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_22200
|
A sequence alteration has been identified in CCNF (cyclin F) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
|
AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACT
|
AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGGGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACT
|
Task1_train_22201
|
Gene LOC105371050, CCNF (uncharacterized LOC105371050| cyclin F) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
|
CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACTGCCTTGGCC
|
CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCAAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACTGCCTTGGCC
|
Task1_train_22202
|
The gene TBC1D24 (TBC1 domain family member 24) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; DOORS syndrome
|
AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTG
|
AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCGAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTG
|
Task1_train_22203
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
Task1_train_22204
|
A mutation on Chromosome 16 affecting TBC1D24 (TBC1 domain family member 24) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
Task1_train_22205
|
Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
|
Task1_train_22206
|
With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22207
|
Given this context: Chromosome 16, gene TBC1D24 (TBC1 domain family member 24) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22208
|
With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22209
|
This variant affects the gene TBC1D24 (TBC1 domain family member 24) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22210
|
The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22211
|
This is a variant in TBC1D24 (TBC1 domain family member 24), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Developmental and epileptic encephalopathy, 16
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22212
|
Chromosome 16 houses a mutation in gene TBC1D24 (TBC1 domain family member 24). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22213
|
The following genetic variant occurs in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; DOORS syndrome
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22214
|
Here is a mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Familial infantile myoclonic epilepsy
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22215
|
A genetic alteration is present in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
|
Task1_train_22216
|
Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; DOORS syndrome
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
Task1_train_22217
|
A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
Task1_train_22218
|
Gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
Task1_train_22219
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
|
Task1_train_22220
|
Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
|
CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCC
|
CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCTCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCC
|
Task1_train_22221
|
A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
|
AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACAC
|
AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTTACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACAC
|
Task1_train_22222
|
A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; DOORS syndrome
|
AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTC
|
AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACCGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTC
|
Task1_train_22223
|
A change on Chromosome 16 affects gene TBC1D24 (TBC1 domain family member 24). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
Task1_train_22224
|
A mutation found in TBC1D24 (TBC1 domain family member 24) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
Task1_train_22225
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
|
Task1_train_22226
|
Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
Task1_train_22227
|
Mutation context: Chromosome 16, Gene TBC1D24 (TBC1 domain family member 24). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
Task1_train_22228
|
This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
|
Task1_train_22229
|
Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Developmental and epileptic encephalopathy, 16
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
Task1_train_22230
|
Here is a variant affecting TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
Task1_train_22231
|
This mutation is located in gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
Task1_train_22232
|
The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
|
Task1_train_22233
|
This gene mutation involves TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
Task1_train_22234
|
This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
Task1_train_22235
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
|
Task1_train_22236
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Familial infantile myoclonic epilepsy
|
TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGA
|
TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCCTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGA
|
Task1_train_22237
|
Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
|
CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACC
|
CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCCCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACC
|
Task1_train_22238
|
This sequence variant lies in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Developmental and epileptic encephalopathy, 1
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
Task1_train_22239
|
This alteration occurs within gene TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
Task1_train_22240
|
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
|
Task1_train_22241
|
The variant affects gene TBC1D24 (TBC1 domain family member 24), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; DOORS syndrome
|
CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTG
|
CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTTGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTG
|
Task1_train_22242
|
A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
|
GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTGGTGATCAAGCACCCCGAGCTGACCAAGCCCCCACCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTCCGCCTCCTCAGACCCCGCTGACCGCCTCTCGCCCTTCCTGGCCGCTCGCCACTTCAACCTGCCCTCCAAGACCGAGTCCATGTTCATGGCGGGGGGCAGCGACTGCCTCATCGTCGGTGAGCGCCAGCAGACGGGGCTCTGGGATGAGGGTGTGGGGTCCGGGCAGCTGAAGCTGCTGCACCCAGCCCTCCCTGACCGGGGTGGCAGAGAAGAGGCCCTGGGTGTCAGGGTGGACCAGGCATGATGGGTGGGAGGGGGCTGGAAGGGAGAGACCAGCCTGGACAGCTGGTCCTGGGGGCTATGGAGGGTCAACGGTCTGTGCGGTTTCAGAGAGGCCCGTGCAGGGCAGGACAGCTGGGACAGCAGGTGAGGTGCCTGGGTCAGTGCTGATAGGGCAGTCAGGCCGCCACTGACCTGAGCATCCTGCAGGGGGAGGAGGCGGCCAGGCGCTCTACATCGATGGGGACCTGAACCGGGGCCGCACAAGCCACTGCGACACCTTCAACAACCAGCCCCTCTGCTCCGAGAACTTCCTCATTGCTGCCGTGGAGGCCTGGGGCTTCCAGGACCCTGACACCCAGTGACGGCCTGTGCCACGGTGACTGAGCCGTGGTGGGGCGGTGGGCCGAGGCTGGGCTGCCGCCTCGGGCAGCAGAGAGCAGATGAAACCCCCATGTGGTAGGCAGGGTTGGGGGACGGCAGGACCCCATGGCCAAGCCTGGCGTTGCCTGGACCTGCTGCTGCCTCTACCTGGGGTTTGGGCTGGGCTTCCCCAGTCCACCTGCATCTGGGTCAGAGCTGGAGGGCCTGCTGTGCCCCCAGCCCCACCCAGAGCTGGCATAGGAAGTACCTTCCTCCTCCGTGGAGGCTTCCATAGCCCAAGGCCTTGGGAGTGTCTGGGTCTTGCTGCCCCTGAGCCTCTCTAGGCAGCCTGAGCCCCTGGGGTGGGAGTACAACGGCAGTGGGAACGTGCAGCTAAGGGTGGGCCTGTGGTGCCCCCTGCTGGTGCCGCATAGCATCGCGCCCTCCTGAGCAGGGCCCTGCAGCCTGGCTGGCTGGCGACTGAATCCCAGCGTAGATCCCGAGAACAGACTGGCACCCTTGGGCCTGCCCCCTGGCGGACCCCACCCCCTGTCCTGGGCGTTTGCCCCAGTTCCCTCCCCAGGCCTCCTGGGCCACCTCTCACATTAACCCTTCTTGGCTGCCTCTGAGGCTCCCCTGGGCTGCGTTTGGGAGCTGCTGGGTGGGAGGAGGAGGGTGGGATTTGTGCTGGGCTCCACCCCCAGGGAGGGTGGGAGCTGGAGGGGGATGTCACATGTCCTTGTGTTTCTGCAGAGCCTGAAGCTTTTGCTGGGCCTCCCTGCGTGTTCCCATCTGAAGAGGTAGCCCCGGGAGAGGCCCTCAGGGACCGACCCAGACCAGCAAGCTCCATTTCCAGGGGTCTGCCCAGAGAAGCCTGGACCCAGGGGGCTTCTCAGCTCCCCTCCCTTCCAGCCCAGGCCTCCTTGAGCTCCTGTAGCCTCTGCAGCTGCCCATTTCACCTCTTTGTCATTGCAATGACCTGGGGCCCAGGGTCACGCCCAAGCCCCTCTTTGTGGCATGCTCATCTCAGTGCAGCCCCAACTGCTTCTCTGCACCAGGCCCCGTGCCCTCCCCTGGCCCTGGCCACACAGCACCTCCTTGGCCACCTTGCATGGATGCATGTCCTCCCTCTGTCCCTCTTGTGGTGCTGTGGCTGGCCACGTGTCAGGGTTTTCTGTGAGCCTCTCACCTTACAGCCTTTGGGCCCCTGGGCCCCTGCCCTGCCTGAGCCCTGCGCTGGCCAGACGCAGGTAGGTGCCAGGGGAGGCCTTGCCTCTGGGCACTATAGGGGGCAGCCCCCTGCCTTGTGACCTCCCTCCATGCCCCATGACCTCCTTCAACTCGTCTTGAGGGTCTGGTCACCACGGAGGGGAGAAGGGAGACACAGAGGCCCAAGTGGCTGTTCTGGGACCATGGAAGCCTGGGTCACAGAGGCAGGTACCAGCAGTCCTGCCCCCACCCCCGTCCCTGCTGGCCTCCAGCCAGTGCCACTTGGAGTCCCCTGCACCGTGCCACTTTCCATCCCCACACCATTGCCTGCTCCTCCCATGGGGCTTT
|
GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTGGTGATCAAGCACCCCGAGCTGACCAAGCCCCCACCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTCCGCCTCCTCAGACCCCGCTGACCGCCTCTCGCCCTTCCTGGCCGCTCGCCACTTCAACCTGCCCTCCAAGACCGAGTCCATGTTCATGGCGAGGGGCAGCGACTGCCTCATCGTCGGTGAGCGCCAGCAGACGGGGCTCTGGGATGAGGGTGTGGGGTCCGGGCAGCTGAAGCTGCTGCACCCAGCCCTCCCTGACCGGGGTGGCAGAGAAGAGGCCCTGGGTGTCAGGGTGGACCAGGCATGATGGGTGGGAGGGGGCTGGAAGGGAGAGACCAGCCTGGACAGCTGGTCCTGGGGGCTATGGAGGGTCAACGGTCTGTGCGGTTTCAGAGAGGCCCGTGCAGGGCAGGACAGCTGGGACAGCAGGTGAGGTGCCTGGGTCAGTGCTGATAGGGCAGTCAGGCCGCCACTGACCTGAGCATCCTGCAGGGGGAGGAGGCGGCCAGGCGCTCTACATCGATGGGGACCTGAACCGGGGCCGCACAAGCCACTGCGACACCTTCAACAACCAGCCCCTCTGCTCCGAGAACTTCCTCATTGCTGCCGTGGAGGCCTGGGGCTTCCAGGACCCTGACACCCAGTGACGGCCTGTGCCACGGTGACTGAGCCGTGGTGGGGCGGTGGGCCGAGGCTGGGCTGCCGCCTCGGGCAGCAGAGAGCAGATGAAACCCCCATGTGGTAGGCAGGGTTGGGGGACGGCAGGACCCCATGGCCAAGCCTGGCGTTGCCTGGACCTGCTGCTGCCTCTACCTGGGGTTTGGGCTGGGCTTCCCCAGTCCACCTGCATCTGGGTCAGAGCTGGAGGGCCTGCTGTGCCCCCAGCCCCACCCAGAGCTGGCATAGGAAGTACCTTCCTCCTCCGTGGAGGCTTCCATAGCCCAAGGCCTTGGGAGTGTCTGGGTCTTGCTGCCCCTGAGCCTCTCTAGGCAGCCTGAGCCCCTGGGGTGGGAGTACAACGGCAGTGGGAACGTGCAGCTAAGGGTGGGCCTGTGGTGCCCCCTGCTGGTGCCGCATAGCATCGCGCCCTCCTGAGCAGGGCCCTGCAGCCTGGCTGGCTGGCGACTGAATCCCAGCGTAGATCCCGAGAACAGACTGGCACCCTTGGGCCTGCCCCCTGGCGGACCCCACCCCCTGTCCTGGGCGTTTGCCCCAGTTCCCTCCCCAGGCCTCCTGGGCCACCTCTCACATTAACCCTTCTTGGCTGCCTCTGAGGCTCCCCTGGGCTGCGTTTGGGAGCTGCTGGGTGGGAGGAGGAGGGTGGGATTTGTGCTGGGCTCCACCCCCAGGGAGGGTGGGAGCTGGAGGGGGATGTCACATGTCCTTGTGTTTCTGCAGAGCCTGAAGCTTTTGCTGGGCCTCCCTGCGTGTTCCCATCTGAAGAGGTAGCCCCGGGAGAGGCCCTCAGGGACCGACCCAGACCAGCAAGCTCCATTTCCAGGGGTCTGCCCAGAGAAGCCTGGACCCAGGGGGCTTCTCAGCTCCCCTCCCTTCCAGCCCAGGCCTCCTTGAGCTCCTGTAGCCTCTGCAGCTGCCCATTTCACCTCTTTGTCATTGCAATGACCTGGGGCCCAGGGTCACGCCCAAGCCCCTCTTTGTGGCATGCTCATCTCAGTGCAGCCCCAACTGCTTCTCTGCACCAGGCCCCGTGCCCTCCCCTGGCCCTGGCCACACAGCACCTCCTTGGCCACCTTGCATGGATGCATGTCCTCCCTCTGTCCCTCTTGTGGTGCTGTGGCTGGCCACGTGTCAGGGTTTTCTGTGAGCCTCTCACCTTACAGCCTTTGGGCCCCTGGGCCCCTGCCCTGCCTGAGCCCTGCGCTGGCCAGACGCAGGTAGGTGCCAGGGGAGGCCTTGCCTCTGGGCACTATAGGGGGCAGCCCCCTGCCTTGTGACCTCCCTCCATGCCCCATGACCTCCTTCAACTCGTCTTGAGGGTCTGGTCACCACGGAGGGGAGAAGGGAGACACAGAGGCCCAAGTGGCTGTTCTGGGACCATGGAAGCCTGGGTCACAGAGGCAGGTACCAGCAGTCCTGCCCCCACCCCCGTCCCTGCTGGCCTCCAGCCAGTGCCACTTGGAGTCCCCTGCACCGTGCCACTTTCCATCCCCACACCATTGCCTGCTCCTCCCATGGGGCTTT
|
Task1_train_22243
|
This is a variant in ATP6V0C (ATPase H+ transporting V0 subunit c), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCTGACACCAGGTGATCCGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTCAGGCTGGTTATTGATCTGCTCCCCTAAAAGACCATGGCATGAGTTCTGTGGGCAGAGAGGGGGCAGGGAGTTGCCAGTGCAGTCCCCACAAGCAGCTCAGTAGGCCCCTGTGGTGGCCCTGGAGGGCAGCTGGCAGAAGTCAGAAAGGCAAATGAGCCCCCGTGACACTGCTGTGTCCACAGAATTCTCCACTTTGAGAATAGGGCCCAGGAGAGGGGAACTGAAAAGAAAGGCAACATTCTCTTGGGAGAGGAAGGAGGGACAGCTCTGGAGGAGACAGGCCACCCTGGAGCCCAGCCCACCAGCACTGTTGCGGTGGGAGGCTTGGGCCCTCTGGCCAGGCTCCTGTGTGCTTGGAGCCACCCCGTGTGCAGGGGAGACCTCTCTGGGAGGTCAGCTGAGGCCTCGTAGTTGGACTGTTGATGATCCCCGTCGTCTTCTCTGCCCCCATCCTCTTCTTGGCTCACCCTGTCTCCTGTCTGGTAGAGAAGATTCTCCAATCTGTCAAGGGTTCAGGCCTGCTGTGTGGCTGAGGGTGCTGAGAGCTGCCCTTTCTGGCAGAATGTTTGGCCCTCCTAGGTTAATATTTGGGGCTGGGAGCGTTGGGGAGCTTGGCCTGGGCAGTGAGTCAAGGGAGCTCTGGCCTGGGTGACAAGAGTGGCCAGGTCAGCTGCTTCTGACCCTCCGGTCACACCCTGTAGCAGTGGCTTTGCCATCCCCAAGACCTTTGGTGGCTTTTCCAGCATGTTGTCCTGGGCAGTAGCCCCAAGGGTCGACTGACCCTGACCCCACATGGGGGCTGCTGAGGCTGCACTGAGGCTCCCTGGGGTGACAGGTGGGTTCACTGCAGAGCCAGGAGCCCCAGATGGGTCACGCCGCCCCAAGAGCTGCTGCTGGAGGAAGAGCTGGACTCTGAGGGTGGGGGCCTCACGTAGAGGAAGGAGGAGTGGCTGTCCTGGCCTCCTTTTGCTTGCCCGTGGCTGTTCCTCCTGGGTCCTCTTGCCCTGGGCTGGATGCCTTCTTCGGCTCCCCCTCTGCATGTGATAACTTGGGGTGGCCCTTGGAGCTGTGCCAAAGCTACACCTCGGGGTCCTAGTCTCAACTGGCCTGCGTACTGCTGTGGGCTCACCCCGCCTTCCTCCCACAGCCCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTACAAGTGAGCACTGGGGTCAGGCCCCTGCCCAGGGCTGGAGGACTGCAGGGAGGGGGGCGGTTCACCTGTGGGTGGTGACCCGGACCCTTGTCTCCCCCTGGTTGGCAGGCTGCTGATGTCAGTCCTCTCTTCTCGCCCCCAGGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCGCCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGCCGGGCCCGTGGCCCTGCGCGGAGCTGTGTCCAATAAAGTTCTTGGATGTGACGGGCCTGTGTCTGCTCAGCTTGTTGGGGGCGGGGGCGGGCGGGCGGGCGGGCGGGCGCCGGGCGCTGCCGGTCACGTGGGCTGGCTCGATCACGTGGGCGCGGCGGTCACGTGGCGCGCCGCTTCAGTCAGCTGAAGGTCACGTGGGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCTCACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGTGGGCGCGGGCCGGGGACTGCGGGGCTGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACAGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGAGGTCAGGCCCGCGATGCGAGCGCCCACCCACTGCGTCCCCAGGGAGGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGCGGCCCGGGGCCGGCAGGGGAACCCAGGGGAGGAGCTCTGAGCTCCATGCGACACTTCCTTTTCTGTGGCTGCAGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGGTGAGGTGAGGCTCCCTGGCTGAGGTGGAGGGGGCTCCCGGAGCAACCAGCGCCCTCATTTTCAAACTCACGCCCCACCCCCCACCCCCAGCACGTATTCCATGGTCCTGAGTCTGGCCTCCTTTGATGACCGGATCTGGGCCTGGGTCCCGCCCCTGTGCTTCTTTATCAGTTGTCGCTCTGCCTGGCCTCCCTAGACCCTCTGTCCTCCGCAGCTGTCTCCACACTGCTGGCTCAGCACCGTCTGAGCCATAGGCCGTCCCCACCCCCTGCACTGCACTCTGGCTGCCTCCAGGCTTCAGAAACCATCCCCTTAACCAAGGCCGCAGGGGATTCTGTGATTGGCACAGCGATAGTCCCTGGTCAGGCTCTTCCTCCCTAACCTGTCTGATGTGTGACTCAGTGGAACACGCCTTCCAGAAGAGACTCCCCCTGCTCCTGTACTGCTTGCCCCACGCTTCCATTTTCTTTCCTGCCCGGAAGAAATTTGGTTGTCCTTGGTCTTTTTTTATTTTAATTTTTACTTAGGTTCTACAGGGTTAACTTTTTGCTGTATGTTACTACTATTCAGGCTCCTCTTGGCTGTACCTGTGCTACTGTTTTTTACTGAACTATTTGAGAGTAGGTTGTATCCAACATGCTTTTT
|
CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCTGACACCAGGTGATCCGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTCAGGCTGGTTATTGATCTGCTCCCCTAAAAGACCATGGCATGAGTTCTGTGGGCAGAGAGGGGGCAGGGAGTTGCCAGTGCAGTCCCCACAAGCAGCTCAGTAGGCCCCTGTGGTGGCCCTGGAGGGCAGCTGGCAGAAGTCAGAAAGGCAAATGAGCCCCCGTGACACTGCTGTGTCCACAGAATTCTCCACTTTGAGAATAGGGCCCAGGAGAGGGGAACTGAAAAGAAAGGCAACATTCTCTTGGGAGAGGAAGGAGGGACAGCTCTGGAGGAGACAGGCCACCCTGGAGCCCAGCCCACCAGCACTGTTGCGGTGGGAGGCTTGGGCCCTCTGGCCAGGCTCCTGTGTGCTTGGAGCCACCCCGTGTGCAGGGGAGACCTCTCTGGGAGGTCAGCTGAGGCCTCGTAGTTGGACTGTTGATGATCCCCGTCGTCTTCTCTGCCCCCATCCTCTTCTTGGCTCACCCTGTCTCCTGTCTGGTAGAGAAGATTCTCCAATCTGTCAAGGGTTCAGGCCTGCTGTGTGGCTGAGGGTGCTGAGAGCTGCCCTTTCTGGCAGAATGTTTGGCCCTCCTAGGTTAATATTTGGGGCTGGGAGCGTTGGGGAGCTTGGCCTGGGCAGTGAGTCAAGGGAGCTCTGGCCTGGGTGACAAGAGTGGCCAGGTCAGCTGCTTCTGACCCTCCGGTCACACCCTGTAGCAGTGGCTTTGCCATCCCCAAGACCTTTGGTGGCTTTTCCAGCATGTTGTCCTGGGCAGTAGCCCCAAGGGTCGACTGACCCTGACCCCACATGGGGGCTGCTGAGGCTGCACTGAGGCTCCCTGGGGTGACAGGTGGGTTCACTGCAGAGCCAGGAGCCCCAGATGGGTCACGCCGCCCCAAGAGCTGCTGCTGGAGGAAGAGCTGGACTCTGAGGGTGGGGGCCTCACGTAGAGGAAGGAGGAGTGGCTGTCCTGGCCTCCTTTTGCTTGCCCGTGGCTGTTCCTCCTGGGTCCTCTTGCCCTGGGCTGGATGCCTTCTTCGGCTCCCCCTCTGCATGTGATAACTTGGGGTGGCCCTTGGAGCTGTGCCAAAGCTACACCTCGGGGTCCTAGTCTCAACTGGCCTGCGTACTGCTGTGGGCTCACCCCGCCTTCCTCCCACAGCCCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTACAAGTGAGCACTGGGGTCAGGCCCCTGCCCAGGGCTGGAGGACTGCAGGGAGGGGGGCGGTTCACCTGTGGGTGGTGACCCGGACCCTTGTCTCCCCCTGGTTGGCAGGCTGCTGATGTCAGTCCTCTCTTCTCGCCCCCAGGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCACCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGCCGGGCCCGTGGCCCTGCGCGGAGCTGTGTCCAATAAAGTTCTTGGATGTGACGGGCCTGTGTCTGCTCAGCTTGTTGGGGGCGGGGGCGGGCGGGCGGGCGGGCGGGCGCCGGGCGCTGCCGGTCACGTGGGCTGGCTCGATCACGTGGGCGCGGCGGTCACGTGGCGCGCCGCTTCAGTCAGCTGAAGGTCACGTGGGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCTCACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGTGGGCGCGGGCCGGGGACTGCGGGGCTGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACAGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGAGGTCAGGCCCGCGATGCGAGCGCCCACCCACTGCGTCCCCAGGGAGGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGCGGCCCGGGGCCGGCAGGGGAACCCAGGGGAGGAGCTCTGAGCTCCATGCGACACTTCCTTTTCTGTGGCTGCAGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGGTGAGGTGAGGCTCCCTGGCTGAGGTGGAGGGGGCTCCCGGAGCAACCAGCGCCCTCATTTTCAAACTCACGCCCCACCCCCCACCCCCAGCACGTATTCCATGGTCCTGAGTCTGGCCTCCTTTGATGACCGGATCTGGGCCTGGGTCCCGCCCCTGTGCTTCTTTATCAGTTGTCGCTCTGCCTGGCCTCCCTAGACCCTCTGTCCTCCGCAGCTGTCTCCACACTGCTGGCTCAGCACCGTCTGAGCCATAGGCCGTCCCCACCCCCTGCACTGCACTCTGGCTGCCTCCAGGCTTCAGAAACCATCCCCTTAACCAAGGCCGCAGGGGATTCTGTGATTGGCACAGCGATAGTCCCTGGTCAGGCTCTTCCTCCCTAACCTGTCTGATGTGTGACTCAGTGGAACACGCCTTCCAGAAGAGACTCCCCCTGCTCCTGTACTGCTTGCCCCACGCTTCCATTTTCTTTCCTGCCCGGAAGAAATTTGGTTGTCCTTGGTCTTTTTTTATTTTAATTTTTACTTAGGTTCTACAGGGTTAACTTTTTGCTGTATGTTACTACTATTCAGGCTCCTCTTGGCTGTACCTGTGCTACTGTTTTTTACTGAACTATTTGAGAGTAGGTTGTATCCAACATGCTTTTT
|
Task1_train_22244
|
A variant on Chromosome 16 in gene THOC6 (THO complex subunit 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
|
CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCGCGTGGCGGAAGGCAGGCTTGCTCCTCGGGGTGGGGGAGGGTATCCGGCTTAAGGGGGCTGCGGTGGACACCACTTCTTAATGTCGGGGGTCTTCGCGGCGCTCACCTCGGCTCCTAGGGTTCGGGACGGTACGCACCAGCCACCTTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCAAGTCAGAGAGTAGGAATTATAAATCAGTACGTTTTTCTATGTTGGGGTAGTAGAGGTACTTTTTTTTTTTTTTTAATTTTCTAGTTCTTGCAAAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTAGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCCTCCAAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAGCTAATTTTCGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCC
|
CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCGCGTGGCGGAAGGCAGGCTTGCTCCTCGGGGTGGGGGAGGGTATCCGGCTTAAGGGGGCTGCGGTGGACACCACTTCTTAATGTCGGGGGTCTTCGCGGCGCTCACCTCGGCTCCTAGGGTTCGGGACGGTACGCACCAGCCACCTTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCAAGTCAGAGAGTAGGAATTATAAATCAGTACGTTTTTCTATGTTGGGGTAGTAGAGGTACTTTTTTTTTTTTTTTAATTTTCTAGTTCTTGCAAAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTAGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCCTCCAAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAGCTAATTTTCGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACAGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCC
|
Task1_train_22245
|
This mutation occurs in THOC6 (THO complex subunit 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
|
CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCCTAGAAAAGATAGACGTATATTAATTCGGAAAATAGCTCTGTTCACCTGCCCCTGCCACCCACCTGGAGCTCCTGCCCCACAAAGCTGGCCCCTGCTCCGGATGAGCCCCTGCTCCCGATGAGCCCTTGCCCAGCATCCTGGGGCGGGGAGGGCATCAGCTTCTTTTGGAAGACAATCTGGGCCCTGTCGCTCCATTGGCCTGAAGAGGAAAGTGAGCCCCTAAGTGGGCAAGGGCAGCCCTCTGGGCCCAGCCGTCAGGTCCTTCGGAAGAGGTTACTGAGAAAGCCACCGGCGGGCCCGGGGCCCAGGCGCAGCGAGAAGCGGGGCGCGGCACGGCGCGGGGTCGACGACGACGCGGAGGCGCTCAGCTCCTTCTGGCGCTGTGAGCGCAGCTGCTGCCCGATCACCACCTGCATGTCGTCCTGCGGGAGGCCGTGGTCGGCTCAGCGCCGGTCCCGCCCCTTGCCCCGCCCCGCACACGGGCCCCGCCCCTCACCTGCCAGGCCTCCAGCTCCTGCGTGAGCGCCACCTTCTGGCGGATGGCGCGCAGCAGCTCCCGAGACAGGGAGTCTCGCTCCAGCGAGACGCGGTTGAGCTGCAGGGACAGCTCCAGGGCCCTAGGCGGGCAGGAGCAGAAGACGCGTTTGAGGGCGCTAGGGCCTCAGGGAGCCGGGGTGGCGGGGGACTTCTGTACCCGGGCGGGAGGAGGGCTGCAAACACCTAGATCAAGGAGGTCAGGGGGCCCCTGGGTGGGAGTGGGGATCATTATAACCCGTATCAGAAGAGGAATCAGGAGCCCAGGAGGGCCCAGAGGGCGCTGGGGCGGTGGTCAATGGCTTGAGGCTTACTTGTTCACGGCCTCGTCCCGGTCTGAGAGGGCACTGTGCAGGGCCTCCCCAGGGTCTTCCTGCGCCCGCAGCTCCTTCTGCCTCTGCAGCTCTTCCCGCAGGGACTGCAGCTCTGCCTGCTGCAGCGAGATCTGTGAGCAGAGGAGGGGGGCCGTGCGGCAGATGGGCCAATGGGCCTCCCTGCTTCTCCCAGCAGCCCCGACTCTGGCTCTCCCCACCCCTCCTCTGCCTGCGACAGA
|
CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCCGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCCTAGAAAAGATAGACGTATATTAATTCGGAAAATAGCTCTGTTCACCTGCCCCTGCCACCCACCTGGAGCTCCTGCCCCACAAAGCTGGCCCCTGCTCCGGATGAGCCCCTGCTCCCGATGAGCCCTTGCCCAGCATCCTGGGGCGGGGAGGGCATCAGCTTCTTTTGGAAGACAATCTGGGCCCTGTCGCTCCATTGGCCTGAAGAGGAAAGTGAGCCCCTAAGTGGGCAAGGGCAGCCCTCTGGGCCCAGCCGTCAGGTCCTTCGGAAGAGGTTACTGAGAAAGCCACCGGCGGGCCCGGGGCCCAGGCGCAGCGAGAAGCGGGGCGCGGCACGGCGCGGGGTCGACGACGACGCGGAGGCGCTCAGCTCCTTCTGGCGCTGTGAGCGCAGCTGCTGCCCGATCACCACCTGCATGTCGTCCTGCGGGAGGCCGTGGTCGGCTCAGCGCCGGTCCCGCCCCTTGCCCCGCCCCGCACACGGGCCCCGCCCCTCACCTGCCAGGCCTCCAGCTCCTGCGTGAGCGCCACCTTCTGGCGGATGGCGCGCAGCAGCTCCCGAGACAGGGAGTCTCGCTCCAGCGAGACGCGGTTGAGCTGCAGGGACAGCTCCAGGGCCCTAGGCGGGCAGGAGCAGAAGACGCGTTTGAGGGCGCTAGGGCCTCAGGGAGCCGGGGTGGCGGGGGACTTCTGTACCCGGGCGGGAGGAGGGCTGCAAACACCTAGATCAAGGAGGTCAGGGGGCCCCTGGGTGGGAGTGGGGATCATTATAACCCGTATCAGAAGAGGAATCAGGAGCCCAGGAGGGCCCAGAGGGCGCTGGGGCGGTGGTCAATGGCTTGAGGCTTACTTGTTCACGGCCTCGTCCCGGTCTGAGAGGGCACTGTGCAGGGCCTCCCCAGGGTCTTCCTGCGCCCGCAGCTCCTTCTGCCTCTGCAGCTCTTCCCGCAGGGACTGCAGCTCTGCCTGCTGCAGCGAGATCTGTGAGCAGAGGAGGGGGGCCGTGCGGCAGATGGGCCAATGGGCCTCCCTGCTTCTCCCAGCAGCCCCGACTCTGGCTCTCCCCACCCCTCCTCTGCCTGCGACAGA
|
Task1_train_22246
|
This genomic variant is located on Chromosome 16, within the LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Acute febrile neutrophilic dermatosis
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22247
|
The gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Familial Mediterranean fever
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22248
|
An alteration has been detected in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22249
|
The following genetic variant occurs in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Inborn genetic diseases
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22250
|
Given this variant in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Autoinflammatory syndrome
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22251
|
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Familial Mediterranean fever
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22252
|
Chromosome 16 houses a mutation in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22253
|
This variant affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; See cases
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22254
|
This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Acute febrile neutrophilic dermatosis
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22255
|
This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Familial Mediterranean fever
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22256
|
This alteration occurs within gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autoinflammatory syndrome
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22257
|
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22258
|
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Acute febrile neutrophilic dermatosis
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22259
|
A variant has been detected on Chromosome 16 in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Familial Mediterranean fever
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22260
|
Here is a genetic alteration in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
|
Task1_train_22261
|
Consider a variant on Chromosome 16 in gene MEFV (MEFV innate immunity regulator, pyrin). Determine its clinical classification and disease relevance.
|
Pathogenic; Acute febrile neutrophilic dermatosis
|
TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCT
|
TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTTAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCT
|
Task1_train_22262
|
This variant lies on Chromosome 16 and affects the gene MEFV (MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
Task1_train_22263
|
The gene MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Familial Mediterranean fever
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
Task1_train_22264
|
Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Familial Mediterranean fever, autosomal dominant
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
Task1_train_22265
|
Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Acute febrile neutrophilic dermatosis
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
Task1_train_22266
|
This alteration occurs within gene MEFV (MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Neuronal ceroid lipofuscinosis
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
|
Task1_train_22267
|
This is a variant in MEFV (MEFV innate immunity regulator, pyrin), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Behcet disease
|
TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCACGGCGTACTCTTCCCCATAGTAGGTGACCAGCAGAGTGGCCATCTTCACCGGCCTGGCTCTCTGGATCTGGCTCCGGGGGATCCTGGAGTGCTCCTTCTGCACACTGGTGTTCTGCAGCTTGAACTTGAACTTCTCGAAGTCATAGGGCACCAGCTCCTCCAGGGTGGACAGCAGATGGTCACTAGGGGTCTTAGCCATGGTGCTGAGCAGGAGAGGCTCGAGCCAGCTGTCTGGCTTCTGGTAGGAAAAGAAGCCTCTGTCCTTGGTGAGCAAGAAAAGGCAGGTTGTGAAATAGCGGAAAAGGCACAGGAAATGCTCTGTGTCTTGGTGGGAACTGAGACTAAGGGTAAGGGTGTGTCCATGCCGGCTGTGTTCTCTTCTTACAGGTTCAGAG
|
TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCTCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCACGGCGTACTCTTCCCCATAGTAGGTGACCAGCAGAGTGGCCATCTTCACCGGCCTGGCTCTCTGGATCTGGCTCCGGGGGATCCTGGAGTGCTCCTTCTGCACACTGGTGTTCTGCAGCTTGAACTTGAACTTCTCGAAGTCATAGGGCACCAGCTCCTCCAGGGTGGACAGCAGATGGTCACTAGGGGTCTTAGCCATGGTGCTGAGCAGGAGAGGCTCGAGCCAGCTGTCTGGCTTCTGGTAGGAAAAGAAGCCTCTGTCCTTGGTGAGCAAGAAAAGGCAGGTTGTGAAATAGCGGAAAAGGCACAGGAAATGCTCTGTGTCTTGGTGGGAACTGAGACTAAGGGTAAGGGTGTGTCCATGCCGGCTGTGTTCTCTTCTTACAGGTTCAGAG
|
Task1_train_22268
|
This genomic variant is located on Chromosome 16, within the CLUAP1 (clusterin associated protein 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Leber congenital amaurosis
|
TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGGCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCATCATCACGCCTGGCCTTTTTAAAAAATTTTTTATCGTTTAAAAACCTCTTTAGACTGGGCACAGTGATTCACGTCTATAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCGCTTGAACTCAGGGGTTCAAGACCAGCCTGGGCAATATGGCGAAACCCCATCTCTACAAAAAAAAAATATAAAAAATAGCTGGGCATAGTGGCACATGTCTGTAGTCCCAGCTACTTGGGGGCCTGAGACAGGAGGATCACCTGAGCCCAGGCGTTCGATGCTGCAGTAAGCCATGATCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACAAACAAAAAAAAACCACCAGCCTTAATTCGTAACAACCTGTGGTCCCCTTTTTAGAGGATTGCTTTAAATTTATAATATCCTGACAGTAGAACATTATTATTATTATTATTATTTCTTTTGAGATGGAGTCTCTCTGTGTTGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCACCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGTTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCCAACAGTAGAACATTATACCCAAATAAGATAATAATATATATATTTATTGATTTGGAGAGATGTGTCTGGTATGTGATTTTTTTGCCTTTAGAGATGGGGTCTCAATGTGTCACCCAGGCTGGAGGGCTGGAGTGCCACGGCAAGGTCAGAGGATCCTCACTCACTGCAGCCTTGAACTCCAGGGCTCAATCCTCCTCCTACTTCAGCCTCCCAAAGTGCTAGGGTTACAGGTGTGAGCCGATGCACCCAGCCTGATCATTTTTAACTCTATTGAGATTACGGTATATTGAAATGAAATAAAGATTATAAAATTTCTTGGTATATTTAATTTTTTTTTTAAATGCATTCCTATCTATATTTATGCATAGAAAAGTCTGGAAGGATGTATGTCAACTATCAAGCGCTTATACCTGGTGATGGGATTATCAGTAATTTTTACGTCATTCTTCATACTTTCAGGATTATTTCAAGTTTTTACAAAGAGCACATCTTATTTATGATGAAAAAGAAGTATGTTCATTTTGGGGGGAGAAAGCAGAAAAGGGAAAATATTTTTAAGCATTACAAGAATGAAGGACCTTCTCTAATTAAGGGTTTCCAGAGAAAGCCACCATGGAATCTGAAACTGTGAATACCCATTTCAAACTACTGCATATAATTCACCTTTCCTTTTTATTTCATTTGCTTCTTTTAGGCCATGTTTTATGGATGAGTATGAGAAGACTGAGGAAGAATTACAAAAGCAGTATGACACTTATCTGGAGAAATTTCAAAATCTGACTTATCTGGAACAACAGCTTGAAGACCATCATAGGATGGAGCAAGAAAGGTTTGAGGTGAGCTGAGCCTGTCCTCTGTTCAGCCATTCCTTCTGGTGTGTTATTTTGTACTGGGTGACAGGTCATTTTGTTAATATCATTGTGAAAAAAATATCAGTACATGTTTTTTCTCCCTGGTCAGTCTGAGGATTGCTCATGTAATGTGTTTGTTTTGCTGGCAGTGTACACTGGACTCCAGGGTTGTCAAATCTTTGATGTCATATTTCATCAGGTTTGGTCAGTTAAGAGAACAGACAGGGCCGACATGAGGCCTGTGTGGCTGCGTAAGACCCTGTGCCGACATGGGGCCTGTGCTTGCTTTCAGGCCCTGTTGTCACTGTCTTGAAATTCATAATAATTTTTAAGTGCATTTTATTTTCCACTGATCCCAAAAATTATGTAGCTGGTCTCGAGTGCAGATTTAAAAGCTTGCTTGGCTTTGGGAGGCCAAGACGAGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTCCTCTCATAAAAATACAAAAAATTAGCCGGGTGTGGTCGTACACACCTGTAGTCCCAGCTACTCGGCAGGCTGAGACAGGAGAATCGTTTGAACATGGGAGGAAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGACAACAGAGCAAGATCCCATCTCCAAAAATAAGAAAATAAAGCTTGCTTAGTCAGTTCACATAAAGATTTTCAAGGCAAGGTGCGATGGCTTATACTTGTAATCCCAGCACTTTGGGAGGCTTAGGCAGGAGGATCACTGGAGCCCAGGAGTCTGAGACCAGTTTGGGCAGCATAATGAGACCCTGTCTCTACAAAGAAGTAAAAATAAATTAGCTGGACATGGTGTTACACACCTGTTGTCTCAGCTACTTGGGAGGCTGAGATGGAAGGATTGCTTGAGCCTGGGAGTTTGAAGTTGGAGTGAGCCATGATCATGCCACTGCACTCCAGCTCGGTTGACAGAGCAAGACCCTGTCTCAAAAAGAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACAGCTGGTGGACCACGAGGTCAGGAGTTTGAAATCAGCTTGTCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAATTTATCTGGTATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACACCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGATTTTCAAGTCCTGGTTAATTGAATCACCAGAATAGCTCATTGGAGATTGTTTTGTAAAGAGGAATGGCAGTTTATTTATTGATTGTGGGAAATAAATGTGTGGCCTTGAGCCTGACCAACCATCTTACAGGTTCCTCTCATCCCTGTGGGTAAGGCCATTTAGGAAAAGAGTGTTTTAGACCCGAGCATGAGTTGATAAATGTGGAATTTAGAGCAAAGGAAATTGAACCAAGTTGTGATCAGTTTTTGAATTGCCCTATCCTTAACCTGAGAATGGTCATTTAGACTCCATTTTCATGATGAAATTGGTCTGCAGTCTCCCTTTCTCATGCCCTTGACAGCTTTTGGTATTAAGGTTATGCTAGGCTTCTTACAATACTGAGCATTTGAGTTTGGCAGAGCTATTTTGTTGTCCAGGAGGGCTAACTGGGAGTACCTAACGCATCCGTGTGGACACATGTCATCTTGACGAGGAATTCATTGCTAGCATTACTCTGTGGCAGAGGCAGGCCATGGAGAAATGGTACGGGACAGGCACATTTCGAGGGCACTAGAAAGAGCTTGGAGTTTAGAACATTTTAAACATTGGGTACCTGGGAAAGAACAGTCAAGGGCAGTGAAAAGAAACGTTGGCCATTTTTTTGTATTATCTGGGGCCACCTCTGGGTTCAGAGAACAA
|
TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGGCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCATCATCACGCCTGGCCTTTTTAAAAAATTTTTTATCGTTTAAAAACCTCTTTAGACTGGGCACAGTGATTCACGTCTATAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCGCTTGAACTCAGGGGTTCAAGACCAGCCTGGGCAATATGGCGAAACCCCATCTCTACAAAAAAAAAATATAAAAAATAGCTGGGCATAGTGGCACATGTCTGTAGTCCCAGCTACTTGGGGGCCTGAGACAGGAGGATCACCTGAGCCCAGGCGTTCGATGCTGCAGTAAGCCATGATCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACAAACAAAAAAAAACCACCAGCCTTAATTCGTAACAACCTGTGGTCCCCTTTTTAGAGGATTGCTTTAAATTTATAATATCCTGACAGTAGAACATTATTATTATTATTATTATTTCTTTTGAGATGGAGTCTCTCTGTGTTGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCACCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGTTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCCAACAGTAGAACATTATACCCAAATAAGATAATAATATATATATTTATTGATTTGGAGAGATGTGTCTGGTATGTGATTTTTTTGCCTTTAGAGATGGGGTCTCAATGTGTCACCCAGGCTGGAGGGCTGGAGTGCCACGGCAAGGTCAGAGGATCCTCACTCACTGCAGCCTTGAACTCCAGGGCTCAATCCTCCTCCTACTTCAGCCTCCCAAAGTGCTAGGGTTACAGGTGTGAGCCGATGCACCCAGCCTGATCATTTTTAACTCTATTGAGATTACGGTATATTGAAATGAAATAAAGATTATAAAATTTCTTGGTATATTTAATTTTTTTTTTAAATGCATTCCTATCTATATTTATGCATAGAAAAGTCTGGAAGGATGTATGTCAACTATCAAGCGCTTATACCTGGTGATGGGATTATCAGTAATTTTTACGTCATTCTTCATACTTTCAGGATTATTTCAAGTTTTTACAAAGAGCACATCTTATTTATGATGAAAAAGAAGTATGTTCATTTTGGGGGGAGAAAGCAGAAAAGGGAAAATATTTTTAAGCATTACAAGAATGAAGGACCTTCTCTAATTAAGGGTTTCCAGAGAAAGCCACCATGGAATCTGAAACTGTGAATACCCATTTCAAACTACTGCATATAATTCACCTTTCCTTTTTATTTCATTTGCTTCTTTTAGGCCATGTTTTATGGATGAGTATGAGAAGACTGAGGAAGAATTACAAAAGCAGTATGACACTTATCTGGAGAAATTTCAAAATCTGACTTATCTGGAACAACAGTTTGAAGACCATCATAGGATGGAGCAAGAAAGGTTTGAGGTGAGCTGAGCCTGTCCTCTGTTCAGCCATTCCTTCTGGTGTGTTATTTTGTACTGGGTGACAGGTCATTTTGTTAATATCATTGTGAAAAAAATATCAGTACATGTTTTTTCTCCCTGGTCAGTCTGAGGATTGCTCATGTAATGTGTTTGTTTTGCTGGCAGTGTACACTGGACTCCAGGGTTGTCAAATCTTTGATGTCATATTTCATCAGGTTTGGTCAGTTAAGAGAACAGACAGGGCCGACATGAGGCCTGTGTGGCTGCGTAAGACCCTGTGCCGACATGGGGCCTGTGCTTGCTTTCAGGCCCTGTTGTCACTGTCTTGAAATTCATAATAATTTTTAAGTGCATTTTATTTTCCACTGATCCCAAAAATTATGTAGCTGGTCTCGAGTGCAGATTTAAAAGCTTGCTTGGCTTTGGGAGGCCAAGACGAGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTCCTCTCATAAAAATACAAAAAATTAGCCGGGTGTGGTCGTACACACCTGTAGTCCCAGCTACTCGGCAGGCTGAGACAGGAGAATCGTTTGAACATGGGAGGAAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGACAACAGAGCAAGATCCCATCTCCAAAAATAAGAAAATAAAGCTTGCTTAGTCAGTTCACATAAAGATTTTCAAGGCAAGGTGCGATGGCTTATACTTGTAATCCCAGCACTTTGGGAGGCTTAGGCAGGAGGATCACTGGAGCCCAGGAGTCTGAGACCAGTTTGGGCAGCATAATGAGACCCTGTCTCTACAAAGAAGTAAAAATAAATTAGCTGGACATGGTGTTACACACCTGTTGTCTCAGCTACTTGGGAGGCTGAGATGGAAGGATTGCTTGAGCCTGGGAGTTTGAAGTTGGAGTGAGCCATGATCATGCCACTGCACTCCAGCTCGGTTGACAGAGCAAGACCCTGTCTCAAAAAGAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACAGCTGGTGGACCACGAGGTCAGGAGTTTGAAATCAGCTTGTCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAATTTATCTGGTATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACACCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGATTTTCAAGTCCTGGTTAATTGAATCACCAGAATAGCTCATTGGAGATTGTTTTGTAAAGAGGAATGGCAGTTTATTTATTGATTGTGGGAAATAAATGTGTGGCCTTGAGCCTGACCAACCATCTTACAGGTTCCTCTCATCCCTGTGGGTAAGGCCATTTAGGAAAAGAGTGTTTTAGACCCGAGCATGAGTTGATAAATGTGGAATTTAGAGCAAAGGAAATTGAACCAAGTTGTGATCAGTTTTTGAATTGCCCTATCCTTAACCTGAGAATGGTCATTTAGACTCCATTTTCATGATGAAATTGGTCTGCAGTCTCCCTTTCTCATGCCCTTGACAGCTTTTGGTATTAAGGTTATGCTAGGCTTCTTACAATACTGAGCATTTGAGTTTGGCAGAGCTATTTTGTTGTCCAGGAGGGCTAACTGGGAGTACCTAACGCATCCGTGTGGACACATGTCATCTTGACGAGGAATTCATTGCTAGCATTACTCTGTGGCAGAGGCAGGCCATGGAGAAATGGTACGGGACAGGCACATTTCGAGGGCACTAGAAAGAGCTTGGAGTTTAGAACATTTTAAACATTGGGTACCTGGGAAAGAACAGTCAAGGGCAGTGAAAAGAAACGTTGGCCATTTTTTTGTATTATCTGGGGCCACCTCTGGGTTCAGAGAACAA
|
Task1_train_22269
|
A variant on Chromosome 16 in gene CREBBP (CREB binding protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Menke-Hennekam syndrome
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
Task1_train_22270
|
Assess the clinical impact of this variant on gene CREBBP (CREB binding protein), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; See cases
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
Task1_train_22271
|
An alteration has been detected in CREBBP (CREB binding protein) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Menke-Hennekam syndrome 1
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
|
Task1_train_22272
|
The gene CREBBP (CREB binding protein), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
|
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCAGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
|
Task1_train_22273
|
A variant affecting Chromosome 16, within the gene CREBBP (CREB binding protein), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Rubinstein-Taybi syndrome
|
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
|
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCTGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
|
Task1_train_22274
|
Gene CREBBP (CREB binding protein) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; not provided
|
AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTA
|
AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCAGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTA
|
Task1_train_22275
|
A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGC
|
AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGTATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGC
|
Task1_train_22276
|
A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTG
|
AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCCTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTG
|
Task1_train_22277
|
This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Inborn genetic diseases
|
ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCT
|
ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCTTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCT
|
Task1_train_22278
|
A variant has been detected on Chromosome 16 in CREBBP (CREB binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
|
TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCA
|
TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCGGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCA
|
Task1_train_22279
|
Chromosome 16 houses a mutation in gene CREBBP (CREB binding protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; not provided
|
CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCA
|
CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTTGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCA
|
Task1_train_22280
|
Given a variant located on Chromosome 16 and affecting CREBBP (CREB binding protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Menke-Hennekam syndrome 1
|
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
|
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCCCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
|
Task1_train_22281
|
Gene CREBBP (CREB binding protein), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
|
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
|
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCCCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
|
Task1_train_22282
|
A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Inborn genetic diseases
|
CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGA
|
CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGTACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGA
|
Task1_train_22283
|
The gene CREBBP (CREB binding protein) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Menke-Hennekam syndrome 1
|
AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAA
|
AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCGCTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAA
|
Task1_train_22284
|
A variant was discovered on Chromosome 16, affecting CREBBP (CREB binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Rubinstein-Taybi syndrome
|
ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAAC
|
ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCCTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAAC
|
Task1_train_22285
|
A mutation found in CREBBP (CREB binding protein) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
|
TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCT
|
TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGCACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCT
|
Task1_train_22286
|
This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Inborn genetic diseases
|
CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTT
|
CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCACTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTT
|
Task1_train_22287
|
This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Rubinstein-Taybi syndrome
|
CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTG
|
CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGATATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTG
|
Task1_train_22288
|
This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
|
AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCA
|
AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTCATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCA
|
Task1_train_22289
|
Consider this mutation in CREBBP (CREB binding protein) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Inborn genetic diseases
|
CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGC
|
CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGCGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGC
|
Task1_train_22290
|
Gene CREBBP (CREB binding protein) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Rubinstein-Taybi syndrome
|
ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGA
|
ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACTCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGA
|
Task1_train_22291
|
This sequence variant lies in CREBBP (CREB binding protein) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not provided
|
CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGAC
|
CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCTTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGAC
|
Task1_train_22292
|
The gene CREBBP (CREB binding protein) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Inborn genetic diseases
|
TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTT
|
TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTGAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTT
|
Task1_train_22293
|
A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Neurodevelopmental disorder
|
GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTTTAAAGGACTAATGTTCTCCAAACACGGAAGAAATCTAATCTGTCCTGTGACACGAGTGTTATATAAAGGAAAGGTGGACTCTGGGATCTCAGGCACTCCACTCCTGAAAACCGTTTACGTGCCCAGGTAACCTGCATCTTTTTCTAACAGTATGGGGCAGAAGACCTATAGCGGTGGGTCCAAAATTGACAGGGGCTCTAGGGCGGAGCAGATGGATGTTTCCCTGTTGCTTCCCGCTTTCCCTGGAGGGCAGAGATGGCACACCCTCAGTGGGCTCCTCCTGCCCAGCTCTGAGGAGAAAGTCCCTACTATGGAGTCTGACGTGAACGTGGAACGTTCTAGGGCTAACCAATTAAGCTCTGGCCAGAGCCTGTCCGGTGCCTCAGGAGCTGGCAAAGTATTGGTGTCCAAGCCTGCCCTGAGCCATCGCCTCGTGCGGTGCACGAATGAAGTTTCCGAGCCTTGGCGAGGGCAGCCTTTCCTGGGCTCACCTCCCCGCCGCCACCCCTCCTCACCCAGGGCCAGCCCCGGGAGGGCTACCGTCACAGGAGCTAGCCAGAGGCAGGACATTACTTCAGGACAGAGAACGCCTCATATACAGGTTAAAAAACTATAAGGGAAAGTTGCAAAAGGTTCTTAGTGATTACGTATAGACAATGAGATTTTAAAAGATGTTTTCTTCTTTGCTGGCTTTTAAATATTTCCTACATTAGTGAGAAATAGGAAAATTGGGAATTTTCGAAGATTCCTTAGCGAGCTAGAAAATTTAGACCAAACTTCTAAATTTCATTTTTCTGCAATAAACAAACCAGTGGTGCTGATTTTTGGATAAGTTGTACCTGAATAAAAATGATTTAAAAAGAAAAATGTGGCCGGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAAAACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAAGCTGAGCGCAGTGACTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCCACTAAGAATGCAAAATTAAGTCGGGAGCGATGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGCGATCGGGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAACAGAAAAAATTAGGACTACAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGGAGGCAAGAGCTTGCAGTGAGCCGACATCACGTGACTGCACTCCAGTGTGGGCGACAGAGCGAGACTCTGTCTGCACAAACAAAACAAAACAAAAAAAAAACAAAAAAACCCCCCAAAAAAACAAACAAAAAAAACTCTTCCAGAGTAACTTCGCTATTTGACACCTGTGATCCACACATGGCTGCATACTCCAGAGGTGGTCTCAGACAGCACAGGGGTCTAGGCGCAGGCCGTGCTCACTGCGGTGCACTCTGCGCAACCTTCCTCACAGTGCTGCCTCCTTTTCTGTTATCACTCGATTTGGCCACTGTTCCTACTTTTTCATCACTCCTTGCCATTGCTGCAGTTATGTCCTTGTATGTGCCGTTATGCATATGTGCAAATATTTTTATAGGATACATGTGTGAAAGTAGACTTGCTAAATCTAAAAATGAACACT
|
GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACTGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTTTAAAGGACTAATGTTCTCCAAACACGGAAGAAATCTAATCTGTCCTGTGACACGAGTGTTATATAAAGGAAAGGTGGACTCTGGGATCTCAGGCACTCCACTCCTGAAAACCGTTTACGTGCCCAGGTAACCTGCATCTTTTTCTAACAGTATGGGGCAGAAGACCTATAGCGGTGGGTCCAAAATTGACAGGGGCTCTAGGGCGGAGCAGATGGATGTTTCCCTGTTGCTTCCCGCTTTCCCTGGAGGGCAGAGATGGCACACCCTCAGTGGGCTCCTCCTGCCCAGCTCTGAGGAGAAAGTCCCTACTATGGAGTCTGACGTGAACGTGGAACGTTCTAGGGCTAACCAATTAAGCTCTGGCCAGAGCCTGTCCGGTGCCTCAGGAGCTGGCAAAGTATTGGTGTCCAAGCCTGCCCTGAGCCATCGCCTCGTGCGGTGCACGAATGAAGTTTCCGAGCCTTGGCGAGGGCAGCCTTTCCTGGGCTCACCTCCCCGCCGCCACCCCTCCTCACCCAGGGCCAGCCCCGGGAGGGCTACCGTCACAGGAGCTAGCCAGAGGCAGGACATTACTTCAGGACAGAGAACGCCTCATATACAGGTTAAAAAACTATAAGGGAAAGTTGCAAAAGGTTCTTAGTGATTACGTATAGACAATGAGATTTTAAAAGATGTTTTCTTCTTTGCTGGCTTTTAAATATTTCCTACATTAGTGAGAAATAGGAAAATTGGGAATTTTCGAAGATTCCTTAGCGAGCTAGAAAATTTAGACCAAACTTCTAAATTTCATTTTTCTGCAATAAACAAACCAGTGGTGCTGATTTTTGGATAAGTTGTACCTGAATAAAAATGATTTAAAAAGAAAAATGTGGCCGGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAAAACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAAGCTGAGCGCAGTGACTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCCACTAAGAATGCAAAATTAAGTCGGGAGCGATGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGCGATCGGGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAACAGAAAAAATTAGGACTACAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGGAGGCAAGAGCTTGCAGTGAGCCGACATCACGTGACTGCACTCCAGTGTGGGCGACAGAGCGAGACTCTGTCTGCACAAACAAAACAAAACAAAAAAAAAACAAAAAAACCCCCCAAAAAAACAAACAAAAAAAACTCTTCCAGAGTAACTTCGCTATTTGACACCTGTGATCCACACATGGCTGCATACTCCAGAGGTGGTCTCAGACAGCACAGGGGTCTAGGCGCAGGCCGTGCTCACTGCGGTGCACTCTGCGCAACCTTCCTCACAGTGCTGCCTCCTTTTCTGTTATCACTCGATTTGGCCACTGTTCCTACTTTTTCATCACTCCTTGCCATTGCTGCAGTTATGTCCTTGTATGTGCCGTTATGCATATGTGCAAATATTTTTATAGGATACATGTGTGAAAGTAGACTTGCTAAATCTAAAAATGAACACT
|
Task1_train_22294
|
With a mutation on Chromosome 16 in gene CREBBP (CREB binding protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Rubinstein-Taybi syndrome
|
TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCACGCATGGTGCGCTCACACTGCAGCGGCACATGGACACTTACACGCTGCGGTACAGATAAGCTGACTTCTCAAACAACTCCAAAACTACGCAAGCTGTATTTTGTGGGAAACCACAACAAAAAATACTATTCTCACTCTCTACCTATTTTAAGACAGGAGATCTATTCTTTAGCCATCTTCATATTCCAAAAGAATGGCAAGTATTTCTTAAGCAGATCCACCACTCACAAAACCCTGAAATGGCCATCTTATAATAGGAGGCAACAGAATCACATTCTTGAACTCAATTAAAACACCAGATCTCATTTTGTATCGTGCTGCTAGTGTAAAATTTAAAAATAAAGATCATGGACCCTTTTCCTCTGCCTTATAGGAAGCAGCACTCATGCAAGTCTTTCCATGAGACTGATCAGGCCAAATTACCAGGCAAATATTTGCAGGTAGAATAGTAAAATCCACATTTTCTACTCTATGAACATCTTGAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGAAATTGGGCCACTTTTTATTGGAACTTCAGGAAAGAAATAATGTACACAGACTATAACCAGATGAACGTGCCTTGCCCTAAGACATAATGCAGGATGCTGCTTGACGCTTACCTATTCTGATAGCTGTAGTAGGCAGCATCGCGAGGAATGGTACACAGCTGCTTCCCATAGCAGCACAAAGTCTGTGGGGAAAACTCATACTGCAAAAATAAAGGAGAAATACTTTTATATAAAAATACATTCCATTTACTGTCTTATAATGTTCTAGTCTACTATAGAGACTAGTAAATTATTTCTGTTAGTATATTAGACAGTTTTCTAACAATTTTAGTAGCTTTAAAGACATTTTGGGATAGCATGTGATAGAACTGGCTCTAAGAGACATTCACTACAGACAGGTACCACAGGCAGAGAGGGGCAGCCAGAAACGCTTCCCCATGGCCTCCCTCAGTAAGCGCCTGTACACCCAGCTCTGATCACCCATCACATCGCTTCAGGCATCAACTGTGTCACCAGACAGCAGATTGCACATATGCACTCCCAGTATACAGGCGTGGTCTCATATTAGTATAACACCCCTCTGGCTGGATTAACCAGGAAAATTCACTTTCCGGAAAAACTTAAAACTGTACCTTGCGTCCACAGCAATATCCAAGGGACTGCATGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCAGGCATTGTTGAACATGAGCCAGACGTCGTCCACGTACTGCCAGGGCTCTTGGTATTGCCCTGTGTCCAGCTTCCGCTTGATGGTGGAGAGGTCCATGGGATTCTTTACGATGTCAAAATAGTCCTTAAAAAAAAAAAAATGGTCTCAGTATAGGGAATCCCCCAATATCCAAATGCCAGTCTCATCTGGCAGCTTTGTTTTAAAATAATAGAAACAGAAAGCACCAAAATAACTTCCATTCCCAACAGTAAGAAATAGGAAATGAAAAGAAAATAACCTCTGACGCAACTGATTTTACTCACTAAAAGTGTAATTAGTATTTTCAGGTATGATCACATTATAATACTCCAAAGGCAAAAGTAAAGAAAAATTGTTAAAAGATACTTCTAACAAAAAATTTTAAAAATAGATCTTTAATCCACTGAATTAAAATAGTGAACAAGTTTATCAAACAGTGTGTATTTCTAGATATTCACTCTTGATCCTAGCAAGCAAAATGAAATTACAAGACAAATATAAACACAAAGCTAGTAATGACTGCTACATAGAATCGGCTGGGTCCCCATGGCCTTTGCAAGGCTATCCAGGAATATAAAAGAGAGAAGCCCAAATATTTTTTTACAGTTCATGTTCACAAATTCTTTCAGACAAAAGTGACACAAGGCCCCAAATATAAAGTGAAGTCTCAGGGGCATGTGCTTCCCTTGCTTCAGTGCACCCCTCCTCCAAGGACCAGGGCTTCATGAACAGGTGAAATCAAACAAAATAAACACTTTCACTGATAACTGTTAACAGACAACAGTTTTTTATATTAGGAGAACAATCTTCAAGGCAGGGGGATTATTTTATCTAATTTCAAGAGATAAAACAATGGACACTCAGAAGTCACACCAGCAAAGTTATAATCTATTTTTATGAATTAACTTACTGGAATTCCGAGGAGCTGGGGATCTACAGGCTGCCGGAAAGGTAATGACTCTGGGTCCTGTCGATACAGTGCTTCTAGGGTTGGCATGAGGGCCTGGCGTAACTCCTCTGGTTTAAAGACTGCAGAGAAAACATCAAGAAAAGACACTTTGTAAAAGGTGCTCAGATCCCTCCTACCTCACATTTAAAACGGAATCCTGGCTGCTGTGACATCCCAGCCACGATGCTCCTAAGGCACTCGAGGGGCTCTCGTCCATCACCGTTAAGGACTAAAGCTTCTGAAAACACACTAGTGTCAGAACTGTGTTCAGCTTGTGAGGCAAAATACAACACTGGGAAGTTTGCTTCTTCCATGAAAGGTTTCCAACATTAAAAACTTGGCTGAAAAAGAAAGTAAAGCTAACTCCCAAATCTGTCTCATTCATCAAACTGGGTGGCAAATAAAGCCATTTCAGGCTGGGCATGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACTGAGGAGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTAGTGAAACCTCGTCTCTACTAAACACAAATTTAGCCTGGTGTGTGTCGGGGGTTCCTATAAGCCCCGCTACTCGAGAGGGTGAGAAAGGAAAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAGACCATTTCATTGGAAGGGACCTTAAAAGATCCTCTGAGTAAAGTTTTTTATCCTTGGCTAAATTAAATTCAGGCCACTGGAGACAAACGGTTTTGAATCTCATAAATGTAAACAGTAATAGAGCTACAAAATAAAGCATTTTTATAAAAAGTTCCATATTGCTTACTCCCACATTTACTAATGCCAATTTCTCCAACCCCTCAGACACCTTACTGCCTACTACACTCTCTGTTTTCACTAATACAAACATAAAATACTGGCTGCCAAATACATTCAAGATGGTACATTCATACAAACCCTCAACAAGTATGGGAACAGGTGCCAGGGAAGCTGTTCGGTGTGGGAGGCCGGCCAGTCAGCAGTCAGCGTGTCACGACCCCACCTGGCTCATGTTCACTCACACAGAGAAGAAACTGGAGGCAAAGATGTCTCAGGCATTCT
|
TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCACGCATGGTGCGCTCACACTGCAGCGGCACATGGACACTTACACGCTGCGGTACAGATAAGCTGACTTCTCAAACAACTCCAAAACTACGCAAGCTGTATTTTGTGGGAAACCACAACAAAAAATACTATTCTCACTCTCTACCTATTTTAAGACAGGAGATCTATTCTTTAGCCATCTTCATATTCCAAAAGAATGGCAAGTATTTCTTAAGCAGATCCACCACTCACAAAACCCTGAAATGGCCATCTTATAATAGGAGGCAACAGAATCACATTCTTGAACTCAATTAAAACACCAGATCTCATTTTGTATCGTGCTGCTAGTGTAAAATTTAAAAATAAAGATCATGGACCCTTTTCCTCTGCCTTATAGGAAGCAGCACTCATGCAAGTCTTTCCATGAGACTGATCAGGCCAAATTACCAGGCAAATATTTGCAGGTAGAATAGTAAAATCCACATTTTCTACTCTATGAACATCTTGAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGAAATTGGGCCACTTTTTATTGGAACTTCAGGAAAGAAATAATGTACACAGACTATAACCAGATGAACGTGCCTTGCCCTAAGACATAATGCAGGATGCTGCTTGACGCTTACCTATTCTGATAGCTGTAGTAGGCAGCATCGCGAGGAATGGTACACAGCTGCTTCCCATAGCAGCACAAAGTCTGTGGGGAAAACTCATACTGCAAAAATAAAGGAGAAATACTTTTATATAAAAATACATTCCATTTACTGTCTTATAATGTTCTAGTCTACTATAGAGACTAGTAAATTATTTCTGTTAGTATATTAGACAGTTTTCTAACAATTTTAGTAGCTTTAAAGACATTTTGGGATAGCATGTGATAGAACTGGCTCTAAGAGACATTCACTACAGACAGGTACCACAGGCAGAGAGGGGCAGCCAGAAACGCTTCCCCATGGCCTCCCTCAGTAAGCGCCTGTACACCCAGCTCTGATCACCCATCACATCGCTTCAGGCATCAACTGTGTCACCAGACAGCAGATTGCACATATGCACTCCCAGTATACAGGCGTGGTCTCATATTAGTATAACACCCCTCTGGCTGGATTAACCAGGAAAATTCACTTTCCGGAAAAACTTAAAACTGTACCTTGCGTCCACAGCAATATCCAAGGGACTGCATGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCAGGCATTGTTGAACATGAGCCAGACGTCGTCCACGTACTGCCAGGGCTCTTGGTATTGCCCTGTGTCCGGCTTCCGCTTGATGGTGGAGAGGTCCATGGGATTCTTTACGATGTCAAAATAGTCCTTAAAAAAAAAAAAATGGTCTCAGTATAGGGAATCCCCCAATATCCAAATGCCAGTCTCATCTGGCAGCTTTGTTTTAAAATAATAGAAACAGAAAGCACCAAAATAACTTCCATTCCCAACAGTAAGAAATAGGAAATGAAAAGAAAATAACCTCTGACGCAACTGATTTTACTCACTAAAAGTGTAATTAGTATTTTCAGGTATGATCACATTATAATACTCCAAAGGCAAAAGTAAAGAAAAATTGTTAAAAGATACTTCTAACAAAAAATTTTAAAAATAGATCTTTAATCCACTGAATTAAAATAGTGAACAAGTTTATCAAACAGTGTGTATTTCTAGATATTCACTCTTGATCCTAGCAAGCAAAATGAAATTACAAGACAAATATAAACACAAAGCTAGTAATGACTGCTACATAGAATCGGCTGGGTCCCCATGGCCTTTGCAAGGCTATCCAGGAATATAAAAGAGAGAAGCCCAAATATTTTTTTACAGTTCATGTTCACAAATTCTTTCAGACAAAAGTGACACAAGGCCCCAAATATAAAGTGAAGTCTCAGGGGCATGTGCTTCCCTTGCTTCAGTGCACCCCTCCTCCAAGGACCAGGGCTTCATGAACAGGTGAAATCAAACAAAATAAACACTTTCACTGATAACTGTTAACAGACAACAGTTTTTTATATTAGGAGAACAATCTTCAAGGCAGGGGGATTATTTTATCTAATTTCAAGAGATAAAACAATGGACACTCAGAAGTCACACCAGCAAAGTTATAATCTATTTTTATGAATTAACTTACTGGAATTCCGAGGAGCTGGGGATCTACAGGCTGCCGGAAAGGTAATGACTCTGGGTCCTGTCGATACAGTGCTTCTAGGGTTGGCATGAGGGCCTGGCGTAACTCCTCTGGTTTAAAGACTGCAGAGAAAACATCAAGAAAAGACACTTTGTAAAAGGTGCTCAGATCCCTCCTACCTCACATTTAAAACGGAATCCTGGCTGCTGTGACATCCCAGCCACGATGCTCCTAAGGCACTCGAGGGGCTCTCGTCCATCACCGTTAAGGACTAAAGCTTCTGAAAACACACTAGTGTCAGAACTGTGTTCAGCTTGTGAGGCAAAATACAACACTGGGAAGTTTGCTTCTTCCATGAAAGGTTTCCAACATTAAAAACTTGGCTGAAAAAGAAAGTAAAGCTAACTCCCAAATCTGTCTCATTCATCAAACTGGGTGGCAAATAAAGCCATTTCAGGCTGGGCATGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACTGAGGAGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTAGTGAAACCTCGTCTCTACTAAACACAAATTTAGCCTGGTGTGTGTCGGGGGTTCCTATAAGCCCCGCTACTCGAGAGGGTGAGAAAGGAAAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAGACCATTTCATTGGAAGGGACCTTAAAAGATCCTCTGAGTAAAGTTTTTTATCCTTGGCTAAATTAAATTCAGGCCACTGGAGACAAACGGTTTTGAATCTCATAAATGTAAACAGTAATAGAGCTACAAAATAAAGCATTTTTATAAAAAGTTCCATATTGCTTACTCCCACATTTACTAATGCCAATTTCTCCAACCCCTCAGACACCTTACTGCCTACTACACTCTCTGTTTTCACTAATACAAACATAAAATACTGGCTGCCAAATACATTCAAGATGGTACATTCATACAAACCCTCAACAAGTATGGGAACAGGTGCCAGGGAAGCTGTTCGGTGTGGGAGGCCGGCCAGTCAGCAGTCAGCGTGTCACGACCCCACCTGGCTCATGTTCACTCACACAGAGAAGAAACTGGAGGCAAAGATGTCTCAGGCATTCT
|
Task1_train_22295
|
This variant impacts the gene CREBBP (CREB binding protein) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
|
TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTCAAAGCTGAACTCGCCACGTATGACCTACGTCTCACAGAACTGAAGACTACTCAAACACAGCAAGATTAATGAAGCAACGGAGATCTGTTTTGCAGTACAACGGCATTTAAACTACTGTTTCCAAATTTCTCACTTCAATAAGTTCATTTTATAAGATTAACGTCAAACTCAACTTTTATCAGCTAAAAAGAAAAGCATTAGTGATTTTTATATACCATGAGCATCATTTACTCCTCCCCACTGTTTAACAAATTTTAACTAGATAAGAATCTCCTTATGATTGATCTTTAAAAATCGCTTTTCACTTCTACATTAATATTAAACGTCGCTTATCATAACTTGATTCCAGGAATTGTATTCAAACTTAAGCCACAAAATTCAGGTTTTGTTTCAACAGCAATAGCAGTTTTTTTTAATATGCTAGTGGTCGGTCACAGAACTATTTCCACAAGTTGAACAGCTGTGTCTAGTGCAAATCTGAAGGCAGCGATGTAATTCAATTTGGACTCATTCATTAGAAACTGATTTTCAGATGCTACCACTGCAAGACTACTGGAGAAATGCAAGCTGCGCTGGAGATGGAATTGTTCGCAGCGGCACACAAGTTTTTGCGGCAAAGGAGAGAGCTCTAAAAGAGGAAATACAACTAGTTCATGTTACCATGAACCAGCGCAGTGGGACCCAGAATTACTGAATTAATAGAAAACTAAATACTTCTCTTAAGCAGCTATGATAACTTAAGAAAGTTTCCAGGGAAGCCGTTTAATGAAAGGAAACAAACAAAAAGATGATTTATTCAGTATCCTGCTCCATTTTTTTGAAAAATTGGAATTCCTACATTCCTTAATTCTTTGTACATCTACACTGTGAAAGCAACACAAACTCAAATGGAGATTGCAGCCCAAATGAACTTAAACCTGCTGTTTAACTTTCTTTTGAAGTTATACATGGAAATGAAACACACCACAGCAACTTTCATGACATCTTGCTAACGAAGTTTGGGTTTTGAAAAATGGAATGACTAGTTGACTAAAAACACACACGCGCGCACACACACACACACACACACACACACAAAACAAGGAGTTTTGAAAATAAGCACTAAGCATCTTTCCAAGGAACTCACTCATTCCAAGAAACTTCGGTTCTAACTCGCAAGCTGGCGGCTGCTGTGAGTGTCCTCTGAATGCAGCCTGGTCAATGTGTCGCCAATCCAGAAAACACACTGCCCTACCTTTGGCCGCGATCTTGCTTTCTCTAAGCATCAAAGGTACCCTCCGCTGTCATTCCTCTGGACGGCCACGCGTGTGGACACGGCCGCGGATGGATGCGTAGGACATTACCAAACAAACCCACACGCTGCACTTTACTTCTTCCCTCCTGGAGTGCCACTAGGGTCCCCGCGAGGAGGGCTGATCGGGTGCGGGGAGGCCGAGTGCACCGGGCGTGTGCTGACCAACTCGGGCCCAGTGACAGTCCTGCGACGAACTTCCACCCTCCCGCGCGGGGCGAGGGGAACGGGCTGCGGGGCCTGCTCCGAGCTCCCGGCTCGATCGGTATCCGCGACCACGACCCCCGGACGCTCTCTTTCAGGTGGGGGTGACAGCGCGCCCCGGGCCCCCGCCGCCCCGGACCCCCTCCTCACCTGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGCGCTCACCGCCCGCCCCCGGCCGCCGCCGCCGCCGCCGGCCGCGGCCCCCTCATCCCCTGCCCGCCTCCCGAGCGCGACACTCCGCGGTGGGGGCGCCCCGGCGGCCCGGCCGCCCCCCCGGGCCCGGCTGGCAGCGACGGCGCCCGGCCGGGCGGCTCAGGCAGTCCCCGAGAACATGGTGCCGCCGCCGCCGCCGCCTCGCTCCCCCCCCGCGCCCCACTTAATGAATTCGCTCGCGGCCCGACGACGAGGGGGCTCCGGGCTCCGCTCCCGGCCCGCGGCCCGCCGCCGCCGCCGCCGTGAGGAAAAACAATGCGCCGAGCGGGGTCGCCGCCGCCGCCGCGGCCCCCCCACCCCCCGTTCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGGGCTCCGGGAGGCCGAGCCGAGAGGCGAGCGGGGCCGCCGGGGCGGGCGCCGAGGGCCGGGCGGAGCGGGCCGGCCGGGCGGAGCGGGGTGCGCGGGCGGTTGTGGGGCCCGGGACCGGCGGGGCCGAGTAGATCGCGCTCGAAGCCCCGGTCGGGTCCGCGACAAGATGGCGGCTGTTGATTCCTCAATTAAAAAAAAAAGAAAGTTTTTTTTCTTCTCTTTCCAGAGCCTGAACGGGGAGGGGGTGGGGGCGGGGCACGCCGGTGCGTCACCCCCCCGCGGCGTCACCACGCACGGCCCCCGCCCCGCCCCCTCCACCTGCGCCGGCCGTGGCGGAAAGAGCCGAGCGTGCTCGGGCCGAAGGGCTGAAGGCGCGGCCGCCAAGCGTAGGGAAGCTGGCGGCCCGGCGCGGGCCAGGCCTGCGGGGCGCCTGGGCTCCGGGCTGAGCCACAGCTTTTGTTCTGATGGCGACCAGGCGTAGAGGGCCGGGGCTCCGGGCCCCAGCGGGCTCCGGGAGCGGCGGCCTGGCCGCGGGCTGGGCTCTCGGGCGCGGATTCGACGCCAGCCCGGGCCCGCCCGTCCCGCTGGGGCGGCGCTGCGTGTTCCCAGCTCCTCGCGTCCCCTTCCCCAGACCCTCCTAGGTGGCGTCGGTCGGGAACGGTCGGGGCGACCCCAGCCCAGGCCGCGCCACTAGCCTTCGCCGCCGGCCAGGGAAGTGGAATGGCCTCTGCAGGTTACAGACCGCCCTTGGGTCCTGCCGACGAGGTGGGCGGATGGGGAAACTGAGGCGGGGGGCGAGCAACTGCTCCAAAGTGGTCGAGGCAGGAAGTGGCAGGGCCGGGATTCGGGTCCCGCCCTACCTCGTGACACTAGGGAGTGAGGGGGCCTCACGCCTGTTCGCATCCCAAGGCGGCAGGGCAGACACCCTCACCTGTGAGAGCGGGGTGGCGAGGGCCGGCCTGGGCGGAGAAGGGCCCGCGCATCGGGGCTTAAGCCTGGACGCTCAGGCCGCACTCCCCGCCCCAGGCAACTTGCCTGGCGCCTCGCAGGTGCCCCAGACAGGGGTGCGGGCCTGGGGAGTCCCCCACGCGAGACCACAGCCCGCGGGACACTTCTACGAATACCCGAGGTGTTCCCATCCCAGTTAGTTATCTGCCCCTCCAAACTTGCCCGGCTTCCTCATAAAGGTATCAGCAGCTCCACTGTTTCCTAAGCCAGAAACCCGTGAGTCAGCGCGGACTCCTCCCTCTCACCCGCCACGCGCCCCTCTACCCACGGTCTTTACCTGGGAGACTGCTCCTCCCGCACTGTCCCGGTGGCTATGGTGGCAGCTACTCACTTAAGTGTTCTTTGCTCTCCACGTTGCTCCCCACGCAGCACCAGAGTTAACATCCCGAAAAGAGAGGGAGAAAATCTGTTTAAAACAACTCCCTGGCCAG
|
TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTCAAAGCTGAACTCGCCACGTATGACCTACGTCTCACAGAACTGAAGACTACTCAAACACAGCAAGATTAATGAAGCAACGGAGATCTGTTTTGCAGTACAACGGCATTTAAACTACTGTTTCCAAATTTCTCACTTCAATAAGTTCATTTTATAAGATTAACGTCAAACTCAACTTTTATCAGCTAAAAAGAAAAGCATTAGTGATTTTTATATACCATGAGCATCATTTACTCCTCCCCACTGTTTAACAAATTTTAACTAGATAAGAATCTCCTTATGATTGATCTTTAAAAATCGCTTTTCACTTCTACATTAATATTAAACGTCGCTTATCATAACTTGATTCCAGGAATTGTATTCAAACTTAAGCCACAAAATTCAGGTTTTGTTTCAACAGCAATAGCAGTTTTTTTTAATATGCTAGTGGTCGGTCACAGAACTATTTCCACAAGTTGAACAGCTGTGTCTAGTGCAAATCTGAAGGCAGCGATGTAATTCAATTTGGACTCATTCATTAGAAACTGATTTTCAGATGCTACCACTGCAAGACTACTGGAGAAATGCAAGCTGCGCTGGAGATGGAATTGTTCGCAGCGGCACACAAGTTTTTGCGGCAAAGGAGAGAGCTCTAAAAGAGGAAATACAACTAGTTCATGTTACCATGAACCAGCGCAGTGGGACCCAGAATTACTGAATTAATAGAAAACTAAATACTTCTCTTAAGCAGCTATGATAACTTAAGAAAGTTTCCAGGGAAGCCGTTTAATGAAAGGAAACAAACAAAAAGATGATTTATTCAGTATCCTGCTCCATTTTTTTGAAAAATTGGAATTCCTACATTCCTTAATTCTTTGTACATCTACACTGTGAAAGCAACACAAACTCAAATGGAGATTGCAGCCCAAATGAACTTAAACCTGCTGTTTAACTTTCTTTTGAAGTTATACATGGAAATGAAACACACCACAGCAACTTTCATGACATCTTGCTAACGAAGTTTGGGTTTTGAAAAATGGAATGACTAGTTGACTAAAAACACACACGCGCGCACACACACACACACACACACACACACAAAACAAGGAGTTTTGAAAATAAGCACTAAGCATCTTTCCAAGGAACTCACTCATTCCAAGAAACTTCGGTTCTAACTCGCAAGCTGGCGGCTGCTGTGAGTGTCCTCTGAATGCAGCCTGGTCAATGTGTCGCCAATCCAGAAAACACACTGCCCTACCTTTGGCCGCGATCTTGCTTTCTCTAAGCATCAAAGGTACCCTCCGCTGTCATTCCTCTGGACGGCCACGCGTGTGGACACGGCCGCGGATGGATGCGTAGGACATTACCAAACAAACCCACACGCTGCACTTTACTTCTTCCCTCCTGGAGTGCCACTAGGGTCCCCGCGAGGAGGGCTGATCGGGTGCGGGGAGGCCGAGTGCACCGGGCGTGTGCTGACCAACTCGGGCCCAGTGACAGTCCTGCGACGAACTTCCACCCTCCCGCGCGGGGCGAGGGGAACGGGCTGCGGGGCCTGCTCCGAGCTCCCGGCTCGATCGGTATCCGCGACCACGACCCCCGGACGCTCTCTTTCAGGTGGGGGTGACAGCGCGCCCCGGGCCCCCGCCGCCCCGGACCCCCTCCTCACCTGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCTTTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGCGCTCACCGCCCGCCCCCGGCCGCCGCCGCCGCCGCCGGCCGCGGCCCCCTCATCCCCTGCCCGCCTCCCGAGCGCGACACTCCGCGGTGGGGGCGCCCCGGCGGCCCGGCCGCCCCCCCGGGCCCGGCTGGCAGCGACGGCGCCCGGCCGGGCGGCTCAGGCAGTCCCCGAGAACATGGTGCCGCCGCCGCCGCCGCCTCGCTCCCCCCCCGCGCCCCACTTAATGAATTCGCTCGCGGCCCGACGACGAGGGGGCTCCGGGCTCCGCTCCCGGCCCGCGGCCCGCCGCCGCCGCCGCCGTGAGGAAAAACAATGCGCCGAGCGGGGTCGCCGCCGCCGCCGCGGCCCCCCCACCCCCCGTTCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGGGCTCCGGGAGGCCGAGCCGAGAGGCGAGCGGGGCCGCCGGGGCGGGCGCCGAGGGCCGGGCGGAGCGGGCCGGCCGGGCGGAGCGGGGTGCGCGGGCGGTTGTGGGGCCCGGGACCGGCGGGGCCGAGTAGATCGCGCTCGAAGCCCCGGTCGGGTCCGCGACAAGATGGCGGCTGTTGATTCCTCAATTAAAAAAAAAAGAAAGTTTTTTTTCTTCTCTTTCCAGAGCCTGAACGGGGAGGGGGTGGGGGCGGGGCACGCCGGTGCGTCACCCCCCCGCGGCGTCACCACGCACGGCCCCCGCCCCGCCCCCTCCACCTGCGCCGGCCGTGGCGGAAAGAGCCGAGCGTGCTCGGGCCGAAGGGCTGAAGGCGCGGCCGCCAAGCGTAGGGAAGCTGGCGGCCCGGCGCGGGCCAGGCCTGCGGGGCGCCTGGGCTCCGGGCTGAGCCACAGCTTTTGTTCTGATGGCGACCAGGCGTAGAGGGCCGGGGCTCCGGGCCCCAGCGGGCTCCGGGAGCGGCGGCCTGGCCGCGGGCTGGGCTCTCGGGCGCGGATTCGACGCCAGCCCGGGCCCGCCCGTCCCGCTGGGGCGGCGCTGCGTGTTCCCAGCTCCTCGCGTCCCCTTCCCCAGACCCTCCTAGGTGGCGTCGGTCGGGAACGGTCGGGGCGACCCCAGCCCAGGCCGCGCCACTAGCCTTCGCCGCCGGCCAGGGAAGTGGAATGGCCTCTGCAGGTTACAGACCGCCCTTGGGTCCTGCCGACGAGGTGGGCGGATGGGGAAACTGAGGCGGGGGGCGAGCAACTGCTCCAAAGTGGTCGAGGCAGGAAGTGGCAGGGCCGGGATTCGGGTCCCGCCCTACCTCGTGACACTAGGGAGTGAGGGGGCCTCACGCCTGTTCGCATCCCAAGGCGGCAGGGCAGACACCCTCACCTGTGAGAGCGGGGTGGCGAGGGCCGGCCTGGGCGGAGAAGGGCCCGCGCATCGGGGCTTAAGCCTGGACGCTCAGGCCGCACTCCCCGCCCCAGGCAACTTGCCTGGCGCCTCGCAGGTGCCCCAGACAGGGGTGCGGGCCTGGGGAGTCCCCCACGCGAGACCACAGCCCGCGGGACACTTCTACGAATACCCGAGGTGTTCCCATCCCAGTTAGTTATCTGCCCCTCCAAACTTGCCCGGCTTCCTCATAAAGGTATCAGCAGCTCCACTGTTTCCTAAGCCAGAAACCCGTGAGTCAGCGCGGACTCCTCCCTCTCACCCGCCACGCGCCCCTCTACCCACGGTCTTTACCTGGGAGACTGCTCCTCCCGCACTGTCCCGGTGGCTATGGTGGCAGCTACTCACTTAAGTGTTCTTTGCTCTCCACGTTGCTCCCCACGCAGCACCAGAGTTAACATCCCGAAAAGAGAGGGAGAAAATCTGTTTAAAACAACTCCCTGGCCAG
|
Task1_train_22296
|
This sequence variant lies in GLIS2 (GLIS family zinc finger 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Nephronophthisis
|
AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACTGTGCCTCTCCCTCAGGCTTCCTGCTGAACTCCAAGTTCCCCGAGAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACCTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCCGAGCGCCAGGGCAACGGGGACCTGCCTCCAGTGCCCAGTGCCTCGGTAAGGAGGGGTGAGAGTTCCGGAGAGAGGGGTGGACTGGTTTCCTGGGGTTGCCATGACAAAGTACCCCAACACTGAGTGGTTTAAAAAACAGATGTGTTACCCCTCATAATTCTGGAGGCTGGAGTCTACCTGGAAGGCTCTAGGGGAGAACCTTCCCTGCCTCTCTCCTGCCTTCTGGCAGCTTCTGGAAATGCCTGGCACTCTAGCCTGGTAGCTGCTTCACTCCAGGCTCTGCCCTGTCTTCACACGGTCTTTGTCCCTCTGTGTCCGAATCTCTCTCTGGTTTCTCTTATAAAGACACCAGTCATGGCCGGGCACGGTGGCTCACACCTGTAACCCCAGCACTTTAGGAGGCTAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACTAGCCTGGGCAACATAGCAAGACCCCATCTCTATTTATTTTTTTGAGACAGAGTCTTGCTTCATTGCCCAGGCTGGAGGCCAGTGGCCCGGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCTGGGACTACAGGTACACACCATCACACCTGGCTACTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAACTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTAAACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGCAGACATGGGGTTTCACCATATTGGCCAGGCTGATCTTGAACTCCTGACGTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCTATATATTTTTTTTAATTAAGAAAATAAAAATTTAAAACACACCAGTCACTGGGTGTTGGGCCCACCCTAATCTAGTGTGACCTCATGTTAACTTGATTACATCTGCAAAGATCCTAGTTCCAAATAAGGCCACATGCACAGGTAGGGGCTGGGGAGAAGAGGACCTGAATGTCTCTGTTTGGGGACACCATTCAGTCCACTACCGATGGGACGGGGGGCTCTGGGCCAGCAGGACCTTGACTAGCCCTCCCCTCGCACCCCAGGACTTCCAGCCACTGCGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGGGCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCAGACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAGGTGAGTGGGGGCCAGCAAGAGTAGTGTGGAGTCTGGGGCAGGTCACCCCGCATGGGCTCAGAACACTTCCCATCCTCCGCAGTGTAACCAGCTCTTTGAGCTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCGGGGTACTGCTGCCACTGGGAGGGCTGCGCCCGCCATGGCCGAGGTTTCAACGCCAGGTGAGGTGGGGGAGAGAGGGGTAGAGGGAGGACTGGGGTCTCCAGTGAGCTGAGCCGTGCCCCCCGCCCTCCCTGGAGCAGGTACAAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGCAGCAAGAGCTTCTCCCGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAGGTAAGAGGCCGGGGCCGGGCGGCTTGGCCCATGAAGGGGGCGCTCAGCTGAGACCGGCTGGGCAGGTCCCCAGGGGGAGGGGACTGTTAAGTAAATCCCGGGCCTCAGAGATAAGGGTTGATGTCATCGCCCAGGGGTCCCTTTTCCAATGCAGTTTGCTAGGGGAAGCATCCCCTGGGGGTCAGACCCCCACCCAGCACCTGCTCTTGGAGCACCAATGCCATTTCCTGGTTCCCGTGGGTATCTTCTGACTAATGCCACCTCTGTGATCGCAGAGGCCAGGTCGGCTTCACTCCTCACTACAGCCCAGGCCCATACCAGGACAGCTCTGGTTGTCAGAGCCACAGACATAATTTTACATTTCCTAATCGCTGCATAAAACACAGCAAAAATAAATGGGTGAAATTAATTGTAATATGGTTCGTTGACCCCGGTACATCCAACGTGTTATCAATTCATTATTAAAGACAAATCAGTGAGATATTGAAGTTCTTCATTTCATGACAAAGCCTCAAGGAGCTGATGTGTATGTTTTTTCCTGGTGTTTATTTCACCCTGGCAGCACATCTCCAGGTGGAGAGCCATGTATCAGGAGGTCAGTCACTACATGTGGCCCCCTGCTCTGGCCAGGGCAGCAGAAGATGCCTGGTGAACCTTCAGCCATTTGTTGAGTGAGGGCAGTAGCGCCCAGGCAGCACTCCCTGTGGCCAGGCCCACGCTGGGCGCCTCGTGCCAGGATGTGATCTCCAAGGCCATGGTGTCTTTTTTTTCTTGAGACAGACTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAGTTTTCGTAGTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCCTGCTGGTCTGGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGGGCCCGGCCTCCAAGGCCATGTTCTGCTGCTGAAAGGCACATCCTCTGTAGCAGAGGGTGCAGGGCGAGGCTAGGCAGAGCTGGAGTCAACCAGGCTGAGTTTTCAGCCTCTGTGCCCTGCCTGGGGGCAGATCTCATGCCATGTGCTGGGGATGCCCCCTGCCCCCAGAATTGGGGCATCTATGTTCCCAGGGAGTGCTTGGCCCGGGGAAATGTTGAGTGCATGGGGTGAGACCCAGGAAGGGGAGAGACCCCTCATGGCGGCACTGCACTGCACCACCCTGCAGGTGAGAAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGCTTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGCCACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAGGCCCATGGCCACTTTGTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCCGCCCCCGACGGCGGCCCCTATGTCAGTGGGGCCCAGATCATCATCCCCAACCCAGCTGCCCTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGACCTCAGTGCCCTGGCCTGT
|
AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACTGTGCCTCTCCCTCAGGCTTCCTGCTGAACTCCAAGTTCCCCGAGAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACCTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCCGAGCGCCAGGGCAACGGGGACCTGCCTCCAGTGCCCAGTGCCTCGGTAAGGAGGGGTGAGAGTTCCGGAGAGAGGGGTGGACTGGTTTCCTGGGGTTGCCATGACAAAGTACCCCAACACTGAGTGGTTTAAAAAACAGATGTGTTACCCCTCATAATTCTGGAGGCTGGAGTCTACCTGGAAGGCTCTAGGGGAGAACCTTCCCTGCCTCTCTCCTGCCTTCTGGCAGCTTCTGGAAATGCCTGGCACTCTAGCCTGGTAGCTGCTTCACTCCAGGCTCTGCCCTGTCTTCACACGGTCTTTGTCCCTCTGTGTCCGAATCTCTCTCTGGTTTCTCTTATAAAGACACCAGTCATGGCCGGGCACGGTGGCTCACACCTGTAACCCCAGCACTTTAGGAGGCTAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACTAGCCTGGGCAACATAGCAAGACCCCATCTCTATTTATTTTTTTGAGACAGAGTCTTGCTTCATTGCCCAGGCTGGAGGCCAGTGGCCCGGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCTGGGACTACAGGTACACACCATCACACCTGGCTACTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAACTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTAAACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGCAGACATGGGGTTTCACCATATTGGCCAGGCTGATCTTGAACTCCTGACGTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCTATATATTTTTTTTAATTAAGAAAATAAAAATTTAAAACACACCAGTCACTGGGTGTTGGGCCCACCCTAATCTAGTGTGACCTCATGTTAACTTGATTACATCTGCAAAGATCCTAGTTCCAAATAAGGCCACATGCACAGGTAGGGGCTGGGGAGAAGAGGACCTGAATGTCTCTGTTTGGGGACACCATTCAGTCCACTACCGATGGGACGGGGGGCTCTGGGCCAGCAGGACCTTGACTAGCCCTCCCCTCGCACCCCAGGACTTCCAGCCACTGCGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGGGCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCAGACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAGGTGAGTGGGGGCCAGCAAGAGTAGTGTGGAGTCTGGGGCAGGTCACCCCGCATGGGCTCAGAACACTTCCCATCCTCCGCAGCGTAACCAGCTCTTTGAGCTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCGGGGTACTGCTGCCACTGGGAGGGCTGCGCCCGCCATGGCCGAGGTTTCAACGCCAGGTGAGGTGGGGGAGAGAGGGGTAGAGGGAGGACTGGGGTCTCCAGTGAGCTGAGCCGTGCCCCCCGCCCTCCCTGGAGCAGGTACAAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGCAGCAAGAGCTTCTCCCGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAGGTAAGAGGCCGGGGCCGGGCGGCTTGGCCCATGAAGGGGGCGCTCAGCTGAGACCGGCTGGGCAGGTCCCCAGGGGGAGGGGACTGTTAAGTAAATCCCGGGCCTCAGAGATAAGGGTTGATGTCATCGCCCAGGGGTCCCTTTTCCAATGCAGTTTGCTAGGGGAAGCATCCCCTGGGGGTCAGACCCCCACCCAGCACCTGCTCTTGGAGCACCAATGCCATTTCCTGGTTCCCGTGGGTATCTTCTGACTAATGCCACCTCTGTGATCGCAGAGGCCAGGTCGGCTTCACTCCTCACTACAGCCCAGGCCCATACCAGGACAGCTCTGGTTGTCAGAGCCACAGACATAATTTTACATTTCCTAATCGCTGCATAAAACACAGCAAAAATAAATGGGTGAAATTAATTGTAATATGGTTCGTTGACCCCGGTACATCCAACGTGTTATCAATTCATTATTAAAGACAAATCAGTGAGATATTGAAGTTCTTCATTTCATGACAAAGCCTCAAGGAGCTGATGTGTATGTTTTTTCCTGGTGTTTATTTCACCCTGGCAGCACATCTCCAGGTGGAGAGCCATGTATCAGGAGGTCAGTCACTACATGTGGCCCCCTGCTCTGGCCAGGGCAGCAGAAGATGCCTGGTGAACCTTCAGCCATTTGTTGAGTGAGGGCAGTAGCGCCCAGGCAGCACTCCCTGTGGCCAGGCCCACGCTGGGCGCCTCGTGCCAGGATGTGATCTCCAAGGCCATGGTGTCTTTTTTTTCTTGAGACAGACTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAGTTTTCGTAGTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCCTGCTGGTCTGGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGGGCCCGGCCTCCAAGGCCATGTTCTGCTGCTGAAAGGCACATCCTCTGTAGCAGAGGGTGCAGGGCGAGGCTAGGCAGAGCTGGAGTCAACCAGGCTGAGTTTTCAGCCTCTGTGCCCTGCCTGGGGGCAGATCTCATGCCATGTGCTGGGGATGCCCCCTGCCCCCAGAATTGGGGCATCTATGTTCCCAGGGAGTGCTTGGCCCGGGGAAATGTTGAGTGCATGGGGTGAGACCCAGGAAGGGGAGAGACCCCTCATGGCGGCACTGCACTGCACCACCCTGCAGGTGAGAAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGCTTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGCCACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAGGCCCATGGCCACTTTGTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCCGCCCCCGACGGCGGCCCCTATGTCAGTGGGGCCCAGATCATCATCCCCAACCCAGCTGCCCTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGACCTCAGTGCCCTGGCCTGT
|
Task1_train_22297
|
A mutation on Chromosome 16 affecting CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
|
CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCCTTAAGTCCCTGGCGGGGTCATGGGTTTGCGACTTGAGCAGAGCGGAGGAACAGGGCACTGGAAGGCCGACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTC
|
CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCCTTAAGTCCCTGGCGGGGTCATGGGTTTGCGACTTGAGCAGAGCGGAGGAACAGGGCACTGGAAGGCCGACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTCCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTC
|
Task1_train_22298
|
With a mutation on Chromosome 16 in gene CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
|
GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTCTTGCTAACCAGGTACCACTGAAGAATGCCCCGGTCTGGCATCACCCCCCACCATGGGAAGTGCCTCAGGCCACGCACACTTCAGAACCGCCAGGCCTGAGGTGCCCATGGCTACGGGGAAAATCTGACCTGGAGAGGAACTCCCAGCCCACAGGGGAGACGGACCCATGCTTACCTGCAAACTCCTGCCGCAAGGCCCGTGCAAAGGCCCTGCCCACCACCTGCACGCCCATCACAATGATCTGGGCCAGGTACTTGGCCTGTGGGCAAAGCAGGCACCCGGTTAGCAGGCCACTCCCTGTGGGCCCACAGAGATGGGCCCTGGAAACGGCTGCCGAGGGGCAAGGCTCCCGGAGACCCGAGGTCATGAAGCACAGAGCTGCAGCCC
|
GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCGGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTCTTGCTAACCAGGTACCACTGAAGAATGCCCCGGTCTGGCATCACCCCCCACCATGGGAAGTGCCTCAGGCCACGCACACTTCAGAACCGCCAGGCCTGAGGTGCCCATGGCTACGGGGAAAATCTGACCTGGAGAGGAACTCCCAGCCCACAGGGGAGACGGACCCATGCTTACCTGCAAACTCCTGCCGCAAGGCCCGTGCAAAGGCCCTGCCCACCACCTGCACGCCCATCACAATGATCTGGGCCAGGTACTTGGCCTGTGGGCAAAGCAGGCACCCGGTTAGCAGGCCACTCCCTGTGGGCCCACAGAGATGGGCCCTGGAAACGGCTGCCGAGGGGCAAGGCTCCCGGAGACCCGAGGTCATGAAGCACAGAGCTGCAGCCC
|
Task1_train_22299
|
With a mutation on Chromosome 16 in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; ALG1-congenital disorder of glycosylation
|
GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGTCACTGTGGAAATTTCCTTTCTAGCCATTGATACTTAAGCAAAATCATGATGGTGTTTACTTCCTTGTTTGTCCTTCCCCCTCTCTACCTTTTAAATGTTTTATTAAGTGTGATGTACACCCTGGAAAATGGGCAGGTAATCTGCTGCTTGAGGTACCGCCCCAAATGCAGCACACCCACATTACCAGCACCAGATCCAGAAGCAGAACCCACCAGCCCCTAACTTCTAACAGCGAGGACTGGTTTTTATTTACATAGACGGAACTCTACAATTCGTACTCGTCAGCATCTGGCTCCTTTATCAATGTTAGGATGAAATTTATCCAAATTCTTGTGTCACTATATTTTGAAATTATCTTTGAATCCTGAAGAGAGTTCTTAGATCCCAATACAGTAACAGCTTTACTTTAGTCGGGGAAATACACTGGTGTGTAGGGAATCTGGTGTATGTGCGTGTGTCCTACTACTACTAATTCTTGGCCCCGAGGGGCTCCTGGGGGTTCCCCGGGCCCCTGTTAGGGAACCGCGTCCACTTCTCGCCCTCTCGGCCCACTTCGGAGGCTCGGTCTGCGGCTGCGCACAGCGCGAGGAAGCGCGGTCACGTGACTGCTGCGGGCCAGCCAAGATGGCGGCCTCATGCTTGGTCCTGCTGGCGCTGTGTCTGCTGCTGCCGCTGCTGCTGCTGGGAGGATGGAAGCGCTGGCGCCGGGGGCGGGCGGCCCGGCATGTAGTAGCGGTGGTGCTGGGCGACGTGGGCCGCAGCCCCCGTATGCAGTACCACGCGCTGTCGTTGGCCATGCACGGCTTCTCGGTGACCCTCCTGGGGTTCTGCAGTGAGTGGCCAAGGGTCTGGGAGGGACGATGCTCTCTCAGCCGTTGATCCTCGGTTCTAACCGCCCCGGGGAGTCGAGGCGGAAGTGCTCCTTTAGTCGCCGCCTTTGGGCAGCTCTCCGAGATTAGACGAGCGGTTCTGCCCCAGCCTTTCCTGGGTGGGTCTCTAGGTATAGCCGGCGTTAATCTTGCCACGTGTCAGAAGTGTGTTAAGTGAATCCATTGCGTGGTCTCACGTAATTCTCCTAGTAAGTGGAACCCAGGTGCGTGGAACTCCAGGGCTAGTGCTGGTAGCTACGTCCCTGTGCAGCTACCCTTGTCAGGCTATGTCTGAGCTGACAGGATATTTCATTCCTCATCCCTCAACGCAGAGCTCTGCAGACAGATGTTTTCATTTGTTCTTCATGTCCAGCTTTTCCCCACAGTGTGCAGGGCAGCGGTGTCTGCTCCCTCATTATTCTCCACGTTGGTATCTTGAGAGGGTAGCTCAACCCCATCTCAGGAAGAAGTGGGAACAGCACTAGTTGCCTTTAATCCCTGTTTAGAATCTGCTATCCTAGGGTGATGGGGTAGAGTGGGACTTCCTAGGGATGGCTCTGTGGTGGGAAAATTCCACTATCCAGACAATCTAGATTAGTTTAATTGAGCACCTACTGTTTGCCAGGCATCATGTTAAGTGAAGGTAGGTAAGATTCAGGCCCTATCTCTGTGTGCCTCCTAGAGCAATCTGAACAAGAATTGGCCGCATTCTCTGTTCTGGCTAGTGAGGAGCAGAGAGAGGTTTTGAAATATCTTACTTTCCAAAACACTGTCCGTGATTCAGCCTGAGTTGGGAGATTATCTGACTTTAGATTGCTGCTTCTGGTACATTAAAGGGATCATTCTCATTTTTCAGACTCCAAACCCCATGATGAGCTCTTGCAGAACAACAGAATTCAGATTGTGGGGTTGACAGAACTTCAGAGTCTTGCAGGTAGGATGCCGTCAACTCCAGAATCCTCTGAATCCATGGGCTGGGGGCAGGGGGTGTTCGTTTGAAAAGCCGTGCAGATTGCCAGACGCTCCTTTGGTAGTCACAGGTGTTTTCTGACTTGCAGTTGGGCCCCGAGTTTTCCAGTACGGAGTCAAAGTTGTACTTCAGGCTATGTACTTGCTGTGGAAGTTGATGTGGAGGGAGCCAGGTGCCTATATCTTTCTCCAGGTGTGTATCAGCCTCTGCCTCCCTCTGTGAGAGCCATGTTAGCAGTTTACTTTCCAGCACAAATTGGTACTATATTGCATATTCATATGTGTGTGTGTTGTGTGTATGGGCGTTTAAAGACATGAGTAGGAGCCTATGGTATGTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTACGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTAATCCGCCCCCCTCGGCGTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCGCCTGGCCTATCGTTATACTTTTAATCCCTTCCCTTGATCACTTTTTCTTTAAAAAATTTTTCTTTCTTTTCTAGCTGAAGGAAGAATACTTTTTTTTTTAAATCAATTTTTAATATATAGAAGCACCTTCCTCTTTTATTTATTTATTTTTATTTTTCCTGAGATGGAGTCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCACCTTCTACCTCCCGTGTTCAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTAATTTTTTTTAGTAGAGATGGGGTTTCGCTATGCTGGCCAGGATGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGATTGCTGGGATTACAGGCATGAACCATCGTGACCCACACCTTCCTCTTTTAATAGGCAGCCTTGAATTCCAATATGTGATGTACTATACTGCATGTATTTAGTCTCATGTTAATGGATACTCAGATTCTTCCTGATTTTGTTTTTACTTTTACAAATAGTGTGGCTCCAAGCACAGCGAGCATATGCCTTTTGTATAAGTCCAGTTTCTTTCTTAGGGTAACTTCCCAGCAGTGGAATTGTGTAGTCAAAGTTGATGCATTTTAAAAATGTGTATGTTACTGGATAGCTTTAGAGTAAGGTTGGGTCAGTTTGGCCCCCGCTGAGTGGGGGTACCTCTTCTCCCCCATGCTTACCATCACCAGCTGTTGTTAGACCTTTTTAGAATTTGCATTCCAACAGGTGAAAAATGCCATCTCTTTGTTCTGTTTTTTGCCTCCTTGATTATTGATGATCTTGGACTTTTCAGGTTGGTTCTGTTTGTTTGTTTGGTTTTTGTTTGTTTGTTTTAGAGGCAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTTAACTGCAGCCTCATCCTCCTGGGCT
|
GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGTCACTGTGGAAATTTCCTTTCTAGCCATTGATACTTAAGCAAAATCATGATGGTGTTTACTTCCTTGTTTGTCCTTCCCCCTCTCTACCTTTTAAATGTTTTATTAAGTGTGATGTACACCCTGGAAAATGGGCAGGTAATCTGCTGCTTGAGGTACCGCCCCAAATGCAGCACACCCACATTACCAGCACCAGATCCAGAAGCAGAACCCACCAGCCCCTAACTTCTAACAGCGAGGACTGGTTTTTATTTACATAGACGGAACTCTACAATTCGTACTCGTCAGCATCTGGCTCCTTTATCAATGTTAGGATGAAATTTATCCAAATTCTTGTGTCACTATATTTTGAAATTATCTTTGAATCCTGAAGAGAGTTCTTAGATCCCAATACAGTAACAGCTTTACTTTAGTCGGGGAAATACACTGGTGTGTAGGGAATCTGGTGTATGTGCGTGTGTCCTACTACTACTAATTCTTGGCCCCGAGGGGCTCCTGGGGGTTCCCCGGGCCCCTGTTAGGGAACCGCGTCCACTTCTCGCCCTCTCGGCCCACTTCGGAGGCTCGGTCTGCGGCTGCGCACAGCGCGAGGAAGCGCGGTCACGTGACTGCTGCGGGCCAGCCAAGATGGCGGCCTCATGCTTGGTCCTGCTGGCGCTGTGTCTGCTGCTGCCGCTGCTGCTGCTGGGAGGATGGAAGCGCTGGCGCCGGGGGCGGGCGGCCCGGCATGTAGTAGCGGTGGTGCTGGGCGACGTGGGCCGCAGCCCCCGTATGCAGTACCACGCGCTGTCGTTGGCCATGCACGGCTTCTCGGTGACCCTCCTGGGGTTCTGCAGTGAGTGGCCAAGGGTCTGGGAGGGACGATGCTCTCTCAGCCGTTGATCCTCGGTTCTAACCGCCCCGGGGAGTCGAGGCGGAAGTGCTCCTTTAGTCGCCGCCTTTGGGCAGCTCTCCGAGATTAGACGAGCGGTTCTGCCCCAGCCTTTCCTGGGTGGGTCTCTAGGTATAGCCGGCGTTAATCTTGCCACGTGTCAGAAGTGTGTTAAGTGAATCCATTGCGTGGTCTCACGTAATTCTCCTAGTAAGTGGAACCCAGGTGCGTGGAACTCCAGGGCTAGTGCTGGTAGCTACGTCCCTGTGCAGCTACCCTTGTCAGGCTATGTCTGAGCTGACAGGATATTTCATTCCTCATCCCTCAACGCAGAGCTCTGCAGACAGATGTTTTCATTTGTTCTTCATGTCCAGCTTTTCCCCACAGTGTGCAGGGCAGCGGTGTCTGCTCCCTCATTATTCTCCACGTTGGTATCTTGAGAGGGTAGCTCAACCCCATCTCAGGAAGAAGTGGGAACAGCACTAGTTGCCTTTAATCCCTGTTTAGAATCTGCTATCCTAGGGTGATGGGGTAGAGTGGGACTTCCTAGGGATGGCTCTGTGGTGGGAAAATTCCACTATCCAGACAATCTAGATTAGTTTAATTGAGCACCTACTGTTTGCCAGGCATCATGTTAAGTGAAGGTAGGTAAGATTCAGGCCCTATCTCTGTGTGCCTCCTAGAGCAATCTGAACAAGAATTGGCCGCATTCTCTGTTCTGGCTAGTGAGGAGCAGAGAGAGGTTTTGAAATATCTTACTTTCCAAAACACTGTCCGTGATTCAGCCTGAGTTGGGAGATTATCTGACTTTAGATTGCTGCTTCTGGTACATTAAAGGGATCATTCTCATTTTTCAGACTTCAAACCCCATGATGAGCTCTTGCAGAACAACAGAATTCAGATTGTGGGGTTGACAGAACTTCAGAGTCTTGCAGGTAGGATGCCGTCAACTCCAGAATCCTCTGAATCCATGGGCTGGGGGCAGGGGGTGTTCGTTTGAAAAGCCGTGCAGATTGCCAGACGCTCCTTTGGTAGTCACAGGTGTTTTCTGACTTGCAGTTGGGCCCCGAGTTTTCCAGTACGGAGTCAAAGTTGTACTTCAGGCTATGTACTTGCTGTGGAAGTTGATGTGGAGGGAGCCAGGTGCCTATATCTTTCTCCAGGTGTGTATCAGCCTCTGCCTCCCTCTGTGAGAGCCATGTTAGCAGTTTACTTTCCAGCACAAATTGGTACTATATTGCATATTCATATGTGTGTGTGTTGTGTGTATGGGCGTTTAAAGACATGAGTAGGAGCCTATGGTATGTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTACGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTAATCCGCCCCCCTCGGCGTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCGCCTGGCCTATCGTTATACTTTTAATCCCTTCCCTTGATCACTTTTTCTTTAAAAAATTTTTCTTTCTTTTCTAGCTGAAGGAAGAATACTTTTTTTTTTAAATCAATTTTTAATATATAGAAGCACCTTCCTCTTTTATTTATTTATTTTTATTTTTCCTGAGATGGAGTCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCACCTTCTACCTCCCGTGTTCAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTAATTTTTTTTAGTAGAGATGGGGTTTCGCTATGCTGGCCAGGATGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGATTGCTGGGATTACAGGCATGAACCATCGTGACCCACACCTTCCTCTTTTAATAGGCAGCCTTGAATTCCAATATGTGATGTACTATACTGCATGTATTTAGTCTCATGTTAATGGATACTCAGATTCTTCCTGATTTTGTTTTTACTTTTACAAATAGTGTGGCTCCAAGCACAGCGAGCATATGCCTTTTGTATAAGTCCAGTTTCTTTCTTAGGGTAACTTCCCAGCAGTGGAATTGTGTAGTCAAAGTTGATGCATTTTAAAAATGTGTATGTTACTGGATAGCTTTAGAGTAAGGTTGGGTCAGTTTGGCCCCCGCTGAGTGGGGGTACCTCTTCTCCCCCATGCTTACCATCACCAGCTGTTGTTAGACCTTTTTAGAATTTGCATTCCAACAGGTGAAAAATGCCATCTCTTTGTTCTGTTTTTTGCCTCCTTGATTATTGATGATCTTGGACTTTTCAGGTTGGTTCTGTTTGTTTGTTTGGTTTTTGTTTGTTTGTTTTAGAGGCAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTTAACTGCAGCCTCATCCTCCTGGGCT
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.