Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_27300
A variant found in Chromosome 19 affects ERF (ETS2 repressor factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Chitayat syndrome
CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCA
CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCCCCCTCCCTCCCCCTACCACCACTTTGCCCAGAGCTTAGAAACCCACAGAGACAGGGAATAGCCCCTAGCCCTGGGCACCCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTACAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCA
Task1_train_27301
Given a variant located on Chromosome 19 and affecting ERF (ETS2 repressor factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; ERF-related disorder
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCACAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
Task1_train_27302
This genomic variant is located on Chromosome 19, within the ERF (ETS2 repressor factor) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; TWIST1-related craniosynostosis
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCACAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
Task1_train_27303
A sequence alteration has been identified in ERF (ETS2 repressor factor) on Chromosome 19. Is it disease-inducing or harmless?
Pathogenic; Craniosynostosis 4
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
CCACCCACCCCCACCATTTTTAAAAAAAAGAAATTAAAGTTTTATACAAAATGTGGGGAGGGAAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCACAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGC
Task1_train_27304
Gene ERF (ETS2 repressor factor), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; TWIST1-related craniosynostosis
AAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCCGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGCCCCAGCCTCCGTGTCCCGGTAACCAGGCAACGTGTGTGCAGCGACAGTCCTGGGAGCGGGGG
AAAAGGGAGGAGGCAGGGAAGAGACAAGAGAGCTGCCCTCACCTCCAGGGCATAGGGGGCTTAAGGCAGCAAAAGAAGCATGGGGGGTGCGGGGCACACAGGTCCCCTGCCCACAGCCCTCAGGAGTCTCGGTGCTCCAGGGAGAGCTGGGCCGTGGCATGCTGGAGGTCAGAGCTCACCCGCCTTGGGGTGAGGGGCCCCCCAGCCTCCCCAGGCCCCTCCCCACGCACCTTCTTGTCCTCACCCTCATCCTCAAAGCCCCCAGCGGGGCCCCCACCCCCTTCGAGGCGACAGTCTTCACTCCAGCGCCGCTTAAAGCGTAGCTTGAGGGGCATGCACTGGGATGCCCCGGGTGCCTCGCCGGGCTCAGGCTTAGGGGGTGCAGGTGGGGCACGGGGCGTCTTGAACACCTCCCCGTCTTCCTCATCCTCATCACTGATGTCAGTCACCTCTACCTCCTCCGACTCGCCTTCCGAGATGGGCTCCACCTTGATCTGTGGTGGCGGGGGCGGTGGGGCTAGCGCCCCTGCCCCCTCAGCCAGCCCGCCTGCACTGCCACCGCTCTTGTCAGCACCGGCTACGGCCTTCTCCCCAGCTGCCCGCTGCCGGCGTCCGAGTGGGGGCGGCTGGAGCTTAAACTTGAATGGGGAGGAAGAAGAAGAAGAGGATGACGAGGCCGAGGAGGGGACCGGTGGGGTCTCGGGTGCCATGGGCGGCAGCGGGCACTTGTCAGGGCGCTGGGGCTGGGGCACCACCAGCCCAGGGTAGTGCAGGAAGGCGCGGGGGCTGAGGTGGTAGTTGTAGACGCTTTGGGTGTGGGCCTGCAGGTACCGTTTCATGTCCTCAGGGCTGAAGGAGAAGTGGGAGCCTCCCCCTGAGCCGCTGGGCCCCCCGCCACCACTGGGGTACATCGGGCTCAGCGTGGGCGAGGGAGTGTAGGCCAGGTGGGTGGGCGTCATGGGCAGAGCCGGGGAGAGCTGAGGGGGCAGCAGGGATCCAGGACCGGCCAGAGGCGACACAGGGAAGGGGCTGAGGGGTTCAGGGCCACCCCGAGGCCGGGGATAGACTCGGAAGACACCAGGGTCATGGGGCAGGCGGGCCAGCGGGGGCCCTCGGAAGGCACCCAGATCCGGAGGGCCGGGTGGTCGGGCGCGGGGATCCTCTCCCAGCGGTTCCTCCAGCTCTGACGTGCCATCACTACAGTCACTGACTGAGCCTCGGCCCAGGCGGCGGGCCACCACAGCCGAGAAGAGGGAAGATGAAGATGAAGAGCAGGCTGGTGGTGAGCGGGGGTCCTCGGTGGGGGACAGCACCTCGGAGGGCGTTGAGGGAGGGAAGCGGAAGTGGCTACCACCCGACGGCACTGGCGGGGCACTCTGGGGCACTGCACCCCCTGGCAGAAGGGAGACAGTGTCAAGGCCCCTGGCCTAGCCTGAAGGGGCATGTAGACCCTCTCCACACCAACCATCCCTGGTACTCACCAGCCAACCCCACATCAATGAATGGGTAATTGACCAGCACCAGTTTGTTGAAATTGAACTTGTAGGTGAACCGTTTCCCCTTGGTCTTGTGCAGAATGCGCTTGTTATAGTAATAGCTGTGGGTACAGAAATGCCATTGGGAAGGTCAGGTACGTGGGACCCAGGTCTAGACTCCACACCTTAACACGCACTTAGGTGTGGTTCCCAAAGGCCAACTGAGGAACGTAGGCCACAAAAGACAAATCAAGTGCCCAGAGGGTGGGTACCAGCTCTCTCCTCACATCTAAGGCAGGACTAGAGGATCCACTGGTGACTGTAATCTCTCCTCAGGATACGTCTGTGTTACCAAGGGGCTCAGGGAAGGGCTGGGAGTGGCCCAAGGTCACACAGCTAGGATTTGGCAAAGCCAGGGGTCAGACCCAATGCTTGTTCCCACAGGCAAGGGGCTGTGCAACCCCGGGGGGGCACTCCACATGTGCTCAGGGGTCCCCAGCCCGTCCTCACCGCAGGGCCCGGCTCAGCTTGTCGTAATTCATCTGGGGCTTGCACTTGCGAACGCCCCACAGCTGGGCCACCTCATCAGGGTCTTTGATGACGAATTCCCCGTAGTCCCCCTGCCAGGCAATGACGCCCTGGTACTCCTCCTTCCGCAGCAGCTCCAGGATAAAGTGCCACAGCTGGATCTGCCTTGAGCCAGGGGACGACTCTGGCTTGTAGGCCCAATCCGGGAAGGCAAACCCTGGGGACGGGAGGCAGGGAGTGGCCTGGGGTCAGGCTGCCAAGTCCAGGGCTCTGGGTCCCATCCCAGGGTCCACCTCTGCCCTGCCTTCAACATGGGGAAATCTGTCTCACCTCAGCCAAGTCAAGATCTGATTTAAGAGAAGACAGTGCGTGTCTGTCTGTCTGCATGTGAGGGGCTAGACAGGAGCTGGGGGGGAGGGGAAGCTGGAGCCCGCTCCAGCGACACCGGGAGAAACAGGAAACCGTCGGCGGTGGGTCCCGGGGCCAGTGCCAGGGGGCCAGGCACCAAGCCAGGCTGGCGGGCAGGGCTGCCAGTGGGGGAGGGGCAGGAAGGGGCACACGTGGCCAGCCGGGTTGGGGTACAGCCCCCCAGCTTACCCCCACTCCCATTCAGAGCCAGTTGCACCACCCCAGCTCCTCGGATGTCCTCCTTAGAAACATGCACTGTCTCCTCCGAAGACCCAACAGAGCCCCTACTCCCAACCCCAAGACCTGAGAGGAAGATTTTTTTTTTTTTTCTTAAAAGGACCAGGAGGGGTGGGGTGACTCGGTTGCCGATGAGGTCAGCGCTTGCACACACAGAGGCTTCTGTCTTCCCTGGAGAGTGAAACCCAGACTGTCTGAGAGGCCCCCCAAGCCCTGGACCCTCTGAGCTACACTGCCCTCCCCAGACCCAGGCATCCAGGCCCCACCTGGCTGGAGGGCCCAGCCCAGGCCTGGAGCTTGAGCAGGCACCCTGGAGCTGTCACCCTCTTCCCACTTCTGCCTTCTCATCTTCAGCTCCTTCCCTGCCCACCTGCCTGCCCACCCCCAGCATTAACCTTGGGTAGAGGTTGGCGGTGGGCTGGCTGGTCTCTGGAGGGGGTGGGCAGCCTGGGGTGGGGGGTGGGGGGTGGGGGGACTGCGGTTGTTGTCATTTCCCAACAACAGGGGCCATCAATAATTCAGCACCAGGCAGCCGGTAATGGAGGGGTGGGAGGAGGGAAAGGGGAGGAAGGGAAGGAGTGGGGAGGCAGAGCAGGGTCCCTGGTGCCACTAGAGAGAGAAGGCCAAGGTGGCCAGCTAAAGATGGGCGGCTCCCAAATCCAGTCAGGCTGCAGGGGTCAATCCGCCTCCCTTGGCCCCAGCTCAAACAGGTACCAACAAGGCCTCCAGGCAACACATCCACCCTCAAAGACTCCACCCAAGTCTGGAATCCAACAAGGGATCCTTCCCCTTGGGAATCCAGGGAATCAGTAGTTCCTGCTCCCACAGGGACCACCCCCTCCAAATCCAGAGCTCACTGTAGGCCCCCAACTCCTGCCCAGACTGGGCTGCAGTACCACATAGCCCCCGGAGTCCCTGCCCCATTCAGATATATCCCAGCCTTCCACCAGCCCCTCAGGGTGCCAGGGATATGACCTCCAGCTGTTCACAGACCAGCACCAACAGCCCCTGTTCCATTTAAAAGTGACAGCCTTTGACAACCCCTTCCAGAGACCCCAGAGCACCATCGCTCTCTTGGGAATCTAGGTGTTCAACCCATTATCCTCACCCTTCTAGAGAATCCAGATCACAAGGTCTCCTGCAAGGCCCAGGGTCCTTTGGAACCCAGGTGACCCAGCCACCAGCTTCATGGACCCTCATATCCCCTCCAAAAAGCTCCCAGCCCCTCTCAGGGAACCAAGCTCCATGTTACTTCCACCTCAGCCCCAATCTGGCTCTAGACCTAGAAGGGGGGCCAAAGCCCCTGAGACATCAATCTGGGGGTGGGGGATGTACTGACTTCCACCCTCCCCCCAAAATTAAAGCCACCCTTCCCAGCCCACCCGCCCCAGCCTCCGTGTCCCGGTAACCAGGCAACGTGTGTGCAGCGACAGTCCTGGGAGCGGGGG
Task1_train_27305
A mutation found in ERF (ETS2 repressor factor) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
CACATGGAGAGAGGGGTTCAGGAGACTGCGAGACAGAGTGCAGAAGTGGCAGCAGTCAGACAGCAAGGGCTGGGATGGCGAGGTCCCAGAAGCACACCTGGGTCCCACAGAGGCGGGGTAGGGATTCTCCCAGACAGACTATGCAAGCCTGGGGGGACAAAACTCCTGGGCACCCCCCAACCTCACGTGACGGCCCAAACTTTTTTTAAGGGACTATGAGGGTCGGAAGGGAGGAGTGGTGGCAGAGGAAGAACACGCCGGCCTCCTGGGGGGCCCCACCACCTCCCCCACTCCAGGCGGCCCTCTATGGCGCCAGAGCCGGGAAGAAAACAGGAAGTGGGAAACAGCCACGGCAGAGAGAGGGACCGGGATGGAGAACTGGATGGAGGGGTGCGGAGCGGCAGGCCAGGAGGCAGACGGGAAAGATGCACCGATCGGAGGCCATTCCAGGCCTCCTTCCCCTCCCCTCCCCCAGCCGGAAAACCCACACACTGTCCCGCCCCCCGACAGGGTTGGGGAAGCGACCCGCGGATCCTATCAGGCCAAGGCCGGTAGCAGGGAGAGAAGATGAAGCGAGGTTGTCTGGGTGCCTCGGCCTCCTCCTTGGGCGAGGGTAGGCTCCTGCTGCCCCCAGGGCCCAGCCACCCGGGAGCGAGTGGAAGCCGGGGGAGTGTGTAGGACGCACGTGACTGACCCTACCGCACTCCGCACCCCGGCCCCACCCCCAGGGCCCCTCCTCGGTCCGGGTCCCAATCCCCTGGCGCCGGATCCCAGCTCGGAGCCCTTTAAGATTAAGCCGCCCCCACCCGCCGAGCAGGGGGATGGGGATGGGAATGGGGTGGGAATGGGGTGGGGATGGGGTGGGGTGGGTGGGCCGGTCGGGGCACACACCCGCACACAGGAGCCCGAGCCGCCGCCGCCGCCGCCGCCGCCGCCGGGGGAAGGAAACAAGTTTGAACAGCGGCGCCCGGCCCCCTTCCCCCTCCCCCGTCCCCGCCCCGGGCCGGATTCCGACGGGGTAGACGGGCAGGGGGCGGCTGGGACCCCTCCCCCTGCGCGCTCGGGCGCAAAGTCCAGCCCGCGCGAGCCCGGGGGCGGCGGGGGAGGGGAGGGGGAAAAGTCCGAGTGGGAGGGGGAGTTAATCCCGCTGCCCCCCGCCCGCCGACCGAGGGGGAGGGGAACCTTGGCCCCTTAAGGAGGAGCAAGTTGGCGGGGAAGAGAGGGGCGGAGGGAAGAGACGGCCCGCTGAAAGAGAAGAGGTGGATCCGGGAGGGGGGGCGAGGGGGGAGCCTCTGCGTCTCCCCCCACCTTCCCCACCCTCCTCAACCCCGGGCCACCGGTGGCGCGGGAGGAGGGTACCCAGGTCTCCCCGGAGCCACCTTAAAGCCGCGCGTTCTAAGGTCGGAAACAAAAAGTTCCTTTTTCGAACGTTCGGGCTGCGCTTTGGAACTTTGCGACTCGGCGAGGGCGGGGGAGCGAGGAGCCGACAGAGGCGGGCGGGGGAGGGGCGGCGCAGCCAGGACCCCGAGTCCCGGGCTCCCCACTCACGCCCTCCTCCTAGAGGCCATCCCGTATCCCCCGCTAACCTGGTGCAGGGCACGCGCCGCCGTGAAGGTCACCAGCAGGACCGCGCAGCGCAGAACCAGGGATAGCGGGCCCGGTGGACGAGCCCCCCCGCCCCGCACACGTCCCGGCCCCCAGAGTGCAACGTGACAAGAGCGGAGGGGAAGGACCCCGCCACCCCCGTGATCCCGGGAGTGGGGGAGAGCCCGGCCTGCGGGGTCCCGGTAGGGATACAGGACCAAGACCCGCAGCACCCACACCACTCCGCCCGGAGCCAGGAATCGGGGGTCCCAGGCAGCAACCCCGCTCGCGCCACGAGAAGCAACAGGTCTCCAGTGCTTGAGGGGTCCCCCAGAACTGGGGATCACTCGGGCTCCCCCGGACCCCTTCAGCCCCCCCAAAGTTTCTCCGTTCGGTTTCCCGGGGCAACAAGTCTCCCCCACACGTGCTGCCCCCGCCCCCACCTGTGTCCGCCGGGGTCTTCATGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCTCCCGGCGCCCTCGCTGCCCCGTCCCGTCCCGCGCCCGTCGGGCCGCCCTCGCCGCCTCACCCGGCCTCGCCTCTCAGAGCCTCTCCCCTCCCCGCCGCCGCCTCCCGGGTTAATATCGCACTCCGGGGCCGGGACGCCCACGCCCCCCGGCCGGCGACGTCACCGCCGCGTCGCCATGGAGACACTGCGCCCGCCCCCTCCCCGCGCACTCACACACACGCTCGTCGGCGCGCAGCCACTGAGGACCGGCCGGCTCTGGGCTTAAAGGGGCCGCGCGGCGGGGGAGGGAGGAAGGAGGGGGTGGGGGTGGGATGGGGTCCCGCGGGTCATGACCCTAGTCAGAGGCTCCGAGTCTGCAGCTAACTTAAGTCTTCGGCACTCGCTACCTGCTGCCCCTCCTCCTCTCCTGCCCACTGCGGGCTCCAGAGTTTCTTTTGGGAGCCTGTATGGGAAAACGGGGGGCCCTTCCGAGGAAGCGGGGGTCAGAAACTTTTGTGGGGAGGGGGCAGAATCTTCTCTGCAGAGGGGCGGGGTCAGGACCTTAGAAGATGATGAAGACCACAGCATTTCCCAGCTTGGTTTTACCCAACCCCCCAACCCTGAGCCTGAATGGGGGCAGCTGTCCAGGGGTGGGGTGGAATGGGTGGGATGCATTTCCCAGCATCGGAAATGGGGAGGCGGCTGTGCCCTCCGCTCCTGTGGGGATGGGGTCTTGGCTTCCCTGATAACCCCCGTCCAGCTGGGGAGGAAGTGACCAGAGAGAATGCATTTGGAAGCCCCCACCACCACCGTCCCCAGGCTGCAGCTGTCCCGGGGATAGGGCTGGCGCCGGAGGTCCCCCCACGTCCACTACTAGGACCGGGGGTTCCGGAGGCGGGGCCGGGATACGAGGGGGCGACCAAAGTCTGAACAAATGTGCTCCCAAGGGGCACTGAGGGTCGCCAGGAGAGAGGAAGACAGGGCTTAAGATCGAAAGCCAGAGCGTAGAGAAGTGTTAAGTCTCCGTTCTCTGCCTCAGCCGGGAGGGAAGGATGAAGCCTGAGGCTCTGGGAAACAGGAAATCACAGCGCAGATCTGATGGAGCCCAGGAGCCGGCAGCAGGGTAGAGGCCAAATAGAAGCAATATTCACAGGCATAGCCTGGAAACAGAGTCTCAAAAAAGACTCTGAGGTTCCGAAGGAGGGGCGTATGGGTGGCGGGCGGGAGTTGGGGGGGCTGGGTGGGGGACGAATCCAGAAGATGGGCGGGGAGACAGAAAAGTCACAGATAGGGAAGGCCTGCGGAGCTCAGGCTCCCGGTACCCAGGGCTTCAATCCCAGCCTCCTCGCTTGCGGGGTACCTAGTCCACCTTAGACAGGCTCCTCACCAGTGCCTAAAAAAAAAAGTCTCAGGCCTCCTCCTTGGGGAGACCAAGGGCTCCAGGGAAGCTTTCCCCCACAACCCCCGGGAATTATGTAACCTTGCCTACGGACAGTACAGCTCCCCCACGGATATTGTAACCCTCTGGGAGCGGTGTGGTCCAGCAATAATAATCATCTTCATTGTTCGAATAACAGCTCCCGAATTCCGAGTGTTCATGATGTGCCAGGCACCGGGCCAAGCATTGTCAGGGGCATCTTCTCATTTAATCCTCACAAAATCCCAACGAGGGGAATTACTGCTGTTATCCCCATTTACAGATAAAGAAAGTGATGCTCTCTGAGGGAAAATCAGTCCACTAAATCTTACAGCCAGGAAGTATTGGAACTAAGATTCGAACCCAGATCTAACCAATTCCAAACCACCACATTTACCCTTTACCATTATGCTTTATTACCTCTTTTACTACCCCCTCCAAAAAAAAAAAAATGCAGATTTTCAAAGATACTACATCAGGGCCCGGCGCAGTGGCGCACGCCTGTAAACCTAGCACTTTGGGAGCCGAGGCGGGAGATCACTTCAGGTCAGAAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAG
CACATGGAGAGAGGGGTTCAGGAGACTGCGAGACAGAGTGCAGAAGTGGCAGCAGTCAGACAGCAAGGGCTGGGATGGCGAGGTCCCAGAAGCACACCTGGGTCCCACAGAGGCGGGGTAGGGATTCTCCCAGACAGACTATGCAAGCCTGGGGGGACAAAACTCCTGGGCACCCCCCAACCTCACGTGACGGCCCAAACTTTTTTTAAGGGACTATGAGGGTCGGAAGGGAGGAGTGGTGGCAGAGGAAGAACACGCCGGCCTCCTGGGGGGCCCCACCACCTCCCCCACTCCAGGCGGCCCTCTATGGCGCCAGAGCCGGGAAGAAAACAGGAAGTGGGAAACAGCCACGGCAGAGAGAGGGACCGGGATGGAGAACTGGATGGAGGGGTGCGGAGCGGCAGGCCAGGAGGCAGACGGGAAAGATGCACCGATCGGAGGCCATTCCAGGCCTCCTTCCCCTCCCCTCCCCCAGCCGGAAAACCCACACACTGTCCCGCCCCCCGACAGGGTTGGGGAAGCGACCCGCGGATCCTATCAGGCCAAGGCCGGTAGCAGGGAGAGAAGATGAAGCGAGGTTGTCTGGGTGCCTCGGCCTCCTCCTTGGGCGAGGGTAGGCTCCTGCTGCCCCCAGGGCCCAGCCACCCGGGAGCGAGTGGAAGCCGGGGGAGTGTGTAGGACGCACGTGACTGACCCTACCGCACTCCGCACCCCGGCCCCACCCCCAGGGCCCCTCCTCGGTCCGGGTCCCAATCCCCTGGCGCCGGATCCCAGCTCGGAGCCCTTTAAGATTAAGCCGCCCCCACCCGCCGAGCAGGGGGATGGGGATGGGAATGGGGTGGGAATGGGGTGGGGATGGGGTGGGGTGGGTGGGCCGGTCGGGGCACACACCCGCACACAGGAGCCCGAGCCGCCGCCGCCGCCGCCGCCGCCGCCGGGGGAAGGAAACAAGTTTGAACAGCGGCGCCCGGCCCCCTTCCCCCTCCCCCGTCCCCGCCCCGGGCCGGATTCCGACGGGGTAGACGGGCAGGGGGCGGCTGGGACCCCTCCCCCTGCGCGCTCGGGCGCAAAGTCCAGCCCGCGCGAGCCCGGGGGCGGCGGGGGAGGGGAGGGGGAAAAGTCCGAGTGGGAGGGGGAGTTAATCCCGCTGCCCCCCGCCCGCCGACCGAGGGGGAGGGGAACCTTGGCCCCTTAAGGAGGAGCAAGTTGGCGGGGAAGAGAGGGGCGGAGGGAAGAGACGGCCCGCTGAAAGAGAAGAGGTGGATCCGGGAGGGGGGGCGAGGGGGGAGCCTCTGCGTCTCCCCCCACCTTCCCCACCCTCCTCAACCCCGGGCCACCGGTGGCGCGGGAGGAGGGTACCCAGGTCTCCCCGGAGCCACCTTAAAGCCGCGCGTTCTAAGGTCGGAAACAAAAAGTTCCTTTTTCGAACGTTCGGGCTGCGCTTTGGAACTTTGCGACTCGGCGAGGGCGGGGGAGCGAGGAGCCGACAGAGGCGGGCGGGGGAGGGGCGGCGCAGCCAGGACCCCGAGTCCCGGGCTCCCCACTCACGCCCTCCTCCTAGAGGCCATCCCGTATCCCCCGCTAACCTGGTGCAGGGCACGCGCCGCCGTGAAGGTCACCAGCAGGACCGCGCAGCGCAGAACCAGGGATAGCGGGCCCGGTGGACGAGCCCCCCCGCCCCGCACACGTCCCGGCCCCCAGAGTGCAACGTGACAAGAGCGGAGGGGAAGGACCCCGCCACCCCCGTGATCCCGGGAGTGGGGGAGAGCCCGGCCTGCGGGGTCCCGGTAGGGATACAGGACCAAGACCCGCAGCACCCACACCACTCCGCCCGGAGCCAGGAATCGGGGGTCCCAGGCAGCAACCCCGCTCGCGCCACGAGAAGCAACAGGTCTCCAGTGCTTGAGGGGTCCCCCAGAACTGGGGATCACTCGGGCTCCCCCGGACCCCTTCAGCCCCCCCAAAGTTTCTCCGTTCGGTTTCCCGGGGCAACAAGTCTCCCCCACACGTGCTGCCCCCGCCCCCACCTGTGTCCGCCGGGGTCTTCACGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCTCCCGGCGCCCTCGCTGCCCCGTCCCGTCCCGCGCCCGTCGGGCCGCCCTCGCCGCCTCACCCGGCCTCGCCTCTCAGAGCCTCTCCCCTCCCCGCCGCCGCCTCCCGGGTTAATATCGCACTCCGGGGCCGGGACGCCCACGCCCCCCGGCCGGCGACGTCACCGCCGCGTCGCCATGGAGACACTGCGCCCGCCCCCTCCCCGCGCACTCACACACACGCTCGTCGGCGCGCAGCCACTGAGGACCGGCCGGCTCTGGGCTTAAAGGGGCCGCGCGGCGGGGGAGGGAGGAAGGAGGGGGTGGGGGTGGGATGGGGTCCCGCGGGTCATGACCCTAGTCAGAGGCTCCGAGTCTGCAGCTAACTTAAGTCTTCGGCACTCGCTACCTGCTGCCCCTCCTCCTCTCCTGCCCACTGCGGGCTCCAGAGTTTCTTTTGGGAGCCTGTATGGGAAAACGGGGGGCCCTTCCGAGGAAGCGGGGGTCAGAAACTTTTGTGGGGAGGGGGCAGAATCTTCTCTGCAGAGGGGCGGGGTCAGGACCTTAGAAGATGATGAAGACCACAGCATTTCCCAGCTTGGTTTTACCCAACCCCCCAACCCTGAGCCTGAATGGGGGCAGCTGTCCAGGGGTGGGGTGGAATGGGTGGGATGCATTTCCCAGCATCGGAAATGGGGAGGCGGCTGTGCCCTCCGCTCCTGTGGGGATGGGGTCTTGGCTTCCCTGATAACCCCCGTCCAGCTGGGGAGGAAGTGACCAGAGAGAATGCATTTGGAAGCCCCCACCACCACCGTCCCCAGGCTGCAGCTGTCCCGGGGATAGGGCTGGCGCCGGAGGTCCCCCCACGTCCACTACTAGGACCGGGGGTTCCGGAGGCGGGGCCGGGATACGAGGGGGCGACCAAAGTCTGAACAAATGTGCTCCCAAGGGGCACTGAGGGTCGCCAGGAGAGAGGAAGACAGGGCTTAAGATCGAAAGCCAGAGCGTAGAGAAGTGTTAAGTCTCCGTTCTCTGCCTCAGCCGGGAGGGAAGGATGAAGCCTGAGGCTCTGGGAAACAGGAAATCACAGCGCAGATCTGATGGAGCCCAGGAGCCGGCAGCAGGGTAGAGGCCAAATAGAAGCAATATTCACAGGCATAGCCTGGAAACAGAGTCTCAAAAAAGACTCTGAGGTTCCGAAGGAGGGGCGTATGGGTGGCGGGCGGGAGTTGGGGGGGCTGGGTGGGGGACGAATCCAGAAGATGGGCGGGGAGACAGAAAAGTCACAGATAGGGAAGGCCTGCGGAGCTCAGGCTCCCGGTACCCAGGGCTTCAATCCCAGCCTCCTCGCTTGCGGGGTACCTAGTCCACCTTAGACAGGCTCCTCACCAGTGCCTAAAAAAAAAAGTCTCAGGCCTCCTCCTTGGGGAGACCAAGGGCTCCAGGGAAGCTTTCCCCCACAACCCCCGGGAATTATGTAACCTTGCCTACGGACAGTACAGCTCCCCCACGGATATTGTAACCCTCTGGGAGCGGTGTGGTCCAGCAATAATAATCATCTTCATTGTTCGAATAACAGCTCCCGAATTCCGAGTGTTCATGATGTGCCAGGCACCGGGCCAAGCATTGTCAGGGGCATCTTCTCATTTAATCCTCACAAAATCCCAACGAGGGGAATTACTGCTGTTATCCCCATTTACAGATAAAGAAAGTGATGCTCTCTGAGGGAAAATCAGTCCACTAAATCTTACAGCCAGGAAGTATTGGAACTAAGATTCGAACCCAGATCTAACCAATTCCAAACCACCACATTTACCCTTTACCATTATGCTTTATTACCTCTTTTACTACCCCCTCCAAAAAAAAAAAAATGCAGATTTTCAAAGATACTACATCAGGGCCCGGCGCAGTGGCGCACGCCTGTAAACCTAGCACTTTGGGAGCCGAGGCGGGAGATCACTTCAGGTCAGAAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAG
Task1_train_27306
The gene CIC (capicua transcriptional repressor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Intellectual disability, autosomal dominant 45
GTCACCTCAGGTCAGGTTGATCCGGATCAAGGGAAGGCCTGGAATGATGGAGAGCAGGGCTAGGGCGGTTCCCTCCTCCCTTCTTCATCTTCCCCGAGCAGGGGCCTCTCTCCTCTGCTGGTTCCACTTCCCCCAGGGAGCCAGGCAGTGTGAGGGGAAGCCCACTGGTATCCTAGGCCCGCCCCAAAAGTCCAGCCAGGGGTAGGTCCCAGCCTAGGGCTTGCTCTTCCACCACCCACCTCTTGGGGCTGAAGGTTGGACCCCTGGGACCAGCCTCTTGGTGAGGAAGCATCTTCCTGTGCATATCCTCAAGGAAACACCTGGCACTTGTGCCCTCTCTGGGTAGAGACTTGTTACAATTCTCTCTTCTGGCCCATTGTCCGTGGTTTTTCTTCCAAGGAGTTTACCACACCCTCCCCTGTTTTGGGCAAGGGGGCTGGACCCTGGACTACAGATAAGCCGAGGGGCTGATGGGGAAGGGAGGCTGGGAGGCCGATTTCTGGATGGTGCATTGTCTTTGTGGGGGCAAAGGAGAGAGCTGCTGGAGCCACCTGTGCCCAGCCAGGAAGGGCAGGTCTGGCACTCTGTGTTTGTGGTGGGGGAGGAAGGCAAGGAGCAGGACCTCTCCCACACCACAGTTGTAAGAGACCCCACAGCCTGTGCATAGTGAACGGAGAGTTGGAGGGGAGGGGACGTGGGGCCGTATGCCTCAGGAAAGGGAAAGAGAGCATGAGGCCAAGGTGAGACGCTGTGTTGGGCGGCGACTGGGCTGCTGGGAATGTGGCATGACGGGGGTGGGGGTCCCAGCCCGTAGAGGTCTGGGGCCTTGGGAGTGTGGGATGGCAGCCAAGCATGACCTGGTTTGTGGCAGGAGCAAATCGTTCCTCTGGCCTGGTCCCTGGTGGCAGGGCTGGTGGAGATTGGTGGGGGGAGGAGTGGGGCGTGAGTACTATTTCCCTTCCCTGCTTCTGTTTTCTTTTTTATAAATCTAGAAACCTTTCAGGGAGGAGTTTTTCCTGAGTGACGTTGCATGGACGAGTCCAAGAGGCTCTGGTGTTGGGGGTGGGGGGTAGACAAAAGGGGTGGGGCTACCTCATCTAGGGTGGGGAAGAGCTTGAGTTGGGGTTGGGGCCAGGCTCTCCTGCTGCACAGCTCACCTGGCTCCTTTCCACAGTGTGGACGAATGTGGAACCTCGCTCTGTGGCTGTGTTCCCTTGGCACTCCTTAGTCCCCTTCCTGGCACCCAGCCAGCCTGACCCCTCCGTGCAGCCGAGCGAGGCCCAGCAACCTGCCAGCCACCCAGTGGCCTCCAACCAGAGCAAAGGTGAGGGCTGGTGGGGACTGGGGGGAGGCAAGGGTGTGGGGTCCAGGTGGCCTAGGAGCCCTCTGATCTACCTCTGTGTCCCCAGAACCTGCTGAGTCGGCAGCTGTTGCTCATGAACGGCCACCAGGTGGGACAGGGAGTGCTGACCCTGAGCGGCCCCCTGGAGCCACATGCCCTGAGAGCCCAGGACCCGGACCCCCACACCCTTTGGGGGTGGTGGAATCTGGTAAGGGTCCGCCTCCCACCACGGAGGAGGAGGCCTCCGGCCCCCCAGGAGAGCCCCGGCTGGACAGTGAGACAGAGAGTGACCATGATGATGCGTGAGTTCCCTGAGGCCTGGGACTTGGGGGTGGGATGGCCAGAGACATGGCCCTCACTGTCCCTGCTGCCCCGCCGCAGCTTCCTCTCCATCATGTCTCCTGAGATCCAGTTGCCTCTACCGCCCGGAAAACGTCGGACCCAGTCCCTCAGTGCCCTACCCAAGGAACGGGACTCATCTTCTGAGAAGGATGGACGCAGCCCCAACAAGGTACTTTATCCCTGCCTGTCCTGTGCTCACCCCGTGGCCACCCACACCTGTCTGCCAGGTCCTAACTGTCCCGCTCTGGGCTGTGTTTAATGCAGCGGGAGAAGGACCACATCCGGCGGCCCATGAATGCCTTCATGATCTTCAGCAAGCGGCACCGGGCCCTGGTCCACCAGCGTCATCCCAACCAGGACAACCGGACCGTCAGCAAGATCCTGGGCGAGTGGTGGTATGCCCTGGGGCCCAAGGAGAAGCAGAAGTACCACGACCTGGCCTTCCAGGTAACGCTGTTGCCTCTTGGCTCCTCCCAGCTTCTTCTGGTGGGGTGGGTGAGTGAAGGGTTGCCCTGCCCTCTCCTGCCAGGTGAAGGAGGCCCACTTCAAGGCCCACCCAGATTGGAAGTGGTGCAACAAGGACCGAAAGAAGTCCAGCTCAGAGGCCAAGCCCACGAGCCTGGGGCTGGCAGGAGGGCACAAGGAGACGCGGGAGCGGAGCATGTCGGAGACGGGCACTGCTGCTGCCCCTGGGGGTTAGTCAGCCCCTTGGCTCTCCCACCCTGCCACCTCCCTCCCCGAGAGCCACCAGCTACCCCCTTGCTTGCTCCTCCCCTGCCCCAGCAGCTCCTCTCTGCTCTATCGCTTTAATTTGGCGACCCTTATCCGTAAAGGAACCGGCAGTTGATTCATGTGACGGAGCCAGGGAGATCCACACAGATACTAAGATTCCCAAACAGCAATCTCGTTATCAACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAGGTTAGATGGATAGTTGCTATGGATATGCACTTCTATGAGAGTGGGGACACTAGTTACTTCCTCTTTGAGATGAGGGAACCGAGGCTCAGGCCAGCGGTTGGCTAGCCAGCACCACATGAACCTCTCTCCAGGCCTCCTTACTTTCAGGAGGGCTGCCCCCCAGGGAATGGGCCTGCTGCAACCCCAGAGGGCAGGAATCAGCAGGAATGAGATGCTGGACTGGTGGTGGGTGGTGGTTTTTTTTTTTCACCAAGTGGCCCAGAAATTCCAGCCTGCTTCTGCCTAGTACCTAGAAATATCTATGGGTTGTTGGGCCAGTCTAGGTGCTGGTGACAGGCTTACTGACTGTCATAGCGCCACTCTCTACTTTACAGTGTCCTCTGAGCTCCTGTCCGTTGCAGCCCAGACACTCCTGAGCTCAGACACCAAGGCTCCGGGGAGCAGCTCCTGTGGGGCAGAACGGCTACACACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCCTGGACGGCGGAGAAGTAGACAGTCAGGCGCTACAGGAACTGACGCAGGTCTAGGGTGCAGGCCCCCTAGTGGGGGTGGGCAGGGAACCTGTCCAGGGCAGCAGCCCCGCTGAACCCTCTCTGCCACCTATCCTGCAGATGGTGTCTGGCCCTGCATCGTACTCTGGCCCAAAGCCTTCTACCCAGTATGGAGCTCCAGGACCCTTTGCAGCCCCTGGTGAGGGAGGTGCCTTGGCGGCCACTGGGCGGCCCCCGCTGCTGCCCACCCGAGCTTCTCGTTCTCAGCGTGCGGCCAGTGAGGACATGACGAGTGATGAGGAGCGCATGGTCATCTGTGAGGAGGAAGGGGATGATGATGTCATTGGTGAGCATTGCAGGGCCCAGAATCTTGCCCAGGACCCAGCAGGCCAAGGCTCAGAGGGTGGGCAGAACTTGGATCCAGGCCCCTAGGCCCCTTTGTTTTCTTTTCCACTTGGTTTATGGTTGCATGTGGCCAGTTCAGGCCCTGCCGAGTAAATCCAGCCCTGCCCTCAGGAAGCCCCCAGCCCTGCAGGAAATCTGGAGGACAGGGGGCATGACCAGATCTTCAGGTGCAGTGTTAGGGGCTCTGTCCTGCAGGCTCATAGGCTCCTGCACTGGGCAGTGGGCAC
GTCACCTCAGGTCAGGTTGATCCGGATCAAGGGAAGGCCTGGAATGATGGAGAGCAGGGCTAGGGCGGTTCCCTCCTCCCTTCTTCATCTTCCCCGAGCAGGGGCCTCTCTCCTCTGCTGGTTCCACTTCCCCCAGGGAGCCAGGCAGTGTGAGGGGAAGCCCACTGGTATCCTAGGCCCGCCCCAAAAGTCCAGCCAGGGGTAGGTCCCAGCCTAGGGCTTGCTCTTCCACCACCCACCTCTTGGGGCTGAAGGTTGGACCCCTGGGACCAGCCTCTTGGTGAGGAAGCATCTTCCTGTGCATATCCTCAAGGAAACACCTGGCACTTGTGCCCTCTCTGGGTAGAGACTTGTTACAATTCTCTCTTCTGGCCCATTGTCCGTGGTTTTTCTTCCAAGGAGTTTACCACACCCTCCCCTGTTTTGGGCAAGGGGGCTGGACCCTGGACTACAGATAAGCCGAGGGGCTGATGGGGAAGGGAGGCTGGGAGGCCGATTTCTGGATGGTGCATTGTCTTTGTGGGGGCAAAGGAGAGAGCTGCTGGAGCCACCTGTGCCCAGCCAGGAAGGGCAGGTCTGGCACTCTGTGTTTGTGGTGGGGGAGGAAGGCAAGGAGCAGGACCTCTCCCACACCACAGTTGTAAGAGACCCCACAGCCTGTGCATAGTGAACGGAGAGTTGGAGGGGAGGGGACGTGGGGCCGTATGCCTCAGGAAAGGGAAAGAGAGCATGAGGCCAAGGTGAGACGCTGTGTTGGGCGGCGACTGGGCTGCTGGGAATGTGGCATGACGGGGGTGGGGGTCCCAGCCCGTAGAGGTCTGGGGCCTTGGGAGTGTGGGATGGCAGCCAAGCATGACCTGGTTTGTGGCAGGAGCAAATCGTTCCTCTGGCCTGGTCCCTGGTGGCAGGGCTGGTGGAGATTGGTGGGGGGAGGAGTGGGGCGTGAGTACTATTTCCCTTCCCTGCTTCTGTTTTCTTTTTTATAAATCTAGAAACCTTTCAGGGAGGAGTTTTTCCTGAGTGACGTTGCATGGACGAGTCCAAGAGGCTCTGGTGTTGGGGGTGGGGGGTAGACAAAAGGGGTGGGGCTACCTCATCTAGGGTGGGGAAGAGCTTGAGTTGGGGTTGGGGCCAGGCTCTCCTGCTGCACAGCTCACCTGGCTCCTTTCCACAGTGTGGACGAATGTGGAACCTCGCTCTGTGGCTGTGTTCCCTTGGCACTCCTTAGTCCCCTTCCTGGCACCCAGCCAGCCTGACCCCTCCGTGCAGCCGAGCGAGGCCCAGCAACCTGCCAGCCACCCAGTGGCCTCCAACCAGAGCAAAGGTGAGGGCTGGTGGGGACTGGGGGGAGGCAAGGGTGTGGGGTCCAGGTGGCCTAGGAGCCCTCTGATCTACCTCTGTGTCCCCAGAACCTGCTGAGTCGGCAGCTGTTGCTCATGAACGGCCACCAGGTGGGACAGGGAGTGCTGACCCTGAGCGGCCCCCTGGAGCCACATGCCCTGAGAGCCCAGGACCCGGACCCCCACACCCTTTGGGGGTGGTGGAATCTGGTAAGGGTCCGCCTCCCACCACGGAGGAGGAGGCCTCCGGCCCCCCAGGAGAGCCCCGGCTGGACAGTGAGACAGAGAGTGACCATGATGATGCGTGAGTTCCCTGAGGCCTGGGACTTGGGGGTGGGATGGCCAGAGACATGGCCCTCACTGTCCCTGCTGCCCCGCCGCAGCTTCCTCTCCATCATGTCTCCTGAGATCCAGTTGCCTCTACCGCCCGGAAAACGTCGGACCCAGTCCCTCAGTGCCCTACCCAAGGAACGGGACTCATCTTCTGAGAAGGATGGACGCAGCCCCAACAAGGTACTTTATCCCTGCCTGTCCTGTGCTCACCCCGTGGCCACCCACACCTGTCTGCCAGGTCCTAACTGTCCCGCTCTGGGCTGTGTTTAATGCAGCGGGAGAAGGACCACATCCGGCGGCCCATGAATGCCTTCATGATCTTCAGCAAGCGGCACCGGGCCCTGGTCCACCAGCGTCATCCCAACCAGGACAACCAGACCGTCAGCAAGATCCTGGGCGAGTGGTGGTATGCCCTGGGGCCCAAGGAGAAGCAGAAGTACCACGACCTGGCCTTCCAGGTAACGCTGTTGCCTCTTGGCTCCTCCCAGCTTCTTCTGGTGGGGTGGGTGAGTGAAGGGTTGCCCTGCCCTCTCCTGCCAGGTGAAGGAGGCCCACTTCAAGGCCCACCCAGATTGGAAGTGGTGCAACAAGGACCGAAAGAAGTCCAGCTCAGAGGCCAAGCCCACGAGCCTGGGGCTGGCAGGAGGGCACAAGGAGACGCGGGAGCGGAGCATGTCGGAGACGGGCACTGCTGCTGCCCCTGGGGGTTAGTCAGCCCCTTGGCTCTCCCACCCTGCCACCTCCCTCCCCGAGAGCCACCAGCTACCCCCTTGCTTGCTCCTCCCCTGCCCCAGCAGCTCCTCTCTGCTCTATCGCTTTAATTTGGCGACCCTTATCCGTAAAGGAACCGGCAGTTGATTCATGTGACGGAGCCAGGGAGATCCACACAGATACTAAGATTCCCAAACAGCAATCTCGTTATCAACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAGGTTAGATGGATAGTTGCTATGGATATGCACTTCTATGAGAGTGGGGACACTAGTTACTTCCTCTTTGAGATGAGGGAACCGAGGCTCAGGCCAGCGGTTGGCTAGCCAGCACCACATGAACCTCTCTCCAGGCCTCCTTACTTTCAGGAGGGCTGCCCCCCAGGGAATGGGCCTGCTGCAACCCCAGAGGGCAGGAATCAGCAGGAATGAGATGCTGGACTGGTGGTGGGTGGTGGTTTTTTTTTTTCACCAAGTGGCCCAGAAATTCCAGCCTGCTTCTGCCTAGTACCTAGAAATATCTATGGGTTGTTGGGCCAGTCTAGGTGCTGGTGACAGGCTTACTGACTGTCATAGCGCCACTCTCTACTTTACAGTGTCCTCTGAGCTCCTGTCCGTTGCAGCCCAGACACTCCTGAGCTCAGACACCAAGGCTCCGGGGAGCAGCTCCTGTGGGGCAGAACGGCTACACACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCCTGGACGGCGGAGAAGTAGACAGTCAGGCGCTACAGGAACTGACGCAGGTCTAGGGTGCAGGCCCCCTAGTGGGGGTGGGCAGGGAACCTGTCCAGGGCAGCAGCCCCGCTGAACCCTCTCTGCCACCTATCCTGCAGATGGTGTCTGGCCCTGCATCGTACTCTGGCCCAAAGCCTTCTACCCAGTATGGAGCTCCAGGACCCTTTGCAGCCCCTGGTGAGGGAGGTGCCTTGGCGGCCACTGGGCGGCCCCCGCTGCTGCCCACCCGAGCTTCTCGTTCTCAGCGTGCGGCCAGTGAGGACATGACGAGTGATGAGGAGCGCATGGTCATCTGTGAGGAGGAAGGGGATGATGATGTCATTGGTGAGCATTGCAGGGCCCAGAATCTTGCCCAGGACCCAGCAGGCCAAGGCTCAGAGGGTGGGCAGAACTTGGATCCAGGCCCCTAGGCCCCTTTGTTTTCTTTTCCACTTGGTTTATGGTTGCATGTGGCCAGTTCAGGCCCTGCCGAGTAAATCCAGCCCTGCCCTCAGGAAGCCCCCAGCCCTGCAGGAAATCTGGAGGACAGGGGGCATGACCAGATCTTCAGGTGCAGTGTTAGGGGCTCTGTCCTGCAGGCTCATAGGCTCCTGCACTGGGCAGTGGGCAC
Task1_train_27307
An alteration has been detected in CIC (capicua transcriptional repressor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Intellectual disability, autosomal dominant 45
ACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAGGTTAGATGGATAGTTGCTATGGATATGCACTTCTATGAGAGTGGGGACACTAGTTACTTCCTCTTTGAGATGAGGGAACCGAGGCTCAGGCCAGCGGTTGGCTAGCCAGCACCACATGAACCTCTCTCCAGGCCTCCTTACTTTCAGGAGGGCTGCCCCCCAGGGAATGGGCCTGCTGCAACCCCAGAGGGCAGGAATCAGCAGGAATGAGATGCTGGACTGGTGGTGGGTGGTGGTTTTTTTTTTTCACCAAGTGGCCCAGAAATTCCAGCCTGCTTCTGCCTAGTACCTAGAAATATCTATGGGTTGTTGGGCCAGTCTAGGTGCTGGTGACAGGCTTACTGACTGTCATAGCGCCACTCTCTACTTTACAGTGTCCTCTGAGCTCCTGTCCGTTGCAGCCCAGACACTCCTGAGCTCAGACACCAAGGCTCCGGGGAGCAGCTCCTGTGGGGCAGAACGGCTACACACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCCTGGACGGCGGAGAAGTAGACAGTCAGGCGCTACAGGAACTGACGCAGGTCTAGGGTGCAGGCCCCCTAGTGGGGGTGGGCAGGGAACCTGTCCAGGGCAGCAGCCCCGCTGAACCCTCTCTGCCACCTATCCTGCAGATGGTGTCTGGCCCTGCATCGTACTCTGGCCCAAAGCCTTCTACCCAGTATGGAGCTCCAGGACCCTTTGCAGCCCCTGGTGAGGGAGGTGCCTTGGCGGCCACTGGGCGGCCCCCGCTGCTGCCCACCCGAGCTTCTCGTTCTCAGCGTGCGGCCAGTGAGGACATGACGAGTGATGAGGAGCGCATGGTCATCTGTGAGGAGGAAGGGGATGATGATGTCATTGGTGAGCATTGCAGGGCCCAGAATCTTGCCCAGGACCCAGCAGGCCAAGGCTCAGAGGGTGGGCAGAACTTGGATCCAGGCCCCTAGGCCCCTTTGTTTTCTTTTCCACTTGGTTTATGGTTGCATGTGGCCAGTTCAGGCCCTGCCGAGTAAATCCAGCCCTGCCCTCAGGAAGCCCCCAGCCCTGCAGGAAATCTGGAGGACAGGGGGCATGACCAGATCTTCAGGTGCAGTGTTAGGGGCTCTGTCCTGCAGGCTCATAGGCTCCTGCACTGGGCAGTGGGCACTGGGCATGTGGGCACAGCCCTGGGCTGAGGAGTAGCCTTCCTGGACAGCACTCCCTGCCGGTTTGGAGCAGAGCTGAGATCCAGGCTCCAGACTGTTTCTCCTGGGTCCCCCTGCATCTAGCCCCCTCCCCATACTGTTCCCTCCACTCCCTCAGCTGACGATGGCTTCGGCACCACTGACATTGATCTCAAGTGCAAGGAGCGGGTGACCGACAGCGAGAGTGGGGACAGCTCTGGGGAGGACCCAGAGGGCAACAAGGTGAGGGCTTGGGTCACGGTGCTGTCCCATCACACTCCCTCCTAAGCCATGGGAATGTCTGTTTCTCCCGGGCTTGAGAGAGGGGGAGATTAAGGTCCAGAGAGGGCAAGCTGCTTGCCCCGTGGGGAGTTGGGTCATAGTCAGGATGAATTGAGGCCTTCAGCTGGCAGGGGTGCAGCCCTAGGCTGGCCTGGCTGACAGGCTGGATGGGCATGGCTAGGGGGCTGCTATCGAGGTGTCGGAGTGTCCTGACCTGGGGTGTCTCCCTTCCTTTCATGCAGGGCTTTGGTCGGAAGGTGTTTTCACCTGTGATCCGTTCCTCCTTTACCCACTGCCGCCCCCCACTGGACCCTGAGCCCCCAGGGCCCCCGGATCCTCCTGTAGCCTTTGGCAAAGGCTATGGTTCCGCCCCATCCTCCTCTGCGTCCTCGCCTGCTTCCTCCTCAGCCTCGGCAGCCACCTCCTTCTCACTGGGCTCAGGAACCTTCAAGGCCCAGGAGTCTGGTCAGGGCAGCACAGCGGGCCCCCTACGGCCCCCACCCCCTGGGGCTGGGGGTCCAGCGACACCTTCCAAGGCAACCCGGTTCCTCCCAATGGATCCTGCCACCTTCCGGCGCAAGAGACCCGAAAGTGTGGGTGGCCTGGAGCCACCAGGCCCCTCAGTCATCGCGGCCCCTCCCAGCGGAGGAGGAAACATCCTGCAGACACTGGTGCTGCCCCCAAACAAGGAGGAGCAAGAGGGCGGCGGAGCCAGAGTGCCCTCCGCCCCCGCCCCATCACTGGCCTATGGGGCCCCAGCAGCTCCCCTGTCCCGTCCTGCCGCCACCATGGTCACCAATGTGGTGCGGCCTGTCAGCAGCACTCCTGTGCCCATCGCCTCTAAGCCCTTCCCCACCTCTGGCCGGGCTGAGGCGTCTCCAAATGACACAGCAGGTGCCAGGACTGAAATGGGCACTGGGTCTCGGGTGCCTGGGGGCTCCCCGCTGGGTGTCAGCTTAGTGTATTCGGACAAGAAGTCGGCAGCAGCCACCTCACCAGCCCCACACTTGGTGGCTGGACCCCTGCTGGGCACTGTGGGGAAGGCGCCTGCCACTGTCACTAACCTACTGGTGGGCACCCCGGGGTATGGGGCCCCTGCGCCCCCTGCTGTCCAGTTCATTGCCCAGGGGGCCCCTGGTGGTGGGACCACTGCGGGCTCAGGAGCAGGTGCTGGGAGTGGCCCCAATGGGCCAGTACCCCTGGGCATCCTGCAACCAGGTGCCCTGGGCAAGGCTGGGGGAATCACCCAGGTACAGTACATCCTGCCCACGCTGCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGGGACCAAGGCAGCGGCTCCCAGCGGCCCTGCACCCACCACCAGCATCCGTTTCACCCTCCCACCGGGCACTTCCACCAACGGCAAAGTCCTGGCTGCCACTGCACCCACTCCTGGCATCCCCATCCTGCAGTCTGTACCCTCCGCCCCACCCCCCAAAGGTGAGACCTGGGCCGGGCAGCACTAGGGGAGGGGCCATAGTCCTGTTTGGCTCCCTTGTAACCTTTTCCTTTCTTGCCTCTTAACTTCCAGCCCAGTCAGTTTCTCCCGTGCAGGCCCCGCCCCCGGGTGGCTCAGCCCAGCTGCTGCCTGGGAAGGTCCTAGTGCCTCTGGCCGCCCCTAGCATGTCAGTGCGGGGTGGAGGGGCCGGCCAGCCACTGCCACTGGTGAGCCCGCCCTTCTCAGTACCTGTGCAGAATGGTGCCCAGCCCCCCAGCAAGGTGAGGGCCTGCCTTTCTCTCTACCTGCTGGATGTTGGCCCCTGTACCCCATCATTTCTTTGTCTTTTTTTTCAGTCTTTTCTCCTTCTCCATGTATCTGGTTCTCTGTCTTGCCATCTTCCGTGATGTCTCTGTGCATCCTGACTCTCTCAAGTCCTCAGTGTCTGTACCCTCCTCCTTCTCTGTGTCCCCACCTCTCACTGTCATCTTGCCCATCCTGTTCTCACCCCAAGTTCTGTGTTCCTTGCTTTTGCTTAGAGTCCCACTTGAGGTCTTGGTCTTCCCCTGCCCCAGTCTGGGGCCACAGCTCACCCTGGCCTATGGGTGCCCTTCTCCACAGATCATCCAGCTGACCCCGGTGCCTGTGAGCACACCCAGCGGCCTGGTGCCGCCCCTGAGCCCAGCCACACTCCCTGGACCCACCTCTCAGCCTCAGAAGGTCCTGTTGCCCTCCTCCACCAGGTAATTGCAGCTGAGCCCATACTCAGAGGCCAGGGAAGGGGTGGGGCGGGGCCGGCTTACCTCACTCCTCCCCATTTCCTCT
ACTGTTGTTTAACGAGTGTTTACTATGTGCCTGGCACTACAGGGAATATAAGCTGTAGTCTGCAAAACCCCATTCTATTTCTAGAAGAAGAAACTGAGGTTCAGAGAGGCAAAATCACTTGCTTAAAGTCATAAACAAGCAAATGACAGAGCCAGAATGTAAACCCCAGTTCGGCGGGCCCCCAGCACCATAGTTGGGGCCACTGCAGCTCGCAAACACCCCTGATGGGCTGCTTCCACTTATTGAGGTTGTCTGGTGTGCCTGGCGGTGTTCTGGGGCACATTTTTGGAGTGAGCCTATGGGTATGGCAGTTCTGTGAGGTTAGATGGATAGTTGCTATGGATATGCACTTCTATGAGAGTGGGGACACTAGTTACTTCCTCTTTGAGATGAGGGAACCGAGGCTCAGGCCAGCGGTTGGCTAGCCAGCACCACATGAACCTCTCTCCAGGCCTCCTTACTTTCAGGAGGGCTGCCCCCCAGGGAATGGGCCTGCTGCAACCCCAGAGGGCAGGAATCAGCAGGAATGAGATGCTGGACTGGTGGTGGGTGGTGGTTTTTTTTTTTCACCAAGTGGCCCAGAAATTCCAGCCTGCTTCTGCCTAGTACCTAGAAATATCTATGGGTTGTTGGGCCAGTCTAGGTGCTGGTGACAGGCTTACTGACTGTCATAGCGCCACTCTCTACTTTACAGTGTCCTCTGAGCTCCTGTCCGTTGCAGCCCAGACACTCCTGAGCTCAGACACCAAGGCTCCGGGGAGCAGCTCCTGTGGGGCAGAACGGCTACACACAGTTGGGGGACCTGGCTCAGCCCGGCCCCGAGCTTTCTCCCACAGCGGGGTACACAGCCTGGACGGCGGAGAAGTAGACAGTCAGGCGCTACAGGAACTGACGCAGGTCTAGGGTGCAGGCCCCCTAGTGGGGGTGGGCAGGGAACCTGTCCAGGGCAGCAGCCCCGCTGAACCCTCTCTGCCACCTATCCTGCAGATGGTGTCTGGCCCTGCATCGTACTCTGGCCCAAAGCCTTCTACCCAGTATGGAGCTCCAGGACCCTTTGCAGCCCCTGGTGAGGGAGGTGCCTTGGCGGCCACTGGGCGGCCCCCGCTGCTGCCCACCCGAGCTTCTCGTTCTCAGCGTGCGGCCAGTGAGGACATGACGAGTGATGAGGAGCGCATGGTCATCTGTGAGGAGGAAGGGGATGATGATGTCATTGGTGAGCATTGCAGGGCCCAGAATCTTGCCCAGGACCCAGCAGGCCAAGGCTCAGAGGGTGGGCAGAACTTGGATCCAGGCCCCTAGGCCCCTTTGTTTTCTTTTCCACTTGGTTTATGGTTGCATGTGGCCAGTTCAGGCCCTGCCGAGTAAATCCAGCCCTGCCCTCAGGAAGCCCCCAGCCCTGCAGGAAATCTGGAGGACAGGGGGCATGACCAGATCTTCAGGTGCAGTGTTAGGGGCTCTGTCCTGCAGGCTCATAGGCTCCTGCACTGGGCAGTGGGCACTGGGCATGTGGGCACAGCCCTGGGCTGAGGAGTAGCCTTCCTGGACAGCACTCCCTGCCGGTTTGGAGCAGAGCTGAGATCCAGGCTCCAGACTGTTTCTCCTGGGTCCCCCTGCATCTAGCCCCCTCCCCATACTGTTCCCTCCACTCCCTCAGCTGACGATGGCTTCGGCACCACTGACATTGATCTCAAGTGCAAGGAGCGGGTGACCGACAGCGAGAGTGGGGACAGCTCTGGGGAGGACCCAGAGGGCAACAAGGTGAGGGCTTGGGTCACGGTGCTGTCCCATCACACTCCCTCCTAAGCCATGGGAATGTCTGTTTCTCCCGGGCTTGAGAGAGGGGGAGATTAAGGTCCAGAGAGGGCAAGCTGCTTGCCCCGTGGGGAGTTGGGTCATAGTCAGGATGAATTGAGGCCTTCAGCTGGCAGGGGTGCAGCCCTAGGCTGGCCTGGCTGACAGGCTGGATGGGCATGGCTAGGGGGCTGCTATCGAGGTGTCGGAGTGTCCTGACCTGGGGTGTCTCCCTTCCTTTCATGCAGGGCTTTGGTTGGAAGGTGTTTTCACCTGTGATCCGTTCCTCCTTTACCCACTGCCGCCCCCCACTGGACCCTGAGCCCCCAGGGCCCCCGGATCCTCCTGTAGCCTTTGGCAAAGGCTATGGTTCCGCCCCATCCTCCTCTGCGTCCTCGCCTGCTTCCTCCTCAGCCTCGGCAGCCACCTCCTTCTCACTGGGCTCAGGAACCTTCAAGGCCCAGGAGTCTGGTCAGGGCAGCACAGCGGGCCCCCTACGGCCCCCACCCCCTGGGGCTGGGGGTCCAGCGACACCTTCCAAGGCAACCCGGTTCCTCCCAATGGATCCTGCCACCTTCCGGCGCAAGAGACCCGAAAGTGTGGGTGGCCTGGAGCCACCAGGCCCCTCAGTCATCGCGGCCCCTCCCAGCGGAGGAGGAAACATCCTGCAGACACTGGTGCTGCCCCCAAACAAGGAGGAGCAAGAGGGCGGCGGAGCCAGAGTGCCCTCCGCCCCCGCCCCATCACTGGCCTATGGGGCCCCAGCAGCTCCCCTGTCCCGTCCTGCCGCCACCATGGTCACCAATGTGGTGCGGCCTGTCAGCAGCACTCCTGTGCCCATCGCCTCTAAGCCCTTCCCCACCTCTGGCCGGGCTGAGGCGTCTCCAAATGACACAGCAGGTGCCAGGACTGAAATGGGCACTGGGTCTCGGGTGCCTGGGGGCTCCCCGCTGGGTGTCAGCTTAGTGTATTCGGACAAGAAGTCGGCAGCAGCCACCTCACCAGCCCCACACTTGGTGGCTGGACCCCTGCTGGGCACTGTGGGGAAGGCGCCTGCCACTGTCACTAACCTACTGGTGGGCACCCCGGGGTATGGGGCCCCTGCGCCCCCTGCTGTCCAGTTCATTGCCCAGGGGGCCCCTGGTGGTGGGACCACTGCGGGCTCAGGAGCAGGTGCTGGGAGTGGCCCCAATGGGCCAGTACCCCTGGGCATCCTGCAACCAGGTGCCCTGGGCAAGGCTGGGGGAATCACCCAGGTACAGTACATCCTGCCCACGCTGCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGGGACCAAGGCAGCGGCTCCCAGCGGCCCTGCACCCACCACCAGCATCCGTTTCACCCTCCCACCGGGCACTTCCACCAACGGCAAAGTCCTGGCTGCCACTGCACCCACTCCTGGCATCCCCATCCTGCAGTCTGTACCCTCCGCCCCACCCCCCAAAGGTGAGACCTGGGCCGGGCAGCACTAGGGGAGGGGCCATAGTCCTGTTTGGCTCCCTTGTAACCTTTTCCTTTCTTGCCTCTTAACTTCCAGCCCAGTCAGTTTCTCCCGTGCAGGCCCCGCCCCCGGGTGGCTCAGCCCAGCTGCTGCCTGGGAAGGTCCTAGTGCCTCTGGCCGCCCCTAGCATGTCAGTGCGGGGTGGAGGGGCCGGCCAGCCACTGCCACTGGTGAGCCCGCCCTTCTCAGTACCTGTGCAGAATGGTGCCCAGCCCCCCAGCAAGGTGAGGGCCTGCCTTTCTCTCTACCTGCTGGATGTTGGCCCCTGTACCCCATCATTTCTTTGTCTTTTTTTTCAGTCTTTTCTCCTTCTCCATGTATCTGGTTCTCTGTCTTGCCATCTTCCGTGATGTCTCTGTGCATCCTGACTCTCTCAAGTCCTCAGTGTCTGTACCCTCCTCCTTCTCTGTGTCCCCACCTCTCACTGTCATCTTGCCCATCCTGTTCTCACCCCAAGTTCTGTGTTCCTTGCTTTTGCTTAGAGTCCCACTTGAGGTCTTGGTCTTCCCCTGCCCCAGTCTGGGGCCACAGCTCACCCTGGCCTATGGGTGCCCTTCTCCACAGATCATCCAGCTGACCCCGGTGCCTGTGAGCACACCCAGCGGCCTGGTGCCGCCCCTGAGCCCAGCCACACTCCCTGGACCCACCTCTCAGCCTCAGAAGGTCCTGTTGCCCTCCTCCACCAGGTAATTGCAGCTGAGCCCATACTCAGAGGCCAGGGAAGGGGTGGGGCGGGGCCGGCTTACCTCACTCCTCCCCATTTCCTCT
Task1_train_27308
This variant affects the gene MEGF8 (multiple EGF like domains 8) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; MEGF8-related Carpenter syndrome
CTTGTAACCATCACAATAAGCAGAGGTGAGACTCTGGATGGGGACAGAGGGGAACTATGCCGCTCCAAGGTTAGGCCTCTGTTCTGGGGGAAGAAGCTGGACTCTTCTCTTGCAGCTCTATTCAGCGTGGGCCAGGGGTGGTGTCACGGAGGTGCTCTTCTCACTGGGATTATGACCTTGACCCTCCAGCCTGGACATGTCTGAAACTCAGGCATGGACAGGAAGAGAGAGGCATCAGGAACACTGGATTCTGCTCTGTGTGGCCACTGGGATGGGGTTTTCTCTGTACTTAATTTTCCCATCTGAATGGTGGGAGTGTTCATTCTGATCTCAGGTGACCTTTCTAGAGGTCTGGAATATTATGATTCTTTCTCTGGGCTCCTGTCCCTCTGGCTGTCACAGCCCTTGACTGCCCTAGGTTATGAGACTGGGGGCCCCTTCAAGGCGGGGCCCAGGTCTGACTCATTCTTGAGCCCCCAGCATCACCTGGATCAGGGTTTGGTGTACAATTGTGGGAGGCTGCAGGGAGGTGTGGGGAGAAGGTCCGCTTTAGAGCTTGGTCCCTCTGTGCTCACCTCCCAGCCCCAAGCCCCCAGCACCGGATCCTGCTGGACTTCCTTTTCCTGGACACAGAGTGCACGTATGACTACCTGTTCGTGTATGACGGTGACTCCCCGCGAGGGCCGCTGCTTGCCAGTCTAAGTGGGAGCACCCGACCTCCGCCCATCGAAGCTTCCTCAGGCAAGGTTAGTGGGGATGGGGCCGTGGCAGATACACCGAGGGAAATGGAAGAAGAAAGGAGGGACAGAGAGTCAGTAAGAGGGCATCCAAGAGCAGAGCACAGGGACAAGGGAAGGTGGAGAGAGGCAAAGGAAGGAGATGAGGCTCTGGGTCCCCCAGGGTGGAAGGGGGCAGGAGTGGGCCACCCTCCCAGGACAATCCCCAGGCCCTGCCCACCTTACCCAGCACACCTTGTGCCCGCAGATGCTGCTGCACCTCTTCAGTGATGCCAACTACAACCTGCTGGGCTTTAACGCCTCATTCCGCTTCTCCCTGTGCCCGGGTGGCTGCCAGAGCCACGGGCAGTGCCAGCCACCGGGTGTGTGTGCCTGCGAGCCGGGCTGGGGGGGTCCTGACTGTGGCCTGCAGGAGTGCTCAGCCTACTGTGGCAGCCACGGCACCTGCGCCTCGGTGAGCCGGTCCCCAGCCCTGTTTCCCCTGGGGCCCTGATCTGTGAGCGCAGCCTCCACGCCCATCTCCTAGGTCTGACCTTGCTCCTGCATGAAACTCCCCCCACCACCCCACCCTCCTCCGTGACACCCACTTCCCTCTCCTTCCAGAGCTTGCCCCTCACCTGTTACTCCAACCCCACCCCACCTTCACCTGCAGGGCCTCCCCTGCTGAGGATATCCCACTCTCATCTATACCCCACTCTCATCTGTGAACACCACCCTCCTTCCTCCAGCCAGGCCCAAATCTGTCCTCCCATCCAGCCACTCTGTGTGGCCTTGGACCCCTGCCATGACTTCCAGCCTCGCACCACTGACCTTACGCCGAAGCTGTGTACATCCAGCTTTCAATCTGGATTGCGCTTTGAGCCCTCCCCGCCTTGACCTCCCCAGATCTGAGCTCTTTCAGTCCAGGCTGAATGTCAACTACGCTGTCTGTATTCTCCCAGCCTGCCGTCTTTCTGTCTTTTCTCCTTTTTCTCTGTGCATCTTTTCCTTTTTCTGTTGGTCTTCTTTTTTCCGTCTGTCTGCTTCCTTCTGATTGTTTCTCTTTGTCTCTTGTTTCTGTCTGACAGTTTGCCTTTCCCCTCTTCCTGTCTCTCTCTGTCTCCCTTTCTCTCTCTCTCTTTCCTTTTCCATCCTCTCCCTTCCTGTCTGTCTCTTTCTCTCTCCCTTTGTGCCCTGTCTGTCTCATTCTGCCTCTTTTCCTCTCTGTGTCTCCTTTGTCTCTCTGTCCTTGTCTCTCCCTCTCTTATCTCTGCCTTTATGTCTCCTTTCCCGCAGCCCCTGGGACCATGCCGCTGTGAGCCTGGCTTCTTGGGACGTGCCTGTGACCTGCACCTGTGGGAGAACCAGGGGGCTGGGTGGTGGCACAACGTGAGTGCCAGGGACCCTGCCTTCTCTGCCCGTATTGGGGCAGCTGGCGCCTTCCTGTCCCCACCAGGGCTGCTGGCAGTTTTCGGAGGTGAGCAGATGGGGCGAGTATCTGGGATCTGGAGGCCCGGCAGCCTATGGCCAGGGCATGAGACTATCCACCCCTCCACAGGCCAGGACCTCAACAATGCCCTGGGTGACCTCGTCCTATACAACTTCTCCGCCAACACCTGGGAGTCTTGGGACCTGAGTCCTGCCCCGGTATGGACCCCTCCTCTGCCCTGGAGGAGCCTTTCCACTCAATCAGACCCAGCCGGGGACCCCCGGAATGATCCCCTATCACCTAGTGCTCCCACAGTTCCTGCAGCTTGATATAGGAACCTACTTCTCCCTGTTTCTGCCTTTTCTCTCCGGTTTTCTTTTTTCTTCTTCCTCTTCCTTTATCTGCCTTTGTGCATCTTATTTTTCCATGTGTCTCCTGTTGCTCAATCTGTCTCTGTTTTCGTCTGTCTGACTTTTGGGCTTCTGTGTTCTCTGTTTCTGTGTCTCCATCTCTCTGGATCTGTTTCTCTCTGCCATTTGTCCCTTTAACTCTGTCTCCTTGCCTTTTCTCTCTCTTATTGTATTTCTCTGTTTCTATGAGTCTGTCTCTTCTTTTCTCTCTCTGCCGGTCTCTGCCTTTCTCTTTGTCTCTGTCTTTATCTCGCCTTCTCTCCATGTTTCTCTGGCTCTGCATCTCTCTGTCTAAGCCTGGCTCTGGCTCTCTTGCTGTGTCTCTACCTCTGTCTCTTTTCTCTTCCTCACAGGCTGCCCGTCACTCCCATGTGGCCGTGGCCTGGGCCGGCTCCCTGGTACTGATGGGTGGTGAGCTGGCTGACGGCTCGCTCACCAACGACGTGTGGGCCTTCAGTCCACTGGGCAGGGGCCACTGGGAGCTCCTGGCACCACCTGCCTCCAGCTCCTCGGGGCCCCCAGGCCTGGCAGGTCACGCGGCTGCCCTGGTGGATGATGTCTGGCTATATGTGTCTGGAGGCCGCACCCCGCACGACCTCTTCTCCTCTGGCCTCTTCCGTTTCCGCCTTGACAGCACCAGCGGGGGCTATTGGGAGCAGGTGATTCCGGCAGGCGGACGGCCCCCTGCTGCCACTGGCCACTCCATGGTGTTCCATGCCCCCTCCCGTGCCCTGCTGGTCCATGGTGGACACCGGCCCTCCACTGCCCGGTAAGTGACCTGTCCCATAACCCATGCTCCACAGGCCAGGCCCAGCTCAACACCATAGGCCTTTAGTCTTTAGAGGTCTTTGCCCACTGTCGGACTCCTGTGGTCTCTCAGTCACTCCTTCCTTCATGTATTTACTTATTCCTTCGTTCACTCATTCATTCATTCACCCACTCACACATTCTCTGATGTTTTATTCAATCTCTTGGTGAATTGCCTTCCACACACTCCCACCCATGTATCTATTCAACAGAGCCCTGCTTGGTGTCCAGCCCTTGCTAGCTTATGCAGGTAACTCAGAGATGACTCAGGGTCCTGCCCACAGGGAACTTCTAGTTTGGAGGGGACATAGAGTCAGTCATGGCCAGTCTCATCCCTGGGTGATCACATGGCTCCTAAGAGCCTGGAGGAGGGAGAGAGACGCTTCCTGCCCTGAGCCCCTGCCCTGCTTCTCCTTCGGTAGGTTCTCTGTGCGAGTGAACTCCACTGAGCTTTTCCACGTGGATCGGCATGTGTGGACGACGCTGAAGGGGCGGGATGGGCTTCAGGGCCCAAGGGAGCGAGCCTTCCACACAGCCAGTGTTCTGGGCAATTACATGGTGGTCTATGGTGAGGAGGCTCCCCAATCCTGCCTGCCTGCCTGCTGAGGGCCTGAGCCAACCCTGAGCTGAGGCTCCCTGCAGGGGAGTCCCCCCACCTCCCCTAGGCTTGCCAGCTATGCCCCTTTCCTCCATTCCCAGGGGGCAATGTGCACACCCATTACCAGGAGGAAAAG
CTTGTAACCATCACAATAAGCAGAGGTGAGACTCTGGATGGGGACAGAGGGGAACTATGCCGCTCCAAGGTTAGGCCTCTGTTCTGGGGGAAGAAGCTGGACTCTTCTCTTGCAGCTCTATTCAGCGTGGGCCAGGGGTGGTGTCACGGAGGTGCTCTTCTCACTGGGATTATGACCTTGACCCTCCAGCCTGGACATGTCTGAAACTCAGGCATGGACAGGAAGAGAGAGGCATCAGGAACACTGGATTCTGCTCTGTGTGGCCACTGGGATGGGGTTTTCTCTGTACTTAATTTTCCCATCTGAATGGTGGGAGTGTTCATTCTGATCTCAGGTGACCTTTCTAGAGGTCTGGAATATTATGATTCTTTCTCTGGGCTCCTGTCCCTCTGGCTGTCACAGCCCTTGACTGCCCTAGGTTATGAGACTGGGGGCCCCTTCAAGGCGGGGCCCAGGTCTGACTCATTCTTGAGCCCCCAGCATCACCTGGATCAGGGTTTGGTGTACAATTGTGGGAGGCTGCAGGGAGGTGTGGGGAGAAGGTCCGCTTTAGAGCTTGGTCCCTCTGTGCTCACCTCCCAGCCCCAAGCCCCCAGCACCGGATCCTGCTGGACTTCCTTTTCCTGGACACAGAGTGCACGTATGACTACCTGTTCGTGTATGACGGTGACTCCCCGCGAGGGCCGCTGCTTGCCAGTCTAAGTGGGAGCACCCGACCTCCGCCCATCGAAGCTTCCTCAGGCAAGGTTAGTGGGGATGGGGCCGTGGCAGATACACCGAGGGAAATGGAAGAAGAAAGGAGGGACAGAGAGTCAGTAAGAGGGCATCCAAGAGCAGAGCACAGGGACAAGGGAAGGTGGAGAGAGGCAAAGGAAGGAGATGAGGCTCTGGGTCCCCCAGGGTGGAAGGGGGCAGGAGTGGGCCACCCTCCCAGGACAATCCCCAGGCCCTGCCCACCTTACCCAGCACACCTTGTGCCCGCAGATGCTGCTGCACCTCTTCAGTGATGCCAACTACAACCTGCTGGGCTTTAACGCCTCATTCCGCTTCTCCCTGTGCCCGGGTGGCTGCCAGAGCCACGGGCAGTGCCAGCCACCGGGTGTGTGTGCCTGCGAGCCGGGCTGGGGGGGTCCTGACTGTGGCCTGCAGGAGTGCTCAGCCTACTGTGGCAGCCACGGCACCTGCGCCTCGGTGAGCCGGTCCCCAGCCCTGTTTCCCCTGGGGCCCTGATCTGTGAGCGCAGCCTCCACGCCCATCTCCTAGGTCTGACCTTGCTCCTGCATGAAACTCCCCCCACCACCCCACCCTCCTCCGTGACACCCACTTCCCTCTCCTTCCAGAGCTTGCCCCTCACCTGTTACTCCAACCCCACCCCACCTTCACCTGCAGGGCCTCCCCTGCTGAGGATATCCCACTCTCATCTATACCCCACTCTCATCTGTGAACACCACCCTCCTTCCTCCAGCCAGGCCCAAATCTGTCCTCCCATCCAGCCACTCTGTGTGGCCTTGGACCCCTGCCATGACTTCCAGCCTCGCACCACTGACCTTACGCCGAAGCTGTGTACATCCAGCTTTCAATCTGGATTGCGCTTTGAGCCCTCCCCGCCTTGACCTCCCCAGATCTGAGCTCTTTCAGTCCAGGCTGAATGTCAACTACGCTGTCTGTATTCTCCCAGCCTGCCGTCTTTCTGTCTTTTCTCCTTTTTCTCTGTGCATCTTTTCCTTTTTCTGTTGGTCTTCTTTTTTCCGTCTGTCTGCTTCCTTCTGATTGTTTCTCTTTGTCTCTTGTTTCTGTCTGACAGTTTGCCTTTCCCCTCTTCCTGTCTCTCTCTGTCTCCCTTTCTCTCTCTCTCTTTCCTTTTCCATCCTCTCCCTTCCTGTCTGTCTCTTTCTCTCTCCCTTTGTGCCCTGTCTGTCTCATTCTGCCTCTTTTCCTCTCTGTGTCTCCTTTGTCTCTCTGTCCTTGTCTCTCCCTCTCTTATCTCTGCCTTTATGTCTCCTTTCCCGCAGCCCCTGGGACCATGCCGCTGTGAGCCTGGCTTCTTGCGACGTGCCTGTGACCTGCACCTGTGGGAGAACCAGGGGGCTGGGTGGTGGCACAACGTGAGTGCCAGGGACCCTGCCTTCTCTGCCCGTATTGGGGCAGCTGGCGCCTTCCTGTCCCCACCAGGGCTGCTGGCAGTTTTCGGAGGTGAGCAGATGGGGCGAGTATCTGGGATCTGGAGGCCCGGCAGCCTATGGCCAGGGCATGAGACTATCCACCCCTCCACAGGCCAGGACCTCAACAATGCCCTGGGTGACCTCGTCCTATACAACTTCTCCGCCAACACCTGGGAGTCTTGGGACCTGAGTCCTGCCCCGGTATGGACCCCTCCTCTGCCCTGGAGGAGCCTTTCCACTCAATCAGACCCAGCCGGGGACCCCCGGAATGATCCCCTATCACCTAGTGCTCCCACAGTTCCTGCAGCTTGATATAGGAACCTACTTCTCCCTGTTTCTGCCTTTTCTCTCCGGTTTTCTTTTTTCTTCTTCCTCTTCCTTTATCTGCCTTTGTGCATCTTATTTTTCCATGTGTCTCCTGTTGCTCAATCTGTCTCTGTTTTCGTCTGTCTGACTTTTGGGCTTCTGTGTTCTCTGTTTCTGTGTCTCCATCTCTCTGGATCTGTTTCTCTCTGCCATTTGTCCCTTTAACTCTGTCTCCTTGCCTTTTCTCTCTCTTATTGTATTTCTCTGTTTCTATGAGTCTGTCTCTTCTTTTCTCTCTCTGCCGGTCTCTGCCTTTCTCTTTGTCTCTGTCTTTATCTCGCCTTCTCTCCATGTTTCTCTGGCTCTGCATCTCTCTGTCTAAGCCTGGCTCTGGCTCTCTTGCTGTGTCTCTACCTCTGTCTCTTTTCTCTTCCTCACAGGCTGCCCGTCACTCCCATGTGGCCGTGGCCTGGGCCGGCTCCCTGGTACTGATGGGTGGTGAGCTGGCTGACGGCTCGCTCACCAACGACGTGTGGGCCTTCAGTCCACTGGGCAGGGGCCACTGGGAGCTCCTGGCACCACCTGCCTCCAGCTCCTCGGGGCCCCCAGGCCTGGCAGGTCACGCGGCTGCCCTGGTGGATGATGTCTGGCTATATGTGTCTGGAGGCCGCACCCCGCACGACCTCTTCTCCTCTGGCCTCTTCCGTTTCCGCCTTGACAGCACCAGCGGGGGCTATTGGGAGCAGGTGATTCCGGCAGGCGGACGGCCCCCTGCTGCCACTGGCCACTCCATGGTGTTCCATGCCCCCTCCCGTGCCCTGCTGGTCCATGGTGGACACCGGCCCTCCACTGCCCGGTAAGTGACCTGTCCCATAACCCATGCTCCACAGGCCAGGCCCAGCTCAACACCATAGGCCTTTAGTCTTTAGAGGTCTTTGCCCACTGTCGGACTCCTGTGGTCTCTCAGTCACTCCTTCCTTCATGTATTTACTTATTCCTTCGTTCACTCATTCATTCATTCACCCACTCACACATTCTCTGATGTTTTATTCAATCTCTTGGTGAATTGCCTTCCACACACTCCCACCCATGTATCTATTCAACAGAGCCCTGCTTGGTGTCCAGCCCTTGCTAGCTTATGCAGGTAACTCAGAGATGACTCAGGGTCCTGCCCACAGGGAACTTCTAGTTTGGAGGGGACATAGAGTCAGTCATGGCCAGTCTCATCCCTGGGTGATCACATGGCTCCTAAGAGCCTGGAGGAGGGAGAGAGACGCTTCCTGCCCTGAGCCCCTGCCCTGCTTCTCCTTCGGTAGGTTCTCTGTGCGAGTGAACTCCACTGAGCTTTTCCACGTGGATCGGCATGTGTGGACGACGCTGAAGGGGCGGGATGGGCTTCAGGGCCCAAGGGAGCGAGCCTTCCACACAGCCAGTGTTCTGGGCAATTACATGGTGGTCTATGGTGAGGAGGCTCCCCAATCCTGCCTGCCTGCCTGCTGAGGGCCTGAGCCAACCCTGAGCTGAGGCTCCCTGCAGGGGAGTCCCCCCACCTCCCCTAGGCTTGCCAGCTATGCCCCTTTCCTCCATTCCCAGGGGGCAATGTGCACACCCATTACCAGGAGGAAAAG
Task1_train_27309
A genetic alteration is present in MEGF8 (multiple EGF like domains 8) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; MEGF8-related Carpenter syndrome
CTCAGGACCCAGCTCTGCCGCTGCTTATGGGGTGATGTAGTCCCTCACCATCTCTGGACCTCAGTGTCCTTAGTTGAGAGGAAAATAGGATTGCGCCGGCTGAGCTACGTCTGCAGAGAGAAGGGCTGAATGAGACATGTCTCTGGGGCATATAGAATGTGGTTGGTGTGAGGATCCCACACCACTCACTCTTTCCAGCTAGGCAGGAGTGTAGTAGCGCAATCTCAGCTCACTGCAACTTCTGCCTCCTGGGCTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGACATAAGCTGCTGCGCCCGGCATATATATATATATAACTTTATTGAGGCATATTTTATATATACTAACATATCAAGTAATTCCTGTCACACCTACCCCCAAATCAGTATCTTTTCTAAAGAGATCCAGTCTCATGTAAGGGCAGTAGGAGTTGTGGAAGGTTTGGAGCTTGCTGATTACAGGGCCCAATTCACGTTTTGAGGATCGCTGGGCCACCATGAGTGGGGAGTGTAGGCAGCCAGGATGACCAGTAGGGGATGGGTGCCGGTGTCCAGGTGGGACAGGACTTGGGCTTGGATAGCAGCTCAGGAGGTAGCTAGCAGTCGGTGAGAGATTTAGGCTTGAAGATCAATCTTGATGGGTTGGCTGAGGGAGGGGGTGCAGAATGGTTCATCCTGGCGATGATTATGAATAATATGGTGCCTTCCTTCCCTGCCCAGTCACACTGGGTTTTCTTAGCATCTGGGGGTGGAAGGGGCCAGGAACGTGACTTTGCTACCAGCCTCTGGCCTCTCTCTTCACAGGGCTGCTCGTGCTGCACTGGGAGGCCAATGGCTCCTCATCCTGGGGCTTCAATGCTTCGGTGGGCTCTGCCCGCTGTGGGTCAGGGGGCCCCGGGAGCTGTCCCGTCCCCCAGGAATGCGTGCCCCAGGACGGTGCTGCAGGTGCGGGGCTCTGCCGATGTCCTCAGGGCTGGGCTGGCCCACACTGCCGCATGGCTCTGTGTCCTGAGAACTGCAATGCCCACACTGGGGCAGGAACTTGTAACCAGGTACAGGTGGGAGAGGGCAAGTCTGGTGGGACAGGGCTGGTGATCAGGGCTCCCCTGAGTCCCTTGTCATCCCCCAGAGCCTGGGTGTGTGCATCTGTGCCGAGGGCTTCGGGGGCCCCGACTGCGCCACCAAGCTGGATGGCGGGCAGCTGGTCTGGGAGACCCTCATGGACAGCCGCCTCTCAGCCGTGAGTTGTGGGTACCCGCTGTCTAGGGATGGTTGCTCCCAGGTCGTTCTCCCACCTCCATTCCTGGGACCACCCCTACACCCAGGCCTGGCACTTTGTCCTGACCCTAGCCTGATCCCCAATGTCCGCACCCACCCCTAGGACACTGCCAGCCGCTTCCTGCACCGCCTGGGCCACACCATGGTGGATGGACCCGATGCCACCTTGTGGATGTTTGGGGGCCTGGGCCTGCCCCAGGGGCTGCTGGGAAACCTGTACAGGTGAGGACTGCCCTGGGCAGGTGGGATTCGCAAATAAGAGAAGGTCACCTCGGGATGCTAAGAGTCACCTCAGAGGAGTGCAGAAAAGCCTCTAAGGTAAAGGACAGCCCAAAGGATGCTGGGACACTTGTCACAGGAAGCTCACCCGGGGACACTTGGGGACCAGGGTACTTATTTGGGTGGTGCTACTCCAGGGAATGGCAAGAGGACTGTCATAGGAAGGTCACCCCAGGGGATGCGGGGACATCTGTCAGGCAGGGTCACCTTGAAGGATGCTGGGATGACTGTAATGAGGCTGCTTTTTTGCACCCTGGCCCCAGGTACTCAGTGAGTGAGCGGCGGTGGACACAGATGCTGGCGGGAGCCGAGGACGGGGGCCCAGGCCCATCGCCCCGCTCCTTCCATGCAGCCGCATATGTGCCCGCTGGCCGTGGTGCCATGTATCTGCTGGGGGGACTTACCGCTGGAGGCGTCACCCGTGATTTCTGGGTCCTCAACCTCACCACCCTGCAATGGCGGCAGGAGAAGGTGAGCATCTCTCCCCAGCCCACTCCCCAGCCCTCACACTGGGCCCTGACAGAGACAGCTGTGGTAGCTCCTGCCAGCTCCATCCCCAGAGGAAACAGAAGCCCCAAACTTGAATTTCCTCGGCCATCCTGGGTCACACTGTTGTCCTGAGCCAGTCCTGGGCTGGGACACAGCTTCACTCAGCAGCAGAGAGAGGCCAGGGGAGCAAGGGCTTCCCAAAGCCACACCAGGCTTGAGCAGGTGGAAATGCCAAGGGGCCCACTGTGCCTCTGCCAGGACCCAGGCTGGTCCGACTGGCCCTGGGGGGGTCATTCCCTCCTTAGTACTTCAGGGAGGACTGTGGGGGGCTGAGGCTCGCTTCTACCCACAAGGTGACCCCTGACCTCTAGCCCCATCGGTGACCTTGCCCCTCCATCCCTCAGGCCCCCCAGACCGTGGAGCTGCCAGCCGTTGCTGGTCACACCCTTACTGCCCGCCGAGGCCTGTCTCTGCTCCTGGTGGGCGGTTACTCCCCGGAAAATGGCTTCAACCAGCAGCTGCTGGAGTACCAGCTGGCAACCGGCACCTGGGTGTCAGGAGCCCAGAGTGGGACACCCCCCACAGGTGGGGCTGGGGACCGGGAGGGGACAGCCCCCGTGGACCTCCCGGGCATCTGGGCTTCCTGTGGGCTCTCCATCCACTGCTGTGCTCTGTGGCCACCTGTCTCCCTCTCTTTCCCATCCCCATGCAGATTCTCAGGGCACCCTCTTGAATGTTCAGATTTTCTGACTGTCCTTCCCAGACTCCACAACTAACTGCCCACTCCCGGCCACATGTGGCCACCGTCCCCTGCCCCCAGGGTCTGAGCTCCCTGCTTCTCAAGGGTTCTTCCTCGATCACACCTCCTTTCTTTGATCACTGTCCCCTAGACATTCTGGACGCCCTGTCTCCCTCCCGAGAGCCTGGCAGAACTTACTGCCAGTTGAGGACTCCCTTCTCTTTCCCAGAGTCTCTAATGATTGTCCATTTGAACCCAACTGAGAGGGACGGGTGGAGAGGGGCTCCCAGGCCTCCAGTCTCAGGGCCGGGGAAGGGAGTGGTCACCGAACAGGGGACCGGGAGGTCGGCGGGGTCAGTGCTGTTGTCAGCCCCTCCCCCAGCCTGTCACCCTGCCCCTCACCAGGTCTCTATGGTCACTCTGCTGTCTACCACGAGGCCACCGACTCCCTCTACGTGTTTGGGGGGTTCCGATTCCATGTGGAGCTGGCGGCCCCATCCCCCGAGCTCTACTCCCTGCACTGTCCTGACCGCACCTGGAGTCTGCTGGCCCCTTCTCAGGGGGCAAAGGTCAGGAAAAGAGGCTCAGACCCAAGGATGTATGGGGCAGGAGGGAGGGGTCCTCTTTCCCAGTGCCCCAGGGACTGGCTCCATCCCAGATTCCTGCTTCCCCTCCTTTCTATGTTCCCTAACTAAGCGACACCCCCACATCTCCCCCGCTTCCATCCCTGATTTGGAGGAGAGAACCCGAGGCCAGGAGGTCAGAGGCATGAGTTCTGCCCAGCTCTCCCCTGAGTCTTGGTGCGGCCCTGGCAGGCCCCTTCCCCGTCCTGGGTTTTTCCACTCGTATAAACCAGGACTGAGGCTCCCCGCTCTTTCTGCCTTCAAGGCCAAGGAGAATGTGTGTGGGAGGGCAGGGAGCCCTGTCTGCACTGGTTAGAGAGGCTGGTGGTTTCAGTCCACACGTTTCCAAGCCCGTCTTGGAGGCAGGGGGCTAGAAGCAAGAGACTCGAGGAGCCTCAACCCCAGGACGCCCCCACTGTCACTAGCGAGATCGTATGAGGAATGTGCGTGGCTCATCTCGGGGTCTGGGCCAAGTTCCTGGGGAGCAGCCTGGGTCATGGGGGTTCCGGGAAGTCAGGAAGAAGATGGCTCTGT
CTCAGGACCCAGCTCTGCCGCTGCTTATGGGGTGATGTAGTCCCTCACCATCTCTGGACCTCAGTGTCCTTAGTTGAGAGGAAAATAGGATTGCGCCGGCTGAGCTACGTCTGCAGAGAGAAGGGCTGAATGAGACATGTCTCTGGGGCATATAGAATGTGGTTGGTGTGAGGATCCCACACCACTCACTCTTTCCAGCTAGGCAGGAGTGTAGTAGCGCAATCTCAGCTCACTGCAACTTCTGCCTCCTGGGCTCCAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGACCTCAAGTGATTCGCCCACCTTGGCCTCCCAAAATGCTGGGATTACAGACATAAGCTGCTGCGCCCGGCATATATATATATATAACTTTATTGAGGCATATTTTATATATACTAACATATCAAGTAATTCCTGTCACACCTACCCCCAAATCAGTATCTTTTCTAAAGAGATCCAGTCTCATGTAAGGGCAGTAGGAGTTGTGGAAGGTTTGGAGCTTGCTGATTACAGGGCCCAATTCACGTTTTGAGGATCGCTGGGCCACCATGAGTGGGGAGTGTAGGCAGCCAGGATGACCAGTAGGGGATGGGTGCCGGTGTCCAGGTGGGACAGGACTTGGGCTTGGATAGCAGCTCAGGAGGTAGCTAGCAGTCGGTGAGAGATTTAGGCTTGAAGATCAATCTTGATGGGTTGGCTGAGGGAGGGGGTGCAGAATGGTTCATCCTGGCGATGATTATGAATAATATGGTGCCTTCCTTCCCTGCCCAGTCACACTGGGTTTTCTTAGCATCTGGGGGTGGAAGGGGCCAGGAACGTGACTTTGCTACCAGCCTCTGGCCTCTCTCTTCACAGGGCTGCTCGTGCTGCACTGGGAGGCCAATGGCTCCTCATCCTGGGGCTTCAATGCTTCGGTGGGCTCTGCCCGCTGTGGGTCAGGGGGCCCCGGGAGCTGTCCCGTCCCCCAGGAATGCGTGCCCCAGGACGGTGCTGCAGGTGCGGGGCTCTGCCGATGTCCTCAGGGCTGGGCTGGCCCACACTGCCGCATGGCTCTGTGTCCTGAGAACTGCAATGCCCACACTGGGGCAGGAACTTGTAACCAGGTACAGGTGGGAGAGGGCAAGTCTGGTGGGACAGGGCTGGTGATCAGGGCTCCCCTGAGTCCCTTGTCATCCCCCAGAGCCTGGGTGTGTGCATCTGTGCCGAGGGCTTCGGGGGCCCCGACTGCGCCACCAAGCTGGATGGCGGGCAGCTGGTCTGGGAGACCCTCATGGACAGCCGCCTCTCAGCCGTGAGTTGTGGGTACCCGCTGTCTAGGGATGGTTGCTCCCAGGTCGTTCTCCCACCTCCATTCCTGGGACCACCCCTACACCCAGGCCTGGCACTTTGTCCTGACCCTAGCCTGATCCCCAATGTCCGCACCCACCCCTAGGACACTGCCAGCCGCTTCCTGCACCGCCTGGGCCACACCATGGTGGATGGACCCGATGCCACCTTGTGGATGTTTGGGGGCCTGGGCCTGCCCCAGGGGCTGCTGGGAAACCTGTACAGGTGAGGACTGCCCTGGGCAGGTGGGATTCGCAAATAAGAGAAGGTCACCTCGGGATGCTAAGAGTCACCTCAGAGGAGTGCAGAAAAGCCTCTAAGGTAAAGGACAGCCCAAAGGATGCTGGGACACTTGTCACAGGAAGCTCACCCGGGGACACTTGGGGACCAGGGTACTTATTTGGGTGGTGCTACTCCAGGGAATGGCAAGAGGACTGTCATAGGAAGGTCACCCCAGGGGATGCGGGGACATCTGTCAGGCAGGGTCACCTTGAAGGATGCTGGGATGACTGTAATGAGGCTGCTTTTTTGCACCCTGGCCCCAGGTACTCAGTGAGTGAGCGGCGGTGGACACAGATGCTGGCGGGAGCCGAGGACGGGGGCCCAGGCCCATCGCCCCACTCCTTCCATGCAGCCGCATATGTGCCCGCTGGCCGTGGTGCCATGTATCTGCTGGGGGGACTTACCGCTGGAGGCGTCACCCGTGATTTCTGGGTCCTCAACCTCACCACCCTGCAATGGCGGCAGGAGAAGGTGAGCATCTCTCCCCAGCCCACTCCCCAGCCCTCACACTGGGCCCTGACAGAGACAGCTGTGGTAGCTCCTGCCAGCTCCATCCCCAGAGGAAACAGAAGCCCCAAACTTGAATTTCCTCGGCCATCCTGGGTCACACTGTTGTCCTGAGCCAGTCCTGGGCTGGGACACAGCTTCACTCAGCAGCAGAGAGAGGCCAGGGGAGCAAGGGCTTCCCAAAGCCACACCAGGCTTGAGCAGGTGGAAATGCCAAGGGGCCCACTGTGCCTCTGCCAGGACCCAGGCTGGTCCGACTGGCCCTGGGGGGGTCATTCCCTCCTTAGTACTTCAGGGAGGACTGTGGGGGGCTGAGGCTCGCTTCTACCCACAAGGTGACCCCTGACCTCTAGCCCCATCGGTGACCTTGCCCCTCCATCCCTCAGGCCCCCCAGACCGTGGAGCTGCCAGCCGTTGCTGGTCACACCCTTACTGCCCGCCGAGGCCTGTCTCTGCTCCTGGTGGGCGGTTACTCCCCGGAAAATGGCTTCAACCAGCAGCTGCTGGAGTACCAGCTGGCAACCGGCACCTGGGTGTCAGGAGCCCAGAGTGGGACACCCCCCACAGGTGGGGCTGGGGACCGGGAGGGGACAGCCCCCGTGGACCTCCCGGGCATCTGGGCTTCCTGTGGGCTCTCCATCCACTGCTGTGCTCTGTGGCCACCTGTCTCCCTCTCTTTCCCATCCCCATGCAGATTCTCAGGGCACCCTCTTGAATGTTCAGATTTTCTGACTGTCCTTCCCAGACTCCACAACTAACTGCCCACTCCCGGCCACATGTGGCCACCGTCCCCTGCCCCCAGGGTCTGAGCTCCCTGCTTCTCAAGGGTTCTTCCTCGATCACACCTCCTTTCTTTGATCACTGTCCCCTAGACATTCTGGACGCCCTGTCTCCCTCCCGAGAGCCTGGCAGAACTTACTGCCAGTTGAGGACTCCCTTCTCTTTCCCAGAGTCTCTAATGATTGTCCATTTGAACCCAACTGAGAGGGACGGGTGGAGAGGGGCTCCCAGGCCTCCAGTCTCAGGGCCGGGGAAGGGAGTGGTCACCGAACAGGGGACCGGGAGGTCGGCGGGGTCAGTGCTGTTGTCAGCCCCTCCCCCAGCCTGTCACCCTGCCCCTCACCAGGTCTCTATGGTCACTCTGCTGTCTACCACGAGGCCACCGACTCCCTCTACGTGTTTGGGGGGTTCCGATTCCATGTGGAGCTGGCGGCCCCATCCCCCGAGCTCTACTCCCTGCACTGTCCTGACCGCACCTGGAGTCTGCTGGCCCCTTCTCAGGGGGCAAAGGTCAGGAAAAGAGGCTCAGACCCAAGGATGTATGGGGCAGGAGGGAGGGGTCCTCTTTCCCAGTGCCCCAGGGACTGGCTCCATCCCAGATTCCTGCTTCCCCTCCTTTCTATGTTCCCTAACTAAGCGACACCCCCACATCTCCCCCGCTTCCATCCCTGATTTGGAGGAGAGAACCCGAGGCCAGGAGGTCAGAGGCATGAGTTCTGCCCAGCTCTCCCCTGAGTCTTGGTGCGGCCCTGGCAGGCCCCTTCCCCGTCCTGGGTTTTTCCACTCGTATAAACCAGGACTGAGGCTCCCCGCTCTTTCTGCCTTCAAGGCCAAGGAGAATGTGTGTGGGAGGGCAGGGAGCCCTGTCTGCACTGGTTAGAGAGGCTGGTGGTTTCAGTCCACACGTTTCCAAGCCCGTCTTGGAGGCAGGGGGCTAGAAGCAAGAGACTCGAGGAGCCTCAACCCCAGGACGCCCCCACTGTCACTAGCGAGATCGTATGAGGAATGTGCGTGGCTCATCTCGGGGTCTGGGCCAAGTTCCTGGGGAGCAGCCTGGGTCATGGGGGTTCCGGGAAGTCAGGAAGAAGATGGCTCTGT
Task1_train_27310
A genetic alteration is present in MEGF8 (multiple EGF like domains 8) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; MEGF8-related Carpenter syndrome
CTCCCTGGTTTCCATCATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGACTACAAGCATGTGCTATCATACCTGGCTAATTTTTTTTTTAGAGATGGGGTTTTAACCATGTTGCCCAGGCTAGTCTTGAACTCCTGAGCTCAAGCAATCCACTCACCTTGGCTTCTCAAAGTGTTGGGATTCTAGGCGTGAGCCACCGTGCCTGGTTGGGCTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGGGCTTACTCTGTCACCCAGGCTAGAGTATAATGGCGCAATCATAGTTCACTGCAGCCTTGAACTCCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGTAACTATAGGCACACACCACCATGCCTGGCTAATTTTAAAAAAATTTTAAAGACGGGGGTCTTACTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGGCACTCCTGCCTCAGCCTCCTGAAGCACTGGGATTACAGGCATGAGTCACTGCGTCTGTTTTCTCTTGGTTCTAATAGTGATTGCAGTAATAACTAGAATGCCAGGAGCGCCTGCCACAGAGCTGGATGCTGTGCTGTGTAGACAGTGGTGACAGCATAGATATGAAAGGCTTTGCAAGACTGTGCTGGGGCCTCAGTGGGGTACAGACTTAAGAGGAAGACAGATTCAGAGACATTAAATGTCCTAGCTGGGCACAGTGGCTCATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGGACACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTCACCCCAGATCAGGTGGTCAGTTAGGCTTGGTGCCTGGAGTGACCCTGGTCTGATCTCAGAACTTGAGTGGTTTCCACTAAGCCACAGGAATCATAGCCGTTATCTATCCAGCCACACATTCATTCAGCACACAGTCATTGAGCACCTAGTATATGGCAAGCACCGTGCAGGTTGCTGGGGACACAGTAGGGAACAAAGCAGGCAAATGTTCTGTCTTTAGGAGTTTGCATTCTCATGGAGGCATCAGAAATGAACAAACAAGTCAGATGCTCGTGTGTTAGACAGCGAGGAGCGCTAAGGAAAGTTAAGTAGGAAGCGGGGGCTAGGGCTGTTGGGGAGTGGGAATGGTAGACGCAGGACACAGTGGCCAGGGAAGGCCTAGGTGAGAAGGAGGCTCTTGAGCAAAGATCTGAAGGAGGCAAGGGGGCTTGACAAGCTGACAAGTGACAGGAGAACCATGCAGGCAGAGGGTCCGCCAGTGCAAAGGCCCCAGGGTGGGAGGGCGCCTGGCACAGTATAGAAGAAGCATCCAGGCAGGCAGGCGAGGCTGGCTGACCCTGCGCCGAGTGCCATGCACATGATCTCAGTGGTCCTGTGAGCGAGCCGTGGTTACTCCCTGTGTGCAGAGCTCATGGGTTAAGTCTGTGTGCTCAGGCTCAGTGAGGTTAAGTCACTAGTCCAAGGCCACACAGCTAACAAGGAGGTAGAGCCAGAATGCAGCCGCGTTCTTCACTGCTGTGCCTCAGAGTGCCAGAGGCCTCAGTATCAGGGTGCTCAGGTCACTAGGGTGGCACCAGGGGCAGCAGTGCTGGAGTGCCAGGTCCTGGCAAGGTCTACACTGTGGCAGAGAAGGTCCGGGGGGTCACAGGGAAGTGACTGGGGCAGTGGGGGTGAGGCCCAGGGCAATGGCTACTTAGCAGTGGGTATAGAGTATTCGTCACTGCTGCTTGGGGGACAGGCTGGCACCGCACTCAGCCCTGATGGTCACCGCCTCTAACCCTGCCCGCAGTGCGCCAAGTGCCGGGAATCATTTCACGGGAGTCCGCTGGGCGGCCAGCAGTGCTACCGCCTCATCTCGGTGGAGCAGGAGTGCTGCCTGGACCCCACGTCCCAGACCAACTGCTTCCATGAGCCCAAACGCCGGGCGCTAGGCCCCGGCCGCACTGTCCTCTTTGGCGTGCAGCCCAAATTCACCAACGTGGACATCCGCCTGACGCTGGACGTGACCTTCGGGGCCGTGGACCTCTATGTCTCCACCTCCTATGACACCTTCGTGGTCCGTGTGGCCCCTGACACTGGCGTCCATACTGTACACATCCAGCCACCCCCAGCCCCACCACCTCCACCACCCCCTGCAGATGGTGGGCCCCGGGGGGCTGGGGATCCAGGAGGAGCAGGGGCCAGCAGTGGGCCGGGCGCCCCAGCAGAGCCACGGGTACGGGAGGTATGGCCGCGGGGCCTGATTACCTACGTGACGGTGACGGAGCCGTCGGCAGTGCTGGTGGTCCGCGGCGTGCGGGACCGGCTGGTCATCACCTACCCACACGAGCACCATGCCCTCAAGTCGAGCCGCTTCTACCTGCTGCTGCTGGGCGTGGGAGACCCAAGTGGGCCCGGCGCCAACGGCTCAGCCGACTCGCAGGGCCTGCTCTTCTTCCGGCAGGACCAGGCCCACATTGACCTGTTTGTCTTCTTCTCCGTCTTCTTCTCCTGCTTCTTCCTCTTCCTCTCACTCTGTGTGCTCCTCTGGAAGGCCAAGCAGGCTCTGGACCAGCGGCAGGAGCAGCGCCGGCACTTGCAGGAGATGACCAAGATGGCCAGCCGCCCCTTCGCCAAGGTCACCGTCTGCTTCCCACCTGACCCTACTGCCCCGGCCTCCGCCTGGAAGCCGGCTGGGCTCCCACCTCCCGCCTTCCGCCGCTCTGAGCCCTTCCTGGCACCCCTGCTGCTGACAGGGGCCGGTGGGCCCTGGGGACCCATGGGAGGGGGCTGCTGCCCACCAGCCATCCCCGCCACCACTGCTGGGCTGCGAGCTGGGCCCATCACTCTCGAGCCCACAGAAGATGGCATGGCTGGCGTGGCCACACTGCTGCTCCAGCTGCCTGGCGGGCCCCATGCACCCAACGGCGCCTGCCTGGGGTCAGCCCTCGTCACACTGCGGCACAGGCTGCACGAGTACTGTGGGGGTGGTGGGGGTGCTGGGGGCAGTGGGCATGGGACTGGTGCGGGCCGGAAGGGACTGTTGAGCCAGGACAACCTCACCAGCATGTCCCTCTGACATGCCCAGGGTTCTCATCCACAGCAGCTGGGTCACCTGATAGGGCCGCCCTGGACTTGGGGTCCCTCCACCTGGGGGCCCCTGGACACTGTCTACTTGGAGACCACTGGCCCCCTTCCCCCAGGGTTGCCCAGATGGGGCCTCCTTTGTTCTGCATTCAGCAGCTATTTATCGAGTACCTACTCTGTCAGGCACTGTCATAGGCGTGGGGCAAAGCAGGAACCAAGAGACGAGGTTCCCTGATCTCATGGGACTTAGGTTCTGGTGAAGGGAGACAATCAGTGCACATGCACACACCCCACACGCATACACACATGAACACATGCACATGTGCACACACAAGTAAGATGGCTTCAGAGAGGGAGAAGCACTGTGAGGCCTCCAGAGGATGTGGCAGTGAGGGACGATGGGGTGAAGTCAGCTGGGCATTCAAAGAAGCTAGACTGAGAACGCCTGAGAAGAACCAGCTACGGGAAGAGCTTTGGGAAGCAAAGGCAGAGGCCCTGGGGTGGGAGCAGGCTTGTTTTATTGGAAGGACCAGAAAACTGGTAAGTGTGACCCAGATCAAGTGTGAGGAGATGAGGCTGGGGATAGTCAGGGGCTGGATCACCCAGGGCCTTGTGGGCCCCACATAGGGTTTTGGGTTTTATTCTCAGGGCAATGGGAAGCTGTTGGATGGTTTGATGAAGGGGAGTGACAGGATCCGATGTACCTATTTAAGAATTTAAGAGGGTCGGGTGCGGTGGCTCATGCCTATAATCCTAGCACTTTGAGAGGCCAAGGTGGGCTGATCACAAGGTCAAGAGTTC
CTCCCTGGTTTCCATCATCCTCCCACCTCAGCCTCCTGAGTAGCTGAGACTACAAGCATGTGCTATCATACCTGGCTAATTTTTTTTTTAGAGATGGGGTTTTAACCATGTTGCCCAGGCTAGTCTTGAACTCCTGAGCTCAAGCAATCCACTCACCTTGGCTTCTCAAAGTGTTGGGATTCTAGGCGTGAGCCACCGTGCCTGGTTGGGCTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGGGCTTACTCTGTCACCCAGGCTAGAGTATAATGGCGCAATCATAGTTCACTGCAGCCTTGAACTCCTGAGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAACTGTAACTATAGGCACACACCACCATGCCTGGCTAATTTTAAAAAAATTTTAAAGACGGGGGTCTTACTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGCGGCACTCCTGCCTCAGCCTCCTGAAGCACTGGGATTACAGGCATGAGTCACTGCGTCTGTTTTCTCTTGGTTCTAATAGTGATTGCAGTAATAACTAGAATGCCAGGAGCGCCTGCCACAGAGCTGGATGCTGTGCTGTGTAGACAGTGGTGACAGCATAGATATGAAAGGCTTTGCAAGACTGTGCTGGGGCCTCAGTGGGGTACAGACTTAAGAGGAAGACAGATTCAGAGACATTAAATGTCCTAGCTGGGCACAGTGGCTCATGCCAGCACTTTGAGAGGCTGAGGCGGGCAGATCACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCGGACACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGATATCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTCTCACCCCAGATCAGGTGGTCAGTTAGGCTTGGTGCCTGGAGTGACCCTGGTCTGATCTCAGAACTTGAGTGGTTTCCACTAAGCCACAGGAATCATAGCCGTTATCTATCCAGCCACACATTCATTCAGCACACAGTCATTGAGCACCTAGTATATGGCAAGCACCGTGCAGGTTGCTGGGGACACAGTAGGGAACAAAGCAGGCAAATGTTCTGTCTTTAGGAGTTTGCATTCTCATGGAGGCATCAGAAATGAACAAACAAGTCAGATGCTCGTGTGTTAGACAGCGAGGAGCGCTAAGGAAAGTTAAGTAGGAAGCGGGGGCTAGGGCTGTTGGGGAGTGGGAATGGTAGACGCAGGACACAGTGGCCAGGGAAGGCCTAGGTGAGAAGGAGGCTCTTGAGCAAAGATCTGAAGGAGGCAAGGGGGCTTGACAAGCTGACAAGTGACAGGAGAACCATGCAGGCAGAGGGTCCGCCAGTGCAAAGGCCCCAGGGTGGGAGGGCGCCTGGCACAGTATAGAAGAAGCATCCAGGCAGGCAGGCGAGGCTGGCTGACCCTGCGCCGAGTGCCATGCACATGATCTCAGTGGTCCTGTGAGCGAGCCGTGGTTACTCCCTGTGTGCAGAGCTCATGGGTTAAGTCTGTGTGCTCAGGCTCAGTGAGGTTAAGTCACTAGTCCAAGGCCACACAGCTAACAAGGAGGTAGAGCCAGAATGCAGCCGCGTTCTTCACTGCTGTGCCTCAGAGTGCCAGAGGCCTCAGTATCAGGGTGCTCAGGTCACTAGGGTGGCACCAGGGGCAGCAGTGCTGGAGTGCCAGGTCCTGGCAAGGTCTACACTGTGGCAGAGAAGGTCCGGGGGGTCACAGGGAAGTGACTGGGGCAGTGGGGGTGAGGCCCAGGGCAATGGCTACTTAGCAGTGGGTATAGAGTATTCGTCACTGCTGCTTGGGGGACAGGCTGGCACCGCACTCAGCCCTGATGGTCACCGCCTCTAACCCTGCCCGCAGTGCGCCAAGTGCCGGGAATCATTTCACGGGGGTCCGCTGGGCGGCCAGCAGTGCTACCGCCTCATCTCGGTGGAGCAGGAGTGCTGCCTGGACCCCACGTCCCAGACCAACTGCTTCCATGAGCCCAAACGCCGGGCGCTAGGCCCCGGCCGCACTGTCCTCTTTGGCGTGCAGCCCAAATTCACCAACGTGGACATCCGCCTGACGCTGGACGTGACCTTCGGGGCCGTGGACCTCTATGTCTCCACCTCCTATGACACCTTCGTGGTCCGTGTGGCCCCTGACACTGGCGTCCATACTGTACACATCCAGCCACCCCCAGCCCCACCACCTCCACCACCCCCTGCAGATGGTGGGCCCCGGGGGGCTGGGGATCCAGGAGGAGCAGGGGCCAGCAGTGGGCCGGGCGCCCCAGCAGAGCCACGGGTACGGGAGGTATGGCCGCGGGGCCTGATTACCTACGTGACGGTGACGGAGCCGTCGGCAGTGCTGGTGGTCCGCGGCGTGCGGGACCGGCTGGTCATCACCTACCCACACGAGCACCATGCCCTCAAGTCGAGCCGCTTCTACCTGCTGCTGCTGGGCGTGGGAGACCCAAGTGGGCCCGGCGCCAACGGCTCAGCCGACTCGCAGGGCCTGCTCTTCTTCCGGCAGGACCAGGCCCACATTGACCTGTTTGTCTTCTTCTCCGTCTTCTTCTCCTGCTTCTTCCTCTTCCTCTCACTCTGTGTGCTCCTCTGGAAGGCCAAGCAGGCTCTGGACCAGCGGCAGGAGCAGCGCCGGCACTTGCAGGAGATGACCAAGATGGCCAGCCGCCCCTTCGCCAAGGTCACCGTCTGCTTCCCACCTGACCCTACTGCCCCGGCCTCCGCCTGGAAGCCGGCTGGGCTCCCACCTCCCGCCTTCCGCCGCTCTGAGCCCTTCCTGGCACCCCTGCTGCTGACAGGGGCCGGTGGGCCCTGGGGACCCATGGGAGGGGGCTGCTGCCCACCAGCCATCCCCGCCACCACTGCTGGGCTGCGAGCTGGGCCCATCACTCTCGAGCCCACAGAAGATGGCATGGCTGGCGTGGCCACACTGCTGCTCCAGCTGCCTGGCGGGCCCCATGCACCCAACGGCGCCTGCCTGGGGTCAGCCCTCGTCACACTGCGGCACAGGCTGCACGAGTACTGTGGGGGTGGTGGGGGTGCTGGGGGCAGTGGGCATGGGACTGGTGCGGGCCGGAAGGGACTGTTGAGCCAGGACAACCTCACCAGCATGTCCCTCTGACATGCCCAGGGTTCTCATCCACAGCAGCTGGGTCACCTGATAGGGCCGCCCTGGACTTGGGGTCCCTCCACCTGGGGGCCCCTGGACACTGTCTACTTGGAGACCACTGGCCCCCTTCCCCCAGGGTTGCCCAGATGGGGCCTCCTTTGTTCTGCATTCAGCAGCTATTTATCGAGTACCTACTCTGTCAGGCACTGTCATAGGCGTGGGGCAAAGCAGGAACCAAGAGACGAGGTTCCCTGATCTCATGGGACTTAGGTTCTGGTGAAGGGAGACAATCAGTGCACATGCACACACCCCACACGCATACACACATGAACACATGCACATGTGCACACACAAGTAAGATGGCTTCAGAGAGGGAGAAGCACTGTGAGGCCTCCAGAGGATGTGGCAGTGAGGGACGATGGGGTGAAGTCAGCTGGGCATTCAAAGAAGCTAGACTGAGAACGCCTGAGAAGAACCAGCTACGGGAAGAGCTTTGGGAAGCAAAGGCAGAGGCCCTGGGGTGGGAGCAGGCTTGTTTTATTGGAAGGACCAGAAAACTGGTAAGTGTGACCCAGATCAAGTGTGAGGAGATGAGGCTGGGGATAGTCAGGGGCTGGATCACCCAGGGCCTTGTGGGCCCCACATAGGGTTTTGGGTTTTATTCTCAGGGCAATGGGAAGCTGTTGGATGGTTTGATGAAGGGGAGTGACAGGATCCGATGTACCTATTTAAGAATTTAAGAGGGTCGGGTGCGGTGGCTCATGCCTATAATCCTAGCACTTTGAGAGGCCAAGGTGGGCTGATCACAAGGTCAAGAGTTC
Task1_train_27311
Given this context: Chromosome 19, gene ETHE1 (ETHE1 persulfide dioxygenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Ethylmalonic encephalopathy
AAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGAGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGAAGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGG
AAGGAGAGGTGCAGTGTCATTGCCGCCCTCTCCTCCCACCTAGTGCATTAATAGTGGATGGGAGCATCTGACAGAAGTGAGATCAGGCAGTGGGTGTCTGCACCCCACAGCGCATGTTGGCTGGAACAGCAAAGTCTGAAAGGAAGAAATCAAGGTTAAAACTAAGGGGCCTAGGTAGAGTTCCAGGCCCCACTGGAGACCCAGAAATCCTAGGAACCTTTCCTCTTCAGGAAACTAGAGTTTTGGTCCTGAGCCCACTCCTTCCCTCAGACCCAGGAGTCCAGTACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTTCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGTCCCCAGTCCCTCCTCCCTCAGATCCAGGAGTCCAGGCCCCCAGTTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTTCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCAGCCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCCAGCTCCTCCTCCCTCAGACCCAGGACCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCAGCCCCTACTCCCTCAGAGCCAGGAGTCCAGGCCCCCAGCCCCTACTGCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCTCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCTCAGACCCAGGAGTCCAAGACCCCAGCCCCTCCTCTCTCAGACCCAGAAGTCCAGGTCCCCAGCTGCTCACCTATCTGCTGAGGTTTAGGCAAGTTCAGGTTGCCCATGATTTTGACAAACTCCTCACAGCTGAGGGTGAGCCGAGGGTTCAGAGTCCTCTCCTCCTCCACGGTGGACACTGTGAACCCTAGGGGCCAAGGGAGGGGAAGGAAAGTCAAGGAGTCTAGTGCCTCAGGCCTCTCAGAACTACATTCCCCAGGAGGCCTTGGGTGCCTCTCTGGCAGGGGCTCTTCCCAGAATATTCCTAAAATTGCTTTCCCTCCTCCATGGACACTATGGGAAATTTAGTTTTCCCCCAGTTCCCTAAGCTCCACAAGTAAGGCCCAGGAAAACCCATGCCCTGCAGAATTCTAGGCATCTGGCAGTCACATAGTTTCTACATCCACACACAGCAGGCTCAAGCACTTTATCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGGCTTGCTGTGTCACCCAGGCTGGAATATAGTGGTACAATCATAGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGCAATCCTTCTACCACAGCCTCCCAAGTAGCTGGCAGCATGCCACCATGCCTGGCTAATTTCTTGTATTTTGTAGAGGCAGGGTTTTGCCATGTTACTCCAGCTGGTCTCGAACTCACTCCTGGGCTCAAATGAGCCTCCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCCCCTTGCCCAGCCTCAAACACTTAATTTTTTTTGGCCAGAGAAATTTCTGAGACTGGTCGTCTTCATGCCCTACAAGGATTACAGAGATTTACACTCCACTTTCAAAGTTATGTACGCCCCACACCTCTTCCAGGAAGCCCTCACCATGGTAATCGTGAGCAGGGTAGATCAGACAGTCTCCTGGACGTGTGAAGATCTTTTCATGGACCGAGTGGTACAAGGTCTTGGCACAGCCTGGGGAAGGAAAGATCAGAGGTCAGTGGATCAACAGGACAGAAGACTCTAACCCCTTCCTTCAAGAAAAGGGTAGGAGGATAAAATCACTATAGCTAAACCCTCTCCTTCGTGTCCTGCCAATATCCCTTTGTCTAAGTAGAGAACAGGGAAAGGCATTCTAGGCAGATGGAACAGCATATACAAAGAATTGAGGAATGTCAAGAAATTCAGCATGGCTGTAAATAGGGTTGGAATGACACCGTGAAGCACCAAAGAGTGTCATTTGTGACCTTGGCTGTCACCCAGGGGATGTCAAGTAAGGGTTCTGAACAAGGAAGGTGGACTAGAAGGTAAGAAACTGAAGACAAAGCCAGGTGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGACTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACCCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGG
Task1_train_27312
This genomic variant is located on Chromosome 19, within the ETHE1 (ETHE1 persulfide dioxygenase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Ethylmalonic encephalopathy
AGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGAT
AGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCTGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGAT
Task1_train_27313
This alteration occurs within gene ETHE1 (ETHE1 persulfide dioxygenase) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Ethylmalonic encephalopathy
GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATC
GAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCCCTCCAGCCTGGGAGATAGAGCGCGGCTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCACCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATC
Task1_train_27314
A mutation on Chromosome 19 affecting ETHE1 (ETHE1 persulfide dioxygenase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Ethylmalonic encephalopathy
CTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGTGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATCTTTTTGGAGCTTTAAGATTTGACTGCCCCACTGGATTTAGGACTTGCACGGAGCCTGCAGCCCCTTCATTTTGGCCAATTT
CTCTGTCTCAAGAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATCACAAAGTCAGGAGATCGAGACCATCCTGGCTAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCTGGCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGAAGAAGAAGAAAGAAACTGCAGACATGAGGACATGAGGCCCAGGAGGAGAGTGTGAAGCCATGGTCCCCACAAGCAGCTCTGAGTCCTAAGTAGGGGGCAAACCTCTATTCCACCTTGCATTTCGGCCTAAATCCTTCAGCTTCCTGACTGTACTGTGAATGGATAAATGGGAGATTGGGAGCCTTGGAGAGAAAAAGACAGAGACTGAGATGCAGAGATAAGGAGAGAGGGAAGAGGGAGGAAGAGGCCTGGGGATGTGGCTTCCACGGCCATCTCATCATGGCTTCTGTCTTTCCCTCTCATCCAGCCTCACCTCTCCCCACAAGACAGCTAAATTCCAGGCCTAGTGTTAACCCCACATTCACACACATGCTCAAAGGATGGCCCAACCCTGAGATTCTGAAACTATACTCGCTTTCTACAGGGAAGCTCCTAAATCTAACTGCCCCTAGCAGCTAGACTCCAAATGGATCATTCATTGCTCCCTGGCAATTAAACCGCTGGCTTTAACAACTTCTTTTTTTATCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTAAATCTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCATGCCCAGCCCTTTGTTTTTTTTTTTTTTTTAGCTATATTTGTTTCTTAGAGAGGGAGTCTCACTATGTTGCCCAAGCTGGGCTCAAATAGGTAACTAACACACCCCTGAATCTAACTGTCCCCCAACAGCTAAGCCCCTGAATCTAACTCTTCCCATACTCTAGCATGGGGGTCCTTAACCCTGGGTACCGGTCCGTGGTCTGTTAGGAACTGGGCTGTGCAGAAGGTGGTGAGCGGTGGGTGAGTGAGCAAAGCTTCATCTGTAGTTACAGCCACTCCCCATCACTCCCGTTACCACCTGAGCTCTGCCTCCTGTCAGATCCGCAGCAGCATTAGATTCTCATAGGAGCACAAACTCTATTGCGAACTGCACATGCGAGGGATCTAGGTTGCGTTCTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTATCTTCCGTCTCTCCCAGATGTGACCATCTAGTTGCAGGAAAACAAGTTCAGGGCTCCCACTGATTCTACATGATGGTGAGTTACATAATTATTTCATTATCTATTGCAATGTAATAATAAAGTGCACAATAAATGTAATGCATTTGAATCCCCGAAACTATGCCCTGCCATGGTCCATGGAAAAATTGTCTTCCACGAAACCGGTCCCTGGTGCCAAAAAGGTTGGGGACCACTGTTCTAGCAGGTAAACTCCTTGAATTTAATACTGAAGCCCCCTAAAAGTCTAATGTCCATCCATTCATTCTTGTAACAGATACTTCAACACTTGACACACACGTAACTATATGAAGATCTTGGGCTGGATAAAGGAGCTGGTCACCTTGCTGGAAGTCTGTCCGCCCACACCCACGGATCAACAGGGCATCTCCAGTGAAGGCCATGCTGTGGTCATTCAGGACGAAGGTGACACAGCCTGGGGCGTGGCCAGGGCTGGCCCTGGTCTCCAACGCCTGGCAGGGGTGGAAGAGTACAGAGATAGTCACCAAGAAGCCTTCTAGATGAAACTGGCCCCCAAAGCCCCACCCTACCCCAGGGTCTTATCTAGATAAACATTTTGGTAAAAAATGTAGATTCCCAGGCTGTAATCTTATATTATCAGAGTAAACTCCAAGTGGATTAAAGATTTAAATGCATGAAAAATAAAACCGCAAAGCTGTGACACACAACAACAAAAATACAAATAATATCTGACCTCTGGTTAGGAAGGTGATATGGTTTGGCTGTGTCCCCACCCAAATCTCATCTTGAATTGTAGCTCCCATAATCCTCATATGTCATGGGAGGGACCAGGCAGGAGGTAATTGAATAATGGGGGCAGGTTTTTCCCATGCTGTCTCGTGATGATGAATAAGTCTCACGAGATCTGATGGTTTTATAAAGGGCAGTTCCCCTGCACACTCTCTCTTGCCTGCTGCCATGTAAGACAGGTCTTTGCTCCTCCTTCGCCTTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTATGAGTCCATTAAACCTCTTTTTCTTTATAAATGACCCAGTCTTAGGGATGTCTTTATTAGCAGCATGAGAAAAGACTAATACAGTAAATTGGTACCAGTAAAGTGGGGTGCTGCTATAAGGAGATGTGAAAATGTGACTTTGGAACTGGGTAACAAGCAGAGGTTTGAACAGTTTGGAAGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAGTGGCTTTGACCAATATGCCGAGAGTGATATGAACAATGAAGTCCAGGCTGACATGGTCTTACATGGAGATGAGGAACTTTTTGGGAACTGGGGTAAAGGTCACTTTTGTTATGTGTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGACTTAGGGTACCTAGTAGAAGAAATTTCTCAGCAGGAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCAAGAGGTGACTTGAGTGCTGTTAAAAGCATTCACTTCAGTTTTATGTATTCACAATGATATGGTTTGGAATTGGAACCTATGTTTAAAAGGGAAATAGAGCATAAATGTTTGGAAAATTTGCAGCCTGACAATGTGATAGAAAAAAAAACCCATTTTCTGAGGAAAAATTCAAGCCTGCTGCAGAAATTTGTATAAGTAACGAGGAGCCAAATGTTAATCACCAAGACAATGGGAAAAATGTCTCCAGGGCATGTCAGAGGTTTTCACAGCAGCCTCTCCCAACACAGGTCCAAAGGACTAGGAGAAAAAATGGTTTCATGGGCAGGGCCCATGGCCTTGCTGTTTTGTGCAGTCTCAGGACTTGGTGCCCTGCATCCCAGTCGGGGCTAAAAGGGGCCAAGTACAGCTCAGGCCATTGCTTCAGAGGGTGCAAGCCCCAAGCCTTGGTGGCTTACACGTGGTGCTGGGCCTGCTGGTGAACAGAAGTCAAGAACAGAGGTTTGGGAGCCTCCAGCTAGATTTGAGAGGCTGTATGGAAATGCCTGGATGTCCAGGCAGAGGTGTGCTGCAGGGGTGAAGCCTTCATAGGGAACCTCTGCTAGGACAGTGCAGAAGGGAAATGTGGAGTGGGAGCCCCCACAGAGAGTTCCCACTGGGGCACTGCCCCTAGTGGAGCTGTGAGAAGAGGGCCATCGCCCTCCAGAACCCAGAGTGTTAGATCCACCGAGAGCTTGCACCATGTGCCTGGAAAAGCCACAGATACTCCACACCAGCCCGTGAAAGCAGCCAGGAGTGGGGCTGTACCCTGCAAAGCCAGAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACCTCTTGCATCAGCATGACCTGGATTTGAGACATGGAGTAAAAGATCTTTTTGGAGCTTTAAGATTTGACTGCCCCACTGGATTTAGGACTTGCACGGAGCCTGCAGCCCCTTCATTTTGGCCAATTT
Task1_train_27315
Here is a mutation in ETHE1, LOC130064595 (ETHE1 persulfide dioxygenase| ATAC-STARR-seq lymphoblastoid silent region 10721) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Ethylmalonic encephalopathy
AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCCCACAGCTTCTGAGGAGGGGTTTCCTGCAACAACATTTATCTTAATTCTGGAGTTTCCAGGGAATGGTCCCTGGAGCTATTTTCAGAGCAGCCCCTGTGTGAATGCCTTTACACAGAGAAGGCCTGCTTTTCCTTAAGCCTATCAAATTGCTTCATTAAAATTTTATGTGGCCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACACCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGATGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGGCTGAGCTCATGCACAGGCACTTTGAGCACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAAGAGTTTGAGACAGCCTGG
AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCAATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCCCACAGCTTCTGAGGAGGGGTTTCCTGCAACAACATTTATCTTAATTCTGGAGTTTCCAGGGAATGGTCCCTGGAGCTATTTTCAGAGCAGCCCCTGTGTGAATGCCTTTACACAGAGAAGGCCTGCTTTTCCTTAAGCCTATCAAATTGCTTCATTAAAATTTTATGTGGCCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACACCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGATGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGGCTGAGCTCATGCACAGGCACTTTGAGCACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAAGAGTTTGAGACAGCCTGG
Task1_train_27316
Consider this mutation in ETHE1, LOC130064595 (ETHE1 persulfide dioxygenase| ATAC-STARR-seq lymphoblastoid silent region 10721) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Ethylmalonic encephalopathy
AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCATCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCCCACAGCTTCTGAGGAGGGGTTTCCTGCAACAACATTTATCTTAATTCTGGAGTTTCCAGGGAATGGTCCCTGGAGCTATTTTCAGAGCAGCCCCTGTGTGAATGCCTTTACACAGAGAAGGCCTGCTTTTCCTTAAGCCTATCAAATTGCTTCATTAAAATTTTATGTGGCCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACACCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGATGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGGCTGAGCTCATGCACAGGCACTTTGAGCACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAAGAGTTTGAGACAGCCTGGC
AAAAAAAAAAGAAAGAAAGAAAGAAAGAAAAAAAAAAAACACTGAAGCTAAATCTACCATAGCTAAACCCTTCGTTCATTTCAAGACATGTTTGTTAGCACCTATTATGTACAATGTACATACATGTACAATGCATTTTTGCCTGCTTCCAGAGAAAGGCTTGAAATAAAGCTTCTGTAACCATTGTAGCTGAACTCTCTTCCCACACACAGCCCTCATTTCCTCTAAACACTCTGACTCAAATGAACTGTCCCTATTTGGCAAAACTCTCTAACCTGGAGGCTGTCTTCTGTCACCTGACATTCTGTCCCCAAAGTCAGCCAAACTTTATTATACATCTTTAGCAATTGATCAGAAGAATGCCCTGCCAGCTGTTTCCCTCTCTCTGAGGGCAACTCCCCTGGCCCTCCCTCCTTCGGCCTGGTTGCAATTCTGGCCGGAAACCCGCTGGTGCCTGTGGCAAATAAAGTGAGGAAGGCAGGAACCTTTAGACTTCCCAGTGTGAGGCAACGGCAGGGCTAGGACTAGGGTGAGGCTGTTGGTGCAAGATTTAAGGAGGCGCTCACTCACAGGTGCGGACCCTGCACTTACAGGACCCTGAGAGCGAGTGCCTCCTTAAATGTTGCACTCCAGGGTCCTCACCGTCCTTTTCCTAGTCCTGGGCTCCGGGTTCTAAGCACCCAGATGCTCCTTCCTCAAACGGAGGTTTCCGCAAGACAGGACTGGGTCTCTTTCCTTCTCAGCCCTGCCCTCAGAATTCCAGCCCCTAATCAACTTTTATGGAGATGCATGCCAGGCCAAAGGGCTGCCCCTAAGCTTTAGGAAGGAAACTCCTTAAATGCTGTTGACTTAGGAGTTCCGCCAGTGCCCCACCTGCCCAGAGCCTCTTGCCCCAGTGCCCCACCTGGGTTTATGGTGCCCCCCTCCCAGAAATATGAGCTCAGGGGTCAGAAACCCAGGTCCTGAGGTCCCTCCTCCCCAAGGACTCAGGATCCCAGGCCCCCAGTCCCCTCTTCCCTTAAGTTTAAGAAGTCCAGGCCACCACCCTCTTGGGGACCCAGCACCCAACTCACGAAGCGCCCGAAGCGGATGGAGTCTCCATCCTCAATGTGTAAGTCAGCCTGGGCCCCACTAAGGCGGGAGATGACAGACTGGCAGCCAGGGAGGAGGGAACGGAGCAGCCCCGAGCCTGTAATGTGGTCCGCGTGGCAGTGGGTATTCACTGGGAGAGAGAGGAGGGACAGGTCCGGAGGGTACAGAAAGGACCTGGGAGTCCCAGCCCAGATCCTTCTCCCTCAGACTCAGGAGTTCTGGGCCCCAGCTTCCCATTCCACTGACGCTGCAGCCCAGCCCCGCTGGGATCCATGAGTTTGGTCCCCGGACTGACCAGCATAGAGCAGCCGCAGCCCCAGCTCCTTGATCAGCTGGGCATCCCGAGGCGCTGTTTCCAGGACTGGGTCGATCAGAACGGCCTCCCGGGACTCTCTGTCACCCAGCAGGTACGTGAAGGTGCAGCTCACAGGCTCGAACATCTGGGAACGGGGGACCCAGGTGAGGGCGCAGAACCGGACTTCCACCCACTGGAGGCCAAGTAGTCCAGACTGACCCTATCCTCTTCCTAAGATCCAGAAGCAGAAACCCCAGCCCACTCTTTCCCCGGGAGTCGGGAGTCCGGAGCCCCACTACCTTCCCCTATCAGAACAAAAGAGTTCCAACTTCCTAACATCCCAAAATCAGGGTCCCCAGCACGTTCTTTCATAGAGGACCCAGGGGTCTGGCCCCAAGCCCAGAGGCCCCCAGACCACTCACCTTTAAAGGACCCAAGAGTCCAGCCCTAAACCTCCACCCCGCTTTCCGCAAGATGCAGGCGTGGGTCCCCCCGGATCTCTCCCTATTAAGAGACCCCGGAGTTCCGTCCTTGCTGCCGCCTAGTGCCCAGCAGTCCCCTCCTAGGTCCAGCCACCCGCACCTGCCGCAGGAGGATGGGGGCTCCAGACCCGCCGCGCTGGCTCAGCTGCCGCCGGGCGACCCTCAGTACAGCCTCCGCCTTCGCGCCCACTGCGGGGTCAGGAATGAGCGGAGGCCGAGCGCCTGCAGGAGCCGGGCGCTACGGCACTGACCCCGGGAAGGGCGGGGCGGGGGCGGAGCACGCCTTAAAGGGGCCACGGACGCCTGGGGCAGAGGGCGGGGGACCGCCGAGCGGGACTGGGGCGAGGGCGAGACCGAGGAAAGCCAGAGTGCAATGCCTGGACGCTTTGAGACCCAGAAAAAACAGAGAACAGGGAGACACTCAAAGTGCGAGGGACAGACGCTCAGAGACACACAGACATACTCATGTAGGAACAGAGATAGGGAGAGAAGTAGAAACCCAGGGAGAGGCCCCAGTACACTCATAGCCTCGGGGCCGTTTTTTTTCCTTTTTCTTTTGTTTTATTTTGAGACAGAGTCTCGCTCTGTCACGCAGGCTTGAGTGCAGTGACTCGATCTCAGCTTACTACAGCCTTAAACTCCCGGGTTCAAGCGATCCTCCAACCTCAGCCTCCCGAGTAGCTGGGACTATGGCACGTTGCCACCACACCCGACATTTTATATATATATATTTATATCTATATATATATTTATATACATATATATATATACACACACACACACACATACATGTATATAAAATTTGTTTTTTGCAGAGACGGAGTTCTCACTATGTTGCCCAGGCTGATCTCGAACTCCTGAGCTCAAGCGTTCCTCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGTCCCGTGGGGCCGTTTTCTAGCAGGTGGTAGGATAGTCATGGTTAGAAAAAGATGTTCGGTTCCGGGAGGCAGAGGTTGCAGTGAGTAGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAGATATTCGTTCGGTTCCAGGTCATTAATATCTTGAGGGACTTTTGAGTGGGTGCCTGGTTACCAGAACAACACTTGATCCCATTAAAGTTCATCCAGAAATTGCATAAGCATTTTATCAGGAATGTTTCTCTCTTTCCAGGAAGAAATCTTAAAAAAAAAAAAAAAGATAATTTTGCATTATCTCTTGAATAATCAGATTGGGGATTATTCATCTTCTGTTGGGGTGTGAACCTCTGAAAAGAGCTTGTGTTCATTTACACCAAGGACCTGGGGCTGAAAAACTGTAGTCTCAAGTCATGAGCTGTCAGAAAGTCTGCTCTTTGTAATCGTAGCAGTAGTGAGAATAGGACATCCCACTCTCATCTGGAGGATCTATGTCACTTTGTGACATCAGAGCAGCCTTGATTTCCAGCCTAGGGGCAGAGCTTTTTTTTTTTTTTTTAATTGTTAGAATTTTTTTTGTAGAAACAGGGGTCTTGCTATGTTGCCTAGGCTGGTCTCCAGCTCCTGGCCTCAAATGGTCCTCCCACCTGGGCCTCCCAAAATGCTGGGATTACAGGTATGAACCACTGAGTTATCCTGTCCCACAGCTTCTGAGGAGGGGTTTCCTGCAACAACATTTATCTTAATTCTGGAGTTTCCAGGGAATGGTCCCTGGAGCTATTTTCAGAGCAGCCCCTGTGTGAATGCCTTTACACAGAGAAGGCCTGCTTTTCCTTAAGCCTATCAAATTGCTTCATTAAAATTTTATGTGGCCGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACACCATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTTATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCATTCCAGCCTGGGTGATGGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATGGCTGAGCTCATGCACAGGCACTTTGAGCACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAAGAGTTTGAGACAGCCTGGC
Task1_train_27317
This gene mutation involves XRCC1 (X-ray repair cross complementing 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
GGGGGTCGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGACTCAAGCAGTCCTCCCACCTCGGCCTCTCAAAGTACGGGGTGAGCCACCACGCCTGGCCTGCCTGGAGCCACTTAATGAGCTTAGTCCAGGCTGAAAACGTCAGTATCTGCCACTTCTTCACCTTTGCTCTCCTTTCCAACCAGTGCCTTTCTTGTTCTGACCTTTGGGGTGGCTCCTTCTTTCCATTTTAAGGTGACTCTCTAGGCCATCAATTTGCTGATGCCACTTTAGGGGCTTGGGAGAATCAAAGCATCTTCCTGCCCATCACCCACGAGGAACTGGGTGGAAACGGCTCTTCTGGAAGCCCCAGAACCACACCTCTGCACAGCCCGTGACTGTCTTTCCTCTGCTCCCTTCATTCTCGAAGAAGCTCTGCCTCCCTGCCCCTCATCCCACAACTCCCTGCAGAGTTTCCCCATTTCCTTTTGTTCTTATTCTTTTACACTGGAAATGCAAACACACAATGTGTGCAGACAGCATCCACGTCCAGAGTGATGGCTGATGTTAAAGCAGACACTGGTGTGCACCCACCCAGGGCCTGACAGAGAGCAGTGCCCCTGTCACCTGGTGTGCCCGGCTTCACCCCAGACCAACAGAACGGCACCTGAGCAAGTGAAGCACTAGCATGAGGGTGGGGCCCTCACCCCTGACGTGAAAAAAAGGAGGTCACACCTGGCACATGGCTGCGAGGGGAGTGGTCAGAACAAGAAATCTGGAGGGGAGAAAAAGGCAAGTCACAGAGAGGATGCTGAAAGGAAAGGAACAAGCCTGGCAGAACCTGAAGGTGCTGAGGCAGGGAGTGGGTTGAGGAAGGAGAGGGGAGGCAAGACACGGGGGCAGCAGTGACCCCAGGGCTGGCCAGGGCAAGTCCCAGCTGAGAACTGAGAAGAGAAAATGCCACTTCAGGAGGGATGGGGGGATTTCCCACCTGGGAGCTCAGGGACTGGCAGATCAGGAGGCTCCTGGTGTTCCTCACTGTCCGTGTTCTCATCCGTGGAGCCTGCATACGGGTCTTCCCCATTCTCCTCCTGGCCAGGGGGCAGTCTGTGTTCCTTCTGCTCTGCCACCCTGGGGGTGCCAAGAGGAGTAGAGAGTGAGCATGCAGAGCAGCCTCCCCTACACCCAAGGCCAGGGACACCCCAACCCCCAGCCCCAGCCCTACCTCCTCAGCTCATCCTCTGTGTCCCCAGAATCTTCCGCCCCATTGTCCTGTCCTTCTGCAAGTAGAAGCTCAGTCAATGCAAGGCTGCCTTGTCTCCTGGGAAGACTGGCAGCTCTCCCAGTATGGCACAGACCCAGGCATCTCATGCCCCCAGCCTCAACTGCCCTCCAGATCCAGTCGTCTGGGCCCCCAGCCCCTCCTCCCTCTGATCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGACTCAGCCCTTCCTCCCTCAGACACAGGAGTCCAGCCCCCAGCCCCTCCTCCCTCAGACCCAGAAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCATCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCTCTCTTCCCTCAGACTCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCGCAGGCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGAGTCTGACCTGACTGTACCCCCTCAATGTCTATATCTTCCTGGAGCACTGGTGAGGCTGCTTTGGTCTCTTCAGGGGTTGGGGGCTTCTGGGGTGAGCTGGGTCCAGCTGCCTGAGTGGGCTTGGTTTTGGTCTGGGGTTGCTAAGGAGGGAGAGTGGGTGGGTGAGGAGGGCAGGAACAGTGTGGGTGTGTTGGGGGGGTACCTGCAAGAGGCAAGAGTGGGAAGTTTGGGGTGCCACAGCGGACTCATGTCATCCTCCCACTACACCCTCCCCCACTGGACAGGGGGCATCAGACCTTCTGAGGAAGCTTGGGGGCTTCATCTCCGCTGCCACCGCTGTGAGAGGCCTCATCCTCCTCACTGCTGGAACCTGGCCCTGCCATGAGGTACCTAGGGGACAAATCGGGCCTCAGACAAACAGGCCCAAGGGAAGTGGGGAGGGCGTTCAGGAGGCAACAGCCATTGGCATTTACTAAAATACTCACTCTAGTGGGCCTCATGGTCTTGTTCCCAGCCCATTCTCTCCCAGCTCAGGAAGGCCCCAGTGAACCCAGTCAGTCTGGCCACCTGCCCTGCAGACCTGGGTACCCCCTTTCTTCCCCTCCCTCTTTTTTTTTTTGAGACAGAGTCCATTCCATCGCCAGGCTGGAGTGCAGTGGCCTCATCTCGGCTCACTGCAATCTCTGCCTCCAGGTTCGAGCGACTCCCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCACACCACCATGCCCCGCCAACTTTTTGTATTTTAGTAGAGACACGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGCTCTGCCCCCGTCAGCCTCTGAAAGTGCTGGAATTACAGGCGTTAGCCACCACTCCTGGCCGCTTTTTTTTTTTTTTAGACAAGATCTCACTCTGTCACCCAGGATAGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGGTTCGAGCGAGTCTCCTGCCTCAGCCTCCCCAGTAACTGCGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTGTGTTTTTTGTGTTGTTTTGTTTTTTAAGTACATACGAGGTTTCATCACGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACAGTACCCAGAATTCCCCTCCCTCTTGGGGAAGAAATGTCTCAATTCAGAAAGGAATGAAAAATCAGAACTTTCTCCTTTAAGAATCAAAGGCAGTTTCTCATTAGGAAAATACCCACCATTTAAGGGGAAAATCTCAAAGCAAACACATTTTAAAGACTACAACACTATAATCATGGTTCCTTAAGCCACTAACATTCCAGGAAAAGGATTTTCCTAGCTCTAACAACAGTAGCAGGTTCCCGTCCGGGAGGGAGGTGGGGGGCCAGCCGCCCCGTCGGGGGGGAGGTGGGGGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCTCCAGGAGGGAGGTGGGGGGCGCCTCCGCCCGGCCGCCGCCCCGTCCGGGAGGTGGGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAAAGATAGAGAAATCAGATTGTTGCTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAATCTATGACCTTACCCTCAACCCTGTGCTCTCTGAAACATGTGTTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCATTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAGCCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTTCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAAAAAAAAAAAAAAAAAAAACACAACAGTAGCAGGTTGACACTTACATGGGACTTCCTACATGCCAGGTAGCACGTGACAAATACTGAGTCACTGAATCCTGGGGTAGGTCCTATTTTTGGCCCCATTTTACAGGTGAGGAGACTAAGGCACAGAGAGATTATTT
GGGGGTCGGGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGACTCAAGCAGTCCTCCCACCTCGGCCTCTCAAAGTACGGGGTGAGCCACCACGCCTGGCCTGCCTGGAGCCACTTAATGAGCTTAGTCCAGGCTGAAAACGTCAGTATCTGCCACTTCTTCACCTTTGCTCTCCTTTCCAACCAGTGCCTTTCTTGTTCTGACCTTTGGGGTGGCTCCTTCTTTCCATTTTAAGGTGACTCTCTAGGCCATCAATTTGCTGATGCCACTTTAGGGGCTTGGGAGAATCAAAGCATCTTCCTGCCCATCACCCACGAGGAACTGGGTGGAAACGGCTCTTCTGGAAGCCCCAGAACCACACCTCTGCACAGCCCGTGACTGTCTTTCCTCTGCTCCCTTCATTCTCGAAGAAGCTCTGCCTCCCTGCCCCTCATCCCACAACTCCCTGCAGAGTTTCCCCATTTCCTTTTGTTCTTATTCTTTTACACTGGAAATGCAAACACACAATGTGTGCAGACAGCATCCACGTCCAGAGTGATGGCTGATGTTAAAGCAGACACTGGTGTGCACCCACCCAGGGCCTGACAGAGAGCAGTGCCCCTGTCACCTGGTGTGCCCGGCTTCACCCCAGACCAACAGAACGGCACCTGAGCAAGTGAAGCACTAGCATGAGGGTGGGGCCCTCACCCCTGACGTGAAAAAAAGGAGGTCACACCTGGCACATGGCTGCGAGGGGAGTGGTCAGAACAAGAAATCTGGAGGGGAGAAAAAGGCAAGTCACAGAGAGGATGCTGAAAGGAAAGGAACAAGCCTGGCAGAACCTGAAGGTGCTGAGGCAGGGAGTGGGTTGAGGAAGGAGAGGGGAGGCAAGACACGGGGGCAGCAGTGACCCCAGGGCTGGCCAGGGCAAGTCCCAGCTGAGAACTGAGAAGAGAAAATGCCACTTCAGGAGGGATGGGGGGATTTCCCACCTGGGAGCTCAGGGACTGGCAGATCAGGAGGCTCCTGGTGTTCCTCACTGTCCGTGTTCTCATCCGTGGAGCCTGCATACGGGTCTTCCCCATTCTCCTCCTGGCCAGGGGGCAGTCTGTGTTCCTTCTGCTCTGCCACCCTGGGGGTGCCAAGAGGAGTAGAGAGTGAGCATGCAGAGCAGCCTCCCCTACACCCAAGGCCAGGGACACCCCAACCCCCAGCCCCAGCCCTACCTCCTCAGCTCATCCTCTGTGTCCCCAGAATCTTCCGCCCCATTGTCCTGTCCTTCTGCAAGTAGAAGCTCAGTCAATGCAAGGCTGCCTTGTCTCCTGGGAAGACTGGCAGCTCTCCCAGTATGGCACAGACCCAGGCATCTCATGCCCCCAGCCTCAACTGCCCTCCAGATCCAGTCGTCTGGGCCCCCAGCCCCTCCTCCCTCTGATCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGACTCAGCCCTTCCTCCCTCAGACACAGGAGTCCAGCCCCCAGCCCCTCCTCCCTCAGACCCAGAAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCATCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCTCTCTTCCCTCAGACTCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCGCAGGCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGAGTCTGACCTGACTGTACCCCCTCAATGTCTATATCTTCCTGGAGCACTGGTGAGGCTGCTTTGGTCTCTTCAGGGGTTGGGGGCTTCTGGGGTGAGCTGGGTCCAGCTGCCTGAGTGGGCTTGGTTTTGGTCTGGGGTTGCTAAGGAGGGAGAGTGGGTGGGTGAGGAGGGCAGGAACAGTGTGGGTGTGTTGGGGGGGTACCTGCAAGAGGCAAGAGTGGGAAGTTTGGGGTGCCACAGCGGACTCATGTCATCCTCCCACTACACCCTCCCCCACTGGACAGGGGGCATCAGACGTTCTGAGGAAGCTTGGGGGCTTCATCTCCGCTGCCACCGCTGTGAGAGGCCTCATCCTCCTCACTGCTGGAACCTGGCCCTGCCATGAGGTACCTAGGGGACAAATCGGGCCTCAGACAAACAGGCCCAAGGGAAGTGGGGAGGGCGTTCAGGAGGCAACAGCCATTGGCATTTACTAAAATACTCACTCTAGTGGGCCTCATGGTCTTGTTCCCAGCCCATTCTCTCCCAGCTCAGGAAGGCCCCAGTGAACCCAGTCAGTCTGGCCACCTGCCCTGCAGACCTGGGTACCCCCTTTCTTCCCCTCCCTCTTTTTTTTTTTGAGACAGAGTCCATTCCATCGCCAGGCTGGAGTGCAGTGGCCTCATCTCGGCTCACTGCAATCTCTGCCTCCAGGTTCGAGCGACTCCCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCACACCACCATGCCCCGCCAACTTTTTGTATTTTAGTAGAGACACGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGCTCTGCCCCCGTCAGCCTCTGAAAGTGCTGGAATTACAGGCGTTAGCCACCACTCCTGGCCGCTTTTTTTTTTTTTTAGACAAGATCTCACTCTGTCACCCAGGATAGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGGTTCGAGCGAGTCTCCTGCCTCAGCCTCCCCAGTAACTGCGATTACAGGCATGTGCCACCACGCCTGGCTAATTTTGTGTTTTTTGTGTTGTTTTGTTTTTTAAGTACATACGAGGTTTCATCACGTTGGCCAGGATGGTCTCGAACTCCTGACCTCGAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACAGTACCCAGAATTCCCCTCCCTCTTGGGGAAGAAATGTCTCAATTCAGAAAGGAATGAAAAATCAGAACTTTCTCCTTTAAGAATCAAAGGCAGTTTCTCATTAGGAAAATACCCACCATTTAAGGGGAAAATCTCAAAGCAAACACATTTTAAAGACTACAACACTATAATCATGGTTCCTTAAGCCACTAACATTCCAGGAAAAGGATTTTCCTAGCTCTAACAACAGTAGCAGGTTCCCGTCCGGGAGGGAGGTGGGGGGCCAGCCGCCCCGTCGGGGGGGAGGTGGGGGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCTCCAGGAGGGAGGTGGGGGGCGCCTCCGCCCGGCCGCCGCCCCGTCCGGGAGGTGGGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCTGGCCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCATGATGACGATGGCGGTTTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAAAGATAGAGAAATCAGATTGTTGCTGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATGCTGTTAATCTATGACCTTACCCTCAACCCTGTGCTCTCTGAAACATGTGTTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCATTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAGCCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTTCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATGATCAAAAAAAAAAAAAAAAAAAACACAACAGTAGCAGGTTGACACTTACATGGGACTTCCTACATGCCAGGTAGCACGTGACAAATACTGAGTCACTGAATCCTGGGGTAGGTCCTATTTTTGGCCCCATTTTACAGGTGAGGAGACTAAGGCACAGAGAGATTATTT
Task1_train_27318
Gene SMG9 (SMG9 nonsense mediated mRNA decay factor) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
CCAACTCTGGGCCACCAGCTCTGCTGACTTTCACCACCAGGGGGTGTAAGAGACACTCCTCAAGGAAAACAGCTACGTTCTGAACTGTGGCTGCTGCTCCTTAGAATTACCTTAAAATTTTGTTTTGTTTTGTTTTTTAAAAGCGAATCCTATAGGCCAGGTGTTGTGGCCCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAACCCGGCTGGGTGCAGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTACAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGTTGGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCGGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGGAGCGAAATTCCATCACAAAAAAACAAAAAAAAAAACAACTATCTGCGCGTGATGTCGCACACTTGTGGTCCCAGCTACCTGGGAAGCTGAGGCTGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACCGTCTCCTAAATAAATAAAGCAAATCCTGGGCCCAATCAGGATTTAACGTGCTTTAACACATTAAAGCAGAATATCTATGGATGCCCTGTTCAATCAGTAGGCATTGATCATACATGGCTATTTAAATTAGTAAGCTTAAACAACATTAAAAATTCTGTTTGGTTGTACTAGCCACATTTCAAGTGCTCTAAAGCCACATCTGGGGATAGCGGCTACCATACTGGACGGATAGTTCAAATATATATGATCTTCATCACTGCAGAAAGTTTTCCTTAATAGCGCTGAAGGGTAGGGTTTGGTTTTTTGTTGTTGTTCTGTTTTTTGTTTTTTTAAAGCTCCCCAGTTAATTCCAATGTGAGAGTGGACACAGAAGTGGCAGGGGCAAGGCAATAAATGGACTTGAGGCTGTGCTAATAAGTCCAGGCTGCTGGGTAGGAGAGGTGACACCTCTGGGACAATCTGAGCAGGGGTGTGACAGGTCTAGGGGAGAAAAAGCAGAAGAAGGGACACAACATCTGGGAGACTGGTGTTATGTATGATGATCTAGGAATGTGAGGTCTGAACTAGAGCAGGGGGTGGTGGGATGGATGGGGGTCACTTTGGGGGAGTGACATTCAAAACAGTTGACACTGAGACAGCGTGGGCTTCTTGTTCTTTTTTTTTTTTTTTTTACTGAGACAGGGTCTCACTCTGTTGTTGAGGTTGGAGTGCAATGTCATGATCACAGCTCTCTGCAGCCTTGACCTCCTGGAGTCAAGTGATCCTCTTACCTCAGCCTCCTGAGTGGCCTGGATGCCTCCTGCCACCATGCCTGGCTAATTTTTAAATTTTTGGTAGAAATGGAGTATTCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTTAGGTGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGCAAGGGTTTCAACCAAATAAGAAGGGTACTGGAGCAGGGTCCAAAAGACTCCCCTGCTGTGGATGGCACGGGAGATCCCAGGGGTCCTGGGGTGGTAGTGAGAGTACTTCTTTACCAATCGGTACCAAAGGAGTTCTGTATTTTACCAACTAGCAAGCACAGCCGAGCTAGTTGAAATTCCGCTCTGGTTAGGTGAGAATGTTCTGATACCACCCCCTCTCACTGCTGTAAGTTGCCTCAAAACCCTCCAGTCTGGTGTTGCCTACAGAGAGGTGGAAGATCAGAGGATGCAGGATGTGCGGAAGCTCAGGCAGGGCAGGACCCCTCGGTACCTCGATGGCACTGTCACACCAATTCATCTGGTCATCCACCAACTTGATGCTGTGCTTCATGCGCTCTGGGGGCAGTAGTTTGGCCTGACCCACGACAGCTGGAGATTGGAGAAAGCAGGAGACAGAGGATGCAGTGAGGATCTGTGAGGAGACGCCAGTTCCCAACCTGGTACTGCCCAGCCCCAACTCACGGTCCATGGCTGCTGGTGCGGCAGTGCCCATGCCCCGGTTCTGGATCTGGTACACAGGCTGTGTGGGTCTCTGCCCCTCCTTCTCCCCCTTGGGTGGCGCAGGGGCTGCAGGGGGTGGTGGGGCGGTGCCCTCAGGGGTAGAGGCACCTGTCACGGCCACAGGCCCCTTCCCCTCCTCCCGTGGCTTCATGAGAACGATGGGCTTCTCCAGAGGGGCTGGAGCAGGCGGGGCAGCAGGGGCTGTTGGAGGTGGTGGCTGTTTTGACTACGGAGGTAAAAAAAATCCCATCAATGGGGGCAATCCCTTCCCTAACGGCTCCCCCTCCTCCCTCCTTCTCTGCTCACCCGCTCTGCTGGAGGTTTTGAGAGGATGATGGGGGTTTTCTGCATGACGGAAGTGCTTGTCTCTTCGCTGGCATCCTGTGGTGAGGGAGGGCAGTTACTCATGAATGGCTCTCCTGGACATTCCAGATCTTTATGTACCATGAACTATTCTAAATGCCGAAATATATTAACTACCTTGATCCTACCAACAGCCCTGTGAGATAGATACTATTATTACCCCCACTTTACAGATGAAGAAAATGAAGCCTAGAAAGGTTAAGCAGATTGCCCAAAGTCACAAAGCCCAGGCAGCCTGGCTGCAGAACCAAATCCTCAAGCATTCTGCTCAGCTGCCTCTGCGAGGCAACAAGCCCAGGAGGAAAGGAACTAGGAGCTAGACAGGTCTGGGTGCAAACCTGATCCCGCCTCGTGTTGGCTGTGTGAACTTGAATAAGGAACCACCCTCGCCACCTTCACTTATGCCTCATTTTCCCATCTGTGAGTGGGTATGGGAATTCCTTCCTCACAGACTATGATGAGGATGAAAGGAGAGAGAACTCATCAAGTGTCTAGCATGGCACCTGACACATGGCAGGTGCTCACTATGTGAGAGCTGCTGGTGGCACTTGCTATCCTGATCACCTCTGCCTCAGCCCCCTCCTGCTCTGGCAAAGCTGGCAGGCTGATCCCAAGCCTTGACCTCTTCATGCCTCCCCAACTTACCCTCAGTCTGCTGAAGAGGGGAGAAATCTGAGTCTGAGTCCCGTTCTTTCTCTGGTTCCTTGAGTAACCTCATGAGAGTCTTGACCCCTAACTGTGTCTGTTCCTTCACCAATATACTGAGGACACTTACTTAAACCCTGCTCACTTCACTGGCTTACGGTGAAGAACAAACAAAAAGACGAAGTGAAAGTGCTTCGAAAAGAAGTTTCAAGGGAAAAACTACAGGAGGAGAGGCTGTGGACTTCCAGGAGGCTAGGAAGGGGGAGATGATACAGGCTGAGTATCTCTTATCTCAGATGCCTGGGACCAGAAGTGTTCTGAATTTGGGATTTTTTTGAACTTTGGAATATTTGCATATTTACTGGTTGAGCACCCCAAATCCATTTGCAAGGCTCCAATAAACATTTCCCTTAAATGTCACGTTGGTGCTCAAAACATTTGGAATTTTGGAGCACTTCGGATATTCAGTCTATACCTGGGATGAACGCTGTGAGGGTAGAGAGAAGACACACAGATATAACCAGGCGGCAGAATGTAAAGCACTGGTGCCTGACTAGCACAGAGGAAGCAGGGGAGAGGCGAGAGAGGCATTCAGGATAAGGCCCAATGGGCTGTCACTGATATGGGAGAAAAAAATGGGAAGAGGAAAAATGGCAGAAAGATGCCGAGGTCAGCACGGGACACAGAGGATAAGAAGCCCATGGGTGTGACAAGAGGCTGCCAGGGCTCAGTAGCACATTTAGAGACAAAGATGAGGTTTAGGAGGTGCTTGTTCAAGGATTAAACCTGAAGGTGTGGCGGGATAACATTCCCCAGGAGGGCATTATGTGGAAGGAAGAGAGACTAC
CCAACTCTGGGCCACCAGCTCTGCTGACTTTCACCACCAGGGGGTGTAAGAGACACTCCTCAAGGAAAACAGCTACGTTCTGAACTGTGGCTGCTGCTCCTTAGAATTACCTTAAAATTTTGTTTTGTTTTGTTTTTTAAAAGCGAATCCTATAGGCCAGGTGTTGTGGCCCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACCAAAAATACAAAACCCGGCTGGGTGCAGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTACAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGTTGGGTGTGGTGGTACATGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCGGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGGAGCGAAATTCCATCACAAAAAAACAAAAAAAAAAACAACTATCTGCGCGTGATGTCGCACACTTGTGGTCCCAGCTACCTGGGAAGCTGAGGCTGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTAGGCAACAGAGCGAGACCGTCTCCTAAATAAATAAAGCAAATCCTGGGCCCAATCAGGATTTAACGTGCTTTAACACATTAAAGCAGAATATCTATGGATGCCCTGTTCAATCAGTAGGCATTGATCATACATGGCTATTTAAATTAGTAAGCTTAAACAACATTAAAAATTCTGTTTGGTTGTACTAGCCACATTTCAAGTGCTCTAAAGCCACATCTGGGGATAGCGGCTACCATACTGGACGGATAGTTCAAATATATATGATCTTCATCACTGCAGAAAGTTTTCCTTAATAGCGCTGAAGGGTAGGGTTTGGTTTTTTGTTGTTGTTCTGTTTTTTGTTTTTTTAAAGCTCCCCAGTTAATTCCAATGTGAGAGTGGACACAGAAGTGGCAGGGGCAAGGCAATAAATGGACTTGAGGCTGTGCTAATAAGTCCAGGCTGCTGGGTAGGAGAGGTGACACCTCTGGGACAATCTGAGCAGGGGTGTGACAGGTCTAGGGGAGAAAAAGCAGAAGAAGGGACACAACATCTGGGAGACTGGTGTTATGTATGATGATCTAGGAATGTGAGGTCTGAACTAGAGCAGGGGGTGGTGGGATGGATGGGGGTCACTTTGGGGGAGTGACATTCAAAACAGTTGACACTGAGACAGCGTGGGCTTCTTGTTCTTTTTTTTTTTTTTTTTACTGAGACAGGGTCTCACTCTGTTGTTGAGGTTGGAGTGCAATGTCATGATCACAGCTCTCTGCAGCCTTGACCTCCTGGAGTCAAGTGATCCTCTTACCTCAGCCTCCTGAGTGGCCTGGATGCCTCCTGCCACCATGCCTGGCTAATTTTTAAATTTTTGGTAGAAATGGAGTATTCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTTAGGTGATTCTCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGCAAGGGTTTCAACCAAATAAGAAGGGTACTGGAGCAGGGTCCAAAAGACTCCCCTGCTGTGGATGGCACGGGAGATCCCAGGGGTCCTGGGGTGGTAGTGAGAGTACTTCTTTACCAATCGGTACCAAAGGAGTTCTGTATTTTACCAACTAGCAAGCACAGCCGAGCTAGTTGAAATTCCGCTCTGGTTAGGTGAGAATGTTCTGATACCACCCCCTCTCACTGCTGTAAGTTGCCTCAAAACCCTCCAGTCTGGTGTTGCCTACAGAGAGGTGGAAGATCAGAGGATGCAGGATGTGCGGAAGCTCAGGCAGGGCAGGACCCCTCGGTACCTCGATGGCACTGTCACACCAATTCATCTGGTCATCCGCCAACTTGATGCTGTGCTTCATGCGCTCTGGGGGCAGTAGTTTGGCCTGACCCACGACAGCTGGAGATTGGAGAAAGCAGGAGACAGAGGATGCAGTGAGGATCTGTGAGGAGACGCCAGTTCCCAACCTGGTACTGCCCAGCCCCAACTCACGGTCCATGGCTGCTGGTGCGGCAGTGCCCATGCCCCGGTTCTGGATCTGGTACACAGGCTGTGTGGGTCTCTGCCCCTCCTTCTCCCCCTTGGGTGGCGCAGGGGCTGCAGGGGGTGGTGGGGCGGTGCCCTCAGGGGTAGAGGCACCTGTCACGGCCACAGGCCCCTTCCCCTCCTCCCGTGGCTTCATGAGAACGATGGGCTTCTCCAGAGGGGCTGGAGCAGGCGGGGCAGCAGGGGCTGTTGGAGGTGGTGGCTGTTTTGACTACGGAGGTAAAAAAAATCCCATCAATGGGGGCAATCCCTTCCCTAACGGCTCCCCCTCCTCCCTCCTTCTCTGCTCACCCGCTCTGCTGGAGGTTTTGAGAGGATGATGGGGGTTTTCTGCATGACGGAAGTGCTTGTCTCTTCGCTGGCATCCTGTGGTGAGGGAGGGCAGTTACTCATGAATGGCTCTCCTGGACATTCCAGATCTTTATGTACCATGAACTATTCTAAATGCCGAAATATATTAACTACCTTGATCCTACCAACAGCCCTGTGAGATAGATACTATTATTACCCCCACTTTACAGATGAAGAAAATGAAGCCTAGAAAGGTTAAGCAGATTGCCCAAAGTCACAAAGCCCAGGCAGCCTGGCTGCAGAACCAAATCCTCAAGCATTCTGCTCAGCTGCCTCTGCGAGGCAACAAGCCCAGGAGGAAAGGAACTAGGAGCTAGACAGGTCTGGGTGCAAACCTGATCCCGCCTCGTGTTGGCTGTGTGAACTTGAATAAGGAACCACCCTCGCCACCTTCACTTATGCCTCATTTTCCCATCTGTGAGTGGGTATGGGAATTCCTTCCTCACAGACTATGATGAGGATGAAAGGAGAGAGAACTCATCAAGTGTCTAGCATGGCACCTGACACATGGCAGGTGCTCACTATGTGAGAGCTGCTGGTGGCACTTGCTATCCTGATCACCTCTGCCTCAGCCCCCTCCTGCTCTGGCAAAGCTGGCAGGCTGATCCCAAGCCTTGACCTCTTCATGCCTCCCCAACTTACCCTCAGTCTGCTGAAGAGGGGAGAAATCTGAGTCTGAGTCCCGTTCTTTCTCTGGTTCCTTGAGTAACCTCATGAGAGTCTTGACCCCTAACTGTGTCTGTTCCTTCACCAATATACTGAGGACACTTACTTAAACCCTGCTCACTTCACTGGCTTACGGTGAAGAACAAACAAAAAGACGAAGTGAAAGTGCTTCGAAAAGAAGTTTCAAGGGAAAAACTACAGGAGGAGAGGCTGTGGACTTCCAGGAGGCTAGGAAGGGGGAGATGATACAGGCTGAGTATCTCTTATCTCAGATGCCTGGGACCAGAAGTGTTCTGAATTTGGGATTTTTTTGAACTTTGGAATATTTGCATATTTACTGGTTGAGCACCCCAAATCCATTTGCAAGGCTCCAATAAACATTTCCCTTAAATGTCACGTTGGTGCTCAAAACATTTGGAATTTTGGAGCACTTCGGATATTCAGTCTATACCTGGGATGAACGCTGTGAGGGTAGAGAGAAGACACACAGATATAACCAGGCGGCAGAATGTAAAGCACTGGTGCCTGACTAGCACAGAGGAAGCAGGGGAGAGGCGAGAGAGGCATTCAGGATAAGGCCCAATGGGCTGTCACTGATATGGGAGAAAAAAATGGGAAGAGGAAAAATGGCAGAAAGATGCCGAGGTCAGCACGGGACACAGAGGATAAGAAGCCCATGGGTGTGACAAGAGGCTGCCAGGGCTCAGTAGCACATTTAGAGACAAAGATGAGGTTTAGGAGGTGCTTGTTCAAGGATTAAACCTGAAGGTGTGGCGGGATAACATTCCCCAGGAGGGCATTATGTGGAAGGAAGAGAGACTAC
Task1_train_27319
A change on Chromosome 19 affects gene KCNN4 (potassium calcium-activated channel subfamily N member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Dehydrated hereditary stomatocytosis 2
CCTTTGGTCCTTGCACTTGAGGTGCTTTGTTCAGGGCTGGGTCAGGAGTGGCAGAGACGATGTCCACCACCTCAGTACTGGGGAAAGTAGCCTGGTTCCTCCTCGTGGGTCCTGGAGAGACAGAGAGACTGATGGAGAGGCAGGCCAGGAAGAGGGAGAGTGAGAGTGGGACACACCGAGGTGCAGACAGAAACCGGTGGGCAGAAGTGGGAGACAGGGGGCAGGTGTTTCCGGGCCCCGAGGCCAGGGGGCAGGAGGGCATTTAGACAGAGACATTGGATGGACAGCCAGACAATGTGCCCAGGACAGGCAGAGAGAGAGAGAGAGACCAAGCAAAGAGGGAGAAGGCCATCAAGGGTCAGTGAAGGGGAGAGGGTACACCATCTTCCTTCACTGCCAGTCCAGCCCCGAACTGAGTCCTTTCCTCCAGACAGTGCCAGAGCTGATGAGAAAAGGCGGCCTTGTCTCCCAGCCATCCCCCGCCCCCTTAGCCACATAGGGTGCTGGCCACAGGAACCCTTCCTCCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGCGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGACTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCACCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGG
CCTTTGGTCCTTGCACTTGAGGTGCTTTGTTCAGGGCTGGGTCAGGAGTGGCAGAGACGATGTCCACCACCTCAGTACTGGGGAAAGTAGCCTGGTTCCTCCTCGTGGGTCCTGGAGAGACAGAGAGACTGATGGAGAGGCAGGCCAGGAAGAGGGAGAGTGAGAGTGGGACACACCGAGGTGCAGACAGAAACCGGTGGGCAGAAGTGGGAGACAGGGGGCAGGTGTTTCCGGGCCCCGAGGCCAGGGGGCAGGAGGGCATTTAGACAGAGACATTGGATGGACAGCCAGACAATGTGCCCAGGACAGGCAGAGAGAGAGAGAGAGACCAAGCAAAGAGGGAGAAGGCCATCAAGGGTCAGTGAAGGGGAGAGGGTACACCATCTTCCTTCACTGCCAGTCCAGCCCCGAACTGAGTCCTTTCCTCCAGACAGTGCCAGAGCTGATGAGAAAAGGCGGCCTTGTCTCCCAGCCATCCCCCGCCCCCTTAGCCACATAGGGTGCTGGCCACAGGAACCCTTCCTCCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGTGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGACTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCACCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGG
Task1_train_27320
Gene KCNN4 (potassium calcium-activated channel subfamily N member 4), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
CCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGCGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGACTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCACCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGGGAACCCGATCTTGTAGGGAGGTGAAGGCCAAGGCATTAGGTGCTAGTCTCTAGAGGGGGCCAGGGCTGGGTGGGAGGACCTGAGTGACTGGGTCTATGGAGGGAAGGAGGTGGATGTCAGGGTTCAGGAAGAGGCTGACTCAGGCTGCAGAGCCTCTGCCTCATCCTTGAGGGCAACAGGAGCTGGTGTGGGGTGGCTGGATGCCTGGCCACCCCTAGACCTGTTTACTGAGCACCTCCTGTGGGCTGGGCACTGTTGGAAGCACTTTACGTAGTTGGACCCATTTAATCATCTCAGCAAGCCCATGAGGAGCATCAGCATCCCCATTTTATAGATGAGGAAAGTGAGGCCCCGAGAGATCACGTGGCTCGCCTGAGCTCCCCAGCCAGGAAGTGGCAGCCGCAGGATTCGGACCCAGGTAGCCTGGCCCCACAGGTATGCACTTGATAACTGGACTCTACACCCTTGATGGAGGCTGGGAGACGATTTCCCAGTTCTGGAAGAAAATGGGGCTGCGAAGTCAG
CCAGGATGCCTTCCTGCCCAAGTCCCAGCCCCCTCACCAGCTACTTGGACTGCTGGCTGGGTTCTGGAAGCTGCCTCGGCCCCAGGGCAGTGCTAAGCAGCTCAGTCAGGGCATCCAGCTTCCCCGCCAGCGTGTCAATCTGTTTCTCCAGGGCCCGGTGTGAGCTGCTCAGATTCTGCTGCAGGTCATACAGGATCATGTGCATCTGGGTGGGAGGAGAGGATCAGAGGTGTCGGGGCTGGGGTCGACCCCCACCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGCGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGGCTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCACCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGGGAACCCGATCTTGTAGGGAGGTGAAGGCCAAGGCATTAGGTGCTAGTCTCTAGAGGGGGCCAGGGCTGGGTGGGAGGACCTGAGTGACTGGGTCTATGGAGGGAAGGAGGTGGATGTCAGGGTTCAGGAAGAGGCTGACTCAGGCTGCAGAGCCTCTGCCTCATCCTTGAGGGCAACAGGAGCTGGTGTGGGGTGGCTGGATGCCTGGCCACCCCTAGACCTGTTTACTGAGCACCTCCTGTGGGCTGGGCACTGTTGGAAGCACTTTACGTAGTTGGACCCATTTAATCATCTCAGCAAGCCCATGAGGAGCATCAGCATCCCCATTTTATAGATGAGGAAAGTGAGGCCCCGAGAGATCACGTGGCTCGCCTGAGCTCCCCAGCCAGGAAGTGGCAGCCGCAGGATTCGGACCCAGGTAGCCTGGCCCCACAGGTATGCACTTGATAACTGGACTCTACACCCTTGATGGAGGCTGGGAGACGATTTCCCAGTTCTGGAAGAAAATGGGGCTGCGAAGTCAG
Task1_train_27321
This variant affects the gene KCNN4 (potassium calcium-activated channel subfamily N member 4) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Dehydrated hereditary stomatocytosis 2
CCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGCGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGACTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCACCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGGGAACCCGATCTTGTAGGGAGGTGAAGGCCAAGGCATTAGGTGCTAGTCTCTAGAGGGGGCCAGGGCTGGGTGGGAGGACCTGAGTGACTGGGTCTATGGAGGGAAGGAGGTGGATGTCAGGGTTCAGGAAGAGGCTGACTCAGGCTGCAGAGCCTCTGCCTCATCCTTGAGGGCAACAGGAGCTGGTGTGGGGTGGCTGGATGCCTGGCCACCCCTAGACCTGTTTACTGAGCACCTCCTGTGGGCTGGGCACTGTTGGAAGCACTTTACGTAGTTGGACCCATTTAATCATCTCAGCAAGCCCATGAGGAGCATCAGCATCCCCATTTTATAGATGAGGAAAGTGAGGCCCCGAGAGATCACGTGGCTCGCCTGAGCTCCCCAGCCAGGAAGTGGCAGCCGCAGGATTCGGACCCAGGTAGCCTGGCCCCACAGGTATGCACTTGATAACTGGACTCTACACCCTTGATGGAGGCTGGGAGACGATTTCCCAGTTCTGGAAGAAAATGGGGCTGCGAAGTCAGGAGCCTGGGTCCCTGAGGAGGATAAGGGCTGGGGCCCTAGGTTCTAGAGAGAGCAAGGACTTAGGGGCTGGATTCCTAGGTCTGATTTTTTATTTTATTTTTTAAGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGCAGTATGATCATAGCTCACTGTACCCTCAAACTCTTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAATATTGGGATTACAGGTGAGTATCTTGTTCTTGAAGAGA
CCTACTCCATAGCGTAAGGCAATGGAACCAATATTGACCACATCCTTATGGTCCTCTGAGGATTACCCTCGACAATAACTGTTACCATGTATTGACCACCTACCACTTCCCAGCTACCTGCCCAGGTGTTTCCCTATATGGTTTAAAATCCTCCCAAAAGCCACAGGGAGTGGGAATCCTGTTCCTGTCTTACAGCTGAGGAAACAGGCATGGAACAGTTAAATGACATGCCCAAAGCAGCTCCTGAAATAAGACCTAGAACATAGCAGGTGCTCATTAGATATTTCTAGCATGGATGATGCCTGACTTCCAAATCCACATAGTCTTTTACTGCATTCTCTGGCTAGGATTCACTAGTTGATCCCTGAGGGTTTGTGGATTTTCTATGGAAATTCTTGAATTCTGTGTTTTTGGCTTGATAACCTTCAGAAATTACCACCTGCCAATTCCTGCAGATCTGGGCCACTGCCTCGTCACTGAGACCTGCCATGCGGTTTTGGGGCCTGCATCTGTGACCGTGCTTACCATGGCATTGCTGCCAGGGGCCACTGTTTGAACTGTCGTGGGCTAACGAGAAAAAGCAAAGGCCACCAGATAAGCAGAAGATGCTGTGAGCCAGGCCAAGGGGGTGTTGTGACATCATTGTCCCTAAGCACTGGCGAAATCAAATGGTCTCAGCAGAAGAAGGGGGCGGGTAGCTGAGTCACGCCTTGGCCAGGCAAACTTGCATGGACGTCCCTGTTGCCCTGAGTACCCCTCCACAAGAGCAGCAGAGATTGAGTTTTACGGAAACAATGTCACCTGTGTCCTTGTCAGTGTTGTTCATTTTAATTGTATTGGTTTTGCCGTCTATGGGCTTGGTTTGTAAATTTGCTTTGGTTTTATTGTATGAGCTGTAGTTGGAAGGAATTTTATATCCGTCCACATGTAAGTAACTTAACAATAAAGATAATTTGAAACCAAACACTGGGGTTCTTTGTGCAATTTTTTTTTTTTCAGTTTGTAAGGGATCTGTGCCTTTCATGAATGTAAGAAGCTCTGTGTTGCATCATTCATTCCTTCCTTCCTTCATTCAACCACAGACCTTTACTGACAGGCTGTGTGTGCCAGGCCCCTGCCAAGGTTCCCTGTTCTAGGGCCAGATTTCCCTCCCTGTGGCCCCAACCTCCCCCTTCTTCAAGACCTCCTCCCACGGGATCCTAGTACCTTGGAGATGTCCACCATGGAGTTCACTTGTTCCCGGAGCTTCCGGTGTTTCAGCCGCACCTGGCGGAACCTGTGGGAAGAAGTGGGGAGTCAGTTTTACAAGCCTGGTCCCTGAATGTAGCTGTAGCTCAGGGGAGGAATGAAGGGAGGAGAGGCACATGAAGAAACAAAACAAAGAAACAAAGTTGTCGAAGAGCTGAAAGAGTGGGAGGGGATGCACCCTGCCTCCCCACGAGCCCCCATCCCCAGTAGAAACCCAGGTACCCAGGTCCGCAGACACACCGAGATATGCGGAGACAAACCAGCACAGACACATAGAGTCATGCACGGTCAGATCCAGGTGAGACCTGGATGTTGAGTGAGACCACACCTGGGTGTCCTGACCTGGACAGGCATGGACATGCACACACACAGCCGTGCAGAGAGGTGACTTGGACATGGGTGCACATGGACACGTGTGCATACAAAGCGGCCCTCACGCGTTGATGGCGGCCAGCAGCTTGCGCTGATGCCTGCGGGCAGCATGAGACTCCTTCCTGCGAGTATGTTTGTAGAACATCCAGGCTTCTTGTAGCACTCGGGCAGCGGACTCCTTCATCTGGGGGTGGGTGGCACAGTGTCCGTGGAGATAGACCCTTACGGTTCTGGGAAGGCAGGGCTAGGGCTGGGACTCTTGGGTCCTAGGGGAAGCAGGGGCGCCTGGACTCCTGCTTCTTGGAAGAGGGGTGTCCCATGGGTGCCATATGCCCATCTCACCTCTTTGGTATACTGGATATCCATCATGAAGTTGTGCACGTGCTTCTCTGCCTTGTTAAACTCCAGCTTCCGGGCCACCACGGCCATCAGCAGGGCTGTGCAGCAGACACCCTGTGGGCACAGCAGGCACCGTGGCATGAGGCTGTGCCACCGACTCCCTCCTTGAACCCGCCCAACAGCCACAGACGGTAGGCACGACCATCCCCAGTTAGCAGACAAGCAAAGAGGCTCAGAGAGGAGAGCCAAGGTCCCAGCTCAGAGCGGTGGAGCTAGAATCATAAATCGCATACGTCCGAGCCCAAATTTGATGCATAGCATTCACACCCTCAGGGTGGCCTCTTGAATGAAGGATAGGATTGGAGGAGTGAGAGGAAGGCTGGGTTCTGAGCCAGGGGCAGGCCTCTGGGTCCTCAGTGCTCATGTGGTCAGCCATTGCACTGTGGAGGGCGACCATCCTTCTCCCACTCCCACAACTTCTTCCTAGCTCCAGCCCTGTCTTCTCTCTCCTGGACCGTCTCCAGCCTCCCACTCATCCTCCCCTAACCCCCTTGGTCCCCTCTAATCTCCCAGGCTTCCACTGGCCTGAACGTCTCAGCCTGGCTCCCAAGGCCTTCCAAGGTCTATGCCTCCCACCTGGACAACTCAGCCCTGGCTCCATGCTGCCTGCCCTCCCTGAGCACCTTCCTCCGAACACTCATTCTCCTCCCTTCCTTCTCCCAATGCTCCTGGCCCTTCAAGGCCTTGGCAATTCCTAGCTGCTTGTGGCATCTGCTCACCTGTCCCCAAGTTAGAAGGAATCTTCCTAGGAAGCATCCCCAACCCTATAGTTTCAGCTCTTGATCACTCAGAACAACTTCCAGTCACAAACGCTGGCTCCAGGGGACTGCCTGGGTTCCAAGCCCAGCTCTGAGCAAGTTATTTAATCTCTCAGTATTTCAGTGTCTCATCTGTGAAATGGCCTCACAGGGTTACTAGGTGGATTTCATGAATTACCCCTGGCAAGTGTGTAGGGCAGAGACTGGCACAGAGTATGTGCTCCGGAAAAGTAAGCTTTTATGGCCCAACCATGCCATGGAGCCTTTCTTCCAGGAGCAGGCTGTGAGCTCAAGTGCACATCACCCTATCTCTCTAGGTTTCTGTTTCTCCTTTTGTCAAATGAGGGAGGAGGTCCTGAGCGGTGCTGCAGGTCCCTAACTGAGTCTCTGCCCCTCTTCCCTTGCTCCAAAGACTCACCACTGGGGGAGTGGAGGTCACCACATCCTTCACCTGTGCACCTAGGGATTGGGGGATGAATATGTCCTTCCTAGGCCCACATCTGGGCTAGGTGCTGGTGGCTTAGGTCCCCGAGGGTGAGGGGAACCCGATCTTGTAGGGAGGTGAAGGCCAAGGCATTAGGTGCTAGTCTCTAGAGGGGGCCAGGGCTGGGTGGGAGGACCTGAGTGACTGGGTCTATGGAGGGAAGGAGGTGGATGTCAGGGTTCAGGAAGAGGCTGACTCAGGCTGCAGAGCCTCTGCCTCATCCTTGAGGGCAACAGGAGCTGGTGTGGGGTGGCTGGATGCCTGGCCACCCCTAGACCTGTTTACTGAGCACCTCCTGTGGGCTGGGCACTGTTGGAAGCACTTTACGTAGTTGGACCCATTTAATCATCTCAGCAAGCCCATGAGGAGCATCAGCATCCCCATTTTATAGATGAGGAAAGTGAGGCCCCGAGAGATCACGTGGCTCGCCTGAGCTCCCCAGCCAGGAAGTGGCAGCCGCAGGATTCGGACCCAGGTAGCCTGGCCCCACAGGTATGCACTTGATAACTGGACTCTACACCCTTGATGGAGGCTGGGAGACGATTTCCCAGTTCTGGAAGAAAATGGGGCTGCGAAGTCAGGAGCCTGGGTCCCTGAGGAGGATAAGGGCTGGGGCCCTAGGTTCTAGAGAGAGCAAGGACTTAGGGGCTGGATTCCTAGGTCTGATTTTTTATTTTATTTTTTAAGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGCAGTATGATCATAGCTCACTGTACCCTCAAACTCTTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAATATTGGGATTACAGGTGAGTATCTTGTTCTTGAAGAGA
Task1_train_27322
With a mutation on Chromosome 19 in gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Hearing loss, autosomal recessive 113
AGATGGAGTTTCACTCTTTTGCCCAGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCGACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGACTACAGGCATGAGCCACTGCGTCCGGCCATGAGCCACCACGCCCGGCCAGAGCCTATACTTTTAATAACAGGCATACCAATCAGACCCACGTCCACCAGGCTCTGGCTTAAATCCCTGACTTGTAGCCTCTCACTAACTGCTGTCAACAAACCTGAAGTAGGGTCCATATCATCTCTATTTTTTTGTTTGTTTTTGAAATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGCGATTCTCCTACCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCATGACCGGCTAACTTTTATTTTTTGTTTTTGCTTTTGTTTTTTGAGATAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCGCTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGTGCACACCACCACACCCAGCTAATTTTTTATATTTTTAGTACATACGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAGCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTTAGCCACCACACCCAGCTAACTTATATTTTTAATAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTTGCAAACTCCTCACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTATTTTTATTATTATTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATGACAGGCATGAGCCAGTGCACCCGGCCATCATCTCTATTTATCAGAATAATAAATGGAGACTCAACAAGGGACTGTCCCCAGCCCCACTTTGGGTAAGTGCAGAGCTGGTGTCAAAACTCAGCTCTCCTTGGCCCCAAAGCCTCCGAATACGCCCATTTGACAGAGAGGGGAAAACAAGGCCTCCGAAGTGGGAGAAAGAGAATGTGAACTTCTGAGCACTTTGCAGGAAGCCAACAAGAAGGAGAGCCCCAAAGAAAGCATGTGGCCATACAGTTTCCTGCCCTTCTGTCTGGGTTTGCACACAGAGCAGGGCTCAAATCCCCTCTCCCTGCAGGAACCCGGACAAGTGGGAGTCCCCACCTAGCTCATCTCCATCTGCAAAGGGGGGTCCTAAAGGTGCCCACTTTACAGGGTTGTTTTGCCATCCGCTGAGACAACACCTGTAGGTCCCCTGCACTGGGTGGGGCTGGGAAAGGTGCAGTCACCTTTTACTGATTTTCTTCCTTGGTGACTCCCAGGCTCTCTGAGGAGGCCACGGGCCTGGGTGGTTGGTAAGAACTACCCGAAAACCTTCCCCTACTTTTCCTCTCTTCTCCTCGGTGACCTGGTTCCTCTCCCAGTACCAAATCCAGGCCCTCGGCACAAAGAGGGTTAGGCGGCTGCCCCAGGAGGCCTGCCCAGGTCACGGCCTCTGGCCGGTGCCCGCCACACCCACCCTGGTACCCAAACCGGGCCCCAGATCCTTGGTGACTCGATCCCTCCAAATTCAGGTGATCTCCCCTGGCTCCAAATCACCAAACCCTCCCAGGTCCTGCGGCAGACGGAGCCGAGCCCCAACCAGGAAGGGAGTCCGAGCACTGGGACTTCAACGCCACCATCTCCAAGACTCGGTTTGGGGTGAAAGATGGCGCTGACTGGGTACAGCTGGCTGCTCCTCAGTGGTGAGCGAGAATGGCACCCCCCAGCACCTCAGCCCCCCGAGGACCCCAGGGAGGGGAGGGGACCCCCAGTCTGAGAGAGGGAAGGTGTGAGCAGAAGTCCAGCGTGCTAGGGAGGGAGGGCAGCCCTGCTTCACACCGGCAGTTTACCCCTCCAAGAGGCATCTGCATTGGGCAGGCTGGGGACAGCCACCCAGAGAGGTTTTCAGGGTGGGCTTTGGAGATTTCTAAGCCCAGGGCACAAGCCAGGACAAGGGAGCCGCTGTTGCTCCTTCATTCCTGCAGGTTTCTGTTTTATCAGCTATGGAAGCCTTGATGAGGCTAAACTCTTCCCAGCAGCTGTTTCTCCCGGAAGATGTAGCTTAGGGCAGTTGCCTTTCCCTTCTCAGCCTCTGTGTACCCACCTGTGAATGGGGCCTCACTGACAGGGTCATGTAAAGGTCATTATAAGCAGCACCACATATGCCGTGTGCCCGGAGCTGTTCTGAGAGCTTCTCATGGTTTAAAACCACCTATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTC
AGATGGAGTTTCACTCTTTTGCCCAGGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCGACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGTTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGACTACAGGCATGAGCCACTGCGTCCGGCCATGAGCCACCACGCCCGGCCAGAGCCTATACTTTTAATAACAGGCATACCAATCAGACCCACGTCCACCAGGCTCTGGCTTAAATCCCTGACTTGTAGCCTCTCACTAACTGCTGTCAACAAACCTGAAGTAGGGTCCATATCATCTCTATTTTTTTGTTTGTTTTTGAAATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAAGCGATTCTCCTACCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCATGACCGGCTAACTTTTATTTTTTGTTTTTGCTTTTGTTTTTTGAGATAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCGCTGCAACCTCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACTACAGGTGCACACCACCACACCCAGCTAATTTTTTATATTTTTAGTACATACGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAGCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTTAGCCACCACACCCAGCTAACTTATATTTTTAATAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTTGCAAACTCCTCACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTATTTTTATTATTATTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAATGATCCGCCTGCCTTGGCCTCCCGAAGTGCTGGGATGACAGGCATGAGCCAGTGCACCCGGCCATCATCTCTATTTATCAGAATAATAAATGGAGACTCAACAAGGGACTGTCCCCAGCCCCACTTTGGGTAAGTGCAGAGCTGGTGTCAAAACTCAGCTCTCCTTGGCCCCAAAGCCTCCGAATACGCCCATTTGACAGAGAGGGGAAAACAAGGCCTCCGAAGTGGGAGAAAGAGAATGTGAACTTCTGAGCACTTTGCAGGAAGCCAACAAGAAGGAGAGCCCCAAAGAAAGCATGTGGCCATACAGTTTCCTGCCCTTCTGTCTGGGTTTGCACACAGAGCAGGGCTCAAATCCCCTCTCCCTGCAGGAACCCGGACAAGTGGGAGTCCCCACCTAGCTCATCTCCATCTGCAAAGGGGGGTCCTAAAGGTGCCCACTTTACAGGGTTGTTTTGCCATCCGCTGAGACAACACCTGTAGGTCCCCTGCACTGGGTGGGGCTGGGAAAGGTGCAGTCACCTTTTACTGATTTTCTTCCTTGGTGACTCCCAGGCTCTCTGAGGAGGCCACGGGCCTGGGTGGTTGGTAAGAACTACCCGAAAACCTTCCCCTACTTTTCCTCTCTTCTCCTCGGTGACCTGGTTCCTCTCCCAGTACCAAATCCAGGCCCTCGGCACAAAGAGGGTTAGGCGGCTGCCCCAGGAGGCCTGCCCAGGTCACGGCCTCTGGCCGGTGCCCGCCACACCCACCCTGGTACCCAAACCGGGCCCCAGATCCTTGGTGACTCGATCCCTCCAAATTCAGGTGATCTCCCCTGGCTCCAAATCACCAAACCCTCCCAGGTCCTGCGGCAGACGGAGCCGAGCCCCAACCAGGAAGGGAGTCCGAGCACTGGGACTTCAACGCCACCATCTCCAAGACTCGGTTTGGGGTGAAAGATGGCGCTGACTGGGTACAGCTGGCTGCTCCTCAGTTGTGAGCGAGAATGGCACCCCCCAGCACCTCAGCCCCCCGAGGACCCCAGGGAGGGGAGGGGACCCCCAGTCTGAGAGAGGGAAGGTGTGAGCAGAAGTCCAGCGTGCTAGGGAGGGAGGGCAGCCCTGCTTCACACCGGCAGTTTACCCCTCCAAGAGGCATCTGCATTGGGCAGGCTGGGGACAGCCACCCAGAGAGGTTTTCAGGGTGGGCTTTGGAGATTTCTAAGCCCAGGGCACAAGCCAGGACAAGGGAGCCGCTGTTGCTCCTTCATTCCTGCAGGTTTCTGTTTTATCAGCTATGGAAGCCTTGATGAGGCTAAACTCTTCCCAGCAGCTGTTTCTCCCGGAAGATGTAGCTTAGGGCAGTTGCCTTTCCCTTCTCAGCCTCTGTGTACCCACCTGTGAATGGGGCCTCACTGACAGGGTCATGTAAAGGTCATTATAAGCAGCACCACATATGCCGTGTGCCCGGAGCTGTTCTGAGAGCTTCTCATGGTTTAAAACCACCTATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTC
Task1_train_27323
Gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B
ATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTCCTGGCCCGGCCCACACGGGGCGGGAGGCTGTGCGCCCCGATGGCAGCCTGGACATCCAGGGCATCCTGCCCCGGCACTCAGGCACCTACATCCTGCAGACCTTCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACA
ATGAGGGGCCGGGCAAGGTGGCTCACACCACTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTCCTGGCCCGGCCCACACGGGGCGGGAGGCTGTGCGCCCCGATGGCAGCCTGGACATCCAGGGCATCCTGCCCCGGCACTCAGGCACCTACATCCTGCAGACCTTCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCCCAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACA
Task1_train_27324
Gene CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B
AGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTCCTGGCCCGGCCCACACGGGGCGGGAGGCTGTGCGCCCCGATGGCAGCCTGGACATCCAGGGCATCCTGCCCCGGCACTCAGGCACCTACATCCTGCAGACCTTCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACAGAGTGGAAAATCACTCAGATATCACTTCAGGTGGGTGCCACTGCTCTAAATTCAGTCACCAGCTGTTTAGGGCCTTGACCCTCTACC
AGACCAGCCTGGTTAACATAGTAAAACCCCATCTCTACTAAAATACAAAAAATTAGCTAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTCACAGTGTGCCGAGACTGCACCACTGCACTCCAGCCTGGGCAACAAAGCAAGACTCCATCTCAAAAAAAAAAAACAACCCCAAACCACCTATGAGGGAGGCCCACACATGAACCGCACTTCATAGGGAGAAAACGAGGCTCAGAAAGGTGAAACCATTGGCCGCTGTCACACGGCCAGAGAGTGGCAGGACTGAGGGCTAGACCCAGAGACCCTCACTCCTAGCCACACTCTAACAGCCTGGAAAGTACCAGAAAGCTGGCCAGCCATGTCAGTCCTTTTGACGTGAGCACTGTCACAGCCGCCCGTTCCGGGCATTCAAACCACACGTCATTCAAACCCAAGCAGCCCCGACCAGCTCATCGGGCTTGGGGCTGATCTGCTTGGTTGAGAAGGAAAGGGGTGGAGTGTGTTCATCTTACCCCTGCTTTCCGCTGTAGGCGAGCTTGGAGAGGCAGAGGCAGAGCCCCAGACTGGGAGTCAGGACCCAGGGGGCAGGCCCTGACATCCTACGTGGGGCCATACAATTAGCTGGGCTGGATACGCAGCCGGATCTCGCGAGACTTAGTTTGGTGACTGTCACGATGGGAAAACCCTTTGGGTCCGGCTTAAAGCCGCAGGTCCTGTGGGCCGAGCACTTGCTTTGCACTTGCTGTATGCAAGATGTGATGCTAGATCCTTGGCACAGTCCATCAGACCCAATCCTCACAACACACGCCTCCCTCCCTCGGACTGAGTCCCTCCCTGGGACTGAGCTCCTGCATCTGACTAACATGTATTGGGCACTTACTGTATACCAGGCATTGTAAGCATGGTATGTATACAGAATCCTTACAACCTTACCAGGCAGGTAGACCTGTCATCCCCATGTGAGAGTTGGAAGAACAGAAACACAGAGAAAGACAGTGTACTCGAAGCCATGCAGATAAACTCCCAGAAAGATTAGGTGGCTGAGATGTTGAGAGTCAGAGTTGCAGGTTCAAATCCTGGTTTTGCCTGTCCTCATTTACACAGAGGACACTGGGCTGGGGACATGCCCCGAGCCTGAGTCTCTTCTTCTGTCAAATGGGGCGATTGATCAAACCTGCCTCATCCAACCCCTCTGACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTCGTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGCGTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTCCTGGCCCGGCCCACACGGGGCGGGAGGCTGTGCGCCCCGATGGCAGCCTGGACATCCAGGGCATCCTGCCCCGGCACTCAGGCACCTACATCCTGCAGACCTTCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTAGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACAGAGTGGAAAATCACTCAGATATCACTTCAGGTGGGTGCCACTGCTCTAAATTCAGTCACCAGCTGTTTAGGGCCTTGACCCTCTACC
Task1_train_27325
The following genetic variant occurs in CEACAM16, CEACAM16-AS1 (CEA cell adhesion molecule 16, tectorial membrane component| CEACAM16, CEACAM19 and PVR antisense RNA 1) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 4B
TCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACAGAGTGGAAAATCACTCAGATATCACTTCAGGTGGGTGCCACTGCTCTAAATTCAGTCACCAGCTGTTTAGGGCCTTGACCCTCTACCCGCCCCCACCCCACCACACAGACAGCTGAAATTCTGTGCAGCCAACTAGACTACCCAGTTATCTGACCCAGATGATGGGTATACACACACACACACACACACACACACACACACACACACACACAACTGAAGAATCACAGCCAATTGCTGGCAAATGGAGAAACAGCTGGGGAGGCATTGTCATCTTGCTTCTGTCCTAAAATGACCTGAGGGCTGGGGCAGTGCAGGCAGCTGGCATTTCAGAGCCATTGGGATCCTCAGGCGACATTTTCTCATCTTCCGGAGATGGTGGCTTTGAACATTAAGGCCTCATTAATTCTACCTCGGTTCCTTCCCAAGTGGCCATCAGCCCCCGGGGGACAGTGGGGAATGGTCGTTCCCTCCCTCCCACTAACAGGCTGGGTCTCATCCAAGGGGTGGATTTTCACCCAAAGCAGAAATGGCATCCCCAGAGGTAAGTGTGACTCCCGCTCCACTCATCTGGGGCTTTGGCAGCTGGTCTTGACAGGAGACAGGGGGATGGACCAGATGACCTCAGGCGCCACCCCAAGCCCTGTCTGTGCAGTCCAAGAAGGGGGGTGTCCAAGGTATGCAGGTATGTGCAGGGAGTGGATACAGTGCCCCCAAGGGCTTCTAGCACTGTCAGCAACTCTGTGGCAGGTGCTGGGAGAGACACAGAAGAAAAGGAGACGCCACCCTCCCTCCACCTTGGGAGACTAATCTGATGGAGGAGACAAGGCCTCTGTCCTTGGAGAGATGATCCTGGGACAGGGAAACATGGCTCCTTTATTCAAGGAATAGCTGCTCAAAGAGAAGAGGCAATGCCTCATCCTTCATGTCAGTAATGAGGGAGATATGACAACCCACCCTCAGTGAGCTCCTAGTCAGATGGAGGAGACACAGTCTGCACTTGGGGAGAAATTTCCTTCTGATGGGGAGACTTGGTCTCCAGGAGACATGGCCCTGTTTTTTGAGCATTCCTAGTCTGATGGGGTATCCACCTTTGGGGTACTCCTAATCTGATGGAGGAGTACAGGACCCCACTTTCTAGGAATTTCCAGTCTGATGGAATAGACATTTCCCTCTAACTTCCAGGGTCCCCAACTTGATTGGAAAAACTCAGCAACAATTTAGAATTTCTCAATCTGATGGAGGAAACAGGGCTGCCGCCTTGTAGGAATTTTCAATCTGATGGAGGAGACATGCTCTCACCCTCAAGAATCTTTCAATCTGATGGAGGAGCTATGGCTTACACATTCTGGGGTCTCTCGGTCTGACAGACACAAGTCCCAACCATCTCATGGGGAAGACATGGTCCCCATTTTCTGGGATTTCCACTCTGATAGGGGAGACATGGCCCCTATATTTTGGGAATTTCCAATCTGATGGAGGAGACATGACCCAAGCCTCTAGGGTCTTCCAGTTTGATGGGAGAGACACCTCTCAAAGTCTGGGAATTTGTAGTCTGATAGGGGAAACACAGACCCCAGCAGACACTACTGGGACCCAGAATCCACCTCCACCACCGCACAAGTCACCTCCTTCCTCAGT
TCAACAGGCAGTTGCAGACCGAGGTGGGCTACGGACACGTGCAGGTCCATGGTGAGACACCCCCCAACACCCGCCTCTGCCCCAGCTGGGCCTTCCCATCTCCTTCTCAATCCTTCTTTTTTTTAAAAAAAAAAAAAATCCAACAAATCATCAGGGAAACCATCAGGGAATAAGTTTCTAAAATAACCTCAAAATGCTCACCTCCTTCAAGATGGCCTCCAGGATTAGACCTGCCTCCTAAAACCATTCTTTGTCCCTCCGGCTGAGGGTGTGGGGGCCCAGCCACAATCCGGCCATGCCCCTTGTTGGGGGAAGGGAAGGCCCTCAGAGCAGGTGGTGTCCGGCCCCCTCCCCCTCTGTCTCTTGCCCCCACAGAGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACAGCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCCGAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCCCCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAGTGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTACTGTGAGTCCTCCTGGCCCCACTGGAGATACCCAGTGTCCAAACCTCATGGATGGGGAAACTGAGGCCAGGAGAGGGGGCCTAAGGGCACACAGCGAGTCAGCAGGCAAGCTGGGATTGGGGACCAGGGACCCCTCTTAAAGTGCACTTGCCCTCGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGGGGCCTAGGCGGGAGGATCACCTGAACCCAGAAGTTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACCAAAAAACATAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCCACTCAGGAGGCTGAGATGGGAGGATTCCTTGAGCCCCGGAGGCCGAGGTTGCAGGTGCAGTAAGCTATGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCAAGATGCTGTCTCAAAAAACAAACAAACAAAAAAAAACAACAACAACAAACAAAAAAAATACACTTGCCCCATATCCTAAAGGACTTCTACAGACCACCTTTACTATTGAATAATCCTTCAGTTAGGAGCAATATCTACAGAGAAAGGAAACAGGGCCAGTTGGTTTGAAAAGGGAGCAGGGGAGGGAATAGTGTAATGGGAGGGGACACAAAATTTAACAACATAACCAAAGCATGCAGTCGTTCCCAGGAGCAGCAGATGTGCAGTGTGGAATCCTGGGAAAATAAATCACCAAGGTACATGAGGACCCATGATGTAGAAAAACTTAGTGCCTACAATCCTAGAATCTTACAACCAGAGAATTCCAGACTTCAGAAGCACTGAATTCCAGACTCTGAGAATCTTAGAACCTCTAGACGCAGAGATTCTTAGAATCTTAGAATCTAACCCTGAAATCTTAGTCTAGAATCTTAGAAACATAGATTTCTAGAAGCTTAGAACCTTAGAACCTAGAAGCACCAATTCTTGAAGCCCTAGAATTCTACACTCTTAGAATGGCTTTGTCAGAAAAAAAAAATCATTTAGGCTTTTTTTATTTGTCAATGGAGCCATAGATTTCAAAAATACCTTGAAATATTATCTTGCCCAACACATTCTTTTTACAGGAGAGAAAGGTGAGATCCTCTTAGAGGGAGTGATTCTCAAGATCCTAGAACAAGTTAGAGTTAAGGCCAGAGCTTTTTTTCCCCTCCACTAGGCCAAGATATTCCCAGGGACCTAGCTTGGTGGAGAGAAAACCAGGGGTACCAACCTCCACTCCTCCTTCCCTCTACTGCCCCATCTATCTCCCTCCTGCCCCCACAGTTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATCAAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCGGGTCCTGCCCAGAGCCCGAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATCAGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACCCTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTGGTGAGTCACCCCCAGCCTGACCACCCCCCAGTCCCCATGGAGGCCTCATCAGGCTGCGAAGGTTAAGCCACCATTTGCCCAACAGAGAATTGGAACATGGTAGATTCACAGTTCATTCATGAGCTGTGACAAAGTGGCATATCAGGCAGATCTGTTTGCATCTGGGTCTAAAGAGAGACAGCCCGTGTCCTGTTCACCTAGAGAACAAATGGCAAACCATTGTGGGTTGACAGAGTGGAAAATCACTCAGATATCACTTCAGGTGGGTGCCACTGCTCTAAATTCAGTCACCAGCTGTTTAGGGCCTTGACCCTCTACCCGCCCCCACCCCACCACACAGACAGCTGAAATTCTGTGCAGCCAACTAGACTACCCAGTTATCTGACCCAGATGATGGGTATACACACACACACACACACACACACACACACACACACACACACAACTGAAGAATCACAGCCAATTGCTGGCAAATGGAGAAACAGCTGGGGAGGCATTGTCATCTTGCTTCTGTCCTAAAATGACCTGAGGGCTGGGGCAGTGCAGGCAGCTGGCATTTCAGAGCCATTGGGATCCTCAGGCGACATTTTCTCATCTTCCGGAGATGGTGGCTTTGAACATTAAGGCCTCATTAATTCTACCTCGGTTCCTTCCCAAGTGGCCATCAGCCCCCGGGGGACAGTGGGGAATGGTCGTTCCCTCCCTCCCACTAACAGGCTGGGTCTCATCCAAGGGGTGGATTTTCACCCAAAGCAGAAATGGCATCCCCAGAGGTAAGTGTGACTCCCGCTCCACTCATCTGGGGCTTTGGCAGCTGGTCTTGACAGGAGACAGGGGGATGGACCAGATGACCTCAGGCGCCACCCCAAGCCCTGTCTGTGCAGTCCAAGAAGGGGGGTGTCCAAGGTATGCAGGTATGTGCAGGGAGTGGATACAGTGCCCCCAAGGGCTTCTAGCACTGTCAGCAACTCTGTGGCAGGTGCTGGGAGAGACACAGAAGAAAAGGAGACGCCACCCTCCCTCCACCTTGGGAGACTAATCTGATGGAGGAGACAAGGCCTCTGTCCTTGGAGAGATGATCCTGGGACAGGGAAACATGGCTCCTTTATTCAAGGAATAGCTGCTCAAAGAGAAGAGGCAATGCCTCATCCTTCATGTCAGTAATGAGGGAGATATGACAACCCACCCTCAGTGAGCTCCTAGTCAGATGGAGGAGACACAGTCTGCACTTGGGGAGAAATTTCCTTCTGATGGGGAGACTTGGTCTCCAGGAGACATGGCCCTGTTTTTTGAGCATTCCTAGTCTGATGGGGTATCCACCTTTGGGGTACTCCTAATCTGATGGAGGAGTACAGGACCCCACTTTCTAGGAATTTCCAGTCTGATGGAATAGACATTTCCCTCTAACTTCCAGGGTCCCCAACTTGATTGGAAAAACTCAGCAACAATTTAGAATTTCTCAATCTGATGGAGGAAACAGGGCTGCCGCCTTGTAGGAATTTTCAATCTGATGGAGGAGACATGCTCTCACCCTCAAGAATCTTTCAATCTGATGGAGGAGCTATGGCTTACACATTCTGGGGTCTCTCGGTCTGACAGACACAAGTCCCAACCATCTCATGGGGAAGACATGGTCCCCATTTTCTGGGATTTCCACTCTGATAGGGGAGACATGGCCCCTATATTTTGGGAATTTCCAATCTGATGGAGGAGACATGACCCAAGCCTCTAGGGTCTTCCAGTTTGATGGGAGAGACACCTCTCAAAGTCTGGGAATTTGTAGTCTGATAGGGGAAACACAGACCCCAGCAGACACTACTGGGACCCAGAATCCACCTCCACCACCGCACAAGTCACCTCCTTCCTCAGT
Task1_train_27326
Given this context: Chromosome 19, gene APOE (apolipoprotein E) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
CTATCCCTGGGGGAGGGGGCGGGACAGGGGGAGCCCTATAATTGGACAAGTCTGGGATCCTTGAGTCCTACTCAGCCCCAGCGGAGGTGAAGGACGTCCTTCCCCAGGAGCCGGTGAGAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGGAGCCAGGGGCAGCGACACGGTAGCTAGCCGTCGATTGGAGAACTTTAAAATGAGGACTGAATTAGCTCATAAATGGAACACGGCGCTTAACTGTGAGGTTGGAGCTTAGAATGTGAAGGGAGAATGAGGAATGCGAGACTGGGACTGAGATGGAACCGGCGGTGGGGAGGGGGTGGGGGGATGGAATTTGAACCCCGGGAGAGGAAGATGGAATTTTCTATGGAGGCCGACCTGGGGATGGGGAGATAAGAGAAGACCAGGAGGGAGTTAAATAGGGAATGGGTTGGGGGCGGCTTGGTAAATGTGCTGGGATTAGGCTGTTGCAGATAATGCAACAAGGCTTGGAAGGCTAACCTGGGGTGAGGCCGGGTTGGGGCCGGGCTGGGGGTGGGAGGAGTCCTCACTGGCGGTTGATTGACAGTTTCTCCTTCCCCAGACTGGCCAATCACAGGCAGGAAGATGAAGGTTCTGTGGGCTGCGTTGCTGGTCACATTCCTGGCAGGTATGGGGGCGGGGCTTGCTCGGTTCCCCCCGCTCCTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTA
CTATCCCTGGGGGAGGGGGCGGGACAGGGGGAGCCCTATAATTGGACAAGTCTGGGATCCTTGAGTCCTACTCAGCCCCAGCGGAGGTGAAGGACGTCCTTCCCCAGGAGCCGGTGAGAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGGAGCCAGGGGCAGCGACACGGTAGCTAGCCGTCGATTGGAGAACTTTAAAATGAGGACTGAATTAGCTCATAAATGGAACACGGCGCTTAACTGTGAGGTTGGAGCTTAGAATGTGAAGGGAGAATGAGGAATGCGAGACTGGGACTGAGATGGAACCGGCGGTGGGGAGGGGGTGGGGGGATGGAATTTGAACCCCGGGAGAGGAAGATGGAATTTTCTATGGAGGCCGACCTGGGGATGGGGAGATAAGAGAAGACCAGGAGGGAGTTAAATAGGGAATGGGTTGGGGGCGGCTTGGTAAATGTGCTGGGATTAGGCTGTTGCAGATAATGCAACAAGGCTTGGAAGGCTAACCTGGGGTGAGGCCGGGTTGGGGCCGGGCTGGGGGTGGGAGGAGTCCTCACTGGCGGTTGATTGACAGTTTCTCCTTCCCCAGACTGGCCAATCACAGGCAGGAAGATGAAGGTTCTGTGGGCTGCGTTGCTGGTCACATTCCTGGCAGGTATGGGGGCGGGGCTTGCTCGGTTCCCCCCGCTCCTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGAAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTA
Task1_train_27327
A mutation found in APOE (apolipoprotein E) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Cardiovascular phenotype
GAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGGAGCCAGGGGCAGCGACACGGTAGCTAGCCGTCGATTGGAGAACTTTAAAATGAGGACTGAATTAGCTCATAAATGGAACACGGCGCTTAACTGTGAGGTTGGAGCTTAGAATGTGAAGGGAGAATGAGGAATGCGAGACTGGGACTGAGATGGAACCGGCGGTGGGGAGGGGGTGGGGGGATGGAATTTGAACCCCGGGAGAGGAAGATGGAATTTTCTATGGAGGCCGACCTGGGGATGGGGAGATAAGAGAAGACCAGGAGGGAGTTAAATAGGGAATGGGTTGGGGGCGGCTTGGTAAATGTGCTGGGATTAGGCTGTTGCAGATAATGCAACAAGGCTTGGAAGGCTAACCTGGGGTGAGGCCGGGTTGGGGCCGGGCTGGGGGTGGGAGGAGTCCTCACTGGCGGTTGATTGACAGTTTCTCCTTCCCCAGACTGGCCAATCACAGGCAGGAAGATGAAGGTTCTGTGGGCTGCGTTGCTGGTCACATTCCTGGCAGGTATGGGGGCGGGGCTTGCTCGGTTCCCCCCGCTCCTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTA
GAAGCGCAGTCGGGGGCACGGGGATGAGCTCAGGGGCCTCTAGAAAGAGCTGGGACCCTGGGAACCCCTGGCCTCCAGGTAGTCTCAGGAGAGCTACTCGGGGTCGGGCTTGGGGAGAGGAGGAGCGGGGGTGAGGCAAGCAGCAGGGGACTGGACCTGGGAAGGGCTGGGCAGCAGAGACGACCCGACCCGCTAGAAGGTGGGGTGGGGAGAGCAGCTGGACTGGGATGTAAGCCATAGCAGGACTCCACGAGTTGTCACTATCATTTATCGAGCACCTACTGGGTGTCCCCAGTGTCCTCAGATCTCCATAACTGGGGAGCCAGGGGCAGCGACACGGTAGCTAGCCGTCGATTGGAGAACTTTAAAATGAGGACTGAATTAGCTCATAAATGGAACACGGCGCTTAACTGTGAGGTTGGAGCTTAGAATGTGAAGGGAGAATGAGGAATGCGAGACTGGGACTGAGATGGAACCGGCGGTGGGGAGGGGGTGGGGGGATGGAATTTGAACCCCGGGAGAGGAAGATGGAATTTTCTATGGAGGCCGACCTGGGGATGGGGAGATAAGAGAAGACCAGGAGGGAGTTAAATAGGGAATGGGTTGGGGGCGGCTTGGTAAATGTGCTGGGATTAGGCTGTTGCAGATAATGCAACAAGGCTTGGAAGGCTAACCTGGGGTGAGGCCGGGTTGGGGCCGGGCTGGGGGTGGGAGGAGTCCTCACTGGCGGTTGATTGACAGTTTCTCCTTCCCCAGACTGGCCAATCACAGGCAGGAAGATGAAGGTTCTGTGGGCTGCGTTGCTGGTCACATTCCTGGCAGGTATGGGGGCGGGGCTTGCTCGGTTCCCCCCGCTCCTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGGCACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTA
Task1_train_27328
This variant affects the gene APOE (apolipoprotein E) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; APOE2 VARIANT
CTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCC
CTCCCCCTCTCATCCTCACCTCAACCTCCTGGCCCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCAGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCC
Task1_train_27329
A variant affecting Chromosome 19, within the gene APOE (apolipoprotein E), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Lipoprotein glomerulopathy
CCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGG
CCCATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCCTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGG
Task1_train_27330
This mutation occurs in APOE (apolipoprotein E) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hyperlipoproteinemia, type III, due to APOE2
CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCG
CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTCAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCG
Task1_train_27331
Consider this mutation in APOE (apolipoprotein E) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Familial type 3 hyperlipoproteinemia
CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCG
CATTCAGGCAGACCCTGGGCCCCCTCTTCTGAGGCTTCTGTGCTGCTTCCTGGCTCTGAACAGCGATTTGACGCTCTCTGGGCCTCGGTTTCCCCCATCCTTGAGATAGGAGTTAGAAGTTGTTTTGTTGTTGTTGTTTGTTGTTGTTGTTTTGTTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTCCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTGAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCG
Task1_train_27332
The gene APOE (apolipoprotein E) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; HYPERLIPOPROTEINEMIA, TYPE IV/V, DUE TO APOE2-DUNEDIN
CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAA
CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACTGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAA
Task1_train_27333
This alteration occurs within gene APOE (apolipoprotein E) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; APOE2-DUNEDIN
CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAA
CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACATGCCACCACACCCGACTAACTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACTGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAA
Task1_train_27334
This variant affects gene APOE (apolipoprotein E) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; APOE4 VARIANT
TCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAAGAGAAGGGAGCGGCTCTTCTGTCGGAGTCTGCACCAGGCCCATGCTGAGACGAGAGCTGGCGCTCAGAGAGGGGAAGCTTGGATGGAAGCCCAGGAGCCGCCGGCACTCTCTTCTCCTCCCACCCCCTCAGTTCTCAGA
TCTGCCCGTTTCGATCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCACCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAAGAGAAGGGAGCGGCTCTTCTGTCGGAGTCTGCACCAGGCCCATGCTGAGACGAGAGCTGGCGCTCAGAGAGGGGAAGCTTGGATGGAAGCCCAGGAGCCGCCGGCACTCTCTTCTCCTCCCACCCCCTCAGTTCTCAGA
Task1_train_27335
This mutation occurs in APOE (apolipoprotein E) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; APOE4(+)
TTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCAGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAAGAGAAGGGAGCGGCTCTTCTGTCGGAGTCTGCACCAGGCCCATGCTGAGACGAGAGCTGGCGCTCAGAGAGGGGAAGCTTGGATGGAAGCCCAGGAGCCGCCGGCACTCTCTTCTCCTCCCACCCCCTCAGTTCTCAGAGACGGGGAGGAGGGTTCCCACCAACGGGGGACAGGCTGAGACTTGAGCTTGTATCTCCTGGGCCA
TTAGAGGTTTCTAATGCATTGCAGGCAGATAGTGAATACCAGACACGGGGCAGCTGTGATCTTTATTCTCCATCACCCCCACACAGCCCTGCCTGGGGCACACAAGGACACTCAATACATGCTTTTCCGCTGGGCGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAACACCAGCCTGGGCAACATAGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCCACACACCTGTGCTCTCAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGAAGGTCAAGGTTGCAGTGAACCATGTTCAGGCCGCTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTTTATAAATACATAATGCTTTCCAAGTGATTAAACCGACTCCCCCCTCACCCTGCCCACCATGGCTCCAAAGAAGCATTTGTGGAGCACCTTCTGTGTGCCCCTAGGTACTAGATGCCTGGACGGGGTCAGAAGGACCCTGACCCACCTTGAACTTGTTCCACACAGGATGCCAGGCCAAGGTGGAGCAAGCGGTGGAGACAGAGCCGGAGCCCGAGCTGCGCCAGCAGACCGAGTGGCAGAGCGGCCAGCGCTGGGAACTGGCACTGGGTCGCTTTTGGGATTACCTGCGCTGGGTGCAGACACTGTCTGAGCAGGTGCAGGAGGAGCTGCTCAGCTCCCAGGTCACCCAGGAACTGAGGTGAGTGTCCCCATCCTGGCCCTTGACCCTCCTGGTGGGCGGCTATACCTCCCCAGGTCCAGGTTTCATTCTGCCCCTGTCGCTAAGTCTTGGGGGGCCTGGGTCTCTGCTGGTTCTAGCTTCCTCTTCCCATTTCTGACTCCTGGCTTTAGCTCTCTGGAATTCTCTCTCTCAGCTTTGTCTCTCTCTCTTCCCTTCTGACTCAGTCTCTCACACTCGTCCTGGCTCTGTCTCTGTCCTTCCCTAGCTCTTTTATATAGAGACAGAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTTCTGGGCTCAAGCGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCTTGCCCGGCCTCCTAGCTCCTTCTTCGTCTCTGCCTCTGCCCTCTGCATCTGCTCTCTGCATCTGTCTCTGTCTCCTTCTCTCGGCCTCTGCCCCGTTCCTTCTCTCCCTCTTGGGTCTCTCTGGCTCATCCCCATCTCGCCCGCCCCATCCCAGCCCTTCTCCCCGCCTCCCACTGTGCGACACCCTCCCGCCCTCTCGGCCGCAGGGCGCTGATGGACGAGACCATGAAGGAGTTGAAGGCCTACAAATCGGAACTGGAGGAACAACTGACCCCGGTGGCGGAGGAGACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGGCGCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCCGCCTGGTGCAGTACCGCGGCGAGGTGCAGGCCATGCTCGGCCAGAGCACCGAGGAGCTGCGGGTGCGCCTCGCCTCCCACCTGCGCAAGCTGCGTAAGCGGCTCCTCCGCGATGCCGATGACCTGCAGAAGCGCCTGGCAGTGTACCAGGCCGGGGCCCGCGAGGGCGCCGAGCGCGGCCTCAGCGCCATCCGCGAGCGCCTGGGGCCCCTGGTGGAACAGGGCCGCGTGCGGGCCGCCACTGTGGGCTCCCTGGCCGGCCAGCCGCTACAGGAGCGGGCCCAGGCCTGGGGCGAGCGGCTGCGCGCGCGGATGGAGGAGATGGGCAGCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGGCGGAGGTGCGCGCCAAGCTGGAGGAGCAGGCCCAGCAGATACGCCTGCAGGCCGAGGCCTTCCAGGCCCGCCTCAAGAGCTGGTTCGAGCCCCTGGTGGAAGACATGCAGCGCCAGTGGGCCGGGCTGGTGGAGAAGGTGCAGGCTGCCGTGGGCACCAGCGCCGCCCCTGTGCCCCGCGACAATCACTGAACGCCGAAGCCTGCAGCCATGCGACCCCACGCCACCCCGTGCCTCCTGCCTCCGCGCAGCCTGCAGCGGGAGACCCTGTCCCCGCCCCAGCCGTCCTCCTGGGGTGGACCCTAGTTTAATAAAGATTCACCAAGTTTCACGCATCTGCTGGCCTCCCCCTGTGATTTCCTCTAAGCCCCAGCCTCAGTTTCTCTTTCTGCCCACATACTGGCCACACAATTCTCAGCCCCCTCCTCTCCATCTGTGTCTGTGTGTATCTTTCTCTCTGCCCTTTTTTTTTTTTTTAGACGGAGTCTGGCTCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCGATTCTGCTGCCTCAGTAGCTGGGATTACAGGCTCACACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGCTTTCACCATGTTGGCCAGGCAGGTCTCAAACTCCTGACCAAGTGATCCACCCGCCGGCCTCCCAAAGTGCTGAGATTACAGGCCTGAGCCACCATGCCCGGCCTCTGCCCCTCTTTCTTTTTTAGGGGGCAGGGAAAGGTCTCACCCTGTCACCCGCCATCACAGCTCACTGCAGCCTCCACCTCCTGGACTCAAGTGATAAGTGATCCTCCCGCCTCAGCCTTTCCAGTAGCTGAGACTACAGGCGCATACCACTAGGATTAATTTGGGGGGGGGGGTGGTGTGTGTGGAGATGGGGTCTGGCTTTGTTGGCCAGGCTGATGTGGAATTCCTGGGCTCAAGCGATACTCCCACCTTGGCCTCCTGAGTAGCTGAGACTACTGGCTAGCACCACCACACCCAGCTTTTTATTATTATTTGTAGAGACAAGGTCTCAATATGTTGCCCAGGCTAGTCTCAAACCCCTGGGCTCAAGAGATCCTCCGCCATCGGCCTCCCAAAGTGCTGGGATTCCAGGCATGGGGCTCCGAGCCCGGCCTGCCCAACTTAATAATACTTGTTCCTCAGAGTTGCAACTCCAAATGACCTGAGATTGGTGCCTTTATTCTAAGCTATTTTCATTTTTTTTCTGCTGTCATTATTCTCCCCCTTCTCTCCTCCAGTCTTATCTGATATCTGCCTCCTTCCCACCCACCCTGCACCCCATCCCACCCCTCTGTCTCTCCCTGTTCTCCTCAGGAGACTCTGGCTTCCTGTTTTCCTCCACTTCTATCTTTTATCTCTCCCTCCTACGGTTTCTTTTCTTTCTCCCCGGCCTGCTTGTTTCTCCCCCAACCCCCTTCATCTGGATTTCTTCTTCTGCCATTCAGTTTGGTTTGAGCTCTCTGCTTCTCCGGTTCCCTCTGAGCTAGCTGTCCCTTCACCCACTGTGAACTGGGTTTCCCTGCCCAACCCTCATTCTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGCCTGGAGTGCAGTGGTGCAATCTTGGTTCACTGCAACCTCCACTTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGTCCCACCACACCCGACTAATTTTTGTATTTTTGGTAGAGACAAGGCTTCGGCATTGTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAAGTAATCTGCCTGCCTCACCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCACCCGGACCATCCCTCATTCTCCATCCTTTCCTCCAGTTGTGATGTCTACCCCTCATGTTTCCCAACAAGCCTACTGGGTGCTGAATCCAGGCTGGGAAGAGAAGGGAGCGGCTCTTCTGTCGGAGTCTGCACCAGGCCCATGCTGAGACGAGAGCTGGCGCTCAGAGAGGGGAAGCTTGGATGGAAGCCCAGGAGCCGCCGGCACTCTCTTCTCCTCCCACCCCCTCAGTTCTCAGAGACGGGGAGGAGGGTTCCCACCAACGGGGGACAGGCTGAGACTTGAGCTTGTATCTCCTGGGCCA
Task1_train_27336
Given this context: Chromosome 19, gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; APOLIPOPROTEIN C-II (PARIS)
AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTA
AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTGTGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTA
Task1_train_27337
This variant affects the gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Familial apolipoprotein C-II deficiency
AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTA
AGGATCCCTTGAGCCCAGGAGTTTGAGGATGCAGTGAGCTGTGATCTTGCCACCGTGTTCCAGCCTGGGTGACAGAGAAACCCCATTTCTAAAAAAGAGAAAGAAAAAGGGATAGGTACAATGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTTACCAGCATGGTGAAACCGCATCTATACTAAAAATACAAAAATTGGCCGGGTGTGGTAGCATATGCCTGTAATCCCAGCTATTCCAGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTGTGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTA
Task1_train_27338
This sequence variant lies in APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Familial apolipoprotein C-II deficiency
TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAG
TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACCGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAG
Task1_train_27339
This variant affects the gene APOC2, APOC4-APOC2 (apolipoprotein C2| APOC4-APOC2 readthrough (NMD candidate)) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; APOLIPOPROTEIN C-II (WAKAYAMA)
TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACTGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAG
TTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCCAGATCGTGCCACTGTACTCTAGCCTGGGTGACAGAGCAAGACTCAGTCTTGGCGGAAAAAAAGAATGAAAAAATTTAAAAAACTAAAAAAGAACTGTAGGCTGGGCGTGGTGGCTTACACTTGTAATCCAAACGCTTTGGGAGGCCAAGGCAAACGGATCACTTGATGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGACAGGCATGGTGGTGCATGCTTGTATTTCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTCGAACCCGGAAGACAGAGGTTGCGGTGAGCCAAAATTGCGCCATCGCACTCCAGCCTGGGCGAGAGAACAAGACCTTGTCTTGGAAAAAAAAAAAGAATTGTAGACCATTTGCTTGTGTTCTTTCTCCGGGGATCAGATCTCACCCTCTTTCTGCCGTACTTCCTCATCTCCTACGTGTGGATGATGATATTGTGCCCTGTGCATGTTCTTCGTCACCAAAAGTGCCTCTCTCATAGAGCAGGTGAGAACTCAGTGAGGAGATGCAGGGACATGAGGTCTGACTTAGGGCAGAGCCCTAAGGTAACACATTTGATCTACTGTAGGTCCTTAATGGTGTCTGCAGAGCACCTCCCTGCACTGACTCAGCCTTAGCAAAGGGCAGAGGCTTTGCTGTGTTCCCTGCTGGGCCCAGAACTGTTTAGGTGCTCAAGAAAGCCTTCTAGGCTGGGCTCAGTGGCTCACACCTGTACTCCCAGCACCCTGGGGAGGCCGAGATGGGAGGATCGCTTGAGCCCAGGAGTTCCAGACCAGCCTGGGCAACAAAACAAGTCTCCCATCTCTACAAAAGAATAAAAATTAGCAGCTGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGGTGGGGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGAAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCATCTCTACTAAAAATACAAAATATTAGCCGGGCATGGTGGCAGGTGCTTGTGATTCCAGCTCCTTGGGAGGCTGAGGCAGAAGAATTGCTAGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGAACACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAATACGAAAACAAAAATCAGCCGGGTGGTGGCGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGGGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCATCTCAAAAAAGAAAAAAATAATAATTAAAATGTTAAAATCAGGAGTAGAATCACAGAATGTTGGAAAGTGAGGCCCAAGAAGGGGGCTGTGTCCAAGTCCATGCATGGGAAACTTGACTGGGACACCGAGCTCACACAGAGCAGGATCTCAGTCCCCCCCACCAGAGTGGGGCGTGACCACAGGAACAGCCGCCTCCAGTCAGCCTGCCACATGACACCCCCTCAATGTTCCAGGTCTCTGGACACTATGGGCACACGACTCCTCCCAGCTCTGTTTCTTGTCCTCCTGGTATTGGGATTTGGTGAGTGTGGGCTTCCGGGGAGGGAAGCCTTGGGGAGGGGAATGAGCTCCAAGCATCTTCCCAGCCCAGGCCCTTCTTACCTCTGCCTCTGCCCTCTCCTCTTCTTCCTTCCTCCTTTCCCCCTGCTGCAGCCCCACGGGCTCTCCTGACACACTCTCCCCCTGCAGAGGTCCAGGGGACCCAACAGCCCCAGCAAGATGAGATGCCTAGCCCGACCTTCCTCACCCAGGTGAAGGAATCTCTCTCCAGTTACCGGGAGTCAGCAAAGACAGCCGCCCAGAACCTGTACGAGAAGACATACCTGCCCGCTGTAGATGAGAAACTCAGGTAGCACCTGCCCCTGGAGAAATGGGGTCTGGCCCATACCACCGACTGCATCCAGGACCCAGAAGTTCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCGTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGACCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCTAACCATCTGTGCTTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAGCACTTACACAGGCATTTTTACTGACCAAGTTCTTTCTGTGCTGAAGGGAGAGGAGTAACAGCCAGACCCCCCATCAGTGGACAAGGGGAGAGTCCCCTACTCCCCTGATCCCCCAGGTTCAGACTGAGCTCCCCCTTCCCAGTAGCTCTTGCATCCTCCTCCCAACTCTAGCCTGAATTCTTTTCAATAAAAAATACAATTCAAGTTGCTTCTCATGGATGGCACTGCTTTTCTGAGGACTCAAGGGCCAAGATGGAGGGGCTGACTCAGTCCAGCCAACATTTAATGAGCACCTACTTTATGTATGGAGCTCTAACCCATGGGTCCATGGGAATAAAGCAGTGAATAGTAACAATAAATAATCGTAACAGCAATTAGAGACTAATCTTTATTGAAGTCCGGCTTTCTCTCTTTTATTTTTTTATTTTTTGAGACAGGGTTTCACTCTGTCACCCAGGCTGGACAGCAGTGGTGCAATCTCGGCTCACTGCACCCTCCGCCTCCCAGGTTCCAGCGATTCTGTGTGCCTCAGCCTCTGGAGTAGCTGGGATTATGGGCATGTGCCACTGTGCACGGCTAATGTTTGTATTTTTAGTAGGGTTTTGCCAGTTGGCTAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTACTGGGGTGACAGGCATGAGCCACCGCGCCATGCCAAAATCCAGCCTTCTCATTTGTAAAATAACAAATCATAGACACAGCTAGTCCACAGTGGCCTCTGACAGTCTCCAGTTGTTAACGGTGAATGGTGTCCAGGTTTTTGGCGTCCTGAACAAAGAACTGGACAAAACGCACAAACAAAGCAAGGAAGGAATGAAGGGATTTATTGAAAACGAACATACACTAAACAGTGTGGGAGCGGGCCCAAGCATATGGGTTCAAAAGCCCTGTTACAGAATTTTTGGGAGTTTAAATTCCCCCTAGAGGATTCCCCTTCCACTGGTTACTTCTGGTACACCCTATGTAAATGGAGAGGATGAAGAAAAGTTACAAAGTCATTTATGGCCTACCGGAGAGGATGTTTCCTGTTATAGCTGAAGTGAATTGGCCTTATGTTCCCTGCCTCCCTATTTTCCTGCCTTACAGTTGCTGGACTGACACATTTTTTATTTTATTTATTTTGTTTTGAGATAAGGTCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGTGAGATCTTGGCTTACTGTAGCCTTGACCTTTTGGGCTCAAGAGATCCTCCCATCTCAGCCTCCCAAGTAGTTGGGACTAGGGATGCCCACTGCCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGTCAAGTTGCCTAGGCTAGTCTCCAATTCCTGGGCTCAAGCGATCTGCCCACCTTGCCCTTCCAAAGTGTTGGGATTACGGGTGTGAACCACCGCACCAGGCCTGGGCTGACACTTTAAACGTGCCATTGCAATCAGTGTATAATGGTCCCGTGGCAGAGGGAGAATGGTGCCCAAGTCAGTACTTCTTGGCTGGGACCCAAGAAGACAAACCTCTAGGGCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGTTGGCTGAGGTGGGCAGATCATCTGAG
Task1_train_27340
Here is a genetic alteration in EXOC3L2 (exocyst complex component 3 like 2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Meckel-like syndrome
AGGGTGCATTCCTAGAGGATCTGCTGGGTCAAGCGCCCAGTGTTTGTGATTTGGGCAGAAAGTGCTTGGTCTGGACTGTTCTCCATTCGGCAATGGAAGAACACAGACTGCTACAATGATAGGAAATGGGAATGGCCAGGCAAGGTGGCTCATGCTTGTAATGCCAGCATTTTGGGAAGCTGAGGCAGGAGCATCACTTGAGCCTGGGAGTCCGAGACCAGCCTGGGCAACATAGAGAGACCTCCATCTCTTTTATTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGACGGGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTTTTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTGAGATGAACTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTGACTCCCATCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGTAGTGGCGCGATCTCAGCTCGCTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTTCGGAGTAGCTGGGACTACAGGTGCCCACCACCAAGCCCGGCTAATTTTTTTGTATTCTTAGTAGAGACAAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGTGTGAGCCACGATGCCTGGCCCCCATCTCTCTCTCTTTTTTTTTAGTTAAACTAATCAAAAAGGATAAAAAGGCAAAAAAAAAATCTGTCATTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCTCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCAAAATCTATCATTCTTAGAGTCTTGAGTCCGGCGTCTAGGATTCTGTAATTCGAACACTCCAATATTCGGATGCTCTGTGGTGCTATGGCTGTTTCAAGGACTCCCAGATTTTATGCGTCTAAGGTCCCATGCTCAGACTCCCCTGAGTCAGTTCTGCAATCCCCACCCAGGATCCGGGCATCCCAGGTCAGCTTCCACCTTGGATTGGTCCTCCCTCCATCACACCATGGATGCCCTCACCTCAGTGGGGGGCCGCAGTTGACCAGGGCGATGGTCTTGCTGATATAGGTGTCAGGTAGCATCTCCCGGACTGCTGGGTTCTCATGGAATCGCTCCACACGCTGCTGGAAGCTGGTGGGAGGAAAGGGGACAGATAGGGCGCCACTGGGTCAGGGTCCCTCGTGGGCACCCAGCCTGCCAAAGCCACCATCCCTGCGGTGGCACTCTACCTGTCCTCAGGTGACTCCCTCTCATCTCTCCTCTCTCTATTGGATCCCAGGCCCTGATGCCCAACCCCCAGCAGAGCTAACCTGTGCTCCCAGGTTCCCCTACCTCTGCAGGAACTCTGCCAGCCCGCCTAGGCAGCAGTGGGCCATCCGCTCCCCAAACTCCTGGCTGATGCGGGGTGCTCGCTCTGTGTGCTCTTCCAGCAGCTGTGAGGTCCAGGGCGACAAGAAGAGGTGAGGAGGGGCAAGGTCCCACTTTCCATCCAGCCCATCCCCCAGCCTCCCTCCACCTCCTACCTCACACACATCCTGGGCCAGGCTGCTGGGCTGGTCCTCCAGGCTCCCCCAGTGCTCTTCGTCCTCCTGCAGCACACGGAGAAGGGCAGCCCGGGTCTGAGCCTACAGTAGGGAGAGGGGAGACAGGCAGGAGTTGGGGGCGGCCTGGAGGTCTTTTTTTTTATCTCTTTCTCCCACCACAATCCCCTAGCCCTTAACCCCAAGCAGTTCTGGATTCTACCTATGAGCTTGTCAAGGTGATGCTGGGGAGGGAGGCTGAGCCAGAAAACTTCTGCAGCCCTTCCCACTCCTAACTCTGTGGTTTGGAACTTCATATTAAAAGTCTGGTTTGGCCAAGCGCGATGGCTCACACATGTAATCTCTTTGGGAGGCTGAGGTTGGCGGATCACCTAAGGTCAACAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCGTGTCTGTAATCCCAGCTACTCAGGAGGCAGAGGCAGGAGAATTGCTTCAACCTGGGAGACAGAGGTTGCAGTGAGTGGAGATCATGCCATTGCACTCCCGCCTGGGCAACAGGGTGAGACTCCAACTCAAAAATAAAAATAAAATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGACGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAATAAATTAAAAAATAATAAATAAATAGATAAAATAAAATTAGTCCATGGTTTTAAGCTTCCTCCATCTAATAAGCAAGGGCTTAATTGTGTGTGTGTGCACGTGTGTGTATAATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATGTTATATATGTAATATATTTATATATTAAATATTAGTATAAGCTATATAATGTGTATATTAATAATTCATAATACGTTATTTATATATTAATAATTAGTATGTATTATATACTATAGCACATGAAATATGTAATCTATATTAACATATAAATATTAAATATAAATCAATAATACATATTATAAATAATATATTATAAATAATATAGATACATGTGACCAGGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGAACAACATGTAGAAACCCCTTTTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCACTTGAACCCGGGAGGAGGAGGTTGCGGTGAGCCGAGTTTGTGCCACTGCACTCCAGCCTAGGCAACAAGAGTGAAACTCCGTCTCAAAATATATATATGTGTACATTATAAATAAAGCTATAATATAATATATTATTGTATATTATTTATAATATACACATTTATATGTTAATATGTATACACAAATAATGTATACTTAATATTTATATTAAATATAAATCCTATTATTACATATTATGATATGTATGAAGTATTATTTATATTAAATATTGTTTTTCTTTAGAGGCCACGTCTTGCTCTGTCCCCCAGGCTGGTGTGCAGTGGTACCATCATGGCTCACTGCAGCCTCACACTCCTGGACTCAATCCTCCCGCCTCAGATTCTTGAGTAGCTGAGACTACAGGCACGTGCCACCACACCCAGCTAACTTTTAAAATGTTTTACAAAACATTTTTGTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG
AGGGTGCATTCCTAGAGGATCTGCTGGGTCAAGCGCCCAGTGTTTGTGATTTGGGCAGAAAGTGCTTGGTCTGGACTGTTCTCCATTCGGCAATGGAAGAACACAGACTGCTACAATGATAGGAAATGGGAATGGCCAGGCAAGGTGGCTCATGCTTGTAATGCCAGCATTTTGGGAAGCTGAGGCAGGAGCATCACTTGAGCCTGGGAGTCCGAGACCAGCCTGGGCAACATAGAGAGACCTCCATCTCTTTTATTTTCTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGACGGGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTTTTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTGAGATGAACTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTGACTCCCATCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGTAGTGGCGCGATCTCAGCTCGCTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTTCGGAGTAGCTGGGACTACAGGTGCCCACCACCAAGCCCGGCTAATTTTTTTGTATTCTTAGTAGAGACAAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGTGTGAGCCACGATGCCTGGCCCCCATCTCTCTCTCTTTTTTTTTAGTTAAACTAATCAAAAAGGATAAAAAGGCAAAAAAAAAATCTGTCATTCTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCTCACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGACCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCAAAATCTATCATTCTTAGAGTCTTGAGTCCGGCGTCTAGGATTCTGTAATTCGAACACTCCAATATTCGGATGCTCTGTGGTGCTATGGCTGTTTCAAGGACTCCCAGATTTTATGCGTCTAAGGTCCCATGCTCAGACTCCCCTGAGTCAGTTCTGCAATCCCCACCCAGGATCCGGGCATCCCAGGTCAGCTTCCACCTTGGATTGGTCCTCCCTCCATCACACCATGGATGCCCTCACCTCAGTGGGGGGCCGCAGTTGACCAGGGCGATGGTCTTGCTGATATAGGTGTCAGGTAGCATCTCCCGGACTGCTGGGTTCTCATGGAATCGCTCCACACGCTGCTGGAAGCTGGTGGGAGGAAAGGGGACAGATAGGGCGCCACTGGGTCAGGGTCCCTCGTGGGCACCCAGCCTGCCAAAGCCACCATCCCTGCGGTGGCACTCTACCTGTCCTCAGGTGACTCCCTCTCATCTCTCCTCTCTCTATTGGATCCCAGGCCCTGATGCCCAACCCCCAGCAGAGCTAACCTGTGCTCCCAGGTTCCCCTACCTCTGCAGGAACTCTGCCAGCCCGCCTAGGCAGCAGTGGGCCATCCGCTCCCCAAACTCCTGGCTGATGCGGGGTGCTCGCTCTGTGTGCTCTTCCAGCAGCTGTGAGGTCCAGGGCGACAAGAAGAGGTGAGGAGGGGCAAGGTCCCACTTTCCATCCAGCCCATCCCCCAGCCTCCCTCCACCTCCTACCTCACACACATCCTGGGCCAGGCTGCTGGGCTGGTCCTCCAGGCTCCCCCAGTGCTCTTCGTCCTCCTGCTGCACACGGAGAAGGGCAGCCCGGGTCTGAGCCTACAGTAGGGAGAGGGGAGACAGGCAGGAGTTGGGGGCGGCCTGGAGGTCTTTTTTTTTATCTCTTTCTCCCACCACAATCCCCTAGCCCTTAACCCCAAGCAGTTCTGGATTCTACCTATGAGCTTGTCAAGGTGATGCTGGGGAGGGAGGCTGAGCCAGAAAACTTCTGCAGCCCTTCCCACTCCTAACTCTGTGGTTTGGAACTTCATATTAAAAGTCTGGTTTGGCCAAGCGCGATGGCTCACACATGTAATCTCTTTGGGAGGCTGAGGTTGGCGGATCACCTAAGGTCAACAGTTCAAGACCAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCGTGTCTGTAATCCCAGCTACTCAGGAGGCAGAGGCAGGAGAATTGCTTCAACCTGGGAGACAGAGGTTGCAGTGAGTGGAGATCATGCCATTGCACTCCCGCCTGGGCAACAGGGTGAGACTCCAACTCAAAAATAAAAATAAAATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGACGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAATAAATTAAAAAATAATAAATAAATAGATAAAATAAAATTAGTCCATGGTTTTAAGCTTCCTCCATCTAATAAGCAAGGGCTTAATTGTGTGTGTGTGCACGTGTGTGTATAATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTATTAAATATATGTTATATATGTAATATATTTATATATTAAATATTAGTATAAGCTATATAATGTGTATATTAATAATTCATAATACGTTATTTATATATTAATAATTAGTATGTATTATATACTATAGCACATGAAATATGTAATCTATATTAACATATAAATATTAAATATAAATCAATAATACATATTATAAATAATATATTATAAATAATATAGATACATGTGACCAGGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTTGGGAGTTCAAGACCAGCCTGAACAACATGTAGAAACCCCTTTTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGACAATCACTTGAACCCGGGAGGAGGAGGTTGCGGTGAGCCGAGTTTGTGCCACTGCACTCCAGCCTAGGCAACAAGAGTGAAACTCCGTCTCAAAATATATATATGTGTACATTATAAATAAAGCTATAATATAATATATTATTGTATATTATTTATAATATACACATTTATATGTTAATATGTATACACAAATAATGTATACTTAATATTTATATTAAATATAAATCCTATTATTACATATTATGATATGTATGAAGTATTATTTATATTAAATATTGTTTTTCTTTAGAGGCCACGTCTTGCTCTGTCCCCCAGGCTGGTGTGCAGTGGTACCATCATGGCTCACTGCAGCCTCACACTCCTGGACTCAATCCTCCCGCCTCAGATTCTTGAGTAGCTGAGACTACAGGCACGTGCCACCACACCCAGCTAACTTTTAAAATGTTTTACAAAACATTTTTGTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG
Task1_train_27341
Given a variant located on Chromosome 19 and affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Trichothiodystrophy
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27342
This variant affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Trichothiodystrophy 1, photosensitive
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27343
This mutation is located in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; ERCC2-related disorder
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27344
This mutation occurs in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Xeroderma pigmentosum, group D
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27345
Chromosome 19 houses a mutation in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Trichothiodystrophy 1, photosensitive
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27346
This alteration in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cerebrooculofacioskeletal syndrome 2
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27347
A mutation on Chromosome 19 affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Cerebrooculofacioskeletal syndrome 2
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27348
Consider a variant on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Determine its clinical classification and disease relevance.
Pathogenic; Hypotrichosis simplex
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
CAAGGCAGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATACCAAGACCCCTGTCTCTACAAAAAAAAAAAAAAAGGCGGGACTGGATGCAGTGTTGGGAACTGGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCACAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTC
Task1_train_27349
This variant affects gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Xeroderma pigmentosum, group D
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27350
This alteration in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cerebrooculofacioskeletal syndrome 2
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27351
This mutation occurs in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Trichothiodystrophy 1, photosensitive
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27352
A change on Chromosome 19 affects gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Xeroderma pigmentosum, group D
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27353
The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27354
The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Inflammatory bowel disease 1
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
GGGGTCCGAAAAGTTCCCAGACACTCCCTTCTCCGCAGGCCTCAGCCTACCTGAAACAGAACAAGTATCAACAAGCGGAAGAGCTGTACAAAGAAATCCTCCACAAGGAGGACCTACCCGCCCCTCTCGGTGAGCCCCTAGCCCCTGTCTGTCTTCCCTCCTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACTGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCAC
Task1_train_27355
A variant was discovered on Chromosome 19, affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Inborn genetic diseases
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTTGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
Task1_train_27356
Assess the clinical impact of this variant on gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTTGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
Task1_train_27357
Here is a variant affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not specified
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
CTGGTGGCTTCTCTATGTCCCCATCTCAGTGTCCCCCATCTTTCCCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTTGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGG
Task1_train_27358
This is a variant in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; not specified
CCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATG
CCCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCTGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATG
Task1_train_27359
This sequence change occurs on Chromosome 19, altering ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Trichothiodystrophy 1, photosensitive
CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGC
CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCAACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGC
Task1_train_27360
This variant affects the gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGC
CCCTAGGTGCCCCCAACACAGGCACAGCTGGTGACGCAGAACAGGTGAGGATGGGCTGTGCTTCGGCTCCTGGGGTGGGCGTGGGGACTGCATGGGCCTGGGGGACTGAGCAGCATCCCCGGCCCCTCCCCAGGCCCTTCGCCGCAGCAGCTCACTCTCCAAGATCCGTGAGTCTATCAGGCGAGGAAGTGAGAAGCTGGTCTCCCGGCTCCGAGGCGAGGCGGCGGCAGGAGCAGCCGGGTGAGTGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCAACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGC
Task1_train_27361
With a mutation on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27362
This is a variant in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Xeroderma pigmentosum, group D
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27363
The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Inborn genetic diseases
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27364
A sequence alteration has been identified in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it disease-inducing or harmless?
Pathogenic; Xeroderma pigmentosum, group D
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27365
This sequence variant lies in ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Trichothiodystrophy 1, photosensitive
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27366
A variant found in Chromosome 19 affects ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Cerebrooculofacioskeletal syndrome 2
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27367
The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Xeroderma pigmentosum
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
TGTTGATCAGGTCGGCAAAGAGCCCTGACATCAGCAGAATCCACAGCCCACCCCACCCCCACCCCCATCTTGCTCAAGAACCTTCCATGGCTCCCATCTCCCCTGTGATACACACAGATCAAACCCTGTGCTGGAAAGGTCCCTCGTGGAGGGGGGCCACTCCTGGATTCACTCATTTCCTCCCTGCTGCCCTCTTTGCAGAATGAAGAGAGCCATGTCACTCAACACACTGAACGTGGATGCTCCAAGGGCTCCTGGGACTCAGGTGAGGGGGACATCTGGGTCAAAAATAGAGGAGGCCATGTGGGTAGGTGCAGAGATGAGGCAAAGGCAGGGCGGTCGGGCCAGTGGTGGAGTCAGCAGGTGGTGGGTTGGTGTCAGAAGAGACCCAGGACAGGAGCAAAGATGGGTTTTACTTGGGGTAGAGGCGAGGGGGTTGGATAGTTGGCTGCCAGGCTGGACCTGGAGCTGGAGGGTGGATGTAACACTTGCCCCTCACCTCCCCTCCAACCATCCCCTGTGCCTGTCTCCAGTTTCCCAGCTGGCACCTGGACAAGGCCCCTCGGACCCTCAGCGCCAGCACCCAGGACCTGAGCCCCCACTAACGTCCAGTGAACTGCGCTGGCCGCAGCTTCTTGGGAACAGTGCAGGAGGGATGGGCTGGTGGGGTGAGAGGGGGTCTATCATCTCCTGGCCCCCCCTTGCCTCTGGGTACCTGGTGGATAGCTGCCTTCTCCTGCGATTAAAGGCTGTGGACGTGACAGTGAGAAATGTCACCTGACTTCATAAGACCTTCTAGCACCACCGCCGCTGGGAACCAGGGCCAGGCAAGACTCAGGAGTCACCAGGAACCGTTTATGGCCCCACCCGCCCCACTCAGAGCTGCTGAGCAATCTGCTCTATCCTCTTCAGCGTCTCCTCTGATTCTAGCTGCTCCAGGCTGAGCAGGGACAGGCCCAGCTGATCCTCCTGCAGAGAACAGAGGAAAGGGAGAGGGGGGCACTGTTGGGCAGGGGCCCAGGCAGCTGCTGCACTTCCCCAACCACCCCCCCGAATGGCCAGTAGGGACAGGATGTTTGAATGAATTTGGAGATGTCCGTATAATCCAGAGCGGGCCATCCCTGTCAACATAAGATGGGGCTGAGGGAGGAGCCAGCTAGGGAGTCGGAGAAGGACCGGCTTTCTCCAGGCCAGCACCGTCTCTCCTGAAAACGCCCAATGCCTCCTCACCCCAACTTCTCTCACCCTGCCGTGCCTGGGCCACCTGCTGGCATCTGTGGCCCCTCGAATCTCCCCCTTCCCCCCAGAGCCTGGCACGTAGATGCACGATAAACTTCTCTTTGCTGAGGGCAGGAGGACAGGCAGGCTGAGGGTGGGGAGTGGGGAGAATCCAAGGGGACTTTCTGGAGGAGAAGCTCAGCCTGGGAGGGTGCCGGGAGGGGGACGCAGGCCTCACCCGGTGGAAGGGCTGTGCCATCTGCCGCAGGAAGTACTTGGCCACCTGGACACCCTCGTCCACGGTCAGGTTGAGGTTGGCATCTGTGAGGTGCTCCTGGATCCAGCGGGGCAGCTTCCCCCGCTTGTCCCCACGGGCAAACCGCTGTGGGCAGAAGCGCAGGCCAGGGACAGAAGGTCATTCGGGGAGCCTGGGCCACTCTCCACCCTGCAACCCACCCCACCTGGGAAATGAACGGGAAACAGCCTGGTTCTTGGAGCCTGGGATGGGAGCACAGGGGCACCCCTGAAGCTGCACCTTGTCGGCAAAGACCATGAGGCCGTAGTCCGTCTTGCCCCTGATGGCCCGACCCACACACTGGGCCGCGTGGCGCATGGCATCGAAGGTAAGAAAGTCATTCTCACGAATCTGGAACTGGTCCCGCAGGTATTCCAGCCGCGCCTGCAGATACGGAGGATGAGAAGCTGGGGAGGTGGGGGAGCCACTCCTCCCTTGATCCTAACACTGTGGGACTCCCTGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCGGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCA
Task1_train_27368
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Xeroderma pigmentosum, group D
TGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCTGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAA
TGGGAGACAGAGCTACTCACCTTGAGAATGCGGCTCTGTGTGTAGACGTAGGGGACGCCAAACATGATGACGGCCCGCCCGTAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGGGTTACAAGTGTGGCTGGTGGGACAGGGACAGCCTCACGCGACCCAGGATGCTGTGTCTGAGTTGGGGGGAGAGGGTGTGTTCCCGCCGGGTGCCTAGGGACAGAGGGGAGGGGAGGGCCCCTCTGTGCACCTAGGCTGGGGGTGGGTGGTTCCCCGCGGGAGCAGACAGCAGAGCGGGCAGGTGTTCCAGAGAGCTCTGGGAAGACACCTGGGGAGGAAGAGCCCAGTCCACTCACCAAAGTCGATTCCCTCGGACACTTTGCCCCGGGCCACTGACAGCAGGATGGCCCCGCGGCCATTCTCGCAGGCCTGAGGTGGGGAGACCGAGACGCAAGTTAGGTCACTCCTCAGAGCCACCTCCCCGACCCCTCTCCACGCTGGCCTCGCACACCCACCTCCTGGTACTTCTCCAGGGCGACACTGGTTTCGGCACCATCCTGGGTCTCAATAAAGAGCAGCTTGTTCCTCTGGATGTTCTCAAGGATCCCCTGGGGAAGGACCCAGGGAGGTCAGGGTGGGTTCAGGGCACAGCCATCCTGGTTACATCCAACTCTTCTGGGGACTCCCACATCACCATGTCTCTGGGCCTCAGCTGGCTCATCTGAGATGTGGTGAGGGAGGGTGGAATTGTCCAACCTCAGTTCTTTGGGGAAACAGTGATCTGGGTGGGGAACCAATCATTGCTGGATAAGTGGGGCAGGCATGTGGCCCAAGCGGGTGGCCAATCAGGGCACCCCAACCCCTGCCAGCGATTGGTGGAGGGGCTGACTGTGAGGCAGGCAGAGCCAATCAGAGGCTGCCCTGAGACTTCCCATATGACACTACAATAGAGACAGTGTGGAGCCAATGCAAGGACAGACCACTGGGACAGAATGGAGAGTCCAGAAACACACAGCCACCTGTGCAGTTCAGTGGGGAGAGCTTTTACTGGAGCAAGTGGATTTTCAAATGGAACCAAAAAATGAACCTTGACCCCCTACTTCACACCACATAGAAAGATGAATTTGAGGTACCTCATAGACCTGGATGTGAAAGCTAAAACCACAAGCTCCTAGAAGGAAACAAAGGAGCCTCTCTCTATGACCTTGGGGTAGGCAAAGGTGTCTTAAGTAGGACACAAAAGGCACCTGCGCTGTGGGGACTGGGTCACCTTTCCCGCCGCGTGGAAGCCGCCTATTGAAGCACAAGGCCGATGTCCTGGCTGTGAGGATGACGTTCCCGCCTCCCATGCGTGCCTTTCCAATACCTGGATTAGCCAAGTTCACTCACCTCACCCCAAAGTGCTTTCACCCACTCCTGAGAGCCCGGCCATGGTGTGCTCAGAGGCACAAAGTGCAGAGTGGCCTCCCCTCCCACCCATGTCCTGCTGGTCACCCAGGGCCTGGCTGTGGTGAGCCCTGTTTCCAGAATGCCCCACGACCTCCTCTAGCTGCTTCCCTGAAGGGGCTCCTGCAGACCCTTGAGAGGCTCGCCCCGAGTCTTGGTCCAGCCTTAATTCTCTAGAATTCCTCTAACCCAGCTAGAGCCACGCCTGCTATCTGGGCCTCCCCACCAGGCCATCTGTGCTGGAGGATAACAGGGATGGGTAACCCCAAAAGCAGCAGAGAAGCAAGGAACCTAGAACGTGGGGGTGACTCTGCCACAGGGTACTCCTCTGAGGGAGGGGCCCACATTGGGGCTTATATCTGCATTCTCAGCCTGATGTACTGGGGGCGGGGCATGGGGGTGTGTGCTGCTTACACCCCATTCCTACATGCTGCACACACTCTCCTGTCACACAGGAAACCTGTCACCATCAGAGTGTGAGAGGAATGAAGCTGACATAGCGGTGCAGTGCCAGGGACTGAGGAGAGCAGGTGCAGGGAGGGGGTGGCCAGGCGTACCTGCTCATACCAGGAGGCCACGGTGCTCTCCATGTACTGGTAGCGGGTGAAGAAGGCCACGATGCCATCAGGGACCACAGCGGACATCTCCAGCAGGAGGTTCCCATAGTTCCGGATCACAGCTGCAAGGGGTCAGAGGTTGGGCCCTCTCCTGGCCCAGGTCCTCCTCCCTTCTCTGTCTTAGAACTAGGAGTTTCTGGAAACCCCACTGAGGCTGCCTGTCAGGCTTTTCACACATATCCCCCTCCTCCTCCTCCCGGGCGTGTCTGAGGACCCGCCTTGCCACTTCCTGAAGTCACACCTGGCTATGTGATTTGCCATGGCCAATGAAATGAGTGCAGAAGGGGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATCTGAAGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCCAGCGTGGCGGCAGAGGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAA
Task1_train_27369
Here is a variant affecting ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Xeroderma pigmentosum, group D
CTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCAGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGC
CTCGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGCAAGGCAGAGACTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGCAACAGAGCAAGACTCTGTCTCAAAAAAAGGCCATGTGTCACTTCCAGGGGAGCACCCTTAGGAACCAGTGCACAATACACTGTGACCACTGTGATCCCACCTGTCACATTATGCTGCCTCTGACACACCCAGCGGTGGAGGTTCCCAGGTGAGGAGACACAGGGCAGGCCCCTACCAGCTCACAGTGGACGTGTACCACGGGCAAGAAGGAAACTCTGGGCTGAGCAACTAAGGCCAGGGATATTTGTTACAGCAGCATGACTCAGCCCACCTGACTGATACACCTCCCCTCTTGGAACCCACAGAAACCAGCCCCACTGGCAGCATACCAATATCCTCCCGGGTCTCAAATTTGGAGCTGATGGCCACCTGGTCATTGCCACGGCCGATGATCTGGAGAGCAACAGAGGTCACGATAAGCGAGGCAGCAGCAACTGCTCCAGCGTGAGTGCTGACCACCTGCTGGTGCTGTTCTAAGCTTTTTTTTTTTTTTTTTTTAAAGAGAGACAGGGTGTCACCATGTTGCCCAGGCTGATCTTGAACACCTGGCCTCAAGTGACCATCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAAGCATGAGCCACCACACCCAGTCTGCTCTAAACTTTTTATAAACACAGTGTCATTGAATGAACCCTCAGCAACCCTGTTATCTGCATTGCACAAATGACCTGGGCTCAGAGAAGGTGAGTTGCCTGCCCAAGGTCACACAGCAAACAGGTGGCAAAGATGGAACCGGACCCGAGTCTGTCCACACTCTCCAACAGCAGCTACACTCTAGCCAGCCCCAGGCCCTGGGCCAGCCGGATCCCGAAGAACACCCCTCGCCATGCCGGCGGGCATCCCACCAGCCGGCAACCTCACACAACCACCATGCAGTGGGGGTCATTACCGGTCCACAACCTCTGACAGGCAACTCCAAAAGCCAAAAGCTCTGAACACATTTCTTTTTCAAGTTTGGCACAAACTCATGAAGCAGCAAAACCTGCCCTGCCCCGAGTCTCTCCAGAGGCCTGACTTACTCCTTAGTGTGATGCTTCCCAATCTTTTACTGCCGAAATGGGAGTTTGACTCGGGGGAGCTGCCCAGACCCCACTGTGGGCATCACACACCACACAGCATAGGCCTTGTCTCTAAAGGCTGGAAAATTCTGAATTCCAAAACAAATGGCTGCGCGCAGTGGCTTACACCTGTAATCCCAGCACTTCGGGAGGACCAGGCGGGCGGATCACTTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAATTAGCTGGGCATCGTGGCACATGCCTGTACCAGCTACTCAGGAGGCTGAAGCATCAGAATCACCTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCGCACAACAAAAACAAAAAACCACATCCAGCCTGGGGACTTCAGATAAGGGACTGAGGGCTCATGTTGACATGCACGTGTTACAGAGACGGAGACGGAGAGGAAGGCTCACTTACCTGGGTCACAGCCAGACCACGTACTCGGCAAGATGCTAAGATGCTGACTAAGCGCCTACCTGTGCCAGGCCCTGGGCGACCTAAGTGGTTTACCCCAGTTCTCTCTCTCAATCCTCTCAACCACCCTGGGAGATCAGGGAGGATACATTCCCATTTCACAGATGAGAAAACTGAGGCTTGAGAGTCGAGCCCACAGAGAAGCAGAATCAAGCCTAAGTCTGTCTGAATCCCGAACCCAGCCTCTTCGCTGTAAAGCTCTCCTGCCTGAGCAGTGGGGGAAGCCAAGGAAGGAGGGCGGCCCCTTGCCCCCATCTCCCCTCCCGGCCCCAGCCCTAGCCTCTCCCACTCACCATAGGGCAGAGGCAGACCCGTGCCGGCGTCATGGTGAAGGTTGCCATGGTGACGGGGTGGAAGTCCAGGATCTTGGGGTAGATGTCCAGCGGGGACAGTGTCTGTGGCGGGACAGTGGGAGGGATCTCAGCAGGACTGGGCAGGGACCAGGAGGCCCATGGAGGGAGGTCAGGGACTAGGAGGGGACGGGGAAGGGTCCTTACCCCAGATGTGATGATGACAGACTGGAAACGCTCAAATACGGGTTTGATGGCCAGCGAGGCGTCCATGCAGCTGGAGAGAGATGAGGGCAGTGAGGGCCCGGGGGGCTGGGCCCCCGACCCACAGAGCATTCACACCCTCACCGGGCAGGGTCCCACCTGAAGTGCAGGATGGGGTTGGCAATGGTCGGGGTTCTGTCGTCAAAGGGCTCGATGATGATGGTGAAGCCTGCAGAGGGCAGGCAAGGAGGGGTGAGATTACCCCACTACAGCCACAGCTGCACCCACTCAGTCATTCCCTCTCCTGCTCCCTCGCTTCACCCCAATCTCCACCCCGTACTGCCTGGGAGTAAATGCGACCAAACATGACTGCTTAAGCCCCAAACCAGGCATCTGAGTCCAAAATACACCCCAACCTGTCCGCTTCGGGCCCACACCTGTGCAAACTTTCACGAAGGATCCCAAGTAGAGAGCCCACAGCCCCGCCCACTGCTCACTCTCCCAGCACCGCATGGGCTGCCCAGCACCCACGCCAAAGCCAGGAGCCAGAGCCTCAAGCTTTCTCCCATGACCTTTTCTTGTTTTTGTTTTTTGAGATGGAGCCTCGCGCTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCAGCCTCCTGGGTTCAAGTGATTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTATAGGGACACCCCCCTACAACACACCCAGCTAATTTCTACATTTTTAGTAGAGATGGGGGACCTGCAGTGGTCCACCCGCCTCAGGCTCCCAAAGTGCCAGGATTACAAGTATGAGCCACTGCACCTGGCCTCCCACGACCTTTCTACCTAAGCCATCAGCAAAGCCGGGCAGCTCTGCCTCCAAAACCTACCTGCAATTCGCCCACTGCCCCCGACCCCACGCGGGGCCAGCCACCATCACCTCCTGCCTGGACCCATCATCCCCTGCTCGCTTCACGGCAGCCAGAGGGACCCTAGGGAAACCTGAGTCCCTGAGTCCAGCCATGTCACCTCCCCGCCCCAAGAAGCCTCCCATGGCCCCCACATGCCTCCAGTGGCCTGGTGCCTGACCTTCAAAAATCAGCAGGCTCAGTCCCCCCAGGGCCTTTATACTTGCTGGTCCCATGTGGCCTGGAAAACCTCCCAAGGCTGCTCCATTTGGTCATCTGAGACTGCTCAAAAGTCAGCCCCTCCGAGAGGCCCTCCCCAGCCACCTTTTCTACGCAGACATATTCCAACACAACAATGTATTTTTTTTCATGATAACTGTCACTTTCTGGAATTATTTCCTTGTTTATTTGGCTGCATCTTTGCTACTGGTTTTCCCATCTGGAATATAAGTTCTGGGGGGTTAGGGATGAGATCTTTTTTGGTTCCTGCTGCTTCCACAGTGCTGAGCCTGGCCTGTTTGTTGAAGAAATAAATGAATGAATGAATTTACATATTCGGTTTCACACAGTGAAAAAAAATCAAGTCCTCTGTGCTGGGGACACAGTGGTGACCAAGCCAGCCTTGCCCCTGCTCGCATGGGTTCGCAGTCCAGTAGGAGACAGACTTGTCCTCAGATAGTGATGACTGAGAGTGGGCAGTGCTGGGACAGAGGTGCCCAGAGGAGGGGCCTGACTCAGCCTGGGGGTCAGGGAGGGCTTCCTGGAGGACAAGACATCTCTACTAAGCTGAGAACCTAAGGATGAGGGGGAGGTGGTTGGGGGATGAGGAAGATGAGGAAGGATGATCCAGGTGAAAGACCATGAGGTGTTGGCAGATGGGAAATAGTGGGTAGAGAATGACAAAGGTAGGGATGGAAGATGGGGCAGGACAGAGAGACAGAGGC
Task1_train_27370
With a mutation on Chromosome 19 in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGC
GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGTGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGC
Task1_train_27371
This mutation is located in gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Xeroderma pigmentosum, group D
GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGC
GTACCCTCTAAGGCACCATCACAGCCTAAGGCTTTTTCTGAAGAACAAATCCTTTTCCTACGCCAAAAGGAAAGCTCCAAGGCAGCCAGCCCTTCCTTCTCCATTTCCCCTTTCATCAGTCACCGAGGCCTGTGCTCTTTGTCATCCACTAGATGTATTATTTCTCACATATTCTTACAAATAATGTGATATAATATATAGTCTGTGGGCCCAGTGTGGGAGTTTGAGACCAGCCCGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCAGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCACTTGAACCTCGGAGGTGGAGGTTGTGGTGAACCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATTTCAAAAATAATAATAATAAATAAGGCTGGGCACGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGTGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGC
Task1_train_27372
The gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Xeroderma pigmentosum, group D
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCTGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
Task1_train_27373
A variant found in Chromosome 19 affects ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Trichothiodystrophy 1, photosensitive
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCTGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
Task1_train_27374
Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Xeroderma pigmentosum, group D
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCTGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
Task1_train_27375
Mutation context: Chromosome 19, Gene ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Cerebrooculofacioskeletal syndrome 2
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCCGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
CGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACAAGGTCGGGAGTTAGAGACCAGCCTAACCAACATGGTGAAACACCGTCTCTACTAAAAACACACAAATTAGCCGGGTGTAGTGGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGTAGTAAGCCAAGATCACTCCCCTGCACTCCAGGCTGGGTGACAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAATATATATATATATACACACACACACACACACACACACACACACACATATAAAAACATATATACACACACATATATATGTAAGTATAATATATACACATATATACATTCTGTGGGTTACCACATGTAAAGTATTCAGAACAGTGCCTGGCACACAGTGAGTACAATTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCCCCTCGGGAGTTCGAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCCAGCTAATTTTTCAATTTTTTTTCAGTAGAGACGGGGTTTCTCCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTCAGGTGTCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGTCGTGAGTCACCATGCCCAGCCAAGTACAATGATTTTATAGCATAATTTAATGATAACTAATATTGTATTTGTCATATATCATTATGCATATAAATATCATGACAATTTCTTTTTTTTTTTTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAATGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTACAAGCGATTGGCATTACCGACGTGTACACCACCACCCCCGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTTCGCCGTGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAATGATCTGCCCACCTCAGACTCCCAAAGTGCTGGGACTACAAGCGTGAACCACTGCACCTGGCCTATCATGAGAATTTCTAACATTCTTTTAGCTCTTTGTACATGCTAAGGGCATCGGCTGCAACATTTCACCCAATTTTATCATCAGCAACCTTATGAAGCAGGTACATAATTATCCCCATTTTACAGAAAGGAAGACTGAGGCCCAGGTGGCAGAAAATGCCTCTCCATAAATACTGGGCTAGTAAGTTTCAGAGCCAGGAAACCAGGCTTGCCAGAGACTCTAAGAGCTGCCTTTTTAACCTCTCCTAGGCCTGGGTAGAATTTGAAGACTCCCTGGAGGAAGTGTGCTTGCCTGGGCCACGATGAATGAGAATTTGACCACTGAGACGGGAATTCTGTGTGTAGCCACTGCATGCCTTTGCAAGAGATATGGCCTGGGGATCCAGGACTTGTGGTTGGACGAAAGAGTTTTCTCTACCTCTGGGCTAAGGGCAAGGAGAAGGAACAGGTGCTCACCTCAGGGTGAATACACAAGTTTTTGCGGGAGCTCAGAGCCAGTCCCAGAAACGGCAGCTTCTCGCCCTCCTGCTTCTCATAGAAGTTGAGCAACTTTCGAAGCTCTTCAATCACCTACTCCAAAGTTGGGGGGCAGGGGGAGCTTGTGCTCATTGGAGGCACAAACCCCTGCCCTGCCAGGTCCCAGTCTCTTCCCCAGCTTCCCAAACACCCCCGAAAGCTGGTGACGGCCACCGCCAGGGGGACCAATAGGGCCTAGGGAACAGTGGGGCTGGAGCACCAGGATGAGTCCCAGCTTACCTTCTCAATCTCTGGCACAGTTCTTGAGCAGTAGATGAGTTTGGTCACCTCCAGCGGATATGCCTGCCGATAACAAGCGGACTCAGTCCCTGTCCCGCCCCTTCCTTTGTCTGCCTTTACGGGTTCAGCGCATCACTCACTCTCTGGTATGCCATGATCAGGGCCAACAGGGATACTGTCTTCCTGGTGCCTGAGGGCATCTCCAGGACTCCATGACCCTGCATGTTGGGGACCAGAGGGGCAACACACAGGGTCTCAGAACCTTGGGCACACAAACTCTGGGGACTCTCCCCGACCCCCAATGCCACCAACTCAGAACAGCAGGATAACACAGCAGCAGTTAAGATTGGGCAGTGGGTTTGAACCTCACTTCTGCCTCCTCCTTGTTGAGTGGTCTTAGGCAAGTACCTTCACCTCCCCAGACCTCAGTATCCCTATCTCTAAAATGAGCCTAAAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAACCACCTGAGGTCAGAAGTTCAAGACCAGCTGGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGATGTGGTGGCGCGCACCTGTAATTCAATCTCAAAAATAAATAAATAAAATAAAATGGGCCTAATAATAAAACCTTCCTCATAACATGACTATGAGGATTGTGAGAAATTGCAGGTTAAATATTTGGCACAGTAGCTGATATATAGTGAACTTTTCTCCCTTCTTTTTTAAGAGACAAGTGTCACTATTGCCCAGGCTGGAATGCAGTGGCACAATCATGGCTCACTGCAGCCTCCAACTCCTGGCCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATTACAGGCGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCCGCCCGCCTCGTCCTCCCAAAGCTCTGGGATTACAGGCGCGAGCCACCGCGCCCAGCCTATTCACCATTATTGTTTTAGATAACGGAAGATTATGGGGTCCTGGATTCCCAGGGACCTCGGACTTCTAAAATCCAGACGTCCTGCAATCTGTCTTAGGCCCAGGCGTGGCAGCCCCACCGGTCGAGTGGGCGGGTCGGGCCCACCGGCCACCCACCTTGGCGTCCAGCGTGCGTTTGAGCTCCCGCATGTAGGAGAACTGCTCGGGGTAGATGTAGTCGTACGGGAAGTAGACCAGGAGCCCGTCCACGTTGAGCCTGGCGGCAGGGGCTGCTGGGTCAGTTCCCGTCCCCTCAGCCCCTCTCCCGCCTCCACAGTGCCCGGTCGTCGAGCCCAGAGAAGGGTGACGGGCCCGGCGCCCCCGGTAACCCTCAGGTCCTCAGGAGCCTCGGGGCCCCCTCAGTGTCTCCTCGCTATCACTGCTGCTCCCTGCGGCTGCCCCCGTCCCACCCCTTCACCCTCCCCTCGCCCCCTTGGGGACCCAGGCGCGCCCACCGATGACCCCATCTTCAAGACCCCCCGCGCCCGCTAGCGAGCGCGACCCCCAGCCCCCTTCTCACTTCATGGCGCCGGCCGGACTGTGCAGCGGGGTCGACCCGCCTCCCTCATGAATATTCAGCGAGAGGCCGGGTCGTGGACATCCTCGAGGGCTCGCTCCACCTATATTACGAGACCATTGGCTAACCTGCCCGTCAATCCGCTAGGGCAGAGCCAATCGGGATACTGCGCGTGCGCACGGAAAAGCGAGGGCGGCTGACTCTCGGGTGAGGCGGTGCGGGAGGCGTCACTGAGGATCGTCGAGGGCCAATCAAAAAGAAAACATGGAAGGGAAAGAGCCGAGAGACTCGATCTCATTCACTAGAATTTGGTCCTCCTGCGCCTGCCAAGATTGTCTGAGTATTGATCGAACCCAGGAGTTCGAGATCAGCTTGAGCAAGATAGCGAGAACCCCCGCCCCTCCACCTCGTCTCAAAAAAAAAAAAAAATCGTCTCAGTAGCGAATAGTCTAACGGAGAATGACAGGGAAATTGGTGATCCTTTCTGGGCCCAAGAGTTAGAAATGGCTTTGCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAAACCTGTCT
Task1_train_27376
A variant on Chromosome 19 in gene ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Cerebrooculofacioskeletal syndrome 4
CTCCACCTCCCGGGTTCAAACGATTGTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACCTGGCTACTTTTTTGTATTTTTAGTAAAGATGGGGTGTCTCCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCCCAAGCCACCGCACCTGGCTTAGAAGCTTTTTAATTTGATGTGATCCCATTTGTCCATTTTGCTTTAGTTTCCTATGCTTATAGGGCATTACTCAAGAAATCTCTGCCCAGTTCAATGTCCTGGAGAGCTTCTCAATGTTTTCTTGTAGACGTTTCATGCATTGAGGTCTTAGATTTAAGTCTGTAATCCATTTTAATTTGATTTTTGTATATGGCGAGAGATAGCTATCTAGTTTCATTCTTCCTCATTGGATTGCTTCTGCTTTGAGACAGGATCGCTCTGTCACCCAGGCTGGAGCGTAGTAACATGCTTATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCCACCTCAGTCTCCCCAGTAGCTGAGACTACAGGCACGTAGCAAGCTCACACCACCATGCCCAGCTAGTTTTTTTTATTTTTAGTAAAAATGAGGTGTCCACTTGCCCAGGCTGGTCTCCAACTTCTGGCCTCAAGCAGTCCTCCCGCCTTGGCCTCCCAAAATGTTGGGATTACAGGCGGAAGCCACTGTGTCTGGTCTTTGGTTCTTTTTTCACCTTAAAACTTTGGGGTCTCAGGTTGTGTTTATTTGGGGCTCTCTCCTTCCCCCAACTCCTTGGGTTCTTTCCCAGAGCTCTTACTTTCTGAGGGCCCAGGCCTGGGCATAAGGCCAGATCTTCTCTTGATGCGGCGATGAGCTGTTCCAGAGACTGAAAGGTGAAAGCGAGGGGTCAGGGCAGTTGAGCACAAAAGCCTCCCCTGTCCCAGCTGAGGAGGGGCCTCAGATATTCCCCAGGGGAGATGAGGGCCTGTGGGAAGGCAGGACGGGCAAGGGGTGGGCAGGGAGATGGAAGGAAATGGGTGACAGGCTTTCTAAAAAAGGCAAGGGGACAGAAATGCCTATGGGGCAGGGGAGCCATTCCTTACTCCAAATGTGGTCAGGAGGGTCTGACTGTCCGTTTTGTTGACTGACTTCACGGTGGTCAGACATTCAGTCACCTGGAAAGGGTGGAGGCAGGAGTGTGTCGGAAGAAGAAAGGCCAGCAAGACTGAGCCTAGGAGGGCAGGGCTGGGTCACAGCTGTGTCCCCAGACTGCCTGGCGTGCAGGAAGCACTCAATAAACGCTTTTTTTCCCAACTGATTAAAAAGTCATCTCAGGCTGGGCGTGGTGGCTCATGCCTAATAATCCCAGCACTTTCGAGGCCGAGGCGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACACTGAAACCCCATCTTTACTAAAAAATACAAAAATTAGACAGGCATGGTTGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGGAATTAGGCAGGTAATTGGGCAGAGGGAACAGAAGGGGCAAGTGCTTGGAGAAGCGAGCTAGGCCTGGGAGAAGTGAAGTGTGAAGTGGAGGCCACGGGGCTTCTGAGCCTGACGGGCCCTTGTTGAGCCTGGTGAGAAGTCTGGGCTTTCTCTCGGGGTACTGGGGAGCCATGGGAGGATTTTGAGCTAGGGAGGGTAGCAGCAGATTTGTGCTCAGGAAAACCCCTCTAGCTGCAGTTTCGGTGGGATGGGCCAGGAAAGACGAGGCCCAGGGATGAATGGACAGTGCCTTAAAATTGGAACTGAAGCTCAACCACCCAGGAGCTGCGGGGAGGCCCAGGCAGGGATGGGAGGTGAGGTGGCCTCACCCGGGAGACGAAGTCCTGCTCTAGCTTCTCCATCAGGAGGTCCGCTGGTTTCTGCTCATAGGCCTTGTAGGTCTCCAGGTACCGCCCAGCTTCCTCGGGGCTGGGATAACAGGATACAGGGCAGCCGGGAGGTGAGGTATCAGATTATAGATTTGCTTCATTATGGTCAGTCATAAGAATTGCCAATACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGATGAGGCAGGCAGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTTTCTACTAAAAATACAAAAAAGTAGCTGGGCTTGGTGGCGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCCGCTTGGGCAACAAGAGTGAAACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACCAGGTCAGGAGATCGAGACCATCCCGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTTTTCAGGAGGCTGAGGCATGAGAATGGCGTGAACCCGGGAGGTGGAGTTTGCAATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAATTGTGGTTGCTAAAAATCAAAATTCCAGCCCATCCCCCGCCAAATACAACCTGGTAGTAACCACTGCTGGGCGCATCTTGATATCTTTTCTGGCTACAGGCCAGCTCTTGGGAGCCCAACCCCACTTCTCCCTGGGTAACCCTGGGCCAGTGGTTTGCTCTCTGGGCCTGTTTCCTCACTGTAAAGTGGGGTGGTCAGGCATAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCGGGACAACATAGCAAGGTGTTGTCTCCACAAAAAATTAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTTTAGTCTCAGCTGCTCGGGAGGCTGAGGCAGGAGGACTGCCTGAGCCTGTCAAGTTGAGGCTTCAGTAACCTGTGATAGCACCACTGCACTCCAGCCTCAGCAAAAGAGCAAGACCCTGTCTCAAAAAAATAATAATAAAGTGGGGAGGATGGTATGACTTTGAAGATCAGAGAATACTCTGGAATGCTCTGTAAGTGCCAAAAGCCACGCCTGGCACTGCTGAAGAAATGTTAGCTATTTTGGAAGGGAAGTCAGCACACAAAGTGTTTGTACTGGGTTTGACAGGAGGAAAACCAGAAACACTGCTTATTTTCCCGCTGCAGCAAGAAGCCAACCTCATGAAATGTTCAGCTTCCAACCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGTAAGGCGGGAGGATCACCTGAGGTCAGGATTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGTCCCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCCCAAGGCAGAGCCGAGATCGTGCCACTGCACTTCAGCCTAGGGGACAGAGTGAGGCTCTGTATCAAAAAAAAAAAAAAAAAAATTAAGACCTTGTTTTACAGATGAGGAAACTGAAGGCCAGAGAGAGGCAGTGCCTGCACCAGGCCCACACAGGAAGGAGAAGGGAAGGGCTGGGCAGGGTGGGATGGGGGAGCAGGGACCAATCCCAGGTGGAGCCTGAATGAGGCAGGGAAGCCCTCATCTCACCTCCAGGCGAGGATCAATGTGCAGTCGGCCAGGATACACATCTTAGCCAGCTCCTTGAGGGCCTGCTGGGGATCTTTCTGGAGGAGAAAATCAGAAT
CTCCACCTCCCGGGTTCAAACGATTGTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGCCACCATACCTGGCTACTTTTTTGTATTTTTAGTAAAGATGGGGTGTCTCCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGCCCAAGCCACCGCACCTGGCTTAGAAGCTTTTTAATTTGATGTGATCCCATTTGTCCATTTTGCTTTAGTTTCCTATGCTTATAGGGCATTACTCAAGAAATCTCTGCCCAGTTCAATGTCCTGGAGAGCTTCTCAATGTTTTCTTGTAGACGTTTCATGCATTGAGGTCTTAGATTTAAGTCTGTAATCCATTTTAATTTGATTTTTGTATATGGCGAGAGATAGCTATCTAGTTTCATTCTTCCTCATTGGATTGCTTCTGCTTTGAGACAGGATCGCTCTGTCACCCAGGCTGGAGCGTAGTAACATGCTTATAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCCACCTCAGTCTCCCCAGTAGCTGAGACTACAGGCACGTAGCAAGCTCACACCACCATGCCCAGCTAGTTTTTTTTATTTTTAGTAAAAATGAGGTGTCCACTTGCCCAGGCTGGTCTCCAACTTCTGGCCTCAAGCAGTCCTCCCGCCTTGGCCTCCCAAAATGTTGGGATTACAGGCGGAAGCCACTGTGTCTGGTCTTTGGTTCTTTTTTCACCTTAAAACTTTGGGGTCTCAGGTTGTGTTTATTTGGGGCTCTCTCCTTCCCCCAACTCCTTGGGTTCTTTCCCAGAGCTCTTACTTTCTGAGGGCCCAGGCCTGGGCATAAGGCCAGATCTTCTCTTGATGCGGCGATGAGCTGTTCCAGAGACTGAAAGGTGAAAGCGAGGGGTCAGGGCAGTTGAGCACAAAAGCCTCCCCTGTCCCAGCTGAGGAGGGGCCTCAGATATTCCCCAGGGGAGATGAGGGCCTGTGGGAAGGCAGGACGGGCAAGGGGTGGGCAGGGAGATGGAAGGAAATGGGTGACAGGCTTTCTAAAAAAGGCAAGGGGACAGAAATGCCTATGGGGCAGGGGAGCCATTCCTTACTCCAAATGTGGTCAGGAGGGTCTGACTGTCCGTTTTGTTGACTGACTTCACGGTGGTCAGACATTCAGTCACCTGGAAAGGGTGGAGGCAGGAGTGTGTCGGAAGAAGAAAGGCCAGCAAGACTGAGCCTAGGAGGGCAGGGCTGGGTCACAGCTGTGTCCCCAGACTGCCTGGCGTGCAGGAAGCACTCAATAAACGCTTTTTTTCCCAACTGATTAAAAAGTCATCTCAGGCTGGGCGTGGTGGCTCATGCCTAATAATCCCAGCACTTTCGAGGCCGAGGCGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACACACTGAAACCCCATCTTTACTAAAAAATACAAAAATTAGACAGGCATGGTTGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCCAGCCTGGGCAAGAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAGGAATTAGGCAGGTAATTGGGCAGAGGGAACAGAAGGGGCAAGTGCTTGGAGAAGCGAGCTAGGCCTGGGAGAAGTGAAGTGTGAAGTGGAGGCCACGGGGCTTCTGAGCCTGACGGGCCCTTGTTGAGCCTGGTGAGAAGTCTGGGCTTTCTCTCGGGGTACTGGGGAGCCATGGGAGGATTTTGAGCTAGGGAGGGTAGCAGCAGATTTGTGCTCAGGAAAACCCCTCTAGCTGCAGTTTCGGTGGGATGGGCCAGGAAAGACGAGGCCCAGGGATGAATGGACAGTGCCTTAAAATTGGAACTGAAGCTCAACCACCCAGGAGCTGCGGGGAGGCCCAGGCAGGGATGGGAGGTGAGGTGGCCTCACCCGGGAGACCAAGTCCTGCTCTAGCTTCTCCATCAGGAGGTCCGCTGGTTTCTGCTCATAGGCCTTGTAGGTCTCCAGGTACCGCCCAGCTTCCTCGGGGCTGGGATAACAGGATACAGGGCAGCCGGGAGGTGAGGTATCAGATTATAGATTTGCTTCATTATGGTCAGTCATAAGAATTGCCAATACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGATGAGGCAGGCAGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTTTCTACTAAAAATACAAAAAAGTAGCTGGGCTTGGTGGCGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCCGCTTGGGCAACAAGAGTGAAACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCCGGGTGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGAGCAGATCACCAGGTCAGGAGATCGAGACCATCCCGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTTTTCAGGAGGCTGAGGCATGAGAATGGCGTGAACCCGGGAGGTGGAGTTTGCAATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAATTGTGGTTGCTAAAAATCAAAATTCCAGCCCATCCCCCGCCAAATACAACCTGGTAGTAACCACTGCTGGGCGCATCTTGATATCTTTTCTGGCTACAGGCCAGCTCTTGGGAGCCCAACCCCACTTCTCCCTGGGTAACCCTGGGCCAGTGGTTTGCTCTCTGGGCCTGTTTCCTCACTGTAAAGTGGGGTGGTCAGGCATAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCGGGACAACATAGCAAGGTGTTGTCTCCACAAAAAATTAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTTTAGTCTCAGCTGCTCGGGAGGCTGAGGCAGGAGGACTGCCTGAGCCTGTCAAGTTGAGGCTTCAGTAACCTGTGATAGCACCACTGCACTCCAGCCTCAGCAAAAGAGCAAGACCCTGTCTCAAAAAAATAATAATAAAGTGGGGAGGATGGTATGACTTTGAAGATCAGAGAATACTCTGGAATGCTCTGTAAGTGCCAAAAGCCACGCCTGGCACTGCTGAAGAAATGTTAGCTATTTTGGAAGGGAAGTCAGCACACAAAGTGTTTGTACTGGGTTTGACAGGAGGAAAACCAGAAACACTGCTTATTTTCCCGCTGCAGCAAGAAGCCAACCTCATGAAATGTTCAGCTTCCAACCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGGTAAGGCGGGAGGATCACCTGAGGTCAGGATTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGTCCCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCCCAAGGCAGAGCCGAGATCGTGCCACTGCACTTCAGCCTAGGGGACAGAGTGAGGCTCTGTATCAAAAAAAAAAAAAAAAAAATTAAGACCTTGTTTTACAGATGAGGAAACTGAAGGCCAGAGAGAGGCAGTGCCTGCACCAGGCCCACACAGGAAGGAGAAGGGAAGGGCTGGGCAGGGTGGGATGGGGGAGCAGGGACCAATCCCAGGTGGAGCCTGAATGAGGCAGGGAAGCCCTCATCTCACCTCCAGGCGAGGATCAATGTGCAGTCGGCCAGGATACACATCTTAGCCAGCTCCTTGAGGGCCTGCTGGGGATCTTTCTGGAGGAGAAAATCAGAAT
Task1_train_27377
Here’s a variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; 3-Methylglutaconic aciduria type 3
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTCGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
Task1_train_27378
Given this context: Chromosome 19, gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Optic atrophy 3
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTCGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
Task1_train_27379
Here’s a variant in OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Optic atrophy 3
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
TCAAGCAGTTAAGGCCAACTGCTGGCCTAATTGGTAGGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTCGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAG
Task1_train_27380
This mutation is located in gene OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Optic atrophy 3
GGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCCCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAGTCATTTTTGTATTTTTTTTAAAATAGAGATGGGGTT
GGATGGGGGTGGGACCGGGGGCTATGGAGGCAGGAGGGTACTGCTACATGAAGACAGGCTGTCGGGTCAGTCCAGAGCTCCGAGGAAAGAAAGCAAGAGCACACAGATTAGGAGACACGGATGGAAGATGAAGGATGTGACAATTGAATCCATGGGCTTGGATTCGACTGGGTCCCTGAGAAATGCTACTGAGCAAGGTGGGGAAGGCAAGAAAGGACATGCCACACAGTACAAGCTCCAGGGACTCTGAGGACAGGAAAATAGGGGGCTGAGGCTGAAGGACAGGCTGGATTAGCCCTAGTTAGGATCAAATTTCCCACCACGGAAAGGGGGGTTGGAGGACATTCACAGAAAAGATCCTGTAGTGCCATTCCAGTGGGTTGTGCCATAGACTCAAGGATGAGGGGGTTCTGTTGGAATAGTCCACTTCGGGTCTCAAGGGAAGGTACAATGATTCCAGGGATTGACTGCAGGCCAGGACCTTTTGTGGGTTTTTTTAAGATGGAGTTTTGCTCGTTACCCAGGCTGGCATGCAATTGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACGGGGTTTCATCATATTGGTCAGGCTGGTCTCGAGCTCCCGATCTCCCGACCTCCCGACTTCAAATGACCCGCCCACCTCGACCTTCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCGTGCCCAGCCAGGATTTTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCACCCGGGCTGGAATACAGTGGTACAATCTTGGCCTCCACCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACCCACCACCACGCCCGGTTAACTTTTGGTTTTAAGACGGTGTCTTGCTCTGTTGCCCAGGCTAGGGTGCAATGGTGCCATCTTGGCTCACCGCAACCTCCACCTCATGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGCACCCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCCAAGGTGCTAGGATTACAGGCGTGAGCCACCGCTCCCAGCCGCACCGTTTTTTTCCTCCTTAAGAGAGCACTGATGCTCAGCTAGAGCTGACCTTAGAAGGTGAGGGGGAGAAAAGGCCACTGCAACACACTGCATTTCCTTACAGTGGTCTGTGCCGATTGACAAAAAGAAGAAGGTGTTCCAGTGTAACAGATGAGTGTCCCAGTAAAGGTTAACACTGATCAGGTAAACCGGGGGTGGGGGTAACAATAACACATTGATTCAGCTCAAGACCAGGTTCCATTTTTTCATTTGCCAGAGTGCCCACGGTGTCCTGCTGGCTGGGACCTTGCAGGTCGTCCTGGTTTGGAGTGGGGGATAGGAGGTGAAGGATGATGGAGGGGGCTATGTTGCAACGCTTCACCTGCTGGTCCCAGTGGCAGGTAACGGCTGCTCTTATCAGCAGGGGTAACCAAATGCCAAGTTGCATCAAGATCCTGGTGGTTTCCACTGGGCCAGCGCAGGCAAGGGTGGTGCGGGAAGAAGGCCACGTTAGGTACATAGGCCATGTCCAAATTCAGGTTCCATCCAGCAAGCTCCTATTTCTTGGACGCAGGCACTGCGTGGGAAGCGGACCGGCCGGGATTGCAGAGCTGGGCGCGCACCTCTTGCAGCTCTGTGCGCAGTTCCTCCAGGGCGCCCTGTGGCGGCGCCGCCTGCACCTGCGCCTGCAGCGCTTCCAGCGCCAGCGCCAGGTGGCCCACCTCGTCCCGCAGCGCGTTCCAGGCAGCACGCTGCTCCTCCTCCTTGTGGCGCTGCTGCGCCTGGTGGCGCCAGTACTCCAGCACTAGGCAGCCGCCGCTCACGATGAAGATGGTGGCTTCGCCCAGCAGCTCTGCGCCCAGCTCAGCTGCCGCCTCCTCGTTCAGCGGCTTGATGACCGTGCCCCGGAAGCCCATGATGCGCATCTTGGTCCGCATCTCCACCCAGTGATACACTGCGGGGGAAGAGAGGGGTCAGGCTGCGCTCTGGGAGCCCCCTGCAAGCCCCACCCCTCTCACCCAGGGAATGCAGTCACCTAGCCTGGGTAACCCAGGGGTCTTTTAAAAGACCAGATGATTCTAGCGAGCAGCCAGGAATAAGAAACACTGCCCCAGAAGGGAGGTCCTCGGACTTGAGGGGCCGCGCCCCAAGAGGGACACCAGGAGCTTCCACAGCGCCAAGTTCATGGACGGTGTAAAGGTCCAGTTGCCAGATGCTTAGTTCCCTGTGTTCCTCCCTTAAGCCACTGCCATCCTGGCTGTCCTGCCCTGGCACTGTCGCCCCACCCACTTCCCAGGAGAAAGACCAACCTCCTTTCTTGCCTTATTTTCCCAAAATGCAAAGTTGGGGCTACAGATGGGGGAGAGGGGGGCTCCTGGCTCCAAAGGGCAGCTTAAGGTGGCAGTCGATGCTAAGTGCCTCTGAACACTTAGATACACTTGTAATAATCAATCATTTTTGCAAGTCTGATGGCTCCAATCCTAGAATTTCATCAGCCCTGAAGGTGCAGCTAAGAGCTGCGAGCTCTTCACAGTGAGGTTTTGGGCACATACCTTGGTGGGAGCTCAAGAGGTGAGTGGTGCTGCTGGAACAAAAACTCCTTCCTTGCCTAGCTGCTTCTTTATGAAGGAAGGTTCTCAGCACTTGAGTCTTTAAAACCAATGCAGAATTGATGCTGCATCCTGACTCACTCCTGCAACAATTAATATTCATCCAAGGGCACATGAAACCACAGAGGGAACCCTTGTGTGGTGCCTTTGCAGACTCATTTGCAACATCTCCTTTTACTTTTAAGGTTTAGTAATTATTCATGAAAATGTATAAAAGATGAACTTTTTGTTGTTGTTGTTTTAGAGACGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCTCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGTCTAATTTTTCGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGATCATCTGACCTCGTGATCCACCTGCGTTGGCCTCTCAAACTGCTGGGATTACAGCCATGAGCCACCATGTCCATCCAAAAGATGAACATTTTAAAGTAACTGCGCACTAATAATTTCAAAATTAACTCAATCCAGAAGAAAATAACTTAGCATTTAGAACCTTATGGTCACAGGAAATTAACATGTAAATTTCTGTATGTATTTTGGTTGCCGACATATAAATCACTAGATGGAATTCTGTGGGTATGTGGACTGTAAATACAAAAGTACATGAACAAAAAGAAACCATGTGAAATTTCTGACTGAAAAAGAAGAGCTTGTTTTTATTTGTATTATTTTCGAGACGGGGTCTTGCTTTGTCGCCCCGGCTGGAGTGTAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTTCCAGGCTCAAATGATCCTCCCACCTCAGTCCCTTGAGTAACTGGGACTACAGGTATGCCTGGCTAATATTTTTTTTTTTTTTGAGATGGAGTCACACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCACCCGGGTTCACACCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTTTATATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTAGTCATTTTTGTATTTTTTTTAAAATAGAGATGGGGTT
Task1_train_27381
Gene LOC130064709, OPA3 (ATAC-STARR-seq lymphoblastoid active region 14802| outer mitochondrial membrane lipid metabolism regulator OPA3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; 3-Methylglutaconic aciduria type 3
AGATCAGATGGGCCAGTTTATTGATCTGGGTAAGGCCAGCTGATCCATCAAGTGCAGGGTCTGTGAAATATCTCAAGCACTGATCTTAGGAGCAGTTTAGGGAGGGTCAGAATCTTGTACCCTCCAGCTGCATGACTCCTAAACCATAATTTCTAATCTTGTGGCTAATGTTAGTCCTACAAAGGCAATCCAGTCGCCAGACAAGAAGGAGGTCTGCTTTGGGAAAGGGCTGTTACCATGTTTGTTTAAACTATAAACTACAAACTAAATCTCTCCCAAAGTTAGTTCAGCCTTTGCCCAGGAATGAACAAGGATAGCTTGGAGGTTAGAAGCAAGATGGAGTAAGTTAACTTAGATCTCTTTCGCTGTGTCAGTCATAATTTTGCAAAGGCGGTTTCAGTGGTTCTCTGACCCAGCCAATGATGCTAAATTCCCTTATTTTATGTCCCACGTAGCACAACACAGATCACCTTTTTTTTTTTTGGAGACGGAGTCTTGCTCCGTCACCCAGGCTGGAGTACAGTGTTACGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCGCCCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGATCACCTTTTTAAAGTAGTTTATATTTTGGGTGTTTACTAAGCCCTTTATTTCTATTTATTATTTTTTGAGACAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTAGGCTCACTGCAGCCTCCACCTACCAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTACAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACCGCGCCGGACCTTACTATGCCCTTTAGATCTGAGCTCGGGCGGCCCCCTCTAGGCAGCCCTGCTGGCCTCAGGTCCCTGGGTCAGCCAGTTCCTCTGAGCTCCGGGGCTCCCACTTTCCCGACCACTCTGGGTTGACAGTGATGGATCAGGAGTATATCTCCCAGTGCTGAGCAAAAAGGCCGCATAGTCTGTCAACCGAATGAAAGGACGGCGTATGAGCGCATTAATGAGTACACAGATGAATGTCCTCTCTGGCTCAAAGTCCTTTTCCGGATTCCCAGGCCATGTCTCCAGAACCCAGACTTCACCCCCGAACCATGCCCCTAATCCAGACTTATTGACTACAGTAAAACTGAGGCACGTCGACGTCCTAAACGGAGGATATACAAGCACCTCCTAGATCAGTGGGGAAACTGAGGCACACGGTGCCGCTTTTGAAATGAAGTTGCCCAAGGACAGCCGGGCAAAGGACCCCGTCCGGTTTCTCCTCAGCCCCTCCCCTAGCTCCTCTATCCTGGAAAGCCCCGTCCAAATTTCTCCCATCTCTCACACTATTGGTTTAACAGGGCATCAGTCTCCAAGCGCTCTCTTCCTTTATCGGCTGGCATTTCCTACTCGCGTGGTGGCTCCTTGACCCGCCCCTTACGCCCCGCCCCGCCCTCACTACTGGGCCACCCGTACGCCCCTCTATCAGAAACCCCCCACTATTGGCCACTGGACTTTGCCGGTTCGGGCTGTGATTGGTCGTAGACAGAAGTCCATCCCCTAAGCAACCACCTGACAGGGGTTGGAGAAAGGAAAAAGGTTGGAGGGAATTCGGGTCAGACTCACGTTGAGCCGGCGGGAGGCAGATATAGGTCTTGAAGAACTCGCTTCGGCGGGCGGCCTCCTTAATACGGTTGGCAAGCGGCTTGCTGACCTGCCGGATGCCCAAGTATAGCAGCTTCGCCATAGGGAACGCGCCCACCACCATCTTGGCGGTCTCACAGGGCACGCGCAACCTTGCTGACTGGGCGGGGCGCCTCAACCTCTTCACTCCTCCCCCGCCCTCTCGTGGCCATGCGTGCGTCAGTACGTATGTACGTACGCTCGAGGGAAACTTCAGAGGCGCATCCTGACGTCACCCCGTCGACGCTGGCGTAGCGACGTCCGTTCGCTGAATATGCAAATATACACGGAAGTGAGGCGGGTCAGGGGGCGGTGCCGTTAAACGGATGCTGGAAGGCGTGTGGATTCCCACGCCCGCCTTGGCCAACGTCACTGTACTCCTTCGTGATGTCACGTTCCGAGTTGGCGTCCCCACCCAAAGGAGGCTCTTAATTAGTCCTAATTAGTCCTATGAGCCCCAAATACACCTTCCTCTGCAAGCTAGGGCTCTCATTGGGATTAAGAGGAAGCCGCGCGGTCATACAGACTTTGGCTGGGATCCCAGCTCTGCCATTTCCTCGCTGTGTAATATTAGATGAGTGGCATAACCTCTCTGGACTTCAGTATTACCGTCTACCAAATGGGAATCCTAATAGCAGTTGCCTCTTTGGGTTGTTGTGAGGCTTCTATGCTAATCTTGAGTGTAAAACAGTGGACCATGGGAAGTGGTTAGAATGGTGCCATTCATATAGTTAAGCGCTCAGTAAATAGCCCTTCTTACTATACAGGTCATGATTGCATTATTAATGCTAAATCCAGCCTGAGGGTGCATTTCACCCCCAGAAGCAGCGAATCCAACCCTTTCCCAAGTAACTGACAAGGAAACTGAGGCCCAGAGCAGGGCAGGGGGTGGCACAAGGTTCCTGCAGAGGTTGATAGCCTGGCATCTTGGCCAATAAAACCATACCCGTTCTCAAGCAACCCAACTTCCTTCATTAGGAGGTAGGTTCCCCAGGGAGCTAGTTCAGAAATAAATTTAAGGACATGTCCCAGACTGTCCTTTCTTACCCAGCAGGGAGTAAAATCATATAAACAATGTCAGGAAGGGGTTGAGAGAAATTCCTGGATGATGGAGTGCTGATGGGTAATTGAGAGATTCTCGGAGGCAGAGGGACAGAAGAAAACAGGAACAGAGGACTGGCCGCCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCTAACATCGTGAAATCCCATCTCCACTAAAAAAAAAAAAAAATTTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGGTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGTCTTGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAAACAGGAACAGAGGAGTGGTGTGTAGGAGGAAACATACATTCAGGACACAGAATCAGGGGGCTCTGGACTTCTTTGGTATCCAGTCTGACTCTCTGAGTGTCCTTTGTCAAGCTCCTGGCACTGAGGGACCTGCGTTTCCTCATCTTTACTGATGGTGCTGGTGTGTGTGTGAACCCTGATATTCTGAATTACTAAGAATGCCAGGATTCCATAAAAACAACCTTTTCCAGGGTCCCTTCCACACGGAAGGTATGCAGAAACTTGGGACTACCTAAGGTCCATCATCCATTTGGGACCAGCCCCCTTCCCATTTTACAGATCGTTTGAGCCTGGGAGGTTGAAGCTGTGGTGAGCCATGAGCTCCACTGCACTCCAGCCTAGGCAACACAACAAGACCCTGTCTCAAAAAACATAAAATTTCTGTCCCCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCACAGGTAGGCGGATCATGTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAATTCGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGA
AGATCAGATGGGCCAGTTTATTGATCTGGGTAAGGCCAGCTGATCCATCAAGTGCAGGGTCTGTGAAATATCTCAAGCACTGATCTTAGGAGCAGTTTAGGGAGGGTCAGAATCTTGTACCCTCCAGCTGCATGACTCCTAAACCATAATTTCTAATCTTGTGGCTAATGTTAGTCCTACAAAGGCAATCCAGTCGCCAGACAAGAAGGAGGTCTGCTTTGGGAAAGGGCTGTTACCATGTTTGTTTAAACTATAAACTACAAACTAAATCTCTCCCAAAGTTAGTTCAGCCTTTGCCCAGGAATGAACAAGGATAGCTTGGAGGTTAGAAGCAAGATGGAGTAAGTTAACTTAGATCTCTTTCGCTGTGTCAGTCATAATTTTGCAAAGGCGGTTTCAGTGGTTCTCTGACCCAGCCAATGATGCTAAATTCCCTTATTTTATGTCCCACGTAGCACAACACAGATCACCTTTTTTTTTTTTGGAGACGGAGTCTTGCTCCGTCACCCAGGCTGGAGTACAGTGTTACGATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCGCCCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTTCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAAGATCACCTTTTTAAAGTAGTTTATATTTTGGGTGTTTACTAAGCCCTTTATTTCTATTTATTATTTTTTGAGACAGTCTTGCTGTGTCGCCCAGGCTGGAGTGCAATGGCACAATCTAGGCTCACTGCAGCCTCCACCTACCAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTACAGACCGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCATGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACCGCGCCGGACCTTACTATGCCCTTTAGATCTGAGCTCGGGCGGCCCCCTCTAGGCAGCCCTGCTGGCCTCAGGTCCCTGGGTCAGCCAGTTCCTCTGAGCTCCGGGGCTCCCACTTTCCCGACCACTCTGGGTTGACAGTGATGGATCAGGAGTATATCTCCCAGTGCTGAGCAAAAAGGCCGCATAGTCTGTCAACCGAATGAAAGGACGGCGTATGAGCGCATTAATGAGTACACAGATGAATGTCCTCTCTGGCTCAAAGTCCTTTTCCGGATTCCCAGGCCATGTCTCCAGAACCCAGACTTCACCCCCGAACCATGCCCCTAATCCAGACTTATTGACTACAGTAAAACTGAGGCACGTCGACGTCCTAAACGGAGGATATACAAGCACCTCCTAGATCAGTGGGGAAACTGAGGCACACGGTGCCGCTTTTGAAATGAAGTTGCCCAAGGACAGCCGGGCAAAGGACCCCGTCCGGTTTCTCCTCAGCCCCTCCCCTAGCTCCTCTATCCTGGAAAGCCCCGTCCAAATTTCTCCCATCTCTCACACTATTGGTTTAACAGGGCATCAGTCTCCAAGCGCTCTCTTCCTTTATCGGCTGGCATTTCCTACTCGCGTGGTGGCTCCTTGACCCGCCCCTTACGCCCCGCCCCGCCCTCACTACTGGGCCACCCGTACGCCCCTCTATCAGAAACCCCCCACTATTGGCCACTGGACTTTGCCGGTTCGGGCTGTGATTGGTCGTAGACAGAAGTCCATCCCCTAAGCAACCACCTGACAGGGGTTGGAGAAAGGAAAAAGGTTGGAGGGAATTCGGGTCAGACTCACGTTGAGCCGGCGGGAGGCAGATATAGGTCTTGAAGAACTCGCTTCGGCGGGCGGCCTCCTTAATACGGTTGGCAAGCGGCTTGCTGACCTGCCGGATGCCCAAGTATAGCTGCTTCGCCATAGGGAACGCGCCCACCACCATCTTGGCGGTCTCACAGGGCACGCGCAACCTTGCTGACTGGGCGGGGCGCCTCAACCTCTTCACTCCTCCCCCGCCCTCTCGTGGCCATGCGTGCGTCAGTACGTATGTACGTACGCTCGAGGGAAACTTCAGAGGCGCATCCTGACGTCACCCCGTCGACGCTGGCGTAGCGACGTCCGTTCGCTGAATATGCAAATATACACGGAAGTGAGGCGGGTCAGGGGGCGGTGCCGTTAAACGGATGCTGGAAGGCGTGTGGATTCCCACGCCCGCCTTGGCCAACGTCACTGTACTCCTTCGTGATGTCACGTTCCGAGTTGGCGTCCCCACCCAAAGGAGGCTCTTAATTAGTCCTAATTAGTCCTATGAGCCCCAAATACACCTTCCTCTGCAAGCTAGGGCTCTCATTGGGATTAAGAGGAAGCCGCGCGGTCATACAGACTTTGGCTGGGATCCCAGCTCTGCCATTTCCTCGCTGTGTAATATTAGATGAGTGGCATAACCTCTCTGGACTTCAGTATTACCGTCTACCAAATGGGAATCCTAATAGCAGTTGCCTCTTTGGGTTGTTGTGAGGCTTCTATGCTAATCTTGAGTGTAAAACAGTGGACCATGGGAAGTGGTTAGAATGGTGCCATTCATATAGTTAAGCGCTCAGTAAATAGCCCTTCTTACTATACAGGTCATGATTGCATTATTAATGCTAAATCCAGCCTGAGGGTGCATTTCACCCCCAGAAGCAGCGAATCCAACCCTTTCCCAAGTAACTGACAAGGAAACTGAGGCCCAGAGCAGGGCAGGGGGTGGCACAAGGTTCCTGCAGAGGTTGATAGCCTGGCATCTTGGCCAATAAAACCATACCCGTTCTCAAGCAACCCAACTTCCTTCATTAGGAGGTAGGTTCCCCAGGGAGCTAGTTCAGAAATAAATTTAAGGACATGTCCCAGACTGTCCTTTCTTACCCAGCAGGGAGTAAAATCATATAAACAATGTCAGGAAGGGGTTGAGAGAAATTCCTGGATGATGGAGTGCTGATGGGTAATTGAGAGATTCTCGGAGGCAGAGGGACAGAAGAAAACAGGAACAGAGGACTGGCCGCCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACCTGGCTAACATCGTGAAATCCCATCTCCACTAAAAAAAAAAAAAAATTTAGCCGGGCATGGTGGCGGGCACCTGTAATCCCAGGTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGTCTTGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGGAAAACAGGAACAGAGGAGTGGTGTGTAGGAGGAAACATACATTCAGGACACAGAATCAGGGGGCTCTGGACTTCTTTGGTATCCAGTCTGACTCTCTGAGTGTCCTTTGTCAAGCTCCTGGCACTGAGGGACCTGCGTTTCCTCATCTTTACTGATGGTGCTGGTGTGTGTGTGAACCCTGATATTCTGAATTACTAAGAATGCCAGGATTCCATAAAAACAACCTTTTCCAGGGTCCCTTCCACACGGAAGGTATGCAGAAACTTGGGACTACCTAAGGTCCATCATCCATTTGGGACCAGCCCCCTTCCCATTTTACAGATCGTTTGAGCCTGGGAGGTTGAAGCTGTGGTGAGCCATGAGCTCCACTGCACTCCAGCCTAGGCAACACAACAAGACCCTGTCTCAAAAAACATAAAATTTCTGTCCCCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCACAGGTAGGCGGATCATGTGAGGTCAGGAGTTCGAGACAAGCCTGGCCAACACGATGAAACCCCATCTCTACTAAAAATACAAAAAATTCGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCTACTCCAGAGGCTGA
Task1_train_27382
The gene LOC107075317, SIX5 (origin of replication in DMPK trinucleotide repeat region| SIX homeobox 5) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Branchiootorenal syndrome 2
AAAATGGAGGCATAACATGTCCTAGAAAAATAAAGATTTAGGATACAAAGGAGACACAGCGGCAGGGCTGCCCCCAGGGATGAGGGAATCTTTGGTCTGGGCCGGATAATGAGGACAAGGGCTTGAGTCGAGGGGAGCTGGTGAAGGAAGACCCCCGTCTCCCCACAGCTGCCCCACCCCCCGCCCCTGGCAGGAAATGCCACACTGGGGAGGGTCTCCAGTCTCAGGGGCGCGGGGCTGCCTGTCCTCCACCTTCGGATTCCAGGCAGTTGTGACAACACCAGCTATCGGCAGAGCTATTAATAGTGTTTCAGGGAGTGACAGGGAGAGGGCTCTGGGGGCTGGAAGTCCGGCCCTGGGGCAGGGTGTTCCGCTTACAGCTAGTACCAAGTGGAGGGGGCAGGGCCCCTGAGTCAGGACCCTGAGTCCCCCACGTATATGGCAGGGCACAGCATGGGGAGGGCTGTAACAGAGAGGCCTCCCATCCAAAGGGGGATGGAGACCTGGACAGGAGGTGGCCGGGGATACAACCCCCAGCACCACCAGGGCTTGGAGAGGCCACCCAGGCAGAAGGATGTGGTGACTGGGGTCTTCAGCAACCGCATTTCTGGGGCTCCCCCCTCCCATTCCTGTCCCTGCGTCTTCAGCACCAATGTCGGGAGAGGCCACGGGGCCACACTGGGTCACAGTTCCAAGGGCTCCTCCACAGGCACCGACTGGAGCTGGGTCAGAACCTTGGCCTCAGCTTCCAACCCCTCGTCAACCTCACCCCCTGCGGTGGCCCCCAGGAGCAGCCCCTCAGGGTCGGGGTCTGGCAGCCTCAGCACGGTGTGGGGGGCCTGTGTCCCCAGCCCCTTTTCCGCTTCCAGCAGCCCCTCTGTTCCTGCGCTTAGTTCCAGCCCTGCTGACCAGACAGGCACGGCCGCGGGTGACAACATCAGCCCCTCTGGTGGGGGCGCCGGGAAGTTGGGCAGGAGGCCAGGGGAGTCAGGGGAGAAGGGCAGGCTGGTGCTGGAGGTGGTGGCAGCGGCGGGGGGTGGCTGCTGTGCAGAAAGGGTGCCTAGGGCGTGAGCCTCTGGGAGAGCAGGGCTGGGGGCCACCGGGAGGCCTCCCTCAGGCACGGAGATGGCCGTCTCTGGCTTCAGTGGCAGGGCCAGGCCGGGGGCTGGCGGCAGGACCTGGGAGACGAGCATGCTGGTGGGGAAGGTGGCGGTGAGGATGATCTTGCCCTGCTGCAGGGCCACACCCGTCACGATGGGGCTGCCAGACACAGGGTTGGCCAGGAGGAAGTTTCCTGTGGGGAGAGAGGGACCGAGCGCAGGTGAGAGCCAGGAGAGCAGGCCAAGCCAGAGAGAAGTGGAGACTGTGCAGCTGGAGGGCGGGCGGAGGGAGCCTTGTGGTGGGCCTTGGGGCACTGGGACTTGCCAGGGATGAGATGCCCTCCAGGAGCCCAGGGACAGCCCCTCCCTCTCCGAGATGACTGCACCCCTCCCCGGCTCTCACCTAGGCCTGAGGGAGGGAGATGGGGGTACCTGGGGCAGTGGCCGAAGGCAGCTGCAGGGCAGTCACGCCCACCCCGGAGTTGATGAGGTGCACATTGGCAGGGCCTGCTGCAGCTGCCACCTTCACAGGGCTGCCTGGCCCGGCTGCCAACAGCTGCAGGGGCCCCACAGCCTGGGGCAGGGTCACCACCTGTGAGGTGGGTACTACCTGGGGCAGGTTCAATAGTGGGGAGGTGGGGCTCAGGCCCGTGGGATACCCCGGGGGTGGGGAGAGCGGTACCACTTGTGGGGCAGCCACAGCAGGCACTGGCCCCGGGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCCGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACTGCTGGGGAGCCGCTGGCTGCCAGGAAGCTCCCGTTCACCAGGATGGAGGAGGAAGCCGGGCAAGGCGCGGGAGGGCCGGTCCCTGCCAGGAATATGGAGCCCTGGGCAGCGGCCTCGGCGGACACTGGGGCCGCCCCTCTCTCCAGGTCCTCAGGACTTCGGCTGGACTCGTCCTCAGTCGTGGGATTCCCATCAGACTCGCTGGCCGGAGAAATGGCTGTCAGCTGGGGTCCCTTAGCCTGTGGGGCCTCCCGCATAGCCAGCCAGCTGCTCCCCCACCTTTCCCTGGCCCAAGTTTCGGTGGATCATTCCAGGGGTTATGACGCCTCTCTGAGACCACTCCAAACTCCAGGGCCTTTTGCAAGCCCTGCGTGGACACCACTGCAGAGAAGCGCTGGGGAGGGAAGAGGCCCTTGCTCTCCCCCACCTCGGCCTCGGGTCCCCAGAGGCTGAGCTCCCAGGTTGCCCTAAAAGTTCCTTGGTTGGGCGGAAAGCGGGCGAGTGGCCTGGAGAGAGGGAGCAGCAGCCGCCAGCCCAGTTCCCGGTGCCCTCCCCGCGGGGCGTCAGAGAAGGGAGAGGCCGGCGCTCAGGGTGGGAGGAGAAGGGTTTGGGTTACAGGGAAACCGGAGCTGGGAAAGGTTCACGTTTCACAACAAAGGCAGAAGACGGACCACGCCGTCCGGGCCCGGAGGGAGTGTGGGGGCGGGTGGGTAAGAGTAACGGTCAGTGAAGAAAGGGGGCTGGGAGGCAGCCCCTACGCGGAGTGGAGTGGCCACAGGCCCTGTCCTTTTTCCTCAGTCCCTCTAGTGCCCCCCGCAGTGTGATTCCCCAACACCGATGGGATTTGGGAAGGAGCTCGGAATGGAGCCGCTGGAAGAGGAGACGCGTGCGGGGAGAGGGCCCGGGCGGGTGCCTGTCCCGTCCACACTTAGTCCCCGCGCCCCGCGGGCGCCTGAGATTGTGAGCTGGTCCCGGGAGATGTCCGAGGACCTCGGCGCGCCGGCCCCAGCAGTGGGCACGGGGGAAGAGGGCTGGTGGACGGGATGTCCCCGGGAGAGCTGGACTTGCGCCGCCCGAGGCCCCTCACCTCTTGCAGGGCGCGCCGCCTCCGGCCCCGGTCCGGTCGCGCTGTCGCCGGTTCTTGAACCAGTTGCTGACCTGCGTGAGCGACAGGCCGGTGAGTGTGGCCAGGCGGCGCTTCTCGTCCGGCGTGGGGTAGCGGTTGCCGCGGTAGCAGGCCTTGAGCGCTGCGCGGGAGCGCTCCTTGAAGCAGTAGACTGTCTCCTCGCCGTCCCAGATGGTCTTGGGCAGCGGGAACTTCTTGCGCAGTCGATACTTGTCCACTGCGCCAAGCGCGCGGCCGCGGGCCCGCTCGGCCTCATGGTAGCGCGCGCGCAGGTAGAGGTCCTGCAGGAAGGCGTGGTGGGCGGCGGGGAAGGGGCGGCTCTCGAGTAGCCGGTAGAGCTCGGCGTACTCGCCCCGCTGGAAGGCCACCAGGGCCCGCGCGCGCAACACCGGGTCGCTGCCACGTAGGCGCTCGGCCGGGGGCAGTGCGCCCAGGAAGCGGCTCAAGCGGCCGGCGTGGCCCGCCTGGAGCAGCGCCTCGCAGACGCACGCCACCTGCTCGGGCGAGAAGCGGAGGCCCGTGGGCGGTTCGGAAGCGGCCTCGGGGGGCGACCCGGGGACGCCCGGGGATCCCGGGCCCTCAGCTCCCGCAGCCGCTGCGCCCGCCCCGGCCCCGGCCGCCGCCGCCGCCTCACCCTCGGCCGCCTGCAAAGTCTGCAAGAGCTGGCGCGCTTCCTCCTCCTCCTCTTCGGTCGCCGCCGCCGCCGCCACCGCCTCCCCCCCAGCCGCCGGCCCCGCGCTCGGCTCCGCAGGCAAGGTAGCCATGTTTTGCAACTTTGGGAAGTTCCTCCCTCCCTCTCTTCCTCCCTCGGGCTTTCCCCAGCCTCCTCCCCC
AAAATGGAGGCATAACATGTCCTAGAAAAATAAAGATTTAGGATACAAAGGAGACACAGCGGCAGGGCTGCCCCCAGGGATGAGGGAATCTTTGGTCTGGGCCGGATAATGAGGACAAGGGCTTGAGTCGAGGGGAGCTGGTGAAGGAAGACCCCCGTCTCCCCACAGCTGCCCCACCCCCCGCCCCTGGCAGGAAATGCCACACTGGGGAGGGTCTCCAGTCTCAGGGGCGCGGGGCTGCCTGTCCTCCACCTTCGGATTCCAGGCAGTTGTGACAACACCAGCTATCGGCAGAGCTATTAATAGTGTTTCAGGGAGTGACAGGGAGAGGGCTCTGGGGGCTGGAAGTCCGGCCCTGGGGCAGGGTGTTCCGCTTACAGCTAGTACCAAGTGGAGGGGGCAGGGCCCCTGAGTCAGGACCCTGAGTCCCCCACGTATATGGCAGGGCACAGCATGGGGAGGGCTGTAACAGAGAGGCCTCCCATCCAAAGGGGGATGGAGACCTGGACAGGAGGTGGCCGGGGATACAACCCCCAGCACCACCAGGGCTTGGAGAGGCCACCCAGGCAGAAGGATGTGGTGACTGGGGTCTTCAGCAACCGCATTTCTGGGGCTCCCCCCTCCCATTCCTGTCCCTGCGTCTTCAGCACCAATGTCGGGAGAGGCCACGGGGCCACACTGGGTCACAGTTCCAAGGGCTCCTCCACAGGCACCGACTGGAGCTGGGTCAGAACCTTGGCCTCAGCTTCCAACCCCTCGTCAACCTCACCCCCTGCGGTGGCCCCCAGGAGCAGCCCCTCAGGGTCGGGGTCTGGCAGCCTCAGCACGGTGTGGGGGGCCTGTGTCCCCAGCCCCTTTTCCGCTTCCAGCAGCCCCTCTGTTCCTGCGCTTAGTTCCAGCCCTGCTGACCAGACAGGCACGGCCGCGGGTGACAACATCAGCCCCTCTGGTGGGGGCGCCGGGAAGTTGGGCAGGAGGCCAGGGGAGTCAGGGGAGAAGGGCAGGCTGGTGCTGGAGGTGGTGGCAGCGGCGGGGGGTGGCTGCTGTGCAGAAAGGGTGCCTAGGGCGTGAGCCTCTGGGAGAGCAGGGCTGGGGGCCACCGGGAGGCCTCCCTCAGGCACGGAGATGGCCGTCTCTGGCTTCAGTGGCAGGGCCAGGCCGGGGGCTGGCGGCAGGACCTGGGAGACGAGCATGCTGGTGGGGAAGGTGGCGGTGAGGATGATCTTGCCCTGCTGCAGGGCCACACCCGTCACGATGGGGCTGCCAGACACAGGGTTGGCCAGGAGGAAGTTTCCTGTGGGGAGAGAGGGACCGAGCGCAGGTGAGAGCCAGGAGAGCAGGCCAAGCCAGAGAGAAGTGGAGACTGTGCAGCTGGAGGGCGGGCGGAGGGAGCCTTGTGGTGGGCCTTGGGGCACTGGGACTTGCCAGGGATGAGATGCCCTCCAGGAGCCCAGGGACAGCCCCTCCCTCTCCGAGATGACTGCACCCCTCCCCGGCTCTCACCTAGGCCTGAGGGAGGGAGATGGGGGTACCTGGGGCAGTGGCCGAAGGCAGCTGCAGGGCAGTCACGCCCACCCCGGAGTTGATGAGGTGCACATTGGCAGGGCCTGCTGCAGCTGCCACCTTCACAGGGCTGCCTGGCCCGGCTGCCAACAGCTGCAGGGGCCCCACAGCCTGGGGCAGGGTCACCACCTGTGAGGTGGGTACTACCTGGGGCAGGTTCAATAGTGGGGAGGTGGGGCTCAGGCCCGTGGGATACCCCGGGGGTGGGGAGAGCGGTACCACTTGTGGGGCAGCCACAGCAGGCACTGGCCCCGGGGGCAGAGGAAAGGTGGCAGCCGTCGGGGGGCCAGGCACCACTTGGGCCAGGGGCCCCAGGACCTCCTCTCCAAGGGCTGGTCCCGGAGCAGCCACCTGGGCCCCTTTGGTCTCAGGGGCCTCCGACTGAGCCTCCTCCAGCCGCACCTCCCCTGTCTGAGGGTCCAGGACCAGAGAGGTCTTGGTCTCGCTGGCCCCCTGAGGGCTGGGCTGCGGTGGAGGGGCACCCCTGCCCCCAGTGAGCAGCAGCGGGCCCAGGCTGGAGGCCTCGCCCAGGGCCAGGCCGTTGATGATGACGGGGCCCCCGTTGAGGAGCACTGCTGGGGAGCCGCTGGCTGCCAGGAAGCTCCCGTTCACCAGGATGGAGGAGGAAGCCGGGCAAGGCGCGGGAGGGCCGGTCCCTGCCAGGAATATGGAGCCCTGGGCAGCGGCCTCGGCGGACACTGGGGCCGCCCCTCTCTCCAGGTCCTCAGGACTTCGGCTGGACTCGTCCTCAGTCGTGGGATTCCCATCAGACTCGCTGGCCGGAGAAATGGCTGTCAGCTGGGGTCCCTTAGCCTGTGGGGCCTCCCGCATAGCCAGCCAGCTGCTCCCCCACCTTTCCCTGGCCCAAGTTTCGGTGGATCATTCCAGGGGTTATGACGCCTCTCTGAGACCACTCCAAACTCCAGGGCCTTTTGCAAGCCCTGCGTGGACACCACTGCAGAGAAGCGCTGGGGAGGGAAGAGGCCCTTGCTCTCCCCCACCTCGGCCTCGGGTCCCCAGAGGCTGAGCTCCCAGGTTGCCCTAAAAGTTCCTTGGTTGGGCGGAAAGCGGGCGAGTGGCCTGGAGAGAGGGAGCAGCAGCCGCCAGCCCAGTTCCCGGTGCCCTCCCCGCGGGGCGTCAGAGAAGGGAGAGGCCGGCGCTCAGGGTGGGAGGAGAAGGGTTTGGGTTACAGGGAAACCGGAGCTGGGAAAGGTTCACGTTTCACAACAAAGGCAGAAGACGGACCACGCCGTCCGGGCCCGGAGGGAGTGTGGGGGCGGGTGGGTAAGAGTAACGGTCAGTGAAGAAAGGGGGCTGGGAGGCAGCCCCTACGCGGAGTGGAGTGGCCACAGGCCCTGTCCTTTTTCCTCAGTCCCTCTAGTGCCCCCCGCAGTGTGATTCCCCAACACCGATGGGATTTGGGAAGGAGCTCGGAATGGAGCCGCTGGAAGAGGAGACGCGTGCGGGGAGAGGGCCCGGGCGGGTGCCTGTCCCGTCCACACTTAGTCCCCGCGCCCCGCGGGCGCCTGAGATTGTGAGCTGGTCCCGGGAGATGTCCGAGGACCTCGGCGCGCCGGCCCCAGCAGTGGGCACGGGGGAAGAGGGCTGGTGGACGGGATGTCCCCGGGAGAGCTGGACTTGCGCCGCCCGAGGCCCCTCACCTCTTGCAGGGCGCGCCGCCTCCGGCCCCGGTCCGGTCGCGCTGTCGCCGGTTCTTGAACCAGTTGCTGACCTGCGTGAGCGACAGGCCGGTGAGTGTGGCCAGGCGGCGCTTCTCGTCCGGCGTGGGGTAGCGGTTGCCGCGGTAGCAGGCCTTGAGCGCTGCGCGGGAGCGCTCCTTGAAGCAGTAGACTGTCTCCTCGCCGTCCCAGATGGTCTTGGGCAGCGGGAACTTCTTGCGCAGTCGATACTTGTCCACTGCGCCAAGCGCGCGGCCGCGGGCCCGCTCGGCCTCATGGTAGCGCGCGCGCAGGTAGAGGTCCTGCAGGAAGGCGTGGTGGGCGGCGGGGAAGGGGCGGCTCTCGAGTAGCCGGTAGAGCTCGGCGTACTCGCCCCGCTGGAAGGCCACCAGGGCCCGCGCGCGCAACACCGGGTCGCTGCCACGTAGGCGCTCGGCCGGGGGCAGTGCGCCCAGGAAGCGGCTCAAGCGGCCGGCGTGGCCCGCCTGGAGCAGCGCCTCGCAGACGCACGCCACCTGCTCGGGCGAGAAGCGGAGGCCCGTGGGCGGTTCGGAAGCGGCCTCGGGGGGCGACCCGGGGACGCCCGGGGATCCCGGGCCCTCAGCTCCCGCAGCCGCTGCGCCCGCCCCGGCCCCGGCCGCCGCCGCCGCCTCACCCTCGGCCGCCTGCAAAGTCTGCAAGAGCTGGCGCGCTTCCTCCTCCTCCTCTTCGGTCGCCGCCGCCGCCGCCACCGCCTCCCCCCCAGCCGCCGGCCCCGCGCTCGGCTCCGCAGGCAAGGTAGCCATGTTTTGCAACTTTGGGAAGTTCCTCCCTCCCTCTCTTCCTCCCTCGGGCTTTCCCCAGCCTCCTCCCCC
Task1_train_27383
Gene CALM3 (calmodulin 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Long QT syndrome 1
AGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGA
AGATGTGAGTTCCATTGAGTTTGGGACTTGGTTTTGTTGGTCCCTGCTATAGCCTTAATGCCTGCCTAGAACGTAGTAGGTCCTCCGCAAACTTTTGCTGGCTAAACAAACATCTCTCTCTCAGCAAGCTAGAAGAAATCCCTGGATCCCATCTAATTCATTTTTCTAACCCCTCCAAAACCCCAGAAGGGTCAGCTACAGGAACTATTGTGTAATTACAGATCCGTGCCTGCCTACCCGCCCATACTGAGCTGCCCGAGGACAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGCCAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGA
Task1_train_27384
A variant has been detected on Chromosome 19 in CALM3 (calmodulin 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Long QT syndrome 1
CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAA
CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGCATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAA
Task1_train_27385
A variant has been detected on Chromosome 19 in CALM3 (calmodulin 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Long QT syndrome 16
CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAA
CAGAGAGCAACTCTTGGTTTATCTCCATAGCCAGGGGCCAGCACACAGTAGACCAGAGTAGCGATCCAGAGAATGGGCCTCTGCTCCCCACCAGCTACCCAGCCCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGCATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAA
Task1_train_27386
Gene CALM3 (calmodulin 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Long QT syndrome 16
CCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTG
CCCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGGCATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTG
Task1_train_27387
A mutation found in CALM3 (calmodulin 3) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Long QT syndrome 1
CCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGT
CCCAGCTCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGAGATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGT
Task1_train_27388
Gene CALM3 (calmodulin 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
TCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGA
TCTGCTGTCAGGTTCAACCGGCTGTGTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGAAGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGA
Task1_train_27389
Consider this mutation in CALM3 (calmodulin 3) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Long QT syndrome 1
GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAG
GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAAGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAG
Task1_train_27390
Here is a genetic alteration in CALM3 (calmodulin 3) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Long QT syndrome 16
GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAGGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAG
GTAACAAGTACTAAAGGCCCAGCTTCTGCGGTGGGAGGCAGGAACGGACTTGCCTTCTCTCCTTTCTCCCCTCAACCCGCATCACAGAGTCACCTTTGCAGCTTCAAAATTTTGGCCCTGGGTGGCTATGGAGACCCCTGAGGAAAGCCAGAAGATGGCCTGGTTTAGTGATCATGAGCTCGGGGTGCCCCATGACCCACTCACTACCTGCCCTCCCCAAGAACAACAAGGCCTCAGCACAGGGAGGTGCCAGCCTCCCCAAAGAGACTCTTGCCATGTCCCCAGGGCCCAGAGGCTCAGGGCCACAGCTTCCCAGCTGTGCATGTCCCTCCCAATGCACCTGCCACCCATCTCCCAACTCTGGCCTTGTGCAACATAAACGGTCTGCTTTTCACCCTGTCCCCATTAGCAAACTGTCCACCGCCTCACCCCAGCCCACACCCTCTGGGAATAGGCTGCCGGACATCTGTTTTTGGAGGGCTTGGGGGTAGAGGAGCACCAGGTGCCAAAATGGGCCCAGTGGGAGGGCAAGAGCCATGTGCTTTTCTCCCTGCCCCTGATGCGGCCCCAGCTGTGGCCTTCCCACTCAGCACTGCTAGCTCCTCATCCTCCTGGCTTGGCAGCCGTCCCCTCGCTTTCCATCCCCCCATCAACCCCACGCACTGTCCGTCAGCCATGTTCTGCTGCCGACCACCCCCACGCTCACCACACGCAGTGGCTCAGCTCCTTTGGAAGCTGGTAGCACCCACGGCAAGGAACAGGGCTGCCAGTCAGAAGGGAGTGGATGCCTGCATTTCCTCTTCAGGCCGGCCAGAGGCATTCTGCAGCCTCCCCTCCTCGTCCCAGCCAGCCAACCCTGGCTAACACACTCAGACAAAGAATCCTTTCGGCTCTCATTCACTCCATGACTTTGGTTCATTTCATCATTTCAAGGGAGAAGTCAAAGCCAGGGACCAAACAGAAATGTAGAATCATCTAAGGACAGCTGTCAGACCATTTTCCCCACTGTCTTCACTGGCTGGCCAGAAAAATAGCTTCACCTAGCACAGTGTTGATGTTCAATAACTGTTGAATGAAGGTTGGAAGGGCTTTGCCCTGAGCACTGAGGAGAGAGAGCTGGTTGCGTGGGACTTGAAGTCTGTCTCAGTTTCTTTAGGTGGGACTGATGCCCTTGGCCTTCCTCCAGGGAAGGCATCCAGCATCCAGAGGTAAGGATTCTCCTGTGGACCTTGTGACCTCTGACTCCTCCCCCTTCTTCCCCCAGAGTTCAAGGAGGCCTTCTCCCTCTTTGACAAGGATGGAGATGGCACTATCACCACCAAGGAGTTGGGGACAGTGATGAGATCCCTGGGACAGAACCCCACTGAAGCAGAGCTGCAGGATATGATCAATGAGGTGGATGCAGATGGTGAGCCCCACAGAGCGCGTGGGCAGCCCTGCTCCTGGTCACCCCGAGTGACTGCAGGGAGCCTCTCTCAGGGTGATGGATGAGCCCGTGTCTCTCAGGGCCCAGGCCAAGAGCATTCTCCATCCTTTCCCCACCTTCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGAAGGACACAGACAGTGAGGAGGAGATCCGAGAGGCGTTCCGTGTCTTTGACAAGGTAAGCAGCCCTCTCCAGGGGCGGCTCTGAGACTGACGCCAGCCTTCAGGCAGACAGGCGGAACTGGAGCCACGGAGCTACCACTTCCAGGAGGTCCGGGTCCCGGTGCCAGCCTCATTGCCAACCTGCTCTGCCACCTCAGGCAGCCTCCCTCACTGTGCTCACTGCTGAGGGATGGTGATGACAGCCACCCCTCTCACTGCCTCTCTCCCCACCGGGAGAAGTGCCCAGTGAAAGGCTTTATCCCCAACCCCCAGGATGGGAATGGCTACATCAGCGCCGCAGAGCTGCGTCACGTAATGACGAACCTGGGGGAGAAGCTGACCGATGAGGAGGTGGATGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGGTCAATTATGAAAGTGAGTCAAGGCCAGGCTTGATCTCTGGAACAAGAAGAGAATCGCAGCTTCAGGAACAAGCCCCCAGATCCCTCTTGTTGGGGAGGGCCGCTCGCCACTTAGCCTGCCCGCCTGACCTCCTCTCTCTCTGCTTCACTCCACAGAGTTTGTACAGATGATGACTGCAAAGTGAAGGCCCCCCGGGCAGCTGGCGATGCCCGTTCTCTTGATCTCTCTCTTCTCGCGCGCGCACTCTCTCTTCAACACTCCCCTGCGTACCCCGGTTCTAGCAAACACCAATTGATTGACTGAGAATCTGATAAAGCAACAAAAGATTTGTCCCAAGCTGCATGATTGCTCTTTCTCCTTCTTCCCTGAGTCTCTCTCCATGCCCCTCATCTCTTCCTTTTGCCCTCGCCTCTTCCATCCATGTCTTCCAAGGCCTGATGCATTCATAAGTTGAAGCCCTCCCCAGATCCCCTTGGGGAGCCTCTGCCCTCCTCCAGCCCGGATGGCTCTCCTCCATTTTGGTTTGTTTCCTCTTGTTTGTCATCTTATTTTGGGTGCTGGGGTGGCTGCCAGCCCTGTCCCGGGACCTGCTGGGAGGGACAAGAGGCCCTCCCCCAGGCAGAAGAGCATGCCCTTTGCCGTTGCATGCAACCAGCCCTGTGATTCCACGTGCAGATCCCAGCAGCCTGTTGGGGCAGGGGTGCCAAGAGAGGCATTCCAGAAGGACTGAGGGGGCGTTGAGGAATTGTGGCGTTGACTGGATGTGGCCCAGGAGGGGGTCGAGGGGGCCAACTCACAGAAGGGGACTGACAGTGGGCAACACTCACATCCCACTGGCTGCTGTTCTGAAACCATCTGATTGGCTTTCTGAGGTTTGGCTGGGTGGGGACTGCTCATTTGGCCACTCTGCAAATTGGACTTGCCCGCGTTCCTGAAGCGCTCTCGAGCTGTTCTGTAAATACCTGGTGCTAACATCCCATGCCGCTCCCTCCTCACGATGCACCCACCGCCCTGAGGGCCCGTCCTAGGAATGGATGTGGGGATGGTCGCTTTGTAATGTGCTGGTTCTCTTTTTTTTTCTTTCCCCTCTATGGCCCTTAAGACTTTCATTTTGTTCAGAACCATGCTGGGCTAGCTAAAGGGTGGGGAGAGGGAAGATGGGCCCCACCACGCTCTCAAGAGAACGCACCTGCAATAAAACAGTCTTGTCGGCCAGCTGCCCAGGGGACGGCAGCTACAGCAGCCTCTGCGTCCTGGTCCGCCAGCACCTCCCGCTTCTCCGTGGTGACTTGGCGCCGCTTCCTCACATCTGTGCTCCGTGCCCTCTTCCCTGCCTCTTCCCTCGCCCACCTGCCTGCCCCCATACTCCCCCAGCGGAGAGCATGATCCGTGCCCTTGCTTCTGACTTTCGCCTCTGGGACAAGTAAGTCAATGTGGGCAGTTCAGTCGTCTGGGTTTTTTCCCCTTTTCTGTTCATTTCATCTGGCTCCCCCCACCACCTCCCCACCCCACCCCCCACCCCCTGCTTCCCCTCACTGCCCAGGTCGATCAAGTGGCTTTTCCTGGGACCTGCCCAGCTTTGAGAATCTCTTCTCATCCACCCTCTGGCACCCAGCCTCTGAGGGAAGGAGGGATGGGGCATAGTGGGAGACCCAGCCAAGAGCTGAGGGTAAGGGCAGGTAGGCGTGAGGCTGTGGACATTTTCGGAATGTTTTGGTTTTGTTTTTTTTAAACCGGGCAATATTGTGTTCAGTTCAAGCTGTGAAGAAAAATATATATCAATGTTTTCCAATAAAATACAGTGACTACCTGATTTGGCTCCTCTCCTCCTGTCTCAGTTTCTGGCCTGCCCCCCTCCAACACACATACACACCAACCCCAGCACTGACTCCTTTGGCCCAGAGGTGGAAGAGCCTCTCCTCAAAGCTGGCTCTGAAGCTGTGTCCAGTCAGTGCAGCCCAGTGGACGCCTCTGAACCACAGTTCTGATCCCAGCTAGATCGCAGGGTCATCAACGGCAGGGTCCTGTCCTAGAGATAGTCGCACAAATGGACTGAAAG
Task1_train_27391
A mutation in FKRP (fukutin related protein), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Walker-Warburg congenital muscular dystrophy
GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCG
GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCCTGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCG
Task1_train_27392
A mutation on Chromosome 19 affecting FKRP (fukutin related protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCG
GATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCGTGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCG
Task1_train_27393
This alteration in FKRP (fukutin related protein) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Walker-Warburg congenital muscular dystrophy
AGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGAC
AGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCTTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGAC
Task1_train_27394
This is a variant in FKRP (fukutin related protein), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27395
This variant impacts the gene FKRP (fukutin related protein) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27396
This mutation is located in gene FKRP (fukutin related protein) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Cardiovascular phenotype
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27397
Here is a variant affecting FKRP (fukutin related protein) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Walker-Warburg congenital muscular dystrophy
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27398
This alteration occurs within gene FKRP (fukutin related protein) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27399
Chromosome 19 houses a mutation in gene FKRP (fukutin related protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Muscular dystrophy-dystroglycanopathy type B5
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG