCCAGCCCCTCCTCCACCTCCCATCCAGCTGCCTCCCTGACACTGCACACCTCACGTGGCTGATCCCAAACCCCTGATTCCCGCCTAAGCCCCACTTCTTTTTTTTTTGAGAAGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCGGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGCCTAAGCCCCACTTCTGCCTGGGTTGCCTGATCTCTCTCATTTGTTCATTCATGCATTCGTCAGATACGCACTGAGCACCTACTCTGTTCTAAGCACCGGGAGGCAGCCCCACACAAAACAGAGAAAATCCCTCCCCTCCCACGCCTGGAATATAGCGGGGAGACAGAGAGCAAGGTGTGCTGGATGGAGACACATGCTGGATGCAGCAAGGAGGCGCAGGATGGGAGAAGAGGCTCCCGACGGCCGGGAAGGCTTCGAGGAGGTGACATGTGAGAAGGAGCCGGAAGAGGTGAGAGAGTGGATTACGGAGAGTGGAGAGATGGGCATGTTTTCTGTCCATGCCAGCAGTGCTCAAACTGTTTGGTTTTCTTTTCTTTGTTTCCTTTTGAGATCGAGTCCCCCTCTGTCACCTAGGCTGGAGTACAGTGGTGCCATCATGGCTCACTGCAGCCTCCACCTCCCGGGCCCAAGAAGTCCTCCCACCTCCGGCTAGGGAGAGCAGCTAGGACCACAGGCACGCAGTACCATGCCTAGCTAATTTTTAAATGTTTTTGTAGAGATGGGTTTCCCTATTTTGTCAGGGCTAGTCTAAAGCTCCTAGGCTCAAGGGATCCTCCCGCCCTGGCCTCCCAAAGTGTTGGGATTACAGGTCTGAGCCACCGTGCCCAGCCATCAAAATCTTTGGTCTTAAGACCCTTTTCTATCCTTAAAAATTATTAACGACACCAAAGGGCTTTTTAAATGTGGGTTATATATATATATCCATATTTATTCTGTGAGAAATTAATACTAAGAACATTTAAAAATTCTGTTAAATTTAAGAATAACAGTAACAAATCCACTACAAGTCAACATACATTTATGAAAAAAACCCCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACAAGGTCAAGAGATCAAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGTGGTGGTGTGCGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGGCAGGAGCATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGGGTCACTGCACTCCATCCTAGCGACAGAGTGAGACTCTGTCTCAAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAACACCCACACACACACACTTTCCACAATTTACTGAGAAGAGCAGCAGTGGTTTTTCCAACTTTTTTTTCTTTCTTTTTTTTTTTTTCTGAGACAGG
Task1_train_22194
Consider a variant on Chromosome 16 in gene ABCA3 (ATP binding cassette subfamily A member 3). Determine its clinical classification and disease relevance.
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTA
CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAGGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTA
Task1_train_22195
A genomic change on Chromosome 16 affects ABCA3 (ATP binding cassette subfamily A member 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Hereditary pulmonary alveolar proteinosis
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
Task1_train_22196
A mutation in ABCA3 (ATP binding cassette subfamily A member 3), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Interstitial lung disease due to ABCA3 deficiency
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
Task1_train_22197
This variant affects the gene ABCA3 (ATP binding cassette subfamily A member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGCGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGACGAGCAGTTGTCGTACCTAATGTAGTCCTCAAAGTCCTTCTCGGAGGGAAAGCCGCGCACTGCAAAGAGAGAGCACGGGAGCTGTGGTTGCCCAATCGGCCCTCCTGCTTGAAAAATCTGCGTGGTTCAGGTCACTGGCAGATGAAAGACGGCAAATCCTCTAGGGCTTTGTAAACCCTTCCTGAGACTCAAGGCAGCTTTCATCTTTGGCAGAGAGACAAGCTGCCATCAAGGAGGGCAGAATGGCAGGGTCAGAGCCCCAGGCAGTGAGTTCTCCTGGTGCGGGTTTTTTGGAGCAGAGCTGGAGGCTCCGGGTAGCGCCTGCAGCAAGGCCCAGGGGAGCAAACCCACCACCCACCCTGCAGTGGGCTCTGCAGCCCGGGGTGGCTTCTCTTTCTCAAAACCAGAATGGTGTGTTTTTACAAATGGAGTGGATGCTAACTCAGAGTGTCTCAAAGGCTTTTTCTATCATCTGGACACTCCTTAACAATTCAGAAAGGGTTTTACTGTCGTCATTTTGTGAGGGACCAAGGCACTTCCTCTGAGTATTTGCTACAAGGAATTAAAGCCCGGGAGGTAAATGCCCAAATGAGGAGGGGAAAATGGAGGACAGCTTTCATCCCGACAGCAAGGGTTTAGGAACGGTGAGCAGCACTCACAGTGGGAGTTCCCTTCTCAGGCTTTCTCATCACTGTTTTCAGAGCTGCCCACCCAAAACCACGTCCCAGAAAAGGTTCTTGGCACCACACGGTCAAACTGTGCCCTGCCCTTGTCACAGAAGGGCTTTCCCTGGCTCAAGTCCACCCAGGCATCCCTGTAAAGTCCTGTCCACCCTACTGACCATCAGATGCAGTTCCAGGGCCTGGTACTGCTAAGGCTGCTGCACCTGCTGCTCCCCGGGGTCCTCACAGCTCTGCACAGGTGGGCGGCCAGCCCTGGTCCCATTGTACAATCAGGCATGGCCACAGAGAAGCTGGGGGATTCCTTGGGTGGCTCAGCCGCCGAGAAGAGATTTGATGCTAGATGGGCTTGATGGCTTCCTAGTCTTAGGGCCATCAGGCAAGCAAAAACCTCACTTTCTTTTTTCCCTTTTTCTGCCAGGTCGTATTTAAGTCCCAAATATCTGCTACTTTCCTTATGTATCTTATTGGACTCTGTTCACAGAGGCCTGGAGACCAGTAATGTCTTTCATAAAATGAGGGAACAGAAAGGAGCCTGGGGCAACTGCAGGCAGGTGCATTTTCTAACCTGTTCTGCCCCATGGGTTAAAATGTCACCAGGGTCCCTTTGGTGGGGACTGTGATGGTGCTATCGGACCCAAAGGAGAGACTGCTATTTACTCGCAGGCAGGCAGAGGTTTAAGGAACAGCAGTGCCTTTTACAGGTTGAAGTAGTGATGCGGGAAGAAGCAGAGGCCAAGTCTGCACAGGGTGAACTCCTCACCCAGCTGCTTCGCACATCCTGGGCTCGACCCCTGCCTGCCCAGCCGCGTGGAGGCACCACTAGGCCTGGCACCGAGAGCCCCGGCATGTCTCACCTCGCATGTTGATCACAAGTGCCCTGCGCACTGTCTCAGTGACGGTCTTGGCAGCGTCACTGTGAGAAGGGATGTAGGCAAGCTCCCAGGTGTCTCCTGGCGGAGGGAAGGTGAAGAACAGAGGCAGCTCCTGGATGGACTGGCCCGGGTAGATGGTGGCGTTGGGCACATTTTCCGACTGAATCTTCAAGTGGAGCCAGATGAGGATCCCAGAAAACAGCAATGGCAGGAAGAGTTCCAGGACCGTCACCAGGACCTTCCGCTTCTGGAAGAGATACAATAGGGCACGGTGATGGGCTGCAAGGCAGAAGCAGGGGCATGCAGACAGCCCTTCCCTCAAGGGCATCCCCAGGAGCCTCTGGGCTAGGCACGCAGCTGACCTCCCTCCAGAGTCTGGACGCACCTGCAGGGTGTAGTTCTTCCAGAGGAGGAGCGCCAGCTGCCTGAGCACAGCCATCGTCTTGCTGAAAGGGACGCCCAGTGCTAGTTACAGACCAAAGACAGAGAGTGTGGGTGCGCAATAGAAACACGCAGAGTGGGGATTTGGGGAAAAGCCATGGACCCTTTTTCCTCCATGTCTCTCACCTTCTTTTGTGCCACTTTAACTCCAAACACCCCTGGAGGGAAGGGTACAAGGCCTGTGCCATGCCCACCCTCAATCCTCTACCCTGCACATCCAAAGAGCATAGTCTTTTTGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAAATCAGGAGTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATCGTGCCACTGCCCTCCAGCCTGGGGGCAACAGAGTAAGACTCTGCCACAAACAAACAAACACCAAAAAAACCCAAAGAGCATAGTCTTTTTGGAGCCCAACTTGTTCCTTGGTGAATGTAAGATCAATGACATGCTTTTTATGTGCACTGTGACTTCTGCAGTAGTTTTTAAAATTTTTTTTGTTTCTTTTGAGACAGGGTCCTGCTCTGTTGCCCAGGCTGGAGTGCCATGGTGCGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTTGTGATCCTCCCACCTCAGCCTCCCGAGTAGGTGGAACTACAGGTGCATGCCACCAACACCCGGCTGGTCTCGAACTCCTGGCCTCAAGCAATCCTCCAGCTTCATCCTTGTAGTGCTATTTACCATTTGATAAATGCTATTAGGATGTTCTTGGTGGTTAATATGGATTTGCTATTTATTACCAAAATATTCAGGCTTATGGAATTCCACTTACTGACTGACCAGCTTTATTCTTAACCAACACTGAACCCATAAAAGAAAACTGAACATAGTGTCCTGGGTGATTTCTAAGGTTTGGAGAGAGCTGTGCAGGGAAGGGGAAAGGAGGGACTTGGAATTCTGGCCCCCATTGGCCTTGCTGCCCCGGAGCAGGCCCGGGTAGGCAGACATGCTGGTGGGGCCATCAGTCACACCCTCTCCTTGGCCCTAAAGACCGGCTTTTCCTGTTGTTATTACAGGTACTGGCATCAGAGCCTCGCAGCAAAAAGACTAGCCATTTTCTTTTTCTTTTTTCTGTTTTTTTTGGAAACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCAATGGAACCTCCGCCTCCTGGTTTCAAGCGATTCCCCTACCCCAGCCTCCTGAGTAACTGGGATTACAGGCGCCTGCCACCACGCCTGACTCATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTGCCCAGCTGCCATTTTCATCTTTACCATCTGTCCAACGAAAATTCATCCAAAAAATAATCTATCCTATATTATATAGGAACATGATATTTAAATCTGGCACATATAATGGGGAAAAAAATCTGCCAAAAGATGATCAAATACAGGTGATAGCAGAAATGAGAGCTTAGATCTGTAAAGGTATTCCCTCAATTTAGCTAAAATCTGTCTTACTAAATTTCAAATATCAGAAACAGAG
Task1_train_22198
Chromosome 16 houses a mutation in gene CCNF (cyclin F). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTTTCTTCTACCAGTTAACTGCTTATCTGCTCAGCACCCCAAGGAACGAGCCCATGATCTGTCCCAGCTCTCAAAACAAGTAAACACTGGGATGTAGCCTCCCACATTTGTACTTCTAAACGATCTGGTGTCTTGCTGGGAGAGAGTCCCTACCTGGCCGGCTGGCAGAATTGTGACTGACAGGGACCATGAGCAACACCCTCCTCCAGAATCAGGGGAGCCGAGGTCCTACCCCTACCCTCCCATCAAAGAGCAGTTCCCAGACATAAAATTCACACACCATACAGTTCACCCCTCTAAAGCCTGCAATTCTGTGGTTTTTTAGGATATTCACAGGGTTGTGCAGCCATTGCCACTGTCTAATTTTAGAATATTCTCCTCGTCCCAAAAAGAACCCCCACCCCTGCCCTGGACCCATTACCAGGGGTCAGGCGGTGGTTCCCAGCTGGAGGGAGGGTGGGACATGAAGCGTCGCGGGGTCTCCTTCCCCTGACCTTCAGAATCCAGGCTTCCGGGAGGACCACAGCAGGGGCATTGATCACAATGACCCACCTGTTCTAGACATTAATGAAGTAGGGGGAGAAAAGACAGGTGCCCCCATCCTGGAGGGCTCTACTCTCCTGAAACACAGCTGCTTTGCACTATGGTGGGCTTCAGGCATTACACTTTCCACCAAGACCATGGAGAGCTTTCCACATTCCGTCCCTAAGAGACATCCCTGGGCTCTGTCCTGTCTGTCCCCGCAGTGTCTGTGTCTGATGAGGCCCGCGCAGAAGTGAATGGCCTGAAGGCCTCTCGCTTCTTCAGTCTCGCTGAGCGGCTGAATGTGGGTGCCGCACCTTTCATCTGGCTCTTCATCCGCCCTCCGTGGTCGGTGAGCGGAAGCTGCTGCAAGGCCGTGGTTCACGAGAGCCTCAGGGCAGAGTGCCAGCTGCAGAGGGTGAGTCTGGGCGAGGGGCAGCACCTGCGAGGCCACCTGCAGGGTCCCAGGACACAGGAAGACCCCGAGGGTAGATCCTGGACCCTGGAAAGTCAGGAGCCTAAGGGAAGTGAAGATGCAGAAAACTGAGAGTGCAGATATGGGGAACGCATCTGGAAATCAGCTGGCACAGAGGAGGAAGCCTGAGAGCCAGGGTGGGCTGTGGAGTTCTGGGTACACGTGCTGACAGCTGGAAACATGGGGCTGAGGCTGCATGGGGCAGTGGGAGCTCAAGACACAAATCTGGCCAGGTGTGGTGGCTCACGCCTGTCATCCTAGCACTTTGGGAGGCCGAGGCTGGAGAATTGCTTGTGGCCAGGTGTTCGAGACCAGTCTGGGCAACATGATGAAATCTCGAAACCTCGTCTCTACAAAAAATACAAAAAAGTTAGCCAGGGGTGGTGGTGCATACCTATAGTCCCAGCTACTCAGGAGGCTGCGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGCTTGCAATGAGCCGTGACTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCCCTTTAAAAAAAAAAAAAAAAAAAGACTGAAATCTGGGAGTGGCCCTCTGCAGGGGAGGGAGGGCCAGACAGCAGGGCCATGGGCATGGGACCCAAAGACAGACAAGGGAGTGGTGGCCCCCGGGCAGTTCTCTGTGCTGGAAATCACACTTCTTTCTCCTTTTTTTAAAGACTCACAAAGCATCCATATTGCACTGCTTGGGCAGAGTGCTGAGTCTGTTCGAGGTGAGTCAAGTTGTTCTCTGCACTGGGACTTTGTGTTCGATACATCCCTAGCCGAGATCCTGGAACTGAAAAGCAGCAGAAGGGGGTGTCCAAGGCCCAAAACAAAAGGCAAGCCTTGCCCAGAAAGGCCTAGCTGGAGAAGCCAGGGGACACATGTGGGCCTGGCCACGGGCTCCGATCCTGGCTCCATGACCCGCCTGGCAGGGGAGTGGGGGACGGTGAGAACAGCAGAGCAGATCTCAAGGAGGCATCGAACCTCGATGCTCACTCGTCTGCTGGCCCTGCTCCTCGTGGGCCTCTCCTGCTCGTGTGGACCTCTCTGCCTGGCCAAAATGGTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCAGTCTCAGAAAAAAAAAAAAAAAGTATGGAAAAGGAGGAAGATGGTGAGTAGAGTGATTGAACATCAAGTAAAGAATAAGGGCCGGTCATGGTGGCTCATTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAATGTGTTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGGCATGAGAGTTGCTTGAACCCGGGAAGCTGAGGTTTTAGTTAGCCAAGATCGTGCCACTATACTTTGGCCTGGGTGACAGAGGGAGACTCTGCCTCAACAACAACAAAAAAACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGTGGATCACCTGAGGCCAGGATTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAGGATGGCGCCATTGCACTCCAACCTGGGCGACGAGTGAAACTGTCTCAAAAAATAAAAATGAAAAAGAATAAGGGAACAATGAACTCTGCTGGGATTTATTCTAGGATGAGGAGAAGCAGCAGCAGGCCCATGACCTGTTTGAGGAGGCTGCTCATCAGGGATGTCTGACCAGCTCCTACCTCCTCTGGGAAAGCGACAGGAGGACAGATGTGAGTGGTGCCTGCTCTGGGTCGGGGGGAGTTATGCTGGACAAAGGCGTAGTTGATGCTGGTCCTTGGATGCGTTTCTGTCCACAAAAGGGAGGTGGCTCTTGCTGCTCCCGGTCTCTCAGCCTCCGGGAACCACTGGTCAGTCGGCTATTCTTGGTACCCCCAAAAATGACTCCACCATTTGAGAGAGAAGAGGTGGGAAGTTAGCGTAGTGTCGGCCCTTCTGGGTCTTGGTTCTGAGTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTCTCCCTCCAGCCTTGGGGCAGGACTATCTGGGCTCCCACATTGGGGGGCAGGACTATCTGGGCTCCCACATGGGAGGCCAGGATTGAGGGACACCCTAAGATCGGTTCAGCACTGGAACTGGTCCTAAAGGACAGGTACACTGTGAGAAGAGCTGGGAAATGCGTTATTCATCTCTGCCTATCCACTCTTGCCTCTCAGCCAGCCAACCTCTTAATTTTCAAATGCTTGTGAGCTATAGCTGCTGTCAAAATTTGTGCCATTCTTGAAAGTTGTCCCATAGGTAGAACTGATCTT
TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTTTCTTCTACCAGTTAACTGCTTATCTGCTCAGCACCCCAAGGAACGAGCCCATGATCTGTCCCAGCTCTCAAAACAAGTAAACACTGGGATGTAGCCTCCCACATTTGTACTTCTAAACGATCTGGTGTCTTGCTGGGAGAGAGTCCCTACCTGGCCGGCTGGCAGAATTGTGACTGACAGGGACCATGAGCAACACCCTCCTCCAGAATCAGGGGAGCCGAGGTCCTACCCCTACCCTCCCATCAAAGAGCAGTTCCCAGACATAAAATTCACACACCATACAGTTCACCCCTCTAAAGCCTGCAATTCTGTGGTTTTTTAGGATATTCACAGGGTTGTGCAGCCATTGCCACTGTCTAATTTTAGAATATTCTCCTCGTCCCAAAAAGAACCCCCACCCCTGCCCTGGACCCATTACCAGGGGTCAGGCGGTGGTTCCCAGCTGGAGGGAGGGTGGGACATGAAGCGTCGCGGGGTCTCCTTCCCCTGACCTTCAGAATCCAGGCTTCCGGGAGGACCACAGCAGGGGCATTGATCACAATGACCCACCTGTTCTAGACATTAATGAAGTAGGGGGAGAAAAGACAGGTGCCCCCATCCTGGAGGGCTCTACTCTCCTGAAACACAGCTGCTTTGCACTATGGTGGGCTTCAGGCATTACACTTTCCACCAAGACCATGGAGAGCTTTCCACATTCCGTCCCTAAGAGACATCCCTGGGCTCTGTCCTGTCTGTCCCCGCAGTGTCTGTGTCTGATGAGGCCCGCGCAGAAGTGAATGGCCTGAAGGCCTCTCGCTTCTTCAGTCTCGCTGAGCGGCTGAATGTGGGTGCCGCACCTTTCATCTGGCTCTTCATCCGCCCTCCGTGGTCGGTGAGCGGAAGCTGCTGCAAGGCCGTGGTTCACGAGAGCCTCAGGGCAGAGTGCCAGCTGCAGAGGGTGAGTCTGGGCGAGGGGCAGCACCTGCGAGGCCACCTGCAGGGTCCCAGGACACAGGAAGACCCCGAGGGTAGATCCTGGACCCTGGAAAGTCAGGAGCCTAAGGGAAGTGAAGATGCAGAAAACTGAGAGTGCAGATATGGGGAACGCATCTGGAAATCAGCTGGCACAGAGGAGGAAGCCTGAGAGCCAGGGTGGGCTGTGGAGTTCTGGGTACACGTGCTGACAGCTGGAAACATGGGGCTGAGGCTGCATGGGGCAGTGGGAGCTCAAGACACAAATCTGGCCAGGTGTGGTGGCTCACGCCTGTCATCCTAGCACTTTGGGAGGCCGAGGCTGGAGAATTGCTTGTGGCCAGGTGTTCGAGACCAGTCTGGGCAACATGATGAAATCTCGAAACCTCGTCTCTACAAAAAATACAAAAAAGTTAGCCAGGGGTGGTGGTGCATACCTATAGTCCCAGCTACTCAGGAGGCTGCGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGCTTGCAATGAGCCGTGACTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTCCCTTTAAAAAAAAAAAAAAAAAAAGACTGAAATCTGGGAGTGGCCCTCTGCAGGGGAGGGAGGGCCAGACAGCAGGGCCATGGGCATGGGACCCAAAGACAGACAAGGGAGTGGTGGCCCCCGGGCAGTTCTCTGTGCTGGAAATCACACTTCTTTCTCCTTTTTTTAAAGACTCACAAAGCATCCATATTGCACTGCTTGGGCAGAGTGCTGAGGCTGTTCGAGGTGAGTCAAGTTGTTCTCTGCACTGGGACTTTGTGTTCGATACATCCCTAGCCGAGATCCTGGAACTGAAAAGCAGCAGAAGGGGGTGTCCAAGGCCCAAAACAAAAGGCAAGCCTTGCCCAGAAAGGCCTAGCTGGAGAAGCCAGGGGACACATGTGGGCCTGGCCACGGGCTCCGATCCTGGCTCCATGACCCGCCTGGCAGGGGAGTGGGGGACGGTGAGAACAGCAGAGCAGATCTCAAGGAGGCATCGAACCTCGATGCTCACTCGTCTGCTGGCCCTGCTCCTCGTGGGCCTCTCCTGCTCGTGTGGACCTCTCTGCCTGGCCAAAATGGTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATTGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCAGTCTCAGAAAAAAAAAAAAAAAGTATGGAAAAGGAGGAAGATGGTGAGTAGAGTGATTGAACATCAAGTAAAGAATAAGGGCCGGTCATGGTGGCTCATTCCTGTAATCCCAGCACCTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCCAATGTGTTGAAACCACGTCTTTACTAAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAGGCATGAGAGTTGCTTGAACCCGGGAAGCTGAGGTTTTAGTTAGCCAAGATCGTGCCACTATACTTTGGCCTGGGTGACAGAGGGAGACTCTGCCTCAACAACAACAAAAAAACCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGTGGATCACCTGAGGCCAGGATTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGGGCTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAGGATGGCGCCATTGCACTCCAACCTGGGCGACGAGTGAAACTGTCTCAAAAAATAAAAATGAAAAAGAATAAGGGAACAATGAACTCTGCTGGGATTTATTCTAGGATGAGGAGAAGCAGCAGCAGGCCCATGACCTGTTTGAGGAGGCTGCTCATCAGGGATGTCTGACCAGCTCCTACCTCCTCTGGGAAAGCGACAGGAGGACAGATGTGAGTGGTGCCTGCTCTGGGTCGGGGGGAGTTATGCTGGACAAAGGCGTAGTTGATGCTGGTCCTTGGATGCGTTTCTGTCCACAAAAGGGAGGTGGCTCTTGCTGCTCCCGGTCTCTCAGCCTCCGGGAACCACTGGTCAGTCGGCTATTCTTGGTACCCCCAAAAATGACTCCACCATTTGAGAGAGAAGAGGTGGGAAGTTAGCGTAGTGTCGGCCCTTCTGGGTCTTGGTTCTGAGTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTCTCCCTCCAGCCTTGGGGCAGGACTATCTGGGCTCCCACATTGGGGGGCAGGACTATCTGGGCTCCCACATGGGAGGCCAGGATTGAGGGACACCCTAAGATCGGTTCAGCACTGGAACTGGTCCTAAAGGACAGGTACACTGTGAGAAGAGCTGGGAAATGCGTTATTCATCTCTGCCTATCCACTCTTGCCTCTCAGCCAGCCAACCTCTTAATTTTCAAATGCTTGTGAGCTATAGCTGCTGTCAAAATTTGTGCCATTCTTGAAAGTTGTCCCATAGGTAGAACTGATCTT
Task1_train_22199
The gene CCNF (cyclin F) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCACAAGACCTGATTGCAGTGGTCCATATAACTATCACCACAGCTCCCTCAAATCAACTCTGCCTTATTATCTTTTTTTTTTTTTTTTTTAAATCCGGGGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGTGGGCGGATCGTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATTACACCATTGCACTGCAGCCTGGGCAATGGCGCAAGACTCTGTCTCAAAAAAATACAAACAAAATTAGCCAGACGTGGTAGTGGGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTAATCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAAAAAAAAAGATTTTAAAGGCTGAGCTGCCCCCCACCTCTGCTCTCAGAGGTGCCCTGCCCCCACCAGCCATCTCACACCCCACGCTGGGCTCTCATTGGCCACTGACATCTTGTCTTTTTGGCGTCTGCAGCCCCCACGCTGGCAGGTGTAGTCCCTGCGCCTCTTGTCCTCTTGGTCAAGTGAATGACGCATGCAACCTGCAGAGTCCCCAGGACAGAGCAGCCAAGGGACTTGGCCTCAGTCCAAGGGGAAGGTGCCTTGCGGGGGGCCGCTGGAGCAGCGTGTTCCCTGATAGTTGGCGCTGGTTGACAACAGAGAACAGGGTGACCATCGCCTAGAGACAGTCAGGATTCCTGCGGCCACACAGTGCCGGGCACAGACTTTCCAACAACCCTTGGGCCCTTTGCCTCCAATTCCTAGATCTGGTGACTCACCCACCTTCTGGGTCTATAACATTTCTACCCCACTGATAGAGCTGTCACGTGACAGGCAAATCTCTGTCCTTGGTGTCTTTTAGCAAACTGAATGCTCAGGGCACTTGGGCCTTTTGCAGACATTTGTGAGTCTGCCTAACAGCCTTGCTGCTTTCTGTCTGCCTTGTGGCTCTCATCCCTCTTTCCAGCACTTTCTGACCTCCCCTTTGTTATTATTATGATGATTATTTTTTGAGACAGTGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTGTAATCAAAGCTCACTGCAGCCTCAACTTCCTGGGCTTAAGCAATCCTCCCACCTTAGCGTCCCAAGTAACTGAGACTATAGGCACGTGCCACCATGCTCTGCTAATTTTTTATTTTTTAACTTTTTGAAGAGATAGGGTCTTGCTTTGTTGCCCAGGGTGGTCTCGAACTCCTGGCTGAGCTGTCCTCCTGCCTGGGCCTCCCCTTTTTTAAATGCCCCTTGTCAGCCACAGGCAGCTGGCTCCATTATGAAGCCTCTGTTTGTCACCAAAGCCCAACGCCATGGCTCCCTCCCTACCTTGAGGCCTCCTAAAGCCTTGGGTCCCTCCGCCCCACCCCTGCCCCAGGAAGTGGGCTCCACCCTGAGACCCCTTCTCGGCGTTGCAGGTTTATCAGTAAAGAGATCCTGACCATCCGGGAGGCCGTATGGCTCACGGACAACACTTACAAGTACGAGGACCTGGTGAGAATGATGGGCGAGATCGTCTCCGCCTTGGAAGGGAAGATTCGAGTAAGCAGCGGTTCCATTTTCCTTATTAATCTTCGTTGTCGCTGTGCTGGAGGGTGGGGGTGGGCATTCAGCTTTCCTGCTGTGGGAGGGCCTCATGGACTCAGAGAGCAGCTGTCTCTGCTGTGCCCAAAGCCATGGAGCAGGAGGCCACGGTTGCACCACGTCGCCATCTGCGCTGGTGCGCTACGCGTGCAGCATCGGCGTGAACATCATCCGGGCCAGACCCTGCGCTGGGCCTGCATGCGGCACTGCACCAAGGAGCCCCCGAGCGCTGAGAGCCCACACCCCGTCCCGGCTGTCTAGGTCCCCACTGTGGTGGATTACAAGGAGGTCCTGCTGACGCTAGTCCCTGTGGAGCTGAGAACCCAGCACCTGTGCAGCTTCCTCTGCGAGCTCTCCCTGCTGCACACCAGCCTGTCCGCCTACGCCCCAGCCCGCCTGGCTGCCGCAGCCCTGCTCCTGGCCAGACTGACGCACGGGCAGAGTAAGGAGTGGCCCTTCCCAGGGATGCCTGTGTCGGGGAAGGTGCTGACATAGGAGGAGGCTGTGGGGAGGAAAAGAGTCCAGCATCCATTTGTCCTGGTTACTTCTTGGGGGGTGAGATACAGCACGGCTCCTACCTTCAGTGATGTCCCAGATTTCTGACCATGAGCCTGCACGCCCTATGTATGGGTTTTTTTCAAAACTATTTTAAAAGGATTGCAACCCTGAGCTCCAAGAAACTCCACAGCAGAGCCCACAGAGCTATAGAGCGGGAGTGTTCAGGCGGCTGTCACCACAGCCCCTCCGTCCCCTCCATCCCCTCCGTCCCCTCCATCCCCTCCACCCCTGGCCTGCTTTCCTCCCCAGCACAGCCCTGGACCACTCAGCTGTGGGACCTCACCGGATTCTCCTATGAAGACCTCATTCCCTGCGTCTTGAGCCTCCATAAGAAGTGGTGAGTTTTGGCCGGGCGCAGAGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGCAGAGGTTGCAGTGAGTTGATATCACGTCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAAACAACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGCGGATCACCGAGGTCAGGAGTTCAAGACCAACCTGGTCAACGTGGCAAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCCAGGCAACGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGTTCCAGTAGTTTCTTATCTCACACATTTTTCACATTGAGAGCAGCTGCTCCCAACCCAAGCTCATTGCACAGGCAGCAGAACATACTAGAAAAAATGAGGGCATCTCCCTGACCCGTGGTAACTTGTGCGTGTTGTCAAGTTGTCATCTAGCTCAGGCACTGGCACACCGTGGCCCTCAGGCGGCATCTGGCTGCTTTTGCGAATGGGGTTTTCTTGGCAGCAGCCACCCTCACTGGTTTCCACATTGTCTGCTGCTGCTTTTGCTCTGGCGGTGGCTGAGCTCATAGTGCAGCGGACACCACGTGGCCCCCAGTCAGGAAAATACTCCCCTTCCCTTGAGAGAACAGCTTCTGCCCTGATGCAGCTGCTGGGATAGAGCTATCCTCTGTCTCACTGAGAAGATGGAGACTGCGGGTGGGTCCCTTGCGCCGTCGTGCCCGGATGTGACCCCCTGT
CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCACAAGACCTGATTGCAGTGGTCCATATAACTATCACCACAGCTCCCTCAAATCAACTCTGCCTTATTATCTTTTTTTTTTTTTTTTTTAAATCCGGGGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGTGGGCGGATCGTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGAGAGGCAGAGGTTGCAGTGAGCCAAGATTACACCATTGCACTGCAGCCTGGGCAATGGCGCAAGACTCTGTCTCAAAAAAATACAAACAAAATTAGCCAGACGTGGTAGTGGGCGCCTGTAGTCCCATCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTAATCCAGCCTGGGTGACAGAGGGAAACTCTGTCTCAAAAAAAAAAAGATTTTAAAGGCTGAGCTGCCCCCCACCTCTGCTCTCAGAGGTGCCCTGCCCCCACCAGCCATCTCACACCCCACGCTGGGCTCTCATTGGCCACTGACATCTTGTCTTTTTGGCGTCTGCAGCCCCCACGCTGGCAGGTGTAGTCCCTGCGCCTCTTGTCCTCTTGGTCAAGTGAATGACGCATGCAACCTGCAGAGTCCCCAGGACAGAGCAGCCAAGGGACTTGGCCTCAGTCCAAGGGGAAGGTGCCTTGCGGGGGGCCGCTGGAGCAGCGTGTTCCCTGATAGTTGGCGCTGGTTGACAACAGAGAACAGGGTGACCATCGCCTAGAGACAGTCAGGATTCCTGCGGCCACACAGTGCCGGGCACAGACTTTCCAACAACCCTTGGGCCCTTTGCCTCCAATTCCTAGATCTGGTGACTCACCCACCTTCTGGGTCTATAACATTTCTACCCCACTGATAGAGCTGTCACGTGACAGGCAAATCTCTGTCCTTGGTGTCTTTTAGCAAACTGAATGCTCAGGGCACTTGGGCCTTTTGCAGACATTTGTGAGTCTGCCTAACAGCCTTGCTGCTTTCTGTCTGCCTTGTGGCTCTCATCCCTCTTTCCAGCACTTTCTGACCTCCCCTTTGTTATTATTATGATGATTATTTTTTGAGACAGTGTCTTGCTCTGTCACCCAGGTTGGAATGCAGTGGTGTAATCAAAGCTCACTGCAGCCTCAACTTCCTGGGCTTAAGCAATCCTCCCACCTTAGCGTCCCAAGTAACTGAGACTATAGGCACGTGCCACCATGCTCTGCTAATTTTTTATTTTTTAACTTTTTGAAGAGATAGGGTCTTGCTTTGTTGCCCAGGGTGGTCTCGAACTCCTGGCTGAGCTGTCCTCCTGCCTGGGCCTCCCCTTTTTTAAATGCCCCTTGTCAGCCACAGGCAGCTGGCTCCATTATGAAGCCTCTGTTTGTCACCAAAGCCCAACGCCATGGCTCCCTCCCTACCTTGAGGCCTCCTAAAGCCTTGGGTCCCTCCGCCCCACCCCTGCCCCAGGAAGTGGGCTCCACCCTGAGACCCCTTCTCGGCGTTGCAGGTTTATCAGTAAAGAGATCCTGACCATCCGGGAGGCCGTATGGCTCACGGACAACACTTACAAGTACGAGGACCTGGTGACAATGATGGGCGAGATCGTCTCCGCCTTGGAAGGGAAGATTCGAGTAAGCAGCGGTTCCATTTTCCTTATTAATCTTCGTTGTCGCTGTGCTGGAGGGTGGGGGTGGGCATTCAGCTTTCCTGCTGTGGGAGGGCCTCATGGACTCAGAGAGCAGCTGTCTCTGCTGTGCCCAAAGCCATGGAGCAGGAGGCCACGGTTGCACCACGTCGCCATCTGCGCTGGTGCGCTACGCGTGCAGCATCGGCGTGAACATCATCCGGGCCAGACCCTGCGCTGGGCCTGCATGCGGCACTGCACCAAGGAGCCCCCGAGCGCTGAGAGCCCACACCCCGTCCCGGCTGTCTAGGTCCCCACTGTGGTGGATTACAAGGAGGTCCTGCTGACGCTAGTCCCTGTGGAGCTGAGAACCCAGCACCTGTGCAGCTTCCTCTGCGAGCTCTCCCTGCTGCACACCAGCCTGTCCGCCTACGCCCCAGCCCGCCTGGCTGCCGCAGCCCTGCTCCTGGCCAGACTGACGCACGGGCAGAGTAAGGAGTGGCCCTTCCCAGGGATGCCTGTGTCGGGGAAGGTGCTGACATAGGAGGAGGCTGTGGGGAGGAAAAGAGTCCAGCATCCATTTGTCCTGGTTACTTCTTGGGGGGTGAGATACAGCACGGCTCCTACCTTCAGTGATGTCCCAGATTTCTGACCATGAGCCTGCACGCCCTATGTATGGGTTTTTTTCAAAACTATTTTAAAAGGATTGCAACCCTGAGCTCCAAGAAACTCCACAGCAGAGCCCACAGAGCTATAGAGCGGGAGTGTTCAGGCGGCTGTCACCACAGCCCCTCCGTCCCCTCCATCCCCTCCGTCCCCTCCATCCCCTCCACCCCTGGCCTGCTTTCCTCCCCAGCACAGCCCTGGACCACTCAGCTGTGGGACCTCACCGGATTCTCCTATGAAGACCTCATTCCCTGCGTCTTGAGCCTCCATAAGAAGTGGTGAGTTTTGGCCGGGCGCAGAGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGCAGAGGTTGCAGTGAGTTGATATCACGTCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCTAAAAACAACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGCGGATCACCGAGGTCAGGAGTTCAAGACCAACCTGGTCAACGTGGCAAAACCCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGCAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCCAGGCAACGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGTTCCAGTAGTTTCTTATCTCACACATTTTTCACATTGAGAGCAGCTGCTCCCAACCCAAGCTCATTGCACAGGCAGCAGAACATACTAGAAAAAATGAGGGCATCTCCCTGACCCGTGGTAACTTGTGCGTGTTGTCAAGTTGTCATCTAGCTCAGGCACTGGCACACCGTGGCCCTCAGGCGGCATCTGGCTGCTTTTGCGAATGGGGTTTTCTTGGCAGCAGCCACCCTCACTGGTTTCCACATTGTCTGCTGCTGCTTTTGCTCTGGCGGTGGCTGAGCTCATAGTGCAGCGGACACCACGTGGCCCCCAGTCAGGAAAATACTCCCCTTCCCTTGAGAGAACAGCTTCTGCCCTGATGCAGCTGCTGGGATAGAGCTATCCTCTGTCTCACTGAGAAGATGGAGACTGCGGGTGGGTCCCTTGCGCCGTCGTGCCCGGATGTGACCCCCTGT