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_26700
A genetic alteration is present in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Developmental and epileptic encephalopathy, 42
CACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGA
CACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGAGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGA
Task1_train_26701
Mutation context: Chromosome 19, Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 42
GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGT
GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCAAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGT
Task1_train_26702
This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Episodic ataxia type 2
GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGT
GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCAAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGT
Task1_train_26703
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Episodic ataxia type 2
GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGG
GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTTGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGG
Task1_train_26704
This variant affects gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Developmental and epileptic encephalopathy, 42
GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGG
GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTTGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGG
Task1_train_26705
This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Inborn genetic diseases
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26706
Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Migraine, familial hemiplegic, 1
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26707
A variant was discovered in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Episodic ataxia type 2
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26708
The following genetic variant occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Episodic ataxia type 2
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26709
Mutation context: Chromosome 19, Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 42
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26710
A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Spinocerebellar ataxia type 6
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26711
Here’s a variant in CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Episodic ataxia type 2
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26712
A genomic change on Chromosome 19 affects CACNA1A (calcium voltage-gated channel subunit alpha1 A). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 42
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26713
This mutation is located in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Migraine, familial hemiplegic, 1
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26714
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 42
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCGTCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGCTGTGTGGCCTTGGGCAAGTCTCTCAACCTCTCTGTGCGACACACATCTCATCTAAAATTCCAACTCTCCCTGACTTTCCCTACTGAATTTTTCTCTGTTGTGTTTATCACCAACTGACAAGCTACGTATGTTTACAAATTTATCTTGTTTCTTGTCTGTCTCCCCTCTTGAATCCCTGCTCCACGGAGGCAGGGATTTTTGCCTTTTTTTGTTCACTGCTTAATCCCTAAGTCCTAGACCAGGGCCTTGGTCACACAGTAGGTGCTCATTAAGTGCTTACTGAATGATGAAATCTGTAAAATGGGGCTCAGAGAACTTGGCTCCTAAGGTTTCCATGAGGACTGAATAGGATTAAAAACACGTATTAAATGACCAAGAAATGCTTGTAGGATCAATGAAAGAAAGAATGTGGATCTGGAGAGGAATGTCCACACCTCCCAGGAGATAAACGAACTGGCCTTTCTCCCTCCCCTTCTGCTACCCTCCTGCACCAGCCCCTAAGGATGGACTCTTGGAACTTGGATGAGCTCATGGCTGGATCAGCCCTCGGCTCAGCCATGCCAGCCAGCTCCACAGTGGCCAGGCTTGTGGCCGTGTGCTTGGGATGGCAGAGACTTCCGCTTCCCTCCACTGGGAGCTGGGGCCGGGAAACTCTCTCTCCCTCCTGCCAGGGCCGGCAGATGGAGCGTTGGCAACGTCTGCTTGGTTTGGTTCAATTTCACAAACATGTCCTGAATACCTCGAGGCACTGGAGGTGGGGCTGCAATGCTGAGGGAGACCCCAGGGCTGAGAGGAAGACCCTGTACCTGTTACATGTAATCTTAACTTAATAGGGTCCTTGGGGAGAGGCTTAGGCTGGACGGAGGCTAGCTCTTAACATGCTGCGTTTGGCTAAGGGGAGGCTCCAGCGGGAAGCCAGAGGAAGAGAGAAGGTGGGGACATTTATTGGCCACTCCATCTGTGCCTTGCCATGGTTCTGGGTTCTCTAAGGTCCCAGGGCTGGTGGCAGCCCTTTTTCCTTGGCCCCAGCTCTGACTGGGTCCCCATAACAGCACTCCCTCTCCCATCCACTAGCCTGGGGGCTACACCATTCCTTGGAAACCCTGCTTACTCCCTGTAAACGGCCTTTTGGTTGAGTTTGCCATCCGTTTCCTGCAGCGACCTCACTGCCTTCCCCCTTCCCACCCTCTTGGCTGTAGAATTTGCTTGATGAGGGACAGTCTGTTTCTGGGAGTGGGGGGAGAGGCGCCTTCTCTTTGCATGGTGCATCCCCGGCAAAAGTTCTAACCCTGTTCCCATGCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCGTCCTGATCTGCCATGGGCAGGTGGTAACTTTGCCAGAGAAACATTCTCCCACCGCCTCCACCTTGGTGAGCTCCTGGGCGTTGGCCAGATTGTCCACAGCGATGGCCAAGAACACATTCAGGAGGGTGTCTGCAAATGTCTGAGTCAGGAAAAGCAACCACTGGTGGGACACCACTTGGGCCCTGGGTATCTGGGTCTCTCAGTACCCTCCCTTGAGCCCCTGCAACCTCTCCTCTGCCAGAGGTCCAGGCCTGTCCCCTTCTCTCTCTCCATGAAGGATACAGTTCCCAAAGAGCGTCAGTACAATGAAATAGATGGAGAACACCATGCCGCCCTGCACGCCCCCCTGAGACTTGATCCCGTCGTACATGACCTCGTTCCAGTCTTCGCCCATCAGGATCTGAAAGGGGAGGAAGAAACACACAGCCAACCCCCCTCTCAGCCACGGGCCCCTTGGAGATGCAGCTGTGGAGCCGGAATCCGCCCACCCCATCCCCGAGCCCAGGAGGTCTTTAACAATCCTGCCCGGTTTGCAGAGCCAGACTCCGTGTTGGCTTCTCCTTGGCTTTTCTCTTTGTTTGCGAGTAGAAAGGGCCGTTCCTGCGTCGTGGGGCTCTTAGCCTGGCTTCTAGGAAAATGGGACCCTGGAGGAGTCACAGACCCTCCTGTAACTCTGTCTTACTTGATGTGATTAAGGGGATTTGTTATGGACTAAATTGTGCCCGCCTCCAAATTCATGAGTTGAAGCCCTAACCTATGATGGGATGGTATTTGGAGATGGGGCCTTTAAGAGGTAACTAGGGTTAGATGAGGTCATGGGGGACTTCATGATGGTATTAGTGCCCTTATAAGAACAGGAAGAGACCGCATGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGATTAGCCTGGGCAATATAGCAAGACCCCATCTTTACAAAAAATTTAAAAAAATTAGCTGGTGCCCATCTGTAGTCCCAGCTACTCAAGGGGCTGAGGTGGGAGGATCGTTTGAACCTAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTCCAGGCTGGGTGACAAAAAAATGTGATTTGCCTAAAAAAAAAATAGATTTTTTTTTGAGATTTTTGTCTCAAAAAAAAAAAAAAAAAAAGAACAGGAAGAAACATCACAACTCTCTCTCTCTCTCTTTGACATATGAGGACACAGCAAGAAGGTGGCTATCTGCAAGCTAGGAAGAGGGCCCTCACCAGGAACTAACTAACCCTGCTAACACTTTGATCTTGGACTTCCCGGCCTCCAGAACTATGAGAGAATAAATGTTTCCTGTATAAGCCACCCAGTGTGTGGTATTTTGTTATGGCTGCCTGAGCAGACTAAGACAGGATTTTAATATTTACCTGTGTTCCTCATGTGGTCATGGTGATGATTAAACAAGCTACTACGTGGATAGCACAAATGTAGCACAAGGACACGTTTGGGGTCCCCCTGCCTGAGGCAGACCCTGGAACAAGGGTTCGGGTGCAAGTGGTTTGTCTGGGAGGTGATCTCAGGAAGCACCAGTAGGGGAGAGGAGAAGTGAGAAAAGGGAAAAGAGGGTGGAACGTAAACAGTATGTGATCAAGCGAGTTTCCACTGTAGGTAACCGGGGCTTGGTCTTGCTGGGGAGCTCTAGGGGTCATCCCACCTGAGGGTGAGGGAGCTGGGGTATTTATCCACCAACGGCTGCTCCTTTTAAGGTGTGGCACAAAAAATTCACAGTACTGCTGGACTGCAGTTCCTTGGGGGCAGAGCAGGGGACCAGAGAAAGACCAAGGCAAAGGATTAGGTGTTGACAGACGCAAGTTGTGCTGATGCATACTGAAAGAACCAAGGGGATATTCAAACAGCACCTACATGCTCCTTTAAAAAAGATCCAACTTCCTTCCTTCTATCCATATCCCCATGAGGATAAAGTAAATGTTAAAGAACTCCAAAAACATGAATCTGCTAAAACAGGGTTTCTAAGCCTCAGCACTGCTGATATTTGGGGCCAGATTATTCTATTTGGGGCTGTCCTGTGCATTGTAGGATATTGAGCAGCATTCCTAGTCTCCACCCACCAGATGCCAGTAGCACCCTCTCCCTAGCTGTGACAACCAACAATGCTTGCAGACATTGCTACATGTCCTTGGAGGACAGACTTGTCCTTGGGTGAGAACCTCTGAGCTAAAGATACATGACTAGCGATCAGTGCTATTAATAATCGCTTATGGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGG
Task1_train_26715
The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Spinocerebellar ataxia type 6
TGAAGTCACATTTTCTATACACTCTCAGTCCCTCAAAGAGAAAGAATCCACCAAAGATGCTCTGAAGGTCCCGGCTGGGCCAGTCCCAAGCCTCAGGGAATGCGCCCACATGGGTGCAGAAGTTGCTTTGGGTTGATCACCCTGGAATATGAGACCAAGGTATCTTCAGATTTGATGGGTGTATTAGCCATTTTTTTTCTCTGCCTTTTTTTTAAGAGACAGGGCCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGC
TGAAGTCACATTTTCTATACACTCTCAGTCCCTCAAAGAGAAAGAATCCACCAAAGATGCTCTGAAGGTCCCGGCTGGGCCAGTCCCAAGCCTCAGGGAATGCGCCCACATGGGTGCAGAAGTTGCTTTGGGTTGATCACCCTGGAATATGAGACCAAGGTATCTTCAGATTTGATGGGTGTATTAGCCATTTTTTTTCTCTGCCTTTTTTTTAAGAGACAGGGCCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCCGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGC
Task1_train_26716
This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Spinocerebellar ataxia type 6
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26717
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Episodic ataxia type 2
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26718
With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Developmental and epileptic encephalopathy, 52
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26719
Consider this mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Migraine, familial hemiplegic, 1
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26720
The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Spinocerebellar ataxia type 6
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26721
A variant found in Chromosome 19 affects CACNA1A (calcium voltage-gated channel subunit alpha1 A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Episodic ataxia type 2
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26722
The following genetic variant occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Developmental and epileptic encephalopathy, 42
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTCGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGCCCTAATCACCCCAAGGCCAGGTCCTAGACAAGTAGGAACAGCTCCTCTGCCCCAGAGCCCACTGAAATGATCCAAACTAGCCAGTCTCGAGCTGTTTACTCTGCCTCACCCATTCCGTCCCATGGAAACCACAATCAAGCCTCTTGCCCACATTTTCCTTCTCTTCCTGCTTGACCCTGTTGCTTCTCTGCTTGGTCCTGCATGGTGTGCTCCTTCTCTGAGGATCTGTGAGTATAACAAACTTTCTTTTCGTTTTTGAGACAGGGCTTTGCTCTCTCGCCCAGGCTGGAGTATAGTGGTGTGATTGTAGCTTACTGCAGCCTCAACCTCCTGGGCTCAAGCAATCCTTCCACTTCAGCTGCCCTAGTAGCTAGGAGGTATGTATCACCATGCCCAGCTAATTATTATTATTATTTTTTTGCAGAGACGGAGTCTCACTATGTTGCCCAGACTTGTCTCAAACTCCTGGCCTCAAGTAGTCCTCCCATCTTGACCTCCCAAAGTGGTTTTTTTTTTCTTTTTCTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTGTGCCTCATCTCCCGAGTAGCTGGGATTACAGGCATGTGCTACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGATCTCAAGTGATCCGCCCACCTGGGCTTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGTACCTGGCCAAAGTGCTGGGATTATGGGTGTGAGCCACCGTGCCCAGCCACAAACTATCTTTCCAATGACATTCATCTCCTGATCTGTTGGCCTCACCATAATTGAATAATGATAACCATAAAATCTGTGTTTCAAAGTGGTGTGAAAAGGCCAGGTAGAGAAGGAGGAGTTCAGGGAAGCCCCTTGGATGTGGAGCAGGCACTTTCATCTGTGACACTGAGAGGTGTTGGCCCGTGGGGCCAGGTGGAGGCTGTACCTGAAACACCGTCATTATTGCTGCTGGAAAAGTATCGAAGTTGGTGGGAGGAGTCCCTTCATCGAAATTAAACCTGCAGGGAGGACACAGACATTTCACGTTGGCCCCACCCGGGGTGCTCTGAGGGTGTGGCTCAGTATCTCATCTCCAAGGAAACGAACGTCTCCATCATCTCTGTCCCCAGGAAACCCTGAGTGGTACCCAGGGCCCTGCCCATTTGGGTGACCGCAATGGGTGTCTGGGCTACGAGGAAGGCAGCCTGCACGGTGGAGGGGACTGTGTGTTCCCTGAGCCTGACCCCAGGGAACCAGGAGTTGGAATTCCTGTGAAGGACTTACTGGCCGCCGAAGAGTTGCATTCCCAAAAGGGCGAAGACGACAATGAACAGGAAAAGGAGAAACAACAGGCTGATGATGGACTTCATGGAGTTGAGGAGAGAGACGACCAGGTTTCTGAGAGATGCCCAGTACCTGCCGACAGAGGCCAGGCGAGGACTCAGGCCAGGCGGGGGAGGCAGGGCCCCGGAGTCAGCCCTCGAAACACGAGGCTCACTTTCCCAACTTTCTGGAGGCGGCCCCACCATGTCCCCCATCCCCACCCCCTGTACAAATGTCCAGGAACCCCAAAGACTTACTTTGTGACTTTGAAAATACGCAATAACCTGAGGGCTTGTAACACGCTGATTCCAAAGGATGTGCCAGGTTTTATGACAGCCCAGATGACCTCGAAGATGCTCCCAATGATAACCTAGGGCAGAGAACCTGGTCTCATGTCCAGGGACAGTGTCTGGGCTCCAGAACTGGCAAGCATTTCCTAGGTACCAACCTTGCAAGAACTCAACCAAACTCCTCCCTCCAAATGGAAGCCGGGTGAGGATCCTTGACCCCCTCATTCATCCATTCATTTATCTATAGAGACCGGGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGCTCACTGCAGCACTGTCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCCCCACCACATCTGGCTAATTTTAAAACATTTTTATAGAGATAGTGTCTCGCTAGTATTGCCCAGGCTGGCCTCAAACTTCTGGGCTGAAGCCATCCTCCTGCTTTGGTCTCTCCAACTGTTGGCCTCCACTTTCCAAAGCATTGAGCCACTGCACCCGGCCTCTTATTTATTTATTTATTTTTATTTATTCATTTATTTTGAGATGGAGTCTTGCTCTTATCACCCAGGCTGGTGTGCAGTGGCGCGATCTCAGCTTACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTCTTTTTTATTTATTAAGAGCTCCCACAGGCCTGAGAATTCCTGAAACACATAATTACAAAGTGAATGTCATGCAACTACTACCTATGTCAACAATTAGGAGAAGGCTAGGGCAGTGGCTCATGCCTGTAATTCTGGAACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACACAGGGAAACCCTGACTTTACAAAAAAAAAAAAAATTAGTCAAGCATGGTGGCATGTGCCTATAGTCCCAGCTACTTAGGAGGCTGAGGAGGGAGGATAGCTTGAGCCTAGGAATTTGAGACAGGAGAGGGTCATGATCCTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTATCTCAAATAAAATAAAAAATAAAATAAAATAAAAAGGGACATGTGGATACCCTGGAAGTTTCCAGAGACACTGTGATATAACTACCATCCTGAATTTTGTAATAACCATTTTCTTACCTTAAAAAAAACTGAGGTGAAATTCACATAACATAAAATTCACACTTTGAATTACACAATTCAGTGCCTTTAGGTACATGCACAATATTCTGCAACTATCACCTCTATCAAGTTCCAAAACATTTTCATCACCCCCAAAGGAGGCCCTGTCCCCATGAGCAGTTACTCCCCACTCTCCCTCACCCAGACCCTAGCAACCACTAATCTACTTTCTGTCTCTATGGATTTGCCTGCTCTGGACATTTCATACAAATGGAATTATGCAATACTTGACCTTTTGTGTTTGGTTTCTTTTACCGAGCGTTGTGTTTTCAAGGTCCTCGCCTTTTTAACGTATTCAAGTATCATCCTTAAAAAATACAGTTTAAGGCGGGGCGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGATCAGGATTTCGAGACCAGCCTGGGCAAATTGCTGAATCCCGGTCTCTACAAAAAATACAAAATTAGCCGGGGGTGGTGGTGCATGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT
Task1_train_26723
This gene mutation involves CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Inborn genetic diseases
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAAACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAGACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
Task1_train_26724
This gene mutation involves CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 42
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAAACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAGACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
Task1_train_26725
Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Episodic ataxia type 2
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAAACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCTACCCTCTGCAAGATCCTTAGAACCAGTCACCTGCTCTCCCCCGACTCCCCACCACAGCTTCTCCCTTCTCCCCTGGGACCCACCCCTGAGGTGGGTTTAGAGCAGTTACCATCAAAGGGATGCCTCTGCTCCCCGTCAGTTTCATCCTCGGCGAGGATCACCTCTTCTGAAGAGGAAGAGCACAGAGTTAAGCTCCTGCATTTGGAGGATGAGTTCTCCCTTGGACCAGGAAGAAGGGTCTGCCCGGCCACCCCCATTCTCTGCTGACTGATGGTGACAGCTCAACCGACCAAAAAACATGCTGCTGGGTGGTTTGTGACTTCAAGCCCCACCTCCGCAACAGTAGCAATAGCCAACATTCTCCCCACCTCGCGCAAAATAAAAACCAATGTCCACACCACAGCCTATAAGCCCCTGCTTGATCTGATCTCCATCACCTTCCTGTCTTCCTCTCCTCCAGCTGTCCCCACCTCTCACTCTGTTTCAGCTGCACTGGCTTCCTTGCTGTGTCTCAAATACGTTCCTAGCTCAGGGCCTTTGCACTTGCTGTCTCTGCCTGGAATGCCCCTTCCCTTGACATCCCCACAGCTTCCTTCTTCACGTCCTTCAGGTCTCTCTGCTCAGAGGGTACTTCCTTAGAGAAGCCTTCCCTGACCACCCTGCCTCTAACTTCCTACTCTTTTTTTTTTCTCTGACACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATGCCTGACCTCAGGAAATCTGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTCCTACTCTGTTTTATCTTCCTAGTCTGTTTTATCTTCCTTCTCTGAATTTGGGAGTTCCCAACATGACATGTATTTGTTTGCTTTATCTCTCTCATTAGAATATCAGAGCTCTGAGGGCAGGGATTTGGTGTGTATTGTTTACTCCCATATCCTCAGTGCTTAGATCAGTGCCTGGCACACAGCAGGTGCTCCCTAAATGTTTGTTAAATGGCTGAACAAATAAATATGTGCCTACCGTGTATCAGGCACTTCTCTCCCCAAGTGACTCAGCTGAGATTATTTTACTAAATACTCCAATAGTACTATGACTTAGGCACTACCATCGCCTCCATGTAACAGCTGAGGAAACGGAGGTACAGGGATGTGTGGTGCATGGGTAAAAAGTGGCAGGGCCGGGATGTAAACCAGCGTCTGATTTCAGAATTCAAGTTACGTGATGTCAGATCCTGGCTTCATCTTAGACTTCTTCATATCAGACTCTGGATTCTTGTTGATAAAATTTGGGACTACCAATTCAGGTTCTCTTTCTCCTCCCATCATAACCCTCCCAGCTTAGCCTTCTCCAAACTGCATGACTCTCTTTGTACTCCGTGGCCTGGGATCTCCATCCCTGGGCCCCAGGATGAAAGGGCCTCACCTGCTTTTGAGATCCACTCCATGTACCCATTGAGCTCACGTTCAATCTGTTGTTGCCGCCTCAGCTTCAGAAAAGCCCGCCGGTTCTCCACCCGTTCCCTTTCTTTGGCAGACTCCCTGGAGAAGCATAGAAAAGCCAGAGTATGGCTGTTTTGAAAATGTTAGGAAACGTTTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTTTGGGGATTCAGAAGTCCCTGGAGGTCAGGAGTTTTCAACAGGAGGAGTCAGGACTTCTGGGAAAAGACTGGGATATTATAGTGATGGGTGCTTCTGCCAGCTTCACACATTTCCCGACAACTGTGCCTAGGTAAAGAAAAAGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGTGAGGCTGAGATGGGAGTATCATTTAAGGCCAGGAATTTGAGACCAGCCTGGACAACACAGTGGGCCCCATCTCTATGAAAAATAAAAAATGTAGCTGGGCATGGTGGCATACACTTGTTGCCTTAGCTACTCAGGAGGCTGAGGCAGGAGGATCGCTTGTGCCTAGGAGTTCTAGGTTACAGTGAGCTATGATCGCCCCCTACACTCCAGTCTGGGTAATAAAGCTAGACACCGTCTCAAAAAAAAACAATAAAAAAGAAAAAAACCGAAAGGATAAAACCATGCCATGCCAACCACCACTGGCTGCATACCTCATTCTCATTCTCTTCATACTTTTGGCTAATAATTATTTCAGCCCTCTTTTAAGTTAGACCAATAAGCCATGAATGAAAGATTTCTGCAGCAGGTTGGCTTCTCTGCCATAGGTCCCACCTCTTCCTGTTTCCCTTCTTCCTTTTCCTGTTTGGAACATGAAGTGGCCATCCGGAGGGCGTGAGGCAGCCATCTTAAGACCATGAGGTATCCACGAGATTGGAAGCCTCTGGTAAAGATGTCAGAATGGAAAGCTGGAAGAATCTGGGGTTGCTGATGGTGCCATAGAGCCACCATACAAGTGCCCAGACTTCTTATGGTAAGAAAAATGAAGCCCATTTATGATTAAGCCAAAAAAATCTTGGGGATAGAGGACAATATGGGTCAGGAAAATACACCGTTAGAGCATATGCTATGATTTTATATTTGGAAAATGGGGGAGAAGTAAACCCAAACTATTGGTTTTTAAAAAAAATGTAAAGAAAGTAAAGCCCATATGAACCCTCTCACTGGGTACCCCTAGCAGTACACAACCTCTGCACCTGTGCATGGCTTGCTAATAACAGTCTGGTAACCCAAACAAGGGAAGAAGCCTTTTCTCTGTCTAGTGAATGAAAACAAAGCTTCAATGGCCTCTACTTGGAAAGAAGTTAGCAAAGAGGAGTGAGTGGGATGGGGTGGGGAGTAGCAGAAACTTACCCTGACAGCACACCCAGCACAAGGTTCAGCATAAAAAAGGAGCCGATGATGATGAGGGGGATGAAGTACAACCAGTTCCAAGTGTTCCCTGAGGCATCGTTGCTCTGTAGGGTGTGAGGAGGGAAAGCAGGTGAGAGTTGACTGGGACTCAGATAGAACCTGACAGGTGAGGGAAGGGGAAGCTCGGTTCTCTTGTGGCTCTGTCTTAAATGTTCTTGGCTTGTGGAGTTCTGGGGCTCTGGCATCCCAGAGGGGGAAATGGAGGAACGTTTTCTGAAGAAAACATCCAAAGGGTAAAGCTCTCTCTTAATTATGTTCTCCTCACATAACATAATTGACCTGGGAATGGAGTAAGAAACACAAGAGGACTTCCCAGACCACAGTCCAGAAGGAGAAGGAAAAAGTAAACCAAACAAAACACAAAACCTATTGAAATGGATTAATTAATCCCTGGTTCCTTCTCTTCTCCCAACACAGTCATAGACTCCCCTTAGAGGAGATGCATGACCACAGAGTCTGATGGCCTGGTGAAATCACCAAGCCAGACAGATGGTCCATGAGCCCTTTCCTCAAGTGTCTCCCTGCTCCATTCCCTGCAGCCTTAATGCCAATCACAAAAAATTCTCAGAAGTTTCAGCTCAATTTTCAAGAGGAAAAAAGTCCACAAATAGAATACTCTCTGAAACAGAAAATAGAACACTATAGCAAGAAGGAAGTAAGATGAGGGGAA
Task1_train_26726
Here is a variant affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Developmental and epileptic encephalopathy, 42
GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACA
GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCTTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACA
Task1_train_26727
A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Episodic ataxia type 2
GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACA
GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCTTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACA
Task1_train_26728
Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Episodic ataxia type 2
TAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGACATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACATGAACTATTATTTGATA
TAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGAGACCTTGTCTCCAAAAAAACAAAACAAAAATCTTCCCCAAAAATAAAATTATAAATGCATTTAGTCTTTGATCCTGCAATCCCACTTCTGGGAATGGAGACCCTCCAACCCCCTAGCTATATCTGCAAAAGTATGAAGAGGTACGTGCAACATGCTCCTGGCAGAGCAGCATCATGTTCCATGTCAGTGGACAGGAAGCCAGTCAAGCATTTCTCTTAATGGCAAACAAATAAAACTATGGGCAGCCACACAATAGAATGCTATGCAGCTGTGCAAAAGAATAAAGAAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGAGGATTGCTTGAGCCCAGGAGTTCCAGACCTGCCTGGGCAACACGGAAGAACCCTGTCTCTACAAAAATTAGCTGGGCATACTAGTGTGCACCCGTGAAGAGACTGTCCATGTCCTGCAGTGGAAAGATCTCTAGAACGTGTGGTTATGAGAAAACAAAAATCACAGAATTGAACAGCATGTATAGAATGCTACTCCTTGGGATAAGAAAGAGGGGGGAGGACATAGATTCGATTATGCTTATAATTATAATTGCATAAATAAACATTGGAAGGATATTCTGAGGAACTAAAGGGGTTGCATATTGTGGGAAGAGGAAGTAGCATGCAAGTGGGGGCAGGGATACATCTTTCCAGAAACATCCCTAACATTTTTAAGATCTAGGGCAAGAGTACAAAAGCAGACCACATACTACGGGGAAATATTGAAAAGGTAACTAAATAAAACATGCTGTGTGCTTCTACTTTGCAAATATACCTTCCTTTACACTTTGGAAGGTCAGGGTGGAATTTAGAATCCGGATATCTGCACTGGGTCAAGGTGTGGGGAGAGCCAGCCCTGTCCTGTCCCTTTCTCTTCTTAGTCATGGCTCTGTCCTGCCAGAGGGGCTCCACACATATGTGTGGGCATTCCAGCTTGTACATCCAAGCTCTGGCCACATTTGTGTTAACAGCCACCCCTCGGATGTCCTTGGCCCTCAGTTGGGTTACGAACAGATCCATATGAGAATTGCACGCAAGTTCATGGAATCTGGCCATGGGCAGGGAATTCCAGGATCCTGGTAACTTAAAACATGGCCTACAAAGTGGGGCACAAGCTCTTGGTAGACACATCCCCTTGGCTCCAGGAACTTCTCATCCCACGGGGAGTGGTATGGCTGGAGAAGGACTGGGTGAGCCTCAGGGCAGGGACCCCTCGCCTACGTCCAAAGATATTACTCTATCTTTTATCTGTGTTGGTTTTTGGATCACATAACCTTTCCGTATTCAAAAATCTAAAATTATATCTAAACACTTGCACAATGAAAAATGATGTTGCATCTGGGGGCCCTCCAGACTTCTATGCCCTATAGTTAGAGTTCTGCTCATGAGCCCCTGTAATCTTCAAAAGCCTGAGCCTCAGGCCAGCTTCAGTGGGGCTGTGTTGTCCTTGGGCTGCCTTTCCCAGCTCAGGGTCCCTCCATTGCAGCCTTGGAGTCTCACTGGTCCCAGGAGGCCACCTCCCTGAGACTCTGATTGTCCACACACACTGTCCCAGCATCACTTACATTGTAGAGGAGATCAGTCCACCCTTCCATGGTTATGCACTGGAAAACAGTCAGCACTGCAAACAGGATGTTGTCGAACTGAGTGATCCCGTTGTTGGGCCCTTCCCAGTAGGGCTGATATTTGGTCCCATTGGGGCAGGTGCGGGCGGGCTCTTCTGTCCCACATGGAGCCGGAGACTCACCCTGAATGTCATCTACAAAAGGGAAGGGGAGAAAAGTCAGGGGAAGGAGCAGGGAAAACCAGCTCTGAGAAATAGGGACCAGTGACTCTATAATGCTGTTGGAACGAATAACTTTTGGGACAAACGTGATCAGTCTTCAAAGAGATCAATGTTTGGCTTTGGGGGTCTATTATTGGTTTTCTATTGATTAATTTCTTCTCTGAGCTTTACTACTTTTCTCTTTATGTTTTCCATGAGTTTTTTTTTTTTTTCTATTCTTTTCCTAAACTTTTGAGATGGATGGATTAACTGCCTTTAAGGCTATAAATTGCCTTTAAGTGTGGCTTTACCTGCATCTCAACATTTTGTCATGCATTATCATTATTGTTCAAGTAAAATATTTTCTAATTTCCATTATTATTTCTTCTTTGACCTATGGGTAATTTAGATGTATTTGTTTTTTAAAAAAACTTATTAGGTGTCTGTGTGTGTGTGTGTGTATATATATATATATATATATGAAGACAGAGGGGAGAGGAAGACAGGGAGAGAACGGGGGGAGAGAGAGAGCGAGAGAGAAGTATAAAACAATATAATGATTCACCATGTACCTATCACCAATTTAGACACTTACCTATTTACTTCTGGCAAATTTTGTTTCATCTATTCCTCTGTATCCCCTCCAAACACTTTGCCTTGCCACTAGAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCATTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCACCTCACTACAATCTCCGACTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCCCAAGTAGCTGGGATTATAGGTGGCCACCACCACACCTGGATAATCTTTGTATTTTTAGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAGAATATTTTTAAAGCAAAGCTCAGACATCATATCATTTCATCCATAAATGAGAGGCATGTCTGTTAATCTGCAAACACTTTTAGAGTTCTCTTTTTGTTACTGATTTCCAGCTTAATTGCATTACGGTCAGAAAATATGTTTTGTATTTGTATTTTTTTCAGCTTTTTGACCTCTGTTGAGACAAACTTTATGGTCCATAATATAGTCAGTTTTAGTAAATGTGCCGTGTGCATGGTGTAGCTGGTAAGTGCAGCCTTCTTCCGACATCCATTAGGACAAATTTGTCAAGCGCATTGTGTTATTCTCCTATAAGCCTTGCTGATTTTTTTCTTCTTGGGATGTACTGGGCTCAGGGAGCTGTTCTGGGGGTGAGGGACACCAGTACACACAGTTCCTACCCTTGCCTAAGGGTAAGGAACAGGAGCTGAGCTTTCTCCCCAAATAGCAGGAGGCAGGCTGTGAAAATGCCACAAGGAGAGAGAAACGTGCCAACAGACACCCCTTTTGCTGGAAACCAAAGACAGCTTCCTGGGGAGGTGGCAGTCAGGCTGAACGCTAAAGGTCAGTCCAAATCTTAAGGTATTGATGGGGTAGGGAGGCAGGAAAGCTCACATCTGGGAGTGTCCTCATTTTACCAGCACAGCGGGTCTGAGAGGACCTTATTCTGTGAGCGATGCTTTTGAAGGTTTTCAAAGACGACCGTGGCATTGTCGGACAAGAAAACAAACAGCTGAGTGTGTGTAAACTCAAGCTTCCTACTCAACAAAAATATCTCTCAATGTATGTGCTACAGACTTCGCAGCACCAATTCTCTGCTCCCTTGACTGAGCACACAGCAGAGGGAAATAAACCAATGCTGAATGAATGAATCTTGTTGGCCTTTCAAGCTCTGGCTGAATAGAAACTCCAAGTCTAGCCTCGCCATGAACTTAAGTTGTTGGAAACGCCTTCCTCACTTATGCTGGACTTGGTACATGAACTATTATTTGATA
Task1_train_26729
A variant affecting Chromosome 19, within the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Disorder of sexual differentiation
TCTTCATCGGGGAAAGAAATAATTAGGACATTCCATATTGAGCAAACTTCACAAGCCCAGGAGAGAAAGAGACAGGAGGAGCAAGAGAAAAAGAGGAAAAAAAAAACCAACAAACCAAAACCCACAAAAAAACCCAAACCTCCAACCATTGCAAATAAACCTTCCCCAGTGGGTTTTCCCTCCCCGTGGGGAGGAGTGGGGAGGGAGGGCTCAGGGGCTGCCTCTGCGGATCCACTTGGGGGTCACTGGGTGGAGAGGGTGGGTGGAAATCCACTCCCAGACAGAATCTTCTTCTGTGGCTGCCTTTCCCAAATAAGGGGCCTGAAACCTCTTTCTCTGCCCACCTGGGTTCCCCTTTGGGCTTCTTGATTCCTTCTATCCACTCCTTCAATTCACAGCTCCCTTGACCCAAATCATCAGAACCAGAACTGCTATTCAGTCTGTCTGCACCCAGATGGCCAGTGGTCCAAATACTGAAATACTGAAGGCATCCCTTCCTACTTGATTCCATTTCATTCTGGAGCTTTAGAGAGCAAGCAGCTAGAGTTTGGATGGCAAAGATTTAACTGAAAACGTATCCAAGGGCTATTTGGTTCCTGAGTGTGGATCGTGGTGGACACACTGCTTCCACACTGCTGGTTCAGAGCTGAGCCCTGGGAGAGTGTCTCTGCGCTGCCTGGCTTTTCCGGGGCTCACCCTACCCCCAGACCCAGCCACTGAAGGGTTAATGTGGGCATAGTCAGGGAGGGGCAGAATGCTGCTGAGTGCTAGGTTCTGATTGGTTGGTGCCAGGACTCCCAATTGGGGTATCTCTGGTACATCCTGGGGGTTGGGGGAGACCAGGAGGACTCATCCAGTACTCTCACCCAGCACTCAGGGCAGAGAACAAAATAAATCCATGGGTTCCTATAATAAATGAGAACTATCGTTTAGCATGGCACCTGTGCCTGGAATCTTCTCTGTCTCTCACCTTCCACAAGGTACCACTCACAATGCATTGAGGCAATAACCCTTTTCTGGCCCAACTCTCCCCACTTCTTGCTTGCTTTAGAAGTCAGGACTGGTCGAGGTCTGAAAGCACCCAGAATACCTGTTCCACTCAGCCAGATGTGCCAGGCATTAATTCCCACTCTAGGAGCAGTCCTCACCAATGTCAAAAAGAAGCCAGTGTATAAATACCCCAGCTCCCTTGCCCCTTGGCTGGGACGGCTCTGAGGTGTGTGTTCTTTTTTTATTTATATTTTTATTTATTTATTTATTTGAGATGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAATTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCTGACTCCTGATCTCAGGTGATCCACCCGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGACCAGCTGAGTTGTGTGTTCTTTGCTGTCTCCCAGAGGTGCCCAGGGGGATCCAGTCCCAGTTTTAAGTGGTAACCCGCTTGATAGCACACTCTTTAAAAGATCCCTTCTTTCTCTGCTCACTTCCTCATTCCCCCGATGGTGCTTCCTGGGATCATTCCCAAATAAACTCTTTCTCTGCTGGGTCACCTTCTGTGGAACCCCACCCCTTTCAACAGCTAAGATCTCAGAGGCTATTTCACTCACTGCCTCTCCTGTAGTGCTCTCTGAAGGAGACGGTCCTCCCAGCTGCCAGGAGAAAGAAGCACACCCCTGCCTAATCCTCCCAAGAGCTTGTCCCTGAAGGAGAAAACTGGAAAGATGCATCATGCTCCGTGGACCTACCTGTCCCCTCTTCAAAGCAGGTGGTATGAAATTTTCCCATATAAAATTCTAACCCTATGATTGCAAAAATAAGGATTGCAAAAAATAGGAGGAGGCCGATCTGCAGCAAAGGGATCATCGCCTTCATGATCGACTTCAGGACGACTTGTAAACCTGGGGGGACACAGAGAGAGGCCCCATAAGCCCATGAGCAAGTACCCCCAAACCCCGCCACCAAGACGCCCAGGTCTCTCCCAGACAAAGCAGGTGTGTTCCTGAGGGAACATTAAGCACCCAGGAGCCTGGGGATTGGGCAATGGTGAAGGAAGCACCACACGGAGGCTGATCCTTATCATGGGAACAACACTTCCTAGGTTTTTTTTTTCCTTTGAGACAGGGTTTTGCACTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCTGCCTCAGTCCCTGCAATAGCTAGGACTACAGGCATGCACCACCATGCCTGGCTAAGTTTTAAAACTTGTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGCCTGAAACCCCTGGTCTCCAAGGACTCAAACTCCTCAGCCTCCTAAAGTGCTAGGATTATAGGTGTGAGCCACCATACCTGGCCCCTATTATTATTATTATTTATTTTATTTATTTTTTTTGAGACAGAGTCTTGTTATATCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGGCCCAGCTAATTTTTCATATTTTTAGTGGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGTCTTCCAAAGTTCTGGGATTACAGACGTGAGTCTCCACGCCTGGCCTTATTATTTTTTAAAAAGCACTTTTAACTTTAAAGTATTTATTTATTTATTTATTTTAATTAGCCAGGCATGATGGTGCATGCCTGTAGTCCTAGCTACTCTAGGGACTGAGGCAGGAGGATCGTTAAGGCTGCAGTGAGCTATGATTGTGCCACTGCGCCCCAGCCTGAGTGGCAGAGCAAGACGCTGTCTCAAATAAATCTATATATATATTTTATAGAGACAGGGTCTCACTATGTTATCCAGGCTGGTCTCGAACTCCTGACCTCAAGCGATCTTCCAGCCTCTGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACAGAGCCCAGCCAACTTTAAAGTACTTAATAAAGGTATTTGACATGCTGTTCCATTTGATGATCTTTTGGGCAAGAAAGGGGTGGGAGTCCATTGCTTTTGGAGCCATATTCCTGGGTGTTGGGCAACTTGCACCCAGAAGAGGGAGCCATTTTCTTAATTTTTTTTTTCTGCCAAGAGGCGGTGTCTTTTCCTCATTCATAAAAGGCCGCCATATAGGCTAGTTGCTGCTCTGGGTAGGAAAGCGGTTGGCGGTCCCAATTTCAACCCCAAGGAACCAGACTCAACATTATTTCACTGGCTTCTAGTGACAAGCCCCTGAGGTGGCCATACATGTAAAGTCACTCTCATTTTACAGAAGTGGGAAGCAAGGCTAACAGAGATGCTGTGATTCACCCAGAGAATGCATGAGAAATGGCAGAACTAGGCAGGGCGCGGCGGCGGTTCACGCCTCTAATCCCAGCACTTTGGGAAGCCGAGGCCAGCGGATTAACGAGGTCAGGAGTTCAAGACAAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGCCAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGACGCCACTGTACTCCAGTCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGCAGAACTAGGATTTGAACCCAGGTCCATCTGAAATGAAGCCCCATGTTTGCCCATGTGCTGATGTTGCTTTCTCTGTTCTGAGCAACCCAATTCAGAAAGATGGTGGTGAATAAGAAGGCAGGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC
TCTTCATCGGGGAAAGAAATAATTAGGACATTCCATATTGAGCAAACTTCACAAGCCCAGGAGAGAAAGAGACAGGAGGAGCAAGAGAAAAAGAGGAAAAAAAAAACCAACAAACCAAAACCCACAAAAAAACCCAAACCTCCAACCATTGCAAATAAACCTTCCCCAGTGGGTTTTCCCTCCCCGTGGGGAGGAGTGGGGAGGGAGGGCTCAGGGGCTGCCTCTGCGGATCCACTTGGGGGTCACTGGGTGGAGAGGGTGGGTGGAAATCCACTCCCAGACAGAATCTTCTTCTGTGGCTGCCTTTCCCAAATAAGGGGCCTGAAACCTCTTTCTCTGCCCACCTGGGTTCCCCTTTGGGCTTCTTGATTCCTTCTATCCACTCCTTCAATTCACAGCTCCCTTGACCCAAATCATCAGAACCAGAACTGCTATTCAGTCTGTCTGCACCCAGATGGCCAGTGGTCCAAATACTGAAATACTGAAGGCATCCCTTCCTACTTGATTCCATTTCATTCTGGAGCTTTAGAGAGCAAGCAGCTAGAGTTTGGATGGCAAAGATTTAACTGAAAACGTATCCAAGGGCTATTTGGTTCCTGAGTGTGGATCGTGGTGGACACACTGCTTCCACACTGCTGGTTCAGAGCTGAGCCCTGGGAGAGTGTCTCTGCGCTGCCTGGCTTTTCCGGGGCTCACCCTACCCCCAGACCCAGCCACTGAAGGGTTAATGTGGGCATAGTCAGGGAGGGGCAGAATGCTGCTGAGTGCTAGGTTCTGATTGGTTGGTGCCAGGACTCCCAATTGGGGTATCTCTGGTACATCCTGGGGGTTGGGGGAGACCAGGAGGACTCATCCAGTACTCTCACCCAGCACTCAGGGCAGAGAACAAAATAAATCCATGGGTTCCTATAATAAATGAGAACTATCGTTTAGCATGGCACCTGTGCCTGGAATCTTCTCTGTCTCTCACCTTCCACAAGGTACCACTCACAATGCATTGAGGCAATAACCCTTTTCTGGCCCAACTCTCCCCACTTCTTGCTTGCTTTAGAAGTCAGGACTGGTCGAGGTCTGAAAGCACCCAGAATACCTGTTCCACTCAGCCAGATGTGCCAGGCATTAATTCCCACTCTAGGAGCAGTCCTCACCAATGTCAAAAAGAAGCCAGTGTATAAATACCCCAGCTCCCTTGCCCCTTGGCTGGGACGGCTCTGAGGTGTGTGTTCTTTTTTTATTTATATTTTTATTTATTTATTTATTTGAGATGGAGTCTCACTCTTTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAATTGGGACTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCTGACTCCTGATCTCAGGTGATCCACCCGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGACCAGCTGAGTTGTGTGTTCTTTGCTGTCTCCCAGAGGTGCCCAGGGGGATCCAGTCCCAGTTTTAAGTGGTAACCCGCTTGATAGCACACTCTTTAAAAGATCCCTTCTTTCTCTGCTCACTTCCTCATTCCCCCGATGGTGCTTCCTGGGATCATTCCCAAATAAACTCTTTCTCTGCTGGGTCACCTTCTGTGGAACCCCACCCCTTTCAACAGCTAAGATCTCAGAGGCTATTTCACTCACTGCCTCTCCTGTAGTGCTCTCTGAAGGAGACGGTCCTCCCAGCTGCCAGGAGAAAGAAGCACACCCCTGCCTAATCCTCCCAAGAGCTTGTCCCTGAAGGAGAAAACTGGAAAGATGCATCATGCTCCGTGGACCTACCTGTCCCCTCTTCAAAGCAGGTGGTATGAAATTTTCCCATATAAAATTCTAACCCTATGATTGCAAAAATAAGGATTGCAAAAAATAGGAGGAGGCCGATCTGCAGCAAAGGGATCATCGCCTTCATGACCGACTTCAGGACGACTTGTAAACCTGGGGGGACACAGAGAGAGGCCCCATAAGCCCATGAGCAAGTACCCCCAAACCCCGCCACCAAGACGCCCAGGTCTCTCCCAGACAAAGCAGGTGTGTTCCTGAGGGAACATTAAGCACCCAGGAGCCTGGGGATTGGGCAATGGTGAAGGAAGCACCACACGGAGGCTGATCCTTATCATGGGAACAACACTTCCTAGGTTTTTTTTTTCCTTTGAGACAGGGTTTTGCACTGCTGCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCTGCCTCAGTCCCTGCAATAGCTAGGACTACAGGCATGCACCACCATGCCTGGCTAAGTTTTAAAACTTGTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAGGCTGGCCTGAAACCCCTGGTCTCCAAGGACTCAAACTCCTCAGCCTCCTAAAGTGCTAGGATTATAGGTGTGAGCCACCATACCTGGCCCCTATTATTATTATTATTTATTTTATTTATTTTTTTTGAGACAGAGTCTTGTTATATCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGGCCCAGCTAATTTTTCATATTTTTAGTGGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGTCTTCCAAAGTTCTGGGATTACAGACGTGAGTCTCCACGCCTGGCCTTATTATTTTTTAAAAAGCACTTTTAACTTTAAAGTATTTATTTATTTATTTATTTTAATTAGCCAGGCATGATGGTGCATGCCTGTAGTCCTAGCTACTCTAGGGACTGAGGCAGGAGGATCGTTAAGGCTGCAGTGAGCTATGATTGTGCCACTGCGCCCCAGCCTGAGTGGCAGAGCAAGACGCTGTCTCAAATAAATCTATATATATATTTTATAGAGACAGGGTCTCACTATGTTATCCAGGCTGGTCTCGAACTCCTGACCTCAAGCGATCTTCCAGCCTCTGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACAGAGCCCAGCCAACTTTAAAGTACTTAATAAAGGTATTTGACATGCTGTTCCATTTGATGATCTTTTGGGCAAGAAAGGGGTGGGAGTCCATTGCTTTTGGAGCCATATTCCTGGGTGTTGGGCAACTTGCACCCAGAAGAGGGAGCCATTTTCTTAATTTTTTTTTTCTGCCAAGAGGCGGTGTCTTTTCCTCATTCATAAAAGGCCGCCATATAGGCTAGTTGCTGCTCTGGGTAGGAAAGCGGTTGGCGGTCCCAATTTCAACCCCAAGGAACCAGACTCAACATTATTTCACTGGCTTCTAGTGACAAGCCCCTGAGGTGGCCATACATGTAAAGTCACTCTCATTTTACAGAAGTGGGAAGCAAGGCTAACAGAGATGCTGTGATTCACCCAGAGAATGCATGAGAAATGGCAGAACTAGGCAGGGCGCGGCGGCGGTTCACGCCTCTAATCCCAGCACTTTGGGAAGCCGAGGCCAGCGGATTAACGAGGTCAGGAGTTCAAGACAAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTATCTGGGCATGGTGGCCAGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGAAGGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGACGCCACTGTACTCCAGTCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGCAGAACTAGGATTTGAACCCAGGTCCATCTGAAATGAAGCCCCATGTTTGCCCATGTGCTGATGTTGCTTTCTCTGTTCTGAGCAACCCAATTCAGAAAGATGGTGGTGAATAAGAAGGCAGGGGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC
Task1_train_26730
With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Episodic ataxia type 2
TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGG
TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCTTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGG
Task1_train_26731
Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 42
TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGG
TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCTTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGG
Task1_train_26732
The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Developmental and epileptic encephalopathy, 42
GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGGCTGACCTTT
GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCTGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGGCTGACCTTT
Task1_train_26733
This sequence change occurs on Chromosome 19, altering CACNA1A (calcium voltage-gated channel subunit alpha1 A). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Episodic ataxia type 2
GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCCGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGGCTGACCTTT
GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACTTCACAGGCTTGTTGGGAGGATAAAGGACTTTAAAAAAATGGAAATACTTAGAATAATGTCTGGCACATAGTAAGTGCTTTTTAATTTTTTTTTTTCTTTTTTTGAGACGGAGTTTCACTCTTTCATCCAGGCTGGAGTGCAGTGGCGTGATTTCAGCTCACTGCAACCTCCGCCCCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCACGCCCGGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATTTTGGCCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCCATCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGCATGAGCCACTGCACCCAGCCTATAAATTGTTTGTTTTTAAACTTTTTGTTGTCTGTTTTTTTGAGACAAGGTCTCACTCTGTTGTCCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAGATCCTCCTGCCTCAGCCTTTTAAGTAGCTGGGACTACAGGTGTGCACCATCATGCCTGCTAATTTTTTTTTTTTTTTGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTAAAACTCCTGAGCTCGCTCTATCTGCCCGCTTCGGTCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACTGTGCCCAGTCAACCTGGCTAATTTCTAAAAAAAAAAAAAAAATTTGTAGATATTGGCGGGGGGGTGGGGGTGGTGTTCCTCACAATGTTGCCCAGGCTGGTCTCGAACTTGTGGCCTCAAGTGATCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCATGCCTGGCTAAATTATTATTATTAACCAAGACAAGAAGATAGAAAAAGGACAGCCCTGTTTTATTTTTGCTTTTTACATTTTTTTTTGGCTCAACCTACACTTAATCTTGACCCTGCATATGGCAGCCACCCTTAAACGGGGACTAGATGTATCTGTGGAGAATGAGAAAGCAGCAAGGAATGAGTATGAATTTTAGAGCTCATTACTGTCCACTCTAAGAATTCAGGTGAGTAATTTAACCTCCTTAAGCCTCAACCGTCTCATCTGTAAAATGGGTGTTCGCTGGGTGACTGTGAGGATGAAATAAGGTAATTCATGTAAAGTCCTTCTGTAGTGCCCTGCACGCAGCAGGCACTCATTAAATGGGAATGGTCATTGCCACCAGTGGTACGGCCCAGGCTTGGAGTCACACTTGCTCACTCCTAGTTCTGCCACTTCTCAGCCACAAAACCCTGCTCCAATGTTTCAGCCACTCTGAGCCTCAGTTTCCCCCTCCATAAAATAGAGACATCAGTCCTATCAACTTCATAGGGCTGTGAGTACTGAATGAGATCACACGTGGTGCTTAGCATGGCTCCCGATAGACAGTAGGTGCTCAATAAATGGGTGTGGCTCCTAGTTTGCTTTCAGGAGCTCATGGGGAGCTACAGTCATATTCCTAGGGGGTTCCCTATAGGGAGTCCCAAAGAAGAGACTGCCCTCACACAGGCTGGTGGCAGGATGTGGCCTCCTGAGATGCTCTGCATAGGGGAAACTGAGGGCTCCTGGGGCCCGTGAGCAAACCCCTTGTCAGGGTCGGAAACTCACGCACTTGGGATTCCAGACACCAGCTTGAGCGGCCGCAGCACTCGAACTGCCCTCAGCGTCTGTAGGTCAAACTCCGTCCCAACTGTCGCCAAGATGCTGAAAGAAAGAAGCCAGAATGGAGAACAGAGGGTGGGTTTTGGGGGTCAGACAGCAGGGCGGGGGTGCTTGGGATTCCAAGCTGTCCTGTATTGGTTGGGTGACCACAGGCAGGTGACTCGACACCACTGGCCTCAGTTTTGTCACCTGTAAAATGGTCTTAACAGTACCTGCCTCACGGGATAAAAGGTGATTTACGAAGACCCCCAACAGATGGTTCATGTTGCACAAATGTTGCAATGAGAGAAATGGAATCTTCCCCATGGCTCAAGGTTGGGGTGACATTCAGTATATTTCACAACCTACAATGACAATAGATTGTGGGGTGGCCTGGGGCCCTGGGGGAATGGCAGACCTTTCGGGGTTTGTGGCTCTTTATTTTATTTTATTTTATTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCGATCTCCAATGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACTACGCACCCGCCATCATGCCCGGGTACTTTTTTTTGTATTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGGTGCCTGGCCTGGTTTGTGGCTCTTTAACAAATGGCAGGAAAGTAGTTCAGTGTTAAGAGCCCAGCCTGCATGGGTTCAGATCCCAGATCTGCCACTTTCCAGTTGGGTAACCTTGGGCAAGGGACATCCCTGCTCTGTGCCTCAGTTTCCCCCTTTTGTATAACCTGGATAACAATAGTATCAATACCTCCAAGGGTTGTGAGGATTCAGTAAGTTGACAAAAAGTGGTCAGCACAATGCCAGGCACACAGGTTACCGGTATGCTAACCTATTCAGAAATAAATAAGAAAACAAAAAAATGGGTGTGATCCTGCTTGTGTGGACCAGCCAGCATCAGCTGGCTAGAAGGCAGCTACAGACCCCAAGCCTCTGGTCAAAAAGAGTCCCTTTTGTAAATGCAAGTTAGTAAGGATGATAGCAGTAGGTGGGATGAGGCTTCCATAGAAACCCTCCGAGCAAGACCCTGTCATGAGACCTCATTTGTAAAAGTATTGCTGTTGAAACACAGGGTCCCACCTGGCCCTGTTTCCTGAACATGTCCATTTCAGAGCTAAGTGATGTACAGTGCGTGGTCAAGGCACAATACAATAAAAGAGACTGTCATCAGAACTTCATATAATGGACAAGAAATGCTGAATACCAGAGGGTCTGTGGTTAATGGAAGGTTGGTCACAGCAAATAACTTGGGGATTTTTCAGTTTATTTTTATTTTAGACATGGGGTCTTGCTCTGATGCCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCGCTACAGCATTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTACTGAGTAGCTGGGATTACAGGTGGGAACCACCACATCTGGCTTGATTTTTCAGTTTTATCCAGGGGCTTGGGTCTTAACACTTCAGTCTGTGGCCAACTGGTATCTGTACCTCTTGCCTTAGGGCTGTCTCCAAATCTGGGGCAGGCCCAGGGAATGAACTTTAAGGGAGCAGCCCTCAACCAAAGATTGCTGGGAGTTGGTGGATCAATACCGCAGCTCCCTCACCCTTCATTCTGGATCACTTAAGAGGTGAGTTCCACGTGGGCTCCCAGTAGGACGGAGCTCAGTTGCCTACAGGACAACTCACCCTTCCTTGCCCCACCTCCCCTCTCCTTCTCCAACCCTTCTGGGGTCACCTCTCAGATGAACTACTTGCACAAGGATTGCCCTAAATTCTTGTTTCAGGATCTATTCTGGGTCATCCTAAACTAACACAAAGCAAGTTCCCAACTTTTTTTCTCAAGATTACCCCTAGAGGAGAGATGGGCATATTAGGTTGGGCTGACCTTT
Task1_train_26734
A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Developmental and epileptic encephalopathy, 42
GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCC
GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTTGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCC
Task1_train_26735
This sequence change occurs on Chromosome 19, altering CACNA1A (calcium voltage-gated channel subunit alpha1 A). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Episodic ataxia type 2
GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTCGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCC
GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAACAAATCTGCATTGTGAGAGCCCGGCCAGCACAGTGTGGGTGCTGCAACCCATCACATCCGCCAAGAGAGACAGAACCTGGAGCAGCAACAAAACATGGAAAGCTATGATCCTGTAAATGATTACTATGAAAAAGGTGTCCAGTGAAGAAGGGTCTTAGAATAGAAGAGCCCAGACTTAGCTGAGAGGAGAGTAGAGAGTGGGAAGAGGAGGAACCAGCCATTGGTACCAGATACTAATGTCCCTACTGGAATCTAATAAAAGTTTTTAAGGTCCCTGACAGACTAGTAGGTCATTCTCCAAATCCATTTCCCTTTTCTTCTAAGCACAATCTGATACTTCCCAGCTTCCCTTGCAGTGATGTGTGGTCATGTGACCGAGTTCTAGCCAATAGGATATGAATGGAACAGGTATGGGTCACACCCCTTCCAAACTCATAAACCTTTCCAAGTATCACCTTCTATGCTCACTTCTCCTTCCTGGTTTGATACAGACAAGCATGGAGTTATTGGATGATGTGGGCTGACAATGAAGAGCCACAATATGGCAAGGGTCAGGGTCCGTCAGTCATTGGAGGAGATGAGCCTGTCAACTAGGAACAATTATTTTGGACTTTTTTTTTTCGAGATGGGGTCTTGCTCTGTTGCCCAGGCTGGAGCACGGTTGGATGATCATAGCTCACTGTGCCCTCCAACTCCTGAGCTCAAGCAATTCTCCCAGGCATGTACCACCATGCCTGGTTAATTTTTATTTTATTTTATGTTTTACAGATGGGGGGGTGGTCTCACTGTGTTGCCCAAGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGCACCACCACACCCAGCTCAATTTTGAATTTTCTATGAGTGACAAATAAACTTCTGCCGTGTTTAAGTCATTTCCTAGCTTTGGATCTTTTGTTATACCAGCAAGTGCTACCTCATACAGGGTGCTTAGAGGAAAGCATATACACATTTCAACCACAGTTCATCATATATGGATCTGAAAACTCCTTGAAGACAGTAACTGTACCTTATTTAGCTTGCTTTTCTCCTTTGTCATAATCACAATCCCTTGCACCCAGACATTCTCAAAAAACATTCACCAAGTTGAAATAAAAGCAAGATATCCTCAAGCAAATCAAGAGACCCATGCACGTACAACACTTAAAACCTTGAGTTCTGGAATGCATAATCTTCTGTTCATCTCCCAGTTCCATCACTTACTTGCTGGGTGGCCTTAAGCAAGTTACACTCTGAGTTTCTGATTCCTCAGTGGTCAGATGGGAATATTAATATTTCCTAATTCAGTGGGTTGTTGCAAGGATTAAATTAGAGAATGGGCATAAAGCACTCTGGAAGCAGCCAACAATAATGAGCTATTATTTTAATTGTAACAGAAAGCATCTGCTGTAATATACAGCTGAGACATGGAGGTGGGGTGTTGGCAGAAAGGAGGCAGGCGCATAACAAGGGGAGGGAGAACACAAGGGCTCAGCCTTCCTGAGCCTGGCCCGGACCACACCAACCAAAAGCCTCGTAATCCTTCAGCTAGTTAAATCCAAAGCGTATAGCACGCGCCACTTACCCCGTTAGCACCACCACAAAGTCCATGACATTCCAGCCATTCCTCAAGTAGGAGCCTTTGTGGAAGGCAAACCCAAGGGCAATGATTTTAATTCCAGCCTTGAAACAAAAAATTCCAATGAAGTATGGTTCTGTGTCATCCTGGAAGGGAGAGAAGGCAAGGTCAGCGTCTTGGGCTGGGCAGATGTTGACAAGATCAGGGAACCAGCCCACCTAGAAATCAGTACCTATCACCCTCTCACTTCCCCTGACCCTCCTGCACTCACCACCCCTCACTGCCTCTTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCC
Task1_train_26736
This mutation occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 42
TTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCCTCCTCTGTGCCCTGCTCCACTCCCCCAAAAATTAATGTCCTGCTAAAGCCAAGGAGAAGACCCTGAGAAAAGACATCACTCACCAGCCGTTCAGACATCGGGGTCTTGTCATCATCAGGCAGATGCTGCTCCAGTGCGAGGACGATGCAATTCGCTATGATGGTGGCTAAAATCATATATTCAAAGGGAGTATTGGGGAATTAAGGAAAAATCTTGTTCAAAGAAAAGAAGGGTGTTGGAGGTGCACCCACCCCCACTGACCCCAGTGGAAAGATCTCAAGCCCTCTAGATCCTTCCAACTCATCAGCACAGGTGGAATTATTCGTTCTCCTGTCTGGAGTAGATCCCTGCAGATCTCAAACCCAGATCAGGTGACTTCTAAAGGGAAATGTGGATATTCACCTTCTATCTCACCCACAATATTCACTGAACACATATTCATTCAGTACCTGCTGTGTGCCAGACTCTGTTCTGGGCTAGGGACACAGTTGAGAGCAAAGCAGACAAGAGGAGAAGCTTCCTCCTGCTTCCCAGAGGAGAAGCAAATAAATGAGATGACTACATCATGTATACTATGCTATACAGTACACTGCATATACCATGTTATACAGTACATCATATATGCTATGTTATGTAGTAAGATGGTGAAGACTATAGACAGTGGAAGGGGTCAGGGCTGCAATTTCAAATATGGTGGCAGGGCCAGCATGATGGCAGGCACCTGTGGTCCCAGGTACTTGGGAGGCTGAGGCGAGAGAATTGCTTGAGCCGAGGAGGTAGAGGCTGCAGTGTACAATGACTATACCACTGCACTCCAGCCTGGGTGACAGAAGGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGATAAATTAAAAATAGATAGAGGCTGCGGTGGGTGGATCACTTGCGGTCAGGACTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTACACACCTGTAGTCCCAGCTACTTGGGAGGCCGGGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAAATAATAAATAAATAAGTAAATAAATAAATAAAACATTATGATCAGATTTGACACCTAATGCATGATCCACAGAAGAAAAAACAGATATGCTGGGCTTTATCAAAATTTAAACCTTTTGTGCATCAAAGGACGTTATCAAGAAAGTTAAAAGGCAAGTAACAGAATAGGAGAAGCTATTTGCAAATCATGTATCTGATAAGGGTCTAGTACTATATAAAGAACATTTACGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTATCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAATAAAAAATAAAGAGAGAACATTTACAACACAACAACAAAAAGATAATCCAATTGAAAAATGGACAGGAGGCTGGAATAGACATTTCTCCAAAGAAGACAGTCAAATGGCCAATATGTACATGAGGGTATTAGTGATCAGGGAAGTGCAAATCAAACCCCAACGGGATACTGCTTCACATCCACTAGGATAGCTATTAAAAACAAACAAACAAACAGAAAACAAGTGTTGGTGAAGATGTGAAGAAATTGAAACCCTCATGCTGGTGGGAATATAAAATGGTGTAGCTGGCCAGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGAGGATTACTTGAGCACAGGAGTCCGAGACCAGCCTAGGCAACAAACTGAGACTCTATCTCTACAAAAAATATGAAAAATTAGCCGGGCATAGTGGCGCAGGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGAGAGAGGATTGCTTGAGCCCCAGGAGGTTGAGGCTGCAGTGAACCATGACTGCACCACTGCACTCCAGCCTGGGCAATGGGAGTGAGACCCTGTCTC
TTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAGAATTTACTTGTCACATGCAGCGTTCAAGGTATTTGAGGCTAGAGCTTGTGCATTGACCTCACTCCTAAATCTGACCCCTTAGGATGGTTCTCAGCTGGCATGTAGATTGTTAAAGGTTTGGAATAGGACTTCTGTACTGGCTGATAAGTGGCCAGTATCCTCACCTCCAGTTCCTCTGCAGAACCTCCGGCTGGTTCTGGCTTCCAGCTGCTAATCTATCATATTTGAAATTAAGCTACAAGCTCTTCTCCATCAGAGCCCCAATGTGAATGTTTTCCCATCTGTTACAGCAACGTTTCTCGAGCTACAATCATTTTCACTCTGCCTGAATGATTTTTTTTTTCCACATTAGCTTGCCACTGGTACTTCTACTTGCTTACCAGTCTTTCAATGGACGCTTTTTATTTAGCTTTATTTTAAGTGAAAATGCAAAGATCTAGAAATCATAGGTTTGCTAGGCTAGTTATAGTTTTTAGAAGACTGTGACATTGTGAAATGTATGTTTGGTCTTTGACACTGTTTCCTGGTGTACAGCTCCTAAAACCCTTGGGATCTCCAAAGGGATGTCTTTTTGCAGGCTAAGGATTGACTGATGGCTGGCAGCTTCTAGGTAGCTTCAGGATGGGGGTTGGTCACCGGGAAAACCAAGGCATGATTAGAGGTTTGGATTTAAATCATTGACCGTTGGTGATCAACTTGATTTTCAGCCCCTCTGCCCTCCCAGAGGTTGGGGGGTGGGGCTGAAAGTCGCAACCCTCGAATCATGCCTTGGTCTTTCTGGTGACCAGTCCCCCTCCTGAAGCTACCTAGAAGCTGCCAGCCACACCCTTCTCCTATATCTCACCCTTTGCATCTCTTCATCTGTATCCTTTGTAATATTCTTGTTTCTTTTTTTTCGCCTCCCCCCCACCAAGATGGAGTTTCACTCCTGTTGCCCAGACTGGAGTGCAATGGTGCGATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATATCCAGCTAATTTTGTATTTTTTTAGTAGAGACGGGCTTTCACCATGTTGGTCAGGATGGTCTCGAACTCTTGACCTCAAGTGATCTACCTGCCTTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCTACAGTGTCTGGCCAAGACATAATTATTAACATTAACAATGTTCATTTGAGTATACTGCCTGAAATTATGTCAGATGCCAAAGTGGGCAGTTTGAGACCAGCCTAAGCAACCTAGTGAGATCCCCATCTCTACAAAAAAAGATAAAAATAAGAAAATTAACTGGGCATGGTGGCACCTGTAGTCCCTGCTACTCAGGAGGCTGCAGTGGGAGGATGGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTATGACTGAACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGGTTCAAGAAAAAATGAAAAGGAAATTTAGGCTTCCCATGATCTGGCTCTGGGCTCCAGGACTGAGAGCCTCCTCTGTGCCCTGCTCCACTCCCCCAAAAATTAATGTCCTGCTAAAGCCAAGGAGAAGACCCTGAGAAAAGACATCACTCACCAGCCGTTCAGACATCGGGGTCTTGTCATCATCAGGCAGATGCTGCTCCAGTGCGAGGACGATGCAATTCGCTATGATGGTGGCTAAAATCATATATTGAAAGGGAGTATTGGGGAATTAAGGAAAAATCTTGTTCAAAGAAAAGAAGGGTGTTGGAGGTGCACCCACCCCCACTGACCCCAGTGGAAAGATCTCAAGCCCTCTAGATCCTTCCAACTCATCAGCACAGGTGGAATTATTCGTTCTCCTGTCTGGAGTAGATCCCTGCAGATCTCAAACCCAGATCAGGTGACTTCTAAAGGGAAATGTGGATATTCACCTTCTATCTCACCCACAATATTCACTGAACACATATTCATTCAGTACCTGCTGTGTGCCAGACTCTGTTCTGGGCTAGGGACACAGTTGAGAGCAAAGCAGACAAGAGGAGAAGCTTCCTCCTGCTTCCCAGAGGAGAAGCAAATAAATGAGATGACTACATCATGTATACTATGCTATACAGTACACTGCATATACCATGTTATACAGTACATCATATATGCTATGTTATGTAGTAAGATGGTGAAGACTATAGACAGTGGAAGGGGTCAGGGCTGCAATTTCAAATATGGTGGCAGGGCCAGCATGATGGCAGGCACCTGTGGTCCCAGGTACTTGGGAGGCTGAGGCGAGAGAATTGCTTGAGCCGAGGAGGTAGAGGCTGCAGTGTACAATGACTATACCACTGCACTCCAGCCTGGGTGACAGAAGGAGGCCCTGTCTCAAAAAAAAAAAAAAAAAAAGAGATAAATTAAAAATAGATAGAGGCTGCGGTGGGTGGATCACTTGCGGTCAGGACTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTACACACCTGTAGTCCCAGCTACTTGGGAGGCCGGGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAATAAATAAAATAATAAATAAATAAGTAAATAAATAAATAAAACATTATGATCAGATTTGACACCTAATGCATGATCCACAGAAGAAAAAACAGATATGCTGGGCTTTATCAAAATTTAAACCTTTTGTGCATCAAAGGACGTTATCAAGAAAGTTAAAAGGCAAGTAACAGAATAGGAGAAGCTATTTGCAAATCATGTATCTGATAAGGGTCTAGTACTATATAAAGAACATTTACGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTATCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCATCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAATAAAAAATAAAGAGAGAACATTTACAACACAACAACAAAAAGATAATCCAATTGAAAAATGGACAGGAGGCTGGAATAGACATTTCTCCAAAGAAGACAGTCAAATGGCCAATATGTACATGAGGGTATTAGTGATCAGGGAAGTGCAAATCAAACCCCAACGGGATACTGCTTCACATCCACTAGGATAGCTATTAAAAACAAACAAACAAACAGAAAACAAGTGTTGGTGAAGATGTGAAGAAATTGAAACCCTCATGCTGGTGGGAATATAAAATGGTGTAGCTGGCCAGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGAGGATTACTTGAGCACAGGAGTCCGAGACCAGCCTAGGCAACAAACTGAGACTCTATCTCTACAAAAAATATGAAAAATTAGCCGGGCATAGTGGCGCAGGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGAGAGAGGATTGCTTGAGCCCCAGGAGGTTGAGGCTGCAGTGAACCATGACTGCACCACTGCACTCCAGCCTGGGCAATGGGAGTGAGACCCTGTCTC
Task1_train_26737
Gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Attention deficit hyperactivity disorder
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGAAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
Task1_train_26738
Located on Chromosome 19, this mutation impacts ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Global developmental delay
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGAAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
Task1_train_26739
The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Autistic behavior
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGAAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
Task1_train_26740
The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Seizure
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGAAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTT
Task1_train_26741
This alteration in ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Global developmental delay
GGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACATCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTTTTGTTTGTTTGTTTTGGAGACAGAGTTTTGCTCTGT
GGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGTGCCCTCAGAGACTGGTGACCAGCTGCATCTGCCCGTCCCCATCGGGCCCTGGCCCCTCAAGGCCTGGGGCTGCCAGGTAGCCCTCGTGGCTAGGACGCCGCACCTGGTAGTAGCCCTGCAGGGGATTCCGGGCCACCAGGGCTGGCGGGCGCGAGGTGTAGTAGATTTCGGGGGGGCCGGGGGGTGCGGGAGGGGGTGGGGGCAGGGCCTCACTGGGCCCCTCAGGGCTGCTGTCCGGGTAGGAGGGTGAGTCCCGCAGGTTGGCCCCGCTGGCATAGAGGGAGTCCCGGCCAGGAGGGGAGGAGAGGGGCCGGCTGGTGGCGCCGTCCTCGGCCGTGCAGCTCTCCGACTCGTCCAGATCGCTCTGGTACAGCACCGACTGGGCCCGGGGCAGCAGCAGAGGCTCCTCCAGGGCCTTATAGAGAAGTTCAATCTCGGCCCGGTCAGCACCCCCGGGCCCGCCCGCCTCTTCCTCGCCCCCGCCCCCTGGCACAGGTGGCACAGGGGGCTCAGGCGGTGGAGGGCCCTTGGCCGCGCTGCTGCTCCCCCGCAGGTTGTTGTGCACCAGCTCTGAGATGATCATCTTCTCAAAGGCCGCCGCATCGGCTAGGTTCCGGCCTCGGGGCGGCTCAGGGCCCCCATCCCCGGGAGGGAAATCCCCACTTCGCAAGGAGTAACTGTTATTGAAGTTGCCGTTCAGGGGCAGGGTGTCCATGCCACAGGCTTCCCGGCCTCCCAAGGGGTGCTCTGCAGGGCAGAAAGGGGCTGGTCAGGTTGAAGAGGGGCCCTGGATGCACTAGGGGACAGTGAGGGGGTGCGGTCCATGTGGAGAAGTGGGCTTGATTCCTGCTGGTTTTCCGTAGGCTTCCCCCTGCCCCCTGGATCTCTGATCTCACATTCCCTTTCTCCCTCACTGGCACTAGACACACCAGCCCAGCAGCGTATTGATGAAAGGTGGGGGACAAGGACCAGTTCCCCCAGGATCTCATCCCCAGCTGGAGGTTCAGAATCTCAGCAGTGTGAGGAGGCCTGGGCAACAGGATCGCTTTCCTGTGCTCAGACCCTCAGCACTTAACAGCCCAAACTCAATGAACACCATCCATTATCCTCCATTCGGCTGCCAGAGGCTGTGTGTCGGGGGGTGGGGAAATGTGGGCATGGGGAGGCATCCCGAGTTCTCCTCCTTAAGTGAGGCCGTCTGAGAAGGCCACTGTCTGTCCCTCTCCCAGCCTCAGAAACATCCCCAGGGAAGAGTCACACTTACTGGGTTCCCGGTAGCTCCCTGCAGGTGGCAGCCAGAAGAGAGAAGAGAAAAGGCAAGGATGAGCTCGAAATGCAAGTCCAGGCTCCAGTTCTGGGGCACAGAACATCCCATGCAGAGGTCCCTTGGGACACAAACCCTCCATTTCCCAACCTGGGATGTTTCCCCCGTGCTCTCACCTGGGGAGTTGAAGACAGGGGGCGAGGAGGGATTGAAGCCCACTGACTCGGCGATGAGGGTGTTGTAGGGACTGGTGCCCCCACGGGGCTGCAGCACGGGGTTGGTCAGCAGGTGGTTCCCCATGGTACCTGGCCAAAGGATCAGAGGTCACAAGGCAGCCGGGAGCCTCCAGAGACTGAAGCCAGAGGCAGAAGGATGCCTTCTCACCTCGGTTCAGGGTGGGGGTGCTGTTGATGTCACCCGCCATGAAGGAGGACTCCGTCTGTTTCCTCACAGTGTCATTCCACGTCCTCCGAATTCGGCTCTGGGAACACAACCCAAATGTGAGGGGATCCTTGGGCCACCCACCCTCTGGCGTCTTTCTGAGACTGCTCACCTGATCATCACGATCAGAAACCTAGGCCAAGCCACTCCCCACCTCTCAGGCTCCAGGTTCCAACACTCAGCCCCAGGGAGTCCTGTCTGGCCCGATACCTGGGTCCCTGTGTAGTAGCGGGTGTTGCTTCGCATGGCTGAGGTCTTGAGGGATCCGTGAGTGCCCCCGGGTGGGGAGCGGATGCAGCAGTAGGAGTGACGCAGGCACTTGCTGTACTCCTTGTGCACCTGGGAGGTGGAGGACAGTCAGCTGGCTGGGACACTGGCCTCCTCTGTGATCCAGTCTCCCACAGGGCTGGTCACAAGACAGGCAGCCTTGGGAGGCCGGAGACCGAGCTTCCAATGACTGTGTTCCCCTGTTCAGCGACTTGCAGGCCACGGAAGCCTTGATGTCCCCTGTCCCCCAACAGCCAGCCGATCAGGTTTCACTCTCTTCTTACTCAGGCCCATCCTCTTCTCCACCTCCTCTGACAGTTTTTCATTCATTCATAAAATCAACAGAGCATTATTGAGCATCCGCTATGTGCCAGGCACAATTTAGGCCTCAGGGAAGGTATGGAACACAACAGACACAAATCCCTACCTCTGAGAGCTTATATTTCAGTAGACAGAGACAGAACATAGATGAAAATATAAATATGCAAGCTGTTGGATGCTGTTAGGTGCTGCGGAGAAAACTATGGCCAGAAAGGGGGTTAGGCAGTGCTGACTTGGGAGCAGGTTGTGATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATCTTGCACTGTCACTCGGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCACACGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCACCACACCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTGTGATTTTAAATAGATCAGAGGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGCAGTGGGCGTCTGTAATCCCAGCTAGTTGGCAGGAGAATTGCTTGAAGCTGGGGGGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGGACAGAACGAGACTCTGTCTCAAAAATAATAATGATAATAAAAAAAAAACCTAAAAAAATAAATAGATCAGAGGAGGCCTCATTTAAGCCAAGGTAAGAACGGGGGCTGCACCCTGAGGGTCCACATCTAGGTGTCTGAGAGCAGAGGTTGGAGGGAGGGGAGCCGAGGGGCCCAGATCAGACCATAGGGGCCTGGGGTCCCCTGAAAGGACATTGCTGCCACTGCGTGTGAGGTGGGGGCTGTGAAAACACTGCCTTTGACCGTGTGTCCAAGGAGGGGCCAGGACAATGTTGGACAGAGCAGGGACACAGGCCACCTCCTCCCTTGCAACCAGGATTCTCATGATCACTGCCTCTGCCATCCCCTGCCTTAAGCCTTACCTGCCTCACCACTCCCCAAGTCCAACAGCAGTCTCCATGGCCTGCACTGCTGCCAGGACTGACTCTACAAATGCCTCAGCTCCGTCTCCCCAGCTTCAGTCCTGAGGGTGCTGCCAGTATCCCCATTCCCTGCCCATGTTCCCCAGCTACTGTTGTCCCCTTTGGTTTTTTTAAATAGAGACGGGGTCTCTGTTGCCCAGGCTGGTCTTGAATTTCTGGGCTTAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCCTTTGTATGTGTGGTTTTTTTGTTTGTTTGTTTTGGAGACAGAGTTTTGCTCTGT
Task1_train_26742
A variant was discovered on Chromosome 19, affecting ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Attention deficit hyperactivity disorder
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCAGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCGGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
Task1_train_26743
The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Global developmental delay
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCAGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCGGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
Task1_train_26744
Located on Chromosome 19, this mutation impacts ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Autistic behavior
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCAGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCGGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
Task1_train_26745
This mutation is located in gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Intellectual disability
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCAGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGATCCTTTCTATCACCACAAAATTCACAATTCTTTCCAGAACTATGAATGTAGGCAGTGCTCCCTCAGGGTGGCTCCCAAAGTCCTCCCTCTCCCAGGCCTGACTCGTGGCCCTCATGGTGGTGAGGGTTCCCCATTACCAAATCTGTTCTGCTCTCACTCCTCTAAGTTGCTGTATCTTGTTTTCCAGAACCCTCTTCACCCGTGGTTAAACCCTCCCTAACCCTGAGCTCGTGCTCCCCTCCCGGTGGACGCAGACCTGACCACAGAAGCCCTGCAGCACTCACTGGGGGCTTGAGGGAGCCCCTGAGTCCCCTCCACCCTCGCCGCCTTCTCCTGGGTACCCAGGAAACGTCTCCAAGGGAGGCTGTGACCCAGGACCCCGCCTCGACCTCACCTTCTTCTGTAAGGCGCAGTGAAAGACGAAGATGAAGACCCCCTGGAAGGCGTTGAAGGTGGTGAAGAGATAGGCCATGACCACCGACTCCTTGTTGATGAAGAGGAGGCCGAAAGCCCAGGTGAGGCCCAGCAGGAACAGCAGCGCGATGGCCCCCAGCGCCCAGGATCTGGGAGTGGGGCGACAGGGGAGTCAAAGTACCCGCCGGAGGGGACGGCCTCAGCCCAGGCCTCCCCTGCAGCCTACAACGGGGGCCCTTGGGTGGGCCTGGGCACTGTCTGCAAAGCCCTGAGCGGGCCGAGTGGGCCTTGGGGGCAGTGGCCTGCCCAGGACACCTCCACCGGAGCCTGGGCCTGAGGGAAAGGTACTGGGTCAGGGGTCGGGGTATTGTGAACATCAGTTATTCCTCTGCCAACTTCATTGTTTCTGCTAAATTTCCAGACCACTTAGGCTATATTTGCTGCCTATTTCTCTTTAAGTTGCCCTTAAACAGACTCACCTTTTGAATTTAGCCTCAGCCTACATACCGATGCCCCTAAAACCACAGGTTGGACGTGCTAATGATACGCTATCTAAGACCCATTAAGTAGGTACATAGTGAACACAATAGAACACCCCTGTTGGTACTTAAAATTGCAATGTGTGTCACCAGAGGTGACAGCACTACCTTTTAGGACACCCTGGAAGAGGTGGGCCCAGCGTGGGGCGGGGGTGGGTGATGGGGCAGGGGGCAGGCAGGGGCGAGGCTCACTTAATGTTGTCCAGGCGGCTGGAGTCGGGCTTGAGCACAGATGAGCTTCGGATCATCTTGTGCAGGGTCACCATGAGGAACACCAGGTTGACCTGGGGGCGGGACAAGGGGCAGGCTGGGCTGAGAGTGGCCCTGCCTCCCTCAGTGAGCACTGAGGCTAGGGCCCAGCCTGGCGAAATCTCAGCTGTGGCCCTCGCCTCTGCTGGGAGAACCCCGTACCTGCCCCTGAGGTGCCCGCTGTGCAGCGGTGAGCTGATTGGCATGACCGGCAATTTAATGCCACTCCTGGCTGCTGGGAGGACAAGGCCCATGGCCTGACACACACTAGGGGCTCAAATCACAGCCCCCCAGGCGAGCAGCCCTCAGCACTGGAGCTCCATGGACCCAGCACACTTTCATCCTCTCAGCCGGTGGCTCAGTTCCGATGTGTGGAGAGAGAGAGAGTGTGTGTGTGTGTGGGGGGGGTGGGGGGCGGGGGCAGGGGCTGGGGTCAAGGCCAGCCTGGATGAAGGAAGATGTGGTGCTAGGGGTGTCACCTCCCAACTCACCACGATAACGAAGGAGACTGGCCCGATGAAACTCCGGATGAAGTAATTGTCCACTCGGAGCCAGCAGCTGTAAAGGAAACAGGGCCGGGGTATAGAGAGAAGCCGAGGAGCCATTCCCAGCGACTCATGAAGGCCTAGGACTCTGCAGGCTGCAGCCTCTGGGATCAGGAGGAGGAAGGGACTACCGCCCTGAGGGTCCTGGTCCAAGGGGTGCCGCCCAGCAGGGAACCAGGTGGGAGGGTGCAGGGCTGGGAGGTGGAAACTCACGCCTTCTCGGTGCCGTAGCTGCGGTAGTCAATGGCAGCCGCGATGCCCACCACCAGGGCCGGGAAGCAGTAGCCACCCAGGTAGTAGTACTTGGTGCGGGAATACTCGCTCTCAAACACCTCCACTAGTAGCAGGTAGAGGTGCACGCCCTCCAGGCACAGCCAGGAGAAGGCAGCCAGGAAGAAATAGTGCAGCAGGCCGGCGAAGATGGGGCAGGCAATCTGCGGGGAGCACTGAGGGTGAGGGGCTGCTGCCTGGACAGGTGTCCCCCTTCTTCTCCCGGCCCCCAGGCGCTGGCCGTCACCTGCCCTAGAGTCCCAGCCCACCTCATACTGAGTCTTGTCGATCCCGACCAGGAAGAGCAGCTCAGCCAGGAAGAGGTTGATGCACAGGTTCTTGTGGATGGTGTTGCGGTCGGTCTGCAGCCCCCGCAGGAAGCAGAAGGTGGAGATGCAGATGGCCAAGCAGACCAGGGAGATCACAATGCCCACCCAGGTGATGACCGACAGCAGCAGCTCGTTGATGCGGCCCTGGTACTGGGGACAGGAACAGGGGGCACGCTCAGGGCCTTTGGTTTTGCACGCTGGGCTCAGCCAGGTGCCAGCCACAGACAGGGCCCTGGGCAAGGCCATGGGCCGTGAGGACCTCTGGTGCCGCCAACCTGGCAGCCCTCACCCCTCTGCACGCAGCAATGCGCTCACTTCCTCATGCTCTGGAAGGCTTGTGGAGAGATGACCAACGTAACACCAACTTGCTTCTCCAGAGTGCCTTGGGAGACGGTGGGATCATGGCCATAGAGGACCAGACGCATGGCCTCATGCCCCAGGCAAGACCAGGGGCCCCCCACACCCATGGGGCTAGCCTCCCCTGGTACTGCCCGTGATCTCTCTAGGATGCCATGCAAAGCCAGGCCAGCAATCGGGCCTGCCTGGAGGAGCAGAGCACCAGCCAGCTTACGATCTCACGGTGAGCCATGAGCACAGCGAAGTTGGTGAGGTGGCTGCAGGCACACGTGGTATGGGTCTTGTTGGACTCCACCAGGCGGCAGCCTTGGGTCGACCAGTAGCCCAGCATGGAACGCTCCGAGTAGTTCCAGAAGGAGCAGTTAGCATTGAAGTGGTTCTTGTCCTGTTGTGTGGTGGCACCAGGGTGTCATAACTAGAGTCAGAACCGGGGAGTCCCATTCCGACCCCCCACACCTGGCAACAGGGATGGTACCAAGTATCAAAGAAGTGCCTGGGGTCTGGGGCTCCAGTTGACATTCTGAGAGCTCTGGGGACAAATGGCCCAAGCTCTAAAGTGGAAGAACCCATAACTTGTTCTGGAGGTGAGCACATGGAGGGGCAGGTACACAGCCTGGGAACACAGAGGGTACAGGGACCCCCATGGAGGGAGGGGGACGGCTCAGCTCACCTCCAGGTGGGCCACGGTGAAGATGACAGGGTCCATGAGGAAGACGCGGCTGGACTCCTTGTTGATGGATGCTGCGATGACCTGTGAGTTCACCACTAGAGAGGCGCCCCCAGGGCCACCCGGGCCTGCTTCGCCGGCCAGCTTCACTGTGGCATTCTCCGTGGACAGGAAGAGGCCCAGGTTGTTGTAGAGGATGAAGACAACTTTGACCACCCCTGGTGAGAACAGGCACGTTTGGATGTGTCAGCATCCTCAGCTGGCGCACCTCCATCCAGGCCCCTGGCTTCCCAGCTCAGCCAGCTCCTCAGCCCTTGGCCACGCTGGCCACTGGGACCTCTGAAGCCAGTCCATAGCCCAGGCAGGTGGGGGTCAGGGAGCCCTGTCCACAAGACCACTGCTCAGC
Task1_train_26746
A mutation on Chromosome 19 affecting TECR (trans-2,3-enoyl-CoA reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Intellectual disability, autosomal recessive 14
CCTGGGAGGGCGGTGGAGGAGTGAGCCTTGCCCCTGCTGAGGCCGGGCCTGGGGGAAGGGGCTTGCGCTGTCCCTGGGGAGGACAGAGGGCCTTTGCTCCTGGGAGAGTCATGGGTGAGAAGTGGAGAGGAGGGGCAGAGAAGCAGGCTTGCCTTCCCATGCTTAATCCGCCACTAGCCGGGCTGGGGGCCTGCTGGCTGAGGGTAAAAGTGGAGCCCCAGACCCCTGCTGTCACTGCACTGGCAGGGCCCTCGGTGGTCCTTCCCTGACTGCAGGCAGAGGCCTGGACCCCAGCCCTTCCCCCTTCCCATAGCTACAGCCCAACCCCCAGCCTGCCATCCCCTTTAGTACCTCCCCATCCTGAGTCTGGGCTCCCCGCAGAGCTGACGTCCCTGCGCCTGTGCTTCCCCCAGGTGGAGCCCCACGCCACCATTGCGGAGATCAAGAACCTCTTCACTAAGACCCGTGAGTTCTAGTCCCGGCCACACTGCCCCTGCAACCCCTTTGACCAGGGACCTTAGGGTGGGAGGGATCCCATCCTGCACCCCTCTCCCAGGGGCCTGCAGAGATGCCCCAGTGTGGCCCAGGCTTCTGGGGCGTGACTGGGGCAGGCGCCTCCACGTGGCACTCCGCAGGAACGCCCTTGCTAGGCTCTGGGAAGGACAAGATCCTGCTTCTGCCCGCGCTCTTCTGGCTTGTGTCCTGAAACCGCACAAGCCTGAGGGTTTGCCCCCAGGTGGGAGGAGCTGTGGAGTCCTGGGGTCCTTGCACCCTGGGAACCCTGAGAAGCTGGCACAGTGGCTGGGCAGCGGACCGGCTGAGCCCTGCCAGGCTGTGGGCTGTAACTGCCCTGTTCTCCCCGCAGATCCGCAGTGGTACCCCGCCCGCCAGTCCCTCCGCCTGGACCCCAGTGAGTACAGCTGTCCACTCGGCCCGCCCCCTGGGCTCCTGGGTGGCAGTGGGAGAAGGCCCGGGTAGCCCCTGAGCCCTGGCCCGCCTCTCTGCAGAGGGCAAGTCCCTGAAGGATGAGGATGTTCTGCAGAAGCTGCCCGTGGGCACCACGGCCACACTGTACTTCCGGGACCTGGGGGCCCAGATCAGCTGGGTGACGGTGAGTCCTGACCCTACCCACGGCCTCTTTTCCCGTCAGCCACGTTGGGTGACTCATCTTGCCCCCCTCTACTCTCAGGTCTTCCTAACAGAGTACGCGGGGCCCCTTTTCATCTACCTGCTCTTCTACTTCCGAGTGCCCTTCATCTATGGCCACAAATATGACTTTACGTCCAGTCGGCATACAGTGGTGCAGTAAGTGGGGCAGGTGGGAGGAGGGTAGGGGAAGGCAGAAGACCTGCCGGACCAGCCCCAGCTGAGCCTGCTCCCCCCGACCAGCCTCGCCTGCATCTGTCACTCATTCCACTACATCAAGCGCCTGCTGGAGACGCTCTTCGTGCACCGCTTCTCCCATGGCACTATGCCTTTGCGCAACATCTTCAAGGTGAGAGCCCGTCCCCGCCTCACCCCTAAGCCCCGCCTTTCTGCCCCACCCCGCCCCGCCCCCACCGAGCCCCACCCCAAGGCCCTTCCTGTCTGCCACTACGCCCCAGCAGAGCCCTACCCCTAGGCCCCGCCTAACCTCCCCAGCCCCGCCCTCGCAGAGCCTCTAGACCCCGCCCGTCCTCCCCAGCCCCGCCCCCGTCGGGCCCCTAGGCCTGCCTATCCACCCTAGTCCCACCCCTAGGCACCGCCTATCCCCCCAGCCCCGCCCCTGCAGAGCCCCGCCCCAGTTTCACCCCTAGGCCCCTCCTGTCCACCACGCCCTCACAGAGCCCTGCCCTAGCCTCACCCCTTGGCCCCGCCTATCCTCCCCAGCCCCGCCCCAAGGCCCCTCCTGTCCTTTCCCACCATGCTCCCAGGCCCCTCGGGATGAGACATGGGCAGCATCTGCCTTGTCCGGTGCTGGCCCAAGTCCCATCCCTGCCCTGCTCCCTTTCAGAACTGCACCTACTACTGGGGCTTCGCCGCGTGGATGGCCTATTACATCAATCACCCTCTCTACACTCCCCCTAGTAAGTGGCCTCAGACCATCCTTCCCTCCCCCACGGTCCCCACCCAGCGGGTCCTCCCCTCATGGGCTCCCCTCCCTGCTTCCTCTTCAGCCTACGGAGCTCAGCAGGTGAAACTGGCGCTCGCCATCTTTGTGGTAAGGAGGCTGGGTGTGGGGACGGGGTCGGGGGAGTCTGGGCGGCCCTAGGCTGATCCTGCTTCTCTGACAGATCTGCCAGCTCGGCAACTTCTCCATCCACATGGCCCTGCGGGACCTGCGGCCCGCTGGTGAGTGCCTGCTGGGGGCAGGGGGACAGCTGGGCTGGGTGAGGGGGTCTGACTTTCTCCTTCTGTCCTGCCTGCCAGGGTCCAAGACGCGGAAGATCCCATACCCCACCAAGAACCCCTTCACGTGGCTCTTCCTGCTGGTGTCCTGCCCCAACTACACCTACGAGGTGAGGGGCTGCCTTACCCCTCTCTGCCCTGGGACTTGGGGTCCCATGTGGAGGGACCAGCCCCTAGGATGGGGCGCCTGGCTGGGCAGCTGCTTTTGCCGCCTGCACTGCGAGCATTGGGAGGTGGAGACCGCGGCCTCTCTGCTGTGGTGGCGGGGAGGCGTGTGCCGCTGGGCTTCCGCCGTATACAGCCCCGCCTCCGCTGGAATTGGGTTCCCATCCCTGACTCAGAAAGCAGGGGCGGCGGGAGGTGGCTGGCTGAGTCCAGGACAGCCACATACACGGGTTGCGAGGCTGCCCACGCTCACTCTCCGCCCCTGCCCACAGGTGGGGTCCTGGATCGGTTTCGCCATCATGACGCAGTGTCTCCCAGGTGAGCCTGCCGCCCTCCCTCGGCGGGGCCCTGCCCCTCCGGGCCGGCAGCCCCTCCCTGACGCCCGTTCTTTCCTGCAGTGGCCCTGTTCTCCCTGGTGGGCTTCACCCAGATGACCATCTGGGCCAAGGGCAAGCACCGCAGCTACCTGAAGGAGTTCCGGGACTACCCGCCCCTGCGCATGCCCATCATCCCCTTCCTGCTCTGAGCGCTCACCCCTGCTGAGGCTCAGCCCCTCAACCCGGTGGCATTCTGGGGGAGGAGTGGGGCCCACAGCTCTCCAGCACCCGGAATAAAGCCCGCCTGCCCCAGTCGGACTCGGGCTCTGTGTGTTTCTTTCCGGGGTTGGGGACCACCACACTGCCCTTCACTCTCTCCCCACTCTCGCGTCGGAGCAGTAAGAGGGGACTCTGGTTGAGGGGCCTGAAGGCTTTTATTTGACTGGTCCATAGGGTGGGGGGTGCACCCCCTACAGGGCCACCTTGGGGTCCACTTCCCCGGGTCCCTGGCCTTTGGCCAACTCTGCCGCCTTCTTCTCCCGCCGCTTCTTCCGCTGGAGCAGCCTCCGCTCCCGCTCAAACTCCTTCATGCGCATCACATAGCTGGGGGAAAAGCACGAGAGGGGCTGTCAGGGTCCCTGGCCAGGACACGCCCCCCAAGCCCTGGGAAGCGGAGGGGCCGTCCCAGAGCACTGTGGGGGAGGCCTCTGAAGAAGACATGTCCGAGTGCCTGTGGCTTGGGTCTGGGGTCTGCCCACGCAGGTGGCAGGGCTTCCCACTGGAACCTGGGCTTGGCCACTCCCCTAGGTGGCTTCAGCCACCTGCCCTGTCCCCATCAAACAGGCCCCTAGAGAGCCCTCTCTGGGACTAAGGTGGGGCCCGGCTAGAAACCTCAGTGGCAGTTCAGGTCCCTGGCCTCTGGAGCCACATCCTGCCAGGGGCCAGGCCTGGGTGGGGTGCAGGCTGTGGGTGTTGGCGGGGGTGGGAGGGGGGCTTGGGCGGGCTGGGCATGTGGGGGGCTTGGGTGGGCCAGGGGTGTGGAAGGCTGGGGGTATGGGGTGTTGCGGGCCGGGGTGTTGGGGGCTGGTGTGGGGGTGCTCACTCGCGGTGCTCGCAGTAGTCCCAGTCGTGCCGCTCCTGCTTGCAGGCCAGGAAGTTGGGGAAGCTGTCACGCTTGCACTTGAGCAGCCGGATGAGGTGGTGGGCGCAGTAGTCCCGCAGCTGGA
CCTGGGAGGGCGGTGGAGGAGTGAGCCTTGCCCCTGCTGAGGCCGGGCCTGGGGGAAGGGGCTTGCGCTGTCCCTGGGGAGGACAGAGGGCCTTTGCTCCTGGGAGAGTCATGGGTGAGAAGTGGAGAGGAGGGGCAGAGAAGCAGGCTTGCCTTCCCATGCTTAATCCGCCACTAGCCGGGCTGGGGGCCTGCTGGCTGAGGGTAAAAGTGGAGCCCCAGACCCCTGCTGTCACTGCACTGGCAGGGCCCTCGGTGGTCCTTCCCTGACTGCAGGCAGAGGCCTGGACCCCAGCCCTTCCCCCTTCCCATAGCTACAGCCCAACCCCCAGCCTGCCATCCCCTTTAGTACCTCCCCATCCTGAGTCTGGGCTCCCCGCAGAGCTGACGTCCCTGCGCCTGTGCTTCCCCCAGGTGGAGCCCCACGCCACCATTGCGGAGATCAAGAACCTCTTCACTAAGACCCGTGAGTTCTAGTCCCGGCCACACTGCCCCTGCAACCCCTTTGACCAGGGACCTTAGGGTGGGAGGGATCCCATCCTGCACCCCTCTCCCAGGGGCCTGCAGAGATGCCCCAGTGTGGCCCAGGCTTCTGGGGCGTGACTGGGGCAGGCGCCTCCACGTGGCACTCCGCAGGAACGCCCTTGCTAGGCTCTGGGAAGGACAAGATCCTGCTTCTGCCCGCGCTCTTCTGGCTTGTGTCCTGAAACCGCACAAGCCTGAGGGTTTGCCCCCAGGTGGGAGGAGCTGTGGAGTCCTGGGGTCCTTGCACCCTGGGAACCCTGAGAAGCTGGCACAGTGGCTGGGCAGCGGACCGGCTGAGCCCTGCCAGGCTGTGGGCTGTAACTGCCCTGTTCTCCCCGCAGATCCGCAGTGGTACCCCGCCCGCCAGTCCCTCCGCCTGGACCCCAGTGAGTACAGCTGTCCACTCGGCCCGCCCCCTGGGCTCCTGGGTGGCAGTGGGAGAAGGCCCGGGTAGCCCCTGAGCCCTGGCCCGCCTCTCTGCAGAGGGCAAGTCCCTGAAGGATGAGGATGTTCTGCAGAAGCTGCCCGTGGGCACCACGGCCACACTGTACTTCCGGGACCTGGGGGCCCAGATCAGCTGGGTGACGGTGAGTCCTGACCCTACCCACGGCCTCTTTTCCCGTCAGCCACGTTGGGTGACTCATCTTGCCCCCCTCTACTCTCAGGTCTTCCTAACAGAGTACGCGGGGCCCCTTTTCATCTACCTGCTCTTCTACTTCCGAGTGCCCTTCATCTATGGCCACAAATATGACTTTACGTCCAGTCGGCATACAGTGGTGCAGTAAGTGGGGCAGGTGGGAGGAGGGTAGGGGAAGGCAGAAGACCTGCCGGACCAGCCCCAGCTGAGCCTGCTCCCCCCGACCAGCCTCGCCTGCATCTGTCACTCATTCCACTACATCAAGCGCCTGCTGGAGACGCTCTTCGTGCACCGCTTCTCCCATGGCACTATGCCTTTGCGCAACATCTTCAAGGTGAGAGCCCGTCCCCGCCTCACCCCTAAGCCCCGCCTTTCTGCCCCACCCCGCCCCGCCCCCACCGAGCCCCACCCCAAGGCCCTTCCTGTCTGCCACTACGCCCCAGCAGAGCCCTACCCCTAGGCCCCGCCTAACCTCCCCAGCCCCGCCCTCGCAGAGCCTCTAGACCCCGCCCGTCCTCCCCAGCCCCGCCCCCGTCGGGCCCCTAGGCCTGCCTATCCACCCTAGTCCCACCCCTAGGCACCGCCTATCCCCCCAGCCCCGCCCCTGCAGAGCCCCGCCCCAGTTTCACCCCTAGGCCCCTCCTGTCCACCACGCCCTCACAGAGCCCTGCCCTAGCCTCACCCCTTGGCCCCGCCTATCCTCCCCAGCCCCGCCCCAAGGCCCCTCCTGTCCTTTCCCACCATGCTCCCAGGCCCCTCGGGATGAGACATGGGCAGCATCTGCCTTGTCCGGTGCTGGCCCAAGTCCCATCCCTGCCCTGCTCCCTTTCAGAACTGCACCTACTACTGGGGCTTCGCCGCGTGGATGGCCTATTACATCAATCACCTTCTCTACACTCCCCCTAGTAAGTGGCCTCAGACCATCCTTCCCTCCCCCACGGTCCCCACCCAGCGGGTCCTCCCCTCATGGGCTCCCCTCCCTGCTTCCTCTTCAGCCTACGGAGCTCAGCAGGTGAAACTGGCGCTCGCCATCTTTGTGGTAAGGAGGCTGGGTGTGGGGACGGGGTCGGGGGAGTCTGGGCGGCCCTAGGCTGATCCTGCTTCTCTGACAGATCTGCCAGCTCGGCAACTTCTCCATCCACATGGCCCTGCGGGACCTGCGGCCCGCTGGTGAGTGCCTGCTGGGGGCAGGGGGACAGCTGGGCTGGGTGAGGGGGTCTGACTTTCTCCTTCTGTCCTGCCTGCCAGGGTCCAAGACGCGGAAGATCCCATACCCCACCAAGAACCCCTTCACGTGGCTCTTCCTGCTGGTGTCCTGCCCCAACTACACCTACGAGGTGAGGGGCTGCCTTACCCCTCTCTGCCCTGGGACTTGGGGTCCCATGTGGAGGGACCAGCCCCTAGGATGGGGCGCCTGGCTGGGCAGCTGCTTTTGCCGCCTGCACTGCGAGCATTGGGAGGTGGAGACCGCGGCCTCTCTGCTGTGGTGGCGGGGAGGCGTGTGCCGCTGGGCTTCCGCCGTATACAGCCCCGCCTCCGCTGGAATTGGGTTCCCATCCCTGACTCAGAAAGCAGGGGCGGCGGGAGGTGGCTGGCTGAGTCCAGGACAGCCACATACACGGGTTGCGAGGCTGCCCACGCTCACTCTCCGCCCCTGCCCACAGGTGGGGTCCTGGATCGGTTTCGCCATCATGACGCAGTGTCTCCCAGGTGAGCCTGCCGCCCTCCCTCGGCGGGGCCCTGCCCCTCCGGGCCGGCAGCCCCTCCCTGACGCCCGTTCTTTCCTGCAGTGGCCCTGTTCTCCCTGGTGGGCTTCACCCAGATGACCATCTGGGCCAAGGGCAAGCACCGCAGCTACCTGAAGGAGTTCCGGGACTACCCGCCCCTGCGCATGCCCATCATCCCCTTCCTGCTCTGAGCGCTCACCCCTGCTGAGGCTCAGCCCCTCAACCCGGTGGCATTCTGGGGGAGGAGTGGGGCCCACAGCTCTCCAGCACCCGGAATAAAGCCCGCCTGCCCCAGTCGGACTCGGGCTCTGTGTGTTTCTTTCCGGGGTTGGGGACCACCACACTGCCCTTCACTCTCTCCCCACTCTCGCGTCGGAGCAGTAAGAGGGGACTCTGGTTGAGGGGCCTGAAGGCTTTTATTTGACTGGTCCATAGGGTGGGGGGTGCACCCCCTACAGGGCCACCTTGGGGTCCACTTCCCCGGGTCCCTGGCCTTTGGCCAACTCTGCCGCCTTCTTCTCCCGCCGCTTCTTCCGCTGGAGCAGCCTCCGCTCCCGCTCAAACTCCTTCATGCGCATCACATAGCTGGGGGAAAAGCACGAGAGGGGCTGTCAGGGTCCCTGGCCAGGACACGCCCCCCAAGCCCTGGGAAGCGGAGGGGCCGTCCCAGAGCACTGTGGGGGAGGCCTCTGAAGAAGACATGTCCGAGTGCCTGTGGCTTGGGTCTGGGGTCTGCCCACGCAGGTGGCAGGGCTTCCCACTGGAACCTGGGCTTGGCCACTCCCCTAGGTGGCTTCAGCCACCTGCCCTGTCCCCATCAAACAGGCCCCTAGAGAGCCCTCTCTGGGACTAAGGTGGGGCCCGGCTAGAAACCTCAGTGGCAGTTCAGGTCCCTGGCCTCTGGAGCCACATCCTGCCAGGGGCCAGGCCTGGGTGGGGTGCAGGCTGTGGGTGTTGGCGGGGGTGGGAGGGGGGCTTGGGCGGGCTGGGCATGTGGGGGGCTTGGGTGGGCCAGGGGTGTGGAAGGCTGGGGGTATGGGGTGTTGCGGGCCGGGGTGTTGGGGGCTGGTGTGGGGGTGCTCACTCGCGGTGCTCGCAGTAGTCCCAGTCGTGCCGCTCCTGCTTGCAGGCCAGGAAGTTGGGGAAGCTGTCACGCTTGCACTTGAGCAGCCGGATGAGGTGGTGGGCGCAGTAGTCCCGCAGCTGGA
Task1_train_26747
Here is a genetic alteration in ADGRE2 (adhesion G protein-coupled receptor E2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Vibratory urticaria
CGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTAATTACAGGTCTGGGCGGGAGGGGCTGGGCGGTATGGCTTGCTGCCTGGGAGGATATTGATAAGATGTTCCTGTCATGGAAAACAAAAGGGTGGTTTGGCCCTTTCTCCCGCAGGATATGATGATGATGTCCCTTGGATCTACTCTAAGTGATGAGATAAGAAAGTCAGGTGGGCGAGGTGTGGTGGTTCCTGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACTTGGTGAAACCCCATCTCTAGTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTGAACCCAGAAGGTCAAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTAAAAAAAAAAAAAAGGCAGAGTTTACCCTGGGTGGGCCAGACCTAATCAGATGAGTCTTTATAAGCTCTGGGCTCTTCCTGGAGAATCAGATTCAAAACTTGTGACGGTTAATACTGGGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTATCAGGGTGTTGCCAAAGGAAATTAACATTTGAGTCAGTGGACTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACTGTCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCTGTGCTGGATGCTTCCTGCCCTTGAACATCAGACTCCAAGTTCTTCAGTTCTGGGACTCGGACTGGCTCTCCTTGCTCCTCAGCCTGCAGACGGCCTATCGTGGGACCTTGTGATCATGTGAGTTAATACCTAATAAACTCCCCTTTATATATATCTATATCTATCTATATATATAGATCTCTCTCTATATATCTCTATATATGTATATATTTGAGTCAGTGGGTTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAATTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATTCCATTAGTTCTGTCCCTCTAGAGAACCTCGACTAATACAAAGCTTAAGAGGGATTCTGCGTGAGGAAATTTTTTTCCTTGTCCTCCAGATAGGAATGCTAGAAGTTTGCCAGAGGGTCATGTGAGAAGGGATATGAGTGGCCTCTAGGAACTGAATGTGATGCCTTCCTGACAGCTAAGAAAGTGAGACTTCAGTCCTACAATCACAAGAAACTGAATTCTGCCAGCAACCAGGGAGCTTGGAGAAGGACCTCAAGTCTCAGATGAAATGGCAGCCCTGGGGGTGGGGTGACATGATGATTTCAGTCTTGTAAGACCCTGAGCAGAAAAGCCATCTTGCTATGCCAGCTTGCTGACCCAGAGCTGTGAGATAATGCATATATTTTTTTAAAAGGCTGCTACGTCTCTGGGGATTTGTTACACGGCAATAAATGCAGAGTGCATCCCCTCCTAAGGGTCTCACCTGCACATCGTAGTGGGCCATGAGGACGGCAAAGCTGCTCAGGTGGGTGCAACGGCAGATGGTGCTGGTGTCTCTGGTGCCTATTGTGCTGCAGCCTGTGGTGGCCCAGTGACCACATCCATTCTGGCCATGCTCCCAGAAGACACAGAGCACCTTCTGTCTCGGGATCACTGACTGCAGGAACAGAACACAGGTGTGGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATCGCTCGAACCTGGGAGGCGGAGACTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGCTGACACAGCGAGACTCTGTCTCAATAAAAAAAAGAACACAGGTGTGAGCTGGTGGGTCGGATGCTCAGAAATGCTTACCCAAAGCCGGCTTGGGAAGGACTGACTTTCCTGGGGAGATAATGTACCCATAACAGAGACCCCTGAGCCCCAGGGCTGAGCTGAGCAGCAAGGCTATGCCCGGACTCAGACTATTCACCCACCAACCAACTCCACCAGCACTCACACGGTGGGAGAAGGTGAAGGTAACTGGGGAGCTGAGGTTTTGGGTGTCGTTGTTGCTCAGAAAGGCAGAGATCACATCTGAGAGCAGGATGGGGGAGCCGTCCTGCAGCAAGCCCTGGTGTGTCTCATGCAGAAGCATCTGCTTCTCAGGTTCCAGGACCAGAGGGGCCTCAGCCAGCAACTTGCCCATCCCTGGAATGGAGACAAGGCCCACCACAGAAGGGCCTGCAGGGCGAGGCCAAGGTTGAATCTTGGAGTAGGTTGAATCTCTGGGTCCACACCAGAGTTCCTCTGCCCTGCACAGAACTTTCTACTCAGATGGGCTACCTTCCTTTGGCTTCACCCCTCCCACACTTTCCTTCAATCTTTAGTTCTATGTGTATCACATCCTGCAGGACAAGGCCACGGTTAATATCTCAGGGTCCCCAACAAGGTCCGTTCCTCCTCAGCTGGACTCTCCTCTTACAGCCCCACTCCAAACATCCCACACTTCCCTTTAATCTTTAAATTTCTTATTTTTCACATTCTTGGGCATCTTTTCCCACCATGAAGCTTCACTGACCACCTCCCCATCTCAGCCATTACCTGGGTCACCAGATTTCTGTGCCTGATTCCAGTCGAGCTGCATCACTGCCTGATTCTGTCTCAAGGTGACACTCCTGTCTACTTGCTTCTGCACCTCCAGGGACAATTCTATGAGTTGTGGGAATTACATAAGGGGGGTTAGGTTAGGAATCGTGCCTGCAGTGGTTGATATACTATGACTTAATATATATACTATATACATATATAGTCTGAAGTTACAAAATATCGGAAGAGAATAGTGTGAGCAACTGTATATCTACAAAGTAGGTAACCTAGATGAAATGGACACATTCCTAGTGACACACAAACCACTGAAATCAACTCAAGAAGAAATAGAAGATCTGAACAGACCTATAACAGATTAAATCAGTAATCAAAACCTCTCAAAACTAACAGCCCAGACCAGATGACTTCACTGGTGAGTTCTACCAATAGCTTAAGAAAGAATGAACATGAATCTTTTACCTTTTTAAAAATATGGAAGAGGAGGAAACACTATTTAAGTAATTTTATGAGTCTAATATTGCTCTGATAACAAAACCAGATGAAGACATCACAAGAAAATAAAATTATAGACCAATATTTCTTATGGACATAGATGCAAAAATTTTCAGCAAAAATGTTAGGAATACATTTTACGAAGGAGACTCAAGACTTATAGGAAAGTTTTTTGAGTATTTTTTTTTTTTTGAGACAAATTCTCACCTGTTGGTCAGGCTAGAGTGCAGTGGCATGATCATAGCTCACTGCAGTCTCCTGGGCTCAACCAATCCTTCCACCTCAGCCTCCCAAGTAGCTGGCACTACAGGTGCTCACTACCACAGCCAGCTAATTTTTAAATTTTTTGTGGAGATCATGTTTCAGTATATTTCCAAGGCT
CGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTAATTACAGGTCTGGGCGGGAGGGGCTGGGCGGTATGGCTTGCTGCCTGGGAGGATATTGATAAGATGTTCCTGTCATGGAAAACAAAAGGGTGGTTTGGCCCTTTCTCCCGCAGGATATGATGATGATGTCCCTTGGATCTACTCTAAGTGATGAGATAAGAAAGTCAGGTGGGCGAGGTGTGGTGGTTCCTGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACTTGAGGTAAGGAGTTCGAGACCAGCCTGGCCAACTTGGTGAAACCCCATCTCTAGTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCCCTTGAACCCAGAAGGTCAAGGCTGCAGTGAGCTATGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGACCCTGTCTAAAAAAAAAAAAAAGGCAGAGTTTACCCTGGGTGGGCCAGACCTAATCAGATGAGTCTTTATAAGCTCTGGGCTCTTCCTGGAGAATCAGATTCAAAACTTGTGACGGTTAATACTGGGTGTCAACTTGATTGGATTGAAGGATACAAAGTATTGATCCTGGGTGTGTCTATCAGGGTGTTGCCAAAGGAAATTAACATTTGAGTCAGTGGACTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACTGTCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAAAATGTGAAAAGAGAGACTGGCCTAGCCTCCCAGCCTACATCTTTCTCCTGTGCTGGATGCTTCCTGCCCTTGAACATCAGACTCCAAGTTCTTCAGTTCTGGGACTCGGACTGGCTCTCCTTGCTCCTCAGCCTGCAGACGGCCTATCGTGGGACCTTGTGATCATGTGAGTTAATACCTAATAAACTCCCCTTTATATATATCTATATCTATCTATATATATAGATCTCTCTCTATATATCTCTATATATGTATATATTTGAGTCAGTGGGTTGGGAAAGGCAGATCCACTCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCGTGGCTAGAATATAAGCAGGCAGAAATTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATTCCATTAGTTCTGTCCCTCTAGAGAACCTCGACTAATACAAAGCTTAAGAGGGATTCTGCGTGAGGAAATTTTTTTCCTTGTCCTCCAGATAGGAATGCTAGAAGTTTGCCAGAGGGTCATGTGAGAAGGGATATGAGTGGCCTCTAGGAACTGAATGTGATGCCTTCCTGACAGCTAAGAAAGTGAGACTTCAGTCCTACAATCACAAGAAACTGAATTCTGCCAGCAACCAGGGAGCTTGGAGAAGGACCTCAAGTCTCAGATGAAATGGCAGCCCTGGGGGTGGGGTGACATGATGATTTCAGTCTTGTAAGACCCTGAGCAGAAAAGCCATCTTGCTATGCCAGCTTGCTGACCCAGAGCTGTGAGATAATGCATATATTTTTTTAAAAGGCTGCTACGTCTCTGGGGATTTGTTACACGGCAATAAATGCAGAGTGCATCCCCTCCTAAGGGTCTCACCTGCACATCGTAGTGGGCCATGAGGACGGCAAAGCTGCTCAGGTGGGTGCAACGGCAGATGGTGCTGGTGTCTCTGGTGCCTATTGTGCTGCAGCCTGTGGTGGCCCAGTGACCATATCCATTCTGGCCATGCTCCCAGAAGACACAGAGCACCTTCTGTCTCGGGATCACTGACTGCAGGAACAGAACACAGGTGTGGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATCGCTCGAACCTGGGAGGCGGAGACTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGCTGACACAGCGAGACTCTGTCTCAATAAAAAAAAGAACACAGGTGTGAGCTGGTGGGTCGGATGCTCAGAAATGCTTACCCAAAGCCGGCTTGGGAAGGACTGACTTTCCTGGGGAGATAATGTACCCATAACAGAGACCCCTGAGCCCCAGGGCTGAGCTGAGCAGCAAGGCTATGCCCGGACTCAGACTATTCACCCACCAACCAACTCCACCAGCACTCACACGGTGGGAGAAGGTGAAGGTAACTGGGGAGCTGAGGTTTTGGGTGTCGTTGTTGCTCAGAAAGGCAGAGATCACATCTGAGAGCAGGATGGGGGAGCCGTCCTGCAGCAAGCCCTGGTGTGTCTCATGCAGAAGCATCTGCTTCTCAGGTTCCAGGACCAGAGGGGCCTCAGCCAGCAACTTGCCCATCCCTGGAATGGAGACAAGGCCCACCACAGAAGGGCCTGCAGGGCGAGGCCAAGGTTGAATCTTGGAGTAGGTTGAATCTCTGGGTCCACACCAGAGTTCCTCTGCCCTGCACAGAACTTTCTACTCAGATGGGCTACCTTCCTTTGGCTTCACCCCTCCCACACTTTCCTTCAATCTTTAGTTCTATGTGTATCACATCCTGCAGGACAAGGCCACGGTTAATATCTCAGGGTCCCCAACAAGGTCCGTTCCTCCTCAGCTGGACTCTCCTCTTACAGCCCCACTCCAAACATCCCACACTTCCCTTTAATCTTTAAATTTCTTATTTTTCACATTCTTGGGCATCTTTTCCCACCATGAAGCTTCACTGACCACCTCCCCATCTCAGCCATTACCTGGGTCACCAGATTTCTGTGCCTGATTCCAGTCGAGCTGCATCACTGCCTGATTCTGTCTCAAGGTGACACTCCTGTCTACTTGCTTCTGCACCTCCAGGGACAATTCTATGAGTTGTGGGAATTACATAAGGGGGGTTAGGTTAGGAATCGTGCCTGCAGTGGTTGATATACTATGACTTAATATATATACTATATACATATATAGTCTGAAGTTACAAAATATCGGAAGAGAATAGTGTGAGCAACTGTATATCTACAAAGTAGGTAACCTAGATGAAATGGACACATTCCTAGTGACACACAAACCACTGAAATCAACTCAAGAAGAAATAGAAGATCTGAACAGACCTATAACAGATTAAATCAGTAATCAAAACCTCTCAAAACTAACAGCCCAGACCAGATGACTTCACTGGTGAGTTCTACCAATAGCTTAAGAAAGAATGAACATGAATCTTTTACCTTTTTAAAAATATGGAAGAGGAGGAAACACTATTTAAGTAATTTTATGAGTCTAATATTGCTCTGATAACAAAACCAGATGAAGACATCACAAGAAAATAAAATTATAGACCAATATTTCTTATGGACATAGATGCAAAAATTTTCAGCAAAAATGTTAGGAATACATTTTACGAAGGAGACTCAAGACTTATAGGAAAGTTTTTTGAGTATTTTTTTTTTTTTGAGACAAATTCTCACCTGTTGGTCAGGCTAGAGTGCAGTGGCATGATCATAGCTCACTGCAGTCTCCTGGGCTCAACCAATCCTTCCACCTCAGCCTCCCAAGTAGCTGGCACTACAGGTGCTCACTACCACAGCCAGCTAATTTTTAAATTTTTTGTGGAGATCATGTTTCAGTATATTTCCAAGGCT
Task1_train_26748
Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Myofibromatosis, infantile, 2
CCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCACATCCCAATATCTGCAAAACCCAACCCTCCTCTCTGTATCAGAGACCCACCCCTCTCAGGTCTCTGCCTTCTCCTCAACAATAGCTACACCTCCCTTCTGGTACCTCTACCAGGCCACTAGCAGGATACTTCTATATTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTTGCCCCGGCTGGAGTGCAGTAGCACAATCTTGGCTCACTGCAACCTTCACTTCCTGAGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTAAAGGCATACACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGACGTCAAATGAACTGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCCTCCTATTTCTTTCTTCTTCTTCCTCTTCCTCCTCCTCCTCCCCCTCCCCCTCTTCCTTCTTCTTCCTCTTCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATCGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAAGTCAGGAGATCCAGACCATCCTGGCTAACACACTGAAACCCCGTCTCTTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGCCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGAAAGCCGAGATCGCGCCTCTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATGGGAGTCTTGCTATGTTGCCCAGGCTAGATTTGAATTCCTGGGCTCAAGTGATCCTCCAAGTAGCTGGGACTACAAGAATATATTGTGCCCGGCTTTATCTTCTATGTCTTTAAGAAGAAGAAAATTAGCCCGGTGTGGTGGTGGATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAAAAAACCCTACACATGTATTTAACCACTCTGCCAAGCCACTTAGCAACCTGCCTCCCCACAAGCCAGCACTAGACCTGGGCAATTCTACCCCAGAAGCACTAGCTCCATCTGGAGGCATTTTTTGCTTGTCACAGCCAGGAGGCGGTGCTCCTGACATCTGGTGGGTAAAGGCATTAAGTGAAATGAAACACACAAGACCTGGATCAACAGCATCTCTCCTCTCCCCAGCCACCACGGCTTTTCCAGGTGGGGTCACTCACCCGATCACCTCGGGGGCCAGCTCCCGACGGGCCCGGGGTTCGGAGCCAGGACTAGGCCGGTGGTAAGGGAAGACCATGGCCTGGCCGTGCGCGTCCAGGCGGAAGCGCAGCGAGGTGCGCAGGATGGCGCTGAGCCGCTGCAGAAAGTCGGCGCTGGAACGCAGTAGCTCCTCTGGCGGCAGCAGCACTGTGAGCACCAGCACGCCGCGGGCCAGCAGGGCCGGCACCTCGCTGGCACAATCCAGCCCATCCCAGCCGCACTCCTCCGTGTTGCAGCCCTGGTCGCAGCGGCCGTCGGCAAAGTGGTCGGCGCAGTACTTCTCGTACACCGGGCTGGTGGGGAAGGGTGAGGCAGAGAGGGGCGGAGTCAGGGGTCAGAGGAGACAATCCCCTTCCATGCATTCACACCGTAGAGTACAGAGACTCCAGACAAGGCTTGCACAGGGGACTGGAATATACGGACCCATGCCAGGCTTTCTGCAAATCTTGCCATTCACTGGATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAATGCAGTAGCATGATCTCTCAGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGTCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACTATGTTGGCCAGGCTGCTGTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATAAGTCACCGCACGCAGCCCTTGATAATATTTTTTTAAATTGATTGATTGAAATGGGGTCTTGCTCTGTTGCCCACGCCGGAGTGCAGTGGTGCAATCATAGCTCTCTGCAATCTCAAACTCCTGGACTCAAATTATCCTCCCTCTTCAGCCTCCCAAGTAGCTAGGACTACAAACCCACACCACACTCCCGGCCTCACTGGCTAACTATTAATTAATCAGTAAATACTAACTGACTACCATGTGTTGGGCACTGCTGCAGGCACAAGGATAAGGCCCGGCCACAATTCCTGGTCCACGTGCAGCTGGCATTCCACTGGGTGAAGACAGATAGTAAGGGAGATACATGAGCCAAATATACAGCATCTCCATTACTCATCAATAAAATAAAAATACAGGCTGGGTGCGGTGGCTCATGCCTCTAATTCCAGCACTTTGGGAGGCCAAGGTGTACGGATAACCTGAGGTCAGGAGTTCTAGGCCAGCCTGGCCAAAATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATGGGAGAGAAATCCTGTCTAAAAAAAAAAAAAAAAAAAATACATATATATATATATATATGTATATATATGTATATACACACACACACACACACACACACGCACGCACACACATAGTGCTGGATGGAATTAAATGCTAAGCAGAAAAATAAAGCAGAGGAAGGGCTGGGGGTGACCAGGGAGGTGCTCACTGAGAAGGTACCACCATTTCAGCAAAGACTTGAAGGAGGTGAGGGAGGAGCCATGTGGGGGAAGGGAACAGCCAGGCAGTAGGAACAGCTTGTGCAAAGGCCCTGATATGGGATCAAGCCTGGGGTATCTGGGAAACAGCAGAGAGGCCAGGGTGGCTGGAACAGAGTGAGTGAGGGGAAAGCAGAGAAGATGAGGATGTGGAGATTAAGGGGGTGGAGGGTTCCAAGCAGACAGAGAGGTACGCAGAGGACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGA
CCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCACATCCCAATATCTGCAAAACCCAACCCTCCTCTCTGTATCAGAGACCCACCCCTCTCAGGTCTCTGCCTTCTCCTCAACAATAGCTACACCTCCCTTCTGGTACCTCTACCAGGCCACTAGCAGGATACTTCTATATTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTTGCCCCGGCTGGAGTGCAGTAGCACAATCTTGGCTCACTGCAACCTTCACTTCCTGAGTTCAAGTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGACTAAAGGCATACACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGACGTCAAATGAACTGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCCCTCCTATTTCTTTCTTCTTCTTCCTCTTCCTCCTCCTCCTCCCCCTCCCCCTCTTCCTTCTTCTTCCTCTTCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATCGGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAAGTCAGGAGATCCAGACCATCCTGGCTAACACACTGAAACCCCGTCTCTTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGCCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGAAAGCCGAGATCGCGCCTCTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATGGGAGTCTTGCTATGTTGCCCAGGCTAGATTTGAATTCCTGGGCTCAAGTGATCCTCCAAGTAGCTGGGACTACAAGAATATATTGTGCCCGGCTTTATCTTCTATGTCTTTAAGAAGAAGAAAATTAGCCCGGTGTGGTGGTGGATGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAAAAAACCCTACACATGTATTTAACCACTCTGCCAAGCCACTTAGCAACCTGCCTCCCCACAAGCCAGCACTAGACCTGGGCAATTCTACCCCAGAAGCACTAGCTCCATCTGGAGGCATTTTTTGCTTGTCACAGCCAGGAGGCGGTGCTCCTGACATCTGGTGGGTAAAGGCATTAAGTGAAATGAAACACACAAGACCTGGATCAACAGCATCTCTCCTCTCCCCAGCCACCACGGCTTTTCCAGGTGGGGTCACTCACCCGATCACCTCGGGGGCCAGCTCCCGACGGGCCCGGGGTTCGGAGCCAGGACTAGGCCGGTGGTAAGGGAAGACCATGGCCTGGCCGTGCGCGTCCAGGCGGAAGCGCAGCGAGGTGCGCAGGATGGCGCTGAGCCGCTGCAGAAAGTCGGCGCTGGAACGCAGTAGCTCCTCTGGCGGCGGCAGCACTGTGAGCACCAGCACGCCGCGGGCCAGCAGGGCCGGCACCTCGCTGGCACAATCCAGCCCATCCCAGCCGCACTCCTCCGTGTTGCAGCCCTGGTCGCAGCGGCCGTCGGCAAAGTGGTCGGCGCAGTACTTCTCGTACACCGGGCTGGTGGGGAAGGGTGAGGCAGAGAGGGGCGGAGTCAGGGGTCAGAGGAGACAATCCCCTTCCATGCATTCACACCGTAGAGTACAGAGACTCCAGACAAGGCTTGCACAGGGGACTGGAATATACGGACCCATGCCAGGCTTTCTGCAAATCTTGCCATTCACTGGATAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGAATGCAGTAGCATGATCTCTCAGCTCACTGCAGCCTCCACCTCCCCGGTTCCAGCGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGTCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACTATGTTGGCCAGGCTGCTGTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATCACAGGCATAAGTCACCGCACGCAGCCCTTGATAATATTTTTTTAAATTGATTGATTGAAATGGGGTCTTGCTCTGTTGCCCACGCCGGAGTGCAGTGGTGCAATCATAGCTCTCTGCAATCTCAAACTCCTGGACTCAAATTATCCTCCCTCTTCAGCCTCCCAAGTAGCTAGGACTACAAACCCACACCACACTCCCGGCCTCACTGGCTAACTATTAATTAATCAGTAAATACTAACTGACTACCATGTGTTGGGCACTGCTGCAGGCACAAGGATAAGGCCCGGCCACAATTCCTGGTCCACGTGCAGCTGGCATTCCACTGGGTGAAGACAGATAGTAAGGGAGATACATGAGCCAAATATACAGCATCTCCATTACTCATCAATAAAATAAAAATACAGGCTGGGTGCGGTGGCTCATGCCTCTAATTCCAGCACTTTGGGAGGCCAAGGTGTACGGATAACCTGAGGTCAGGAGTTCTAGGCCAGCCTGGCCAAAATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAATGGGAGAGAAATCCTGTCTAAAAAAAAAAAAAAAAAAAATACATATATATATATATATATGTATATATATGTATATACACACACACACACACACACACACGCACGCACACACATAGTGCTGGATGGAATTAAATGCTAAGCAGAAAAATAAAGCAGAGGAAGGGCTGGGGGTGACCAGGGAGGTGCTCACTGAGAAGGTACCACCATTTCAGCAAAGACTTGAAGGAGGTGAGGGAGGAGCCATGTGGGGGAAGGGAACAGCCAGGCAGTAGGAACAGCTTGTGCAAAGGCCCTGATATGGGATCAAGCCTGGGGTATCTGGGAAACAGCAGAGAGGCCAGGGTGGCTGGAACAGAGTGAGTGAGGGGAAAGCAGAGAAGATGAGGATGTGGAGATTAAGGGGGTGGAGGGTTCCAAGCAGACAGAGAGGTACGCAGAGGACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGA
Task1_train_26749
Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
ACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGCCCAAGCTCAAACTCCTGACCTCAGGTGATCTGCCCTCCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCACTGTGCCCGGCCAATAAAAGGAATTTTTAGGCTAGATGTGGTGGCTCAGGCCCACAATCCCAGCACTTTGAGAGGCTAAGCTGGGTGGATTGCTTTGAGCTCAGGTGTTCAAGACTAGCCTGGACAACATGGCGAAACCCCATCTCTAAGAAAAAGCACAAAAGTTACCCGGGCGCGGTGGCTCACACCTGTGGTCCCAGCTCCTAGGGAGGCTGAGGTGTGAGGGTTACTTGAGCCCAGGAGGTAGAGATTGCACTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGTTCGTGAGCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAGCCAGGCGTGGTGGCAGGTACCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTC
ACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGCCCAAGCTCAAACTCCTGACCTCAGGTGATCTGCCCTCCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCACTGTGCCCGGCCAATAAAAGGAATTTTTAGGCTAGATGTGGTGGCTCAGGCCCACAATCCCAGCACTTTGAGAGGCTAAGCTGGGTGGATTGCTTTGAGCTCAGGTGTTCAAGACTAGCCTGGACAACATGGCGAAACCCCATCTCTAAGAAAAAGCACAAAAGTTACCCGGGCGCGGTGGCTCACACCTGTGGTCCCAGCTCCTAGGGAGGCTGAGGTGTGAGGGTTACTTGAGCCCAGGAGGTAGAGATTGCACTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAGCAAGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGAGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGTTCGTGAGCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAGCCAGGCGTGGTGGCAGGTACCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCAGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTC
Task1_train_26750
This alteration in NOTCH3 (notch receptor 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; not provided
GAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGT
GAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGCCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGT
Task1_train_26751
A mutation in NOTCH3 (notch receptor 3), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
GTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAG
GTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCAACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAG
Task1_train_26752
A change on Chromosome 19 affects gene NOTCH3 (notch receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
CACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGC
CACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCGCCGTCCCAGCCGCAGCCTGGGCTGTTGCACTCGCGGTCGCAGCGCTGGTCCCCGCGCTTGGCCTGGCAGGCGGCGCGCGGGCACCGCGGCTCCTCCGAGACCTCGGGTGCCGCGGCGGGCGCCTCGCAGCGCGGCCCGGTCCAGCCCTGCGCGCAAGCGCAGCGGAAGAAGGGCGCGAGCGGCGCGGGGCGGCAGGAGCCCCCGTGGAGACAGGGGGCGGCCGCGCAGCTGGCGTTGCTGGCCCCCGGCGGCGACCCCGGGAAGCTGCGGCAGGAGGGTCCCGACAACCCTGGGGGGCAGGCGCAGCGCGGCCCGCGGGGCGTCTGCTGGCATGGGACGCCCACCGGGCACTGCAGCTCCCGGCAGGAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCGTGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGC
Task1_train_26753
This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
GAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGAC
GAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACAGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGAC
Task1_train_26754
This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
AGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACT
AGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACGGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACT
Task1_train_26755
Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
AGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGA
AGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAGCTGCCACTACGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTGATCCTCCCGCCTCGGCCTCCCAATGTGCTGGGATTACAGGTGTGAGCTACCACACCCGGCGGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACACGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGA
Task1_train_26756
A change on Chromosome 19 affects gene NOTCH3 (notch receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGA
GGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCATCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGA
Task1_train_26757
A mutation on Chromosome 19 affecting NOTCH3 (notch receptor 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
CCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAG
CCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGAAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAG
Task1_train_26758
This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
AGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAC
AGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCAACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAC
Task1_train_26759
Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATG
CCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGATAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATG
Task1_train_26760
Gene NOTCH3 (notch receptor 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
ACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGC
ACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCAGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGC
Task1_train_26761
This sequence variant lies in NOTCH3 (notch receptor 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; NOTCH3-related disorder
CCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTC
CCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGTACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTC
Task1_train_26762
This mutation occurs in NOTCH3 (notch receptor 3) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; not provided
ACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAG
ACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCCCTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAG
Task1_train_26763
A genomic change on Chromosome 19 affects NOTCH3 (notch receptor 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGC
GAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGTAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGC
Task1_train_26764
An alteration has been detected in NOTCH3 (notch receptor 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
CTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGCAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACGCAGTGAGACCCCATCTCTACAGAATTAAAATAAAAATATTAGCTAGGCATGTAGTGAGTGCCTGTAATCCTAGCTACTCAGGAGGTTAAGACAGGAGGAATGCCTCAGCCCAGGAGTTCGAGACTGCACTGAGCCAA
CTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGCTGGCAGGGCTGGGAGGCACACTCGTCCACGTCGTCCTCACAGTTATCACCATTGTAGCCAGGAAGACACTTCAGTGGGGTAAGAGAGGGACCCACTCAGCTTAGTGGGACACAGACCCACCTGGACATACCCATGAAGACGCAAAGAACCCCAGCACAAAAGGACACACACAGATGTTCAGCGCACTACCAGTAGGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCACTATGAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTACTCCCAGCTATAATGAGAGGCTGAAGCAGAAGAATCACCTGAACCCAGGAGGCAAAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCGTCTGGGTGACAGAGTGAGAACCTGTCTCAAAAAAACAAACAAATAAAAAAACACCCCAGATCTACCCAGAGTGACACCCACAGATACACCAAGAGTCACAAAAGCAAAAACTCAGACATATCTAGAGACATACCCATACCAAGCCACACAGAAATGTGTGCCCAGACGCACCCAAGCATGCCCACCTCCTCTTCCCTCTCCTGGGGAGCGCCCCCTTACCTCACACATGTAGCCCCCCATATAGCCACGGCAGGTCCCCCCATGCTGGCAGGGCTGGGCCAAGCAGGGGTCCACCTCCTGCTCACAGTGGCTACCAGTACGGCCCTCTGGGCACACGCAGTAGTGGGAGCTGTCTTCATCCACACACTGCCCACCCGCCTGACACAGCTGCTCCAGCCGCACCCCTGCAAAGAGGAGAGTGGCACAGGAACAGAGGTAACCCCATACATCCCCCTTCTGCCTCCATCACACAGATCATTCAACATCCTTGGTGGAATGAGTCCCCAGGATCGCACCCACACTCCATCAGGTTGTCACACATCCCCCCAGCAGGCAAGGTCTCATCACTGACATACACACACATGCCTTCAACGCTCACAGCAGCTCGGTCACACCCTGTAGCACACACACCATCCCTGCTGTCTCACAGTGACAGACACACACCATCCCGGCCAGTTGTCACATGCTCACACACCCACACCACTCAGCCACACACCCCATCATGCCCCATAGGCTCTGTGGCACCCCCATTCGGCTCACACTAGCAGGAGGTACGTGCATGAGCCCCTTCCCAAGGCCCCACACGCCCGCCCACATGCTCCCACTCACCGATCTGGGCTGCGGCCTCCCTGCAGGGCAAGCTTCGGATGTCACAGAGGCGTCCGCTCCATCCAGGGGGACAAAGGCAATAGGCCCCAGTCTGGACGCAGCGACCCCCGTTTTGACAAGGCTGGCGGCTGCACCAATCCACCAGCGTCTGGAGGGGAAGCACTCAGAGTCAGTACTGTGGGGTGGGGGGTAGTCTGGGAGAAACTGTGCCCCGACTTGGCTTCTCCCTCCTAGGATCCCAGGCAGGCTCCTCCCCCAGGTCCCCAGTAACTCCACCCACCTGGCACTGCGGGCCCGTGAAGCTCTCGAGGCAGGTGCAGCGGAAGCCAGGGTGGGCGGCGCTGCAGACGCCCCCGTGTAGGCAGGGCCGCGAGAGGCAGGGGTCTGCCTCATGTTGGCAGTGGGCTCCTGTGTAGCCGGGACGGCACAGGCAGCTGAACGAGTTCACGCCGTCCACACAGGTCCCGCCATTGAAGAAGGAGCTGGAGCGGAAGGAGTGGGAGGGAGGATCAGGCTCCGCCCCCTCACAGGCCCTGCCCTCCTTCCTGAGTCCCGCTGTTAGCGCTGGGGACGTCCCACTCCCTGACCCTTATCTCGGCAAGAAGCTGCAGCCCCAGCAGAAGCCAATCAGGTCCCTTAGCTCCAATTCACCAGGGACTTCAGCCCTAAGGTGAGAGCCACCTGGAAGCCATGCCCTCTCAGGCACCAGAGACTCCAAGGTGAGCTCCAAACAGACGCCCTGCTCCTTCCCTGGCCCTGCCCCATCAGTCATCAGAGTCCGCAGTGGGTACCAAGCTGAGGACTCCCCCAAGTCGTTGCTGTCCCCACTTCGTCCCAGGTCCCAGGCCCCATCCCAAGCCAGAGTCCCTGCTCTCCAAGCAGAGGCCCCGCCCACCTGGGGCTGCAGTCGGGCAGGTCCTGTTCGCAGTGGAAGCCTCCGTAGCCTGGCGGGCAGGTGCAGGTGAAGGAGGCCACGTGGTCGGTACAGGTGCCCGGGCCGCAGGGGTTGCTCAGGCACTCATCCACATCGCGGGCGCATCGTGGGCCGGCGAAACCAGGGAGGCAGGAGCAGGAAAAGGAGCCCACGCCGTCTTGGCACGAGCCACCGTTCAGGCATGGGTCTGCGGACAGGAGGAAGGCGGTCTGGTCACCTACCTTGCCCCCATTAGCCCAGTCTGACTGGGATATGCCTTGGATTGAGAAGAATTCAGGAGGAAACCAGGTTCAACTGGGATGGGGTGCATTTGGTCAGAGGAATCTAAATCCATCCCCTTCTGTGGCCTCGTCCCCTCCTTTATCTGGAAACCTCACCTATGTGGCAAGGGCAGGATGTTGGGAAAACCAAAAGGTCCCTTTAAGCTGCCAAGCAAACGCTGCTAATTGTGCCTGATCTAATTCCTGTGCTTGGAACAGGACAAGGACAGTGGCCATTAGCCACATGTGGCTACTGAGTCCTTGAAATTGTGACTAAATGGAGATGTGCTATAAATGTAAAATACATACTGGGTTTCAGATTTTGAAGACTTGGTATGAAAAAAAAAATAGGCTGGGCGTGGTGGCACACACTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGCTCAGGAGTTCGAGACCAACCTGGGCAACATGGCAAGACCCCATTTCTATAAAAAATACAAAAATTAGCTGGGCATGATGGTGCACACCTGTAGTCCCAGCTAGTGGGGAGGCTGAGACGGGAGGATCACTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGTCATGATCGCACCACTGCACTCCAGTCTGGGCGACAGAGTGAGAACTTGTCTCAAAAAAAAAAAAGGAAACAATGTAAAATATCTCATTAACAATTTTATACTGGTTACATGTTGAAATGATATGTTAATATATTGGGTTAAATAGATTATATACATTTATTTATTTATTTATTTATTTACTTTTATTTTTATTTTTATTTTTTTTGAGATGGGGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGACGGGGCTTCTCCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACTGCGCCCAGCCGATTATATACATTCAATAAATTAAATTTAAATATATTAAATTTGGTCAGGCACAGTGGCAGCAGTCTGAGAGTCCAAGGCAGGAGGATGGCTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACGCAGTGAGACCCCATCTCTACAGAATTAAAATAAAAATATTAGCTAGGCATGTAGTGAGTGCCTGTAATCCTAGCTACTCAGGAGGTTAAGACAGGAGGAATGCCTCAGCCCAGGAGTTCGAGACTGCACTGAGCCAA
Task1_train_26765
Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
ACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGA
ACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCGGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGA
Task1_train_26766
The variant affects gene NOTCH3 (notch receptor 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
AAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACG
AAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGTAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACG
Task1_train_26767
Consider this mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
GGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGG
GGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACAATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGG
Task1_train_26768
Gene NOTCH3 (notch receptor 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; not provided
ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGG
ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGGAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGG
Task1_train_26769
Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGG
ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAGGAGCCAGGCGGGCAGAGGCAGCGGAAGCCATTTTCCCCATCCACACAGGAACCTCCCTCGCCGCATGGGCTGGAAGCACACTCATTGATCTCCACGTTACAAAGGGGCCCTGGGGAGTACACAAGCAATCTCATCTCAGAACAAAGTCAGCAGGGACAACCAGGGAGGGACGACGTGACCCCACTTAGCACACCCACACCCCCGAGCAATGACCTCTTTTTCATAACGCATCAGCTCTTGTGCAGATTAGGACACCCGCCTCCTCAACCAAGAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGTAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGG
Task1_train_26770
Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
GAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACT
GAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACGGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACT
Task1_train_26771
The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
CTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATT
CTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCAGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATT
Task1_train_26772
Located on Chromosome 19, this mutation impacts NOTCH3 (notch receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
ACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTT
ACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCCCTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTT
Task1_train_26773
Consider this mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
CAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTC
CAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACCCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTC
Task1_train_26774
The gene NOTCH3 (notch receptor 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
TTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAA
TTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGAAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAA
Task1_train_26775
Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; not provided
CTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCA
CTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCCCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCA
Task1_train_26776
This mutation is located in gene NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
TTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCAC
TTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGTATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCAC
Task1_train_26777
Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
TCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACA
TCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCCTTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACA
Task1_train_26778
Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
CTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAA
CTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACACGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAA
Task1_train_26779
Here is a mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCT
TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGAAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCT
Task1_train_26780
The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCT
TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGTAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCT
Task1_train_26781
This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
ATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTAC
ATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCAACGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACTTGCCTTGGCCTCCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTGCAGAATAATCTCGAAACAACCTTATGCCAATGAGACAGCACAGACTCAGGGCAAAGCACGGACAACCTCGTTGGACAAGAGTCTGCAAAGATACGGGCAAAACAGGCCCACAGAGACGAGTGACTTCACCCTCGATCTAAGGACCCCCTCTCATGGCAGCCACTTGCCCACCTGTGAAGCCAGGTTGGCAGACACAGTCGTAGCGGTTGATGCCATCACGGCAGACTCCAAAGGTGCAGGGGTTGCTGGCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACATAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTAC
Task1_train_26782
A variant has been detected on Chromosome 19 in NOTCH3 (notch receptor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; not provided
GCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATT
GCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATAAAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATT
Task1_train_26783
Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTT
CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACGGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTT
Task1_train_26784
This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; not provided
CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTT
CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACTGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTT
Task1_train_26785
This mutation is located in gene NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
TTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCA
TTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGAACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCA
Task1_train_26786
A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
TGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACT
TGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGATACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACT
Task1_train_26787
Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTG
GGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACGCTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTG
Task1_train_26788
This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
AGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTT
AGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCATAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTT
Task1_train_26789
A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTC
GATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACTGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTC
Task1_train_26790
Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
AAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTG
AAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGCAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTG
Task1_train_26791
This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
CTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGC
CTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACAACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGC
Task1_train_26792
Chromosome 19 houses a mutation in gene NOTCH3 (notch receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
CCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTG
CCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCCCTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTG
Task1_train_26793
This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTA
TGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGCAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTA
Task1_train_26794
The gene NOTCH3 (notch receptor 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
AGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTT
AGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCTGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTT
Task1_train_26795
Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
GGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTG
GGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATACAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTG
Task1_train_26796
A variant affecting Chromosome 19, within the gene NOTCH3 (notch receptor 3), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
TGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCC
TGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGATAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCC
Task1_train_26797
A variant on Chromosome 19 in gene NOTCH3 (notch receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
AGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCCGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATG
AGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGATGGGAGCACATGGCAGGTGCCAGGGGAAGGTATTGGGCCCTCCCCATTCAGTTACAGGCACCCTGTGCCCAGCCCAACACTTTGGCTCCACACGTAGCCTTATGTCAGTCTATATGCATTATTGGCTCCACCCCCCAACTCTGTCACTGGGTCCTGCCTTGCTACAACCCCGCCCCCAAGCTCTCCCCAAGTCTGTTATTGGCCCTGTCGCCCACAAGCCCCGCCTCCTGATTCTTGTCGGACTGTCATTGGCCCGCCTCACCCTCGGCACAGCGGCACTCGTAGCCATCGGGCTGGTCCACGCATTTGGCGCCATTCCTGCAGGGCGTGCTGGCGCATTCGTCCACGTCCAGCTGACACGTGGAGCCGCTGAAGCCTGGGGTGGGGAGTGGGATGAGCAGAGGCCCAGAAAGGGTGAGAGCAGTACACCCCTCTCCAGCCCCGCCTTGTTTGGGTGGAAAAACCCATTTACTTGGATTTAAATTAACTTCAATGTTTCATAACATATGGTTTCTATTGTAAGTTATCCGCTAACGTGGTTTTACAGGTTCCCACCCTGGAGTTTTTGCCCCTTCCCAGACATGTCTTTTCGGGCTCCCTCTCCTGAGGTCCTCACCCGAGGGGCAGGTGCAGCTGAAGCCATTGACTCGGTCCTTGCAGACCCCACCGTTGACACAGGGGCTACTCTGACACTCGTCAATGTCCACCTCGCAATAGGTTCCTGTGAAGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGTGCAAGGAAGGAGGTACTTCCCTTCCTACTCATCGACAAATCCCCCGAGCCTTCGTCCCCACCTCTACACTCCCAGCCCAACCTTAATTTTCAGCCACAGGCTGGACTGTCACCCAGCCGTGGTCCCAACTGGCCCAAGGCTCATGGGTGTCCGCAGAGGCCTTGCCTTCAAACCCCTCCTCCTCTCCCCAGTCCTCAGACTAAGCCCTTTCCCCAGTCCCCAGCCCCCAGCCCCAGGGCCCCCCATAGCCTTTGCCCAGGCTTACTGCAAGCTTGTCTGCAGGCTTCACCTTGACCTCACAGCAGCCCCGACTCTGCCTCTCTATCCCCAACCCCTTCCCGAGTGGGTCCTAAGGCCAAGAATACTCCCAGCCCACCTGAGGTTCTACTGACTCCATTTGACCAAGCCCCCAGAATCACACAGTATTCCCTTCTGGTCCTGACCCCACCTCCTTCCAGGCTTCAGTCTCTAAGGGTCCCACTCCAAACCCACTTACACCCCATTCTGCTCAGCTCCCCATCCGCGGGCTTCTCTGTCCCCGCCCCCTGCCTCAGGACCCGCCCAGGCCACGCCCACCACCCACCTGCCATACAGATACAGGTGAACTGGCCTATGCGGTCGAGGCACGTGGCCTGGTTTCGGCAGGGCCCCGACAGACACTCGTTGACATCGGTCTCACAGCGAGGTCCAGTGTAGCCACGACCGCACTGGCACAGGAAGGAGCCCTGCGTGTTCACGCACCTGCCCAAGTGCTCGCAGGGGTTGGCGCCTGCCGGATGGAGTGCGATCGGTGTGGGCGTGGCTGGCCGGGACCCCCTCCTCTCCCCTCTTTCCCAGCCCATTCACAGACGATGGAGCTCCCCTCACCGATAGAGCACTCGTCCACATCCTGGTCACATGCCCCACCCGTGAAGCCGGGAGGACAGGTGCAAATGGCCCGGCAGTTCACCGGATTTGTGTCACAGATAGCATCCTCGTGGCAGGGGTTGCTGACACAGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATG
Task1_train_26798
A mutation on Chromosome 19 affecting NOTCH3 (notch receptor 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
AGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGTAGAAAGAAGCCACGCGGTCATGGCAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAAC
AGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGCAGAAAGAAGCCACGCGGTCATGGCAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAAC
Task1_train_26799
With a mutation on Chromosome 19 in gene NOTCH3 (notch receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; not provided
GGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGTAGAAAGAAGCCACGCGGTCATGGCAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAACGGCTCACAACTGTAATCCCAACAC
GGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTGTTTTTATTAAACCTAAACAGTATTTAGTAGCTGCTTTTTTAATCCATTTATTATGAGAACTATCAAACATACAGAAAAGTTGACCATTCATATACCCACCACCTAGATTCAACTATTGTTAGCTTAATCTACCAATCTTCTTTTCTAAACCATTTAAAAATAAATTGCAGACCGGGCACAGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCAAGGTGAGTGCATCGCTTGAGTTCAAGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCCGTCTCTACAAAAAATACAAAGCTTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTTGGGGGACTGAGGTGGGAGGATCACTTGAGCCCAGGAAGTCGAGGCTGCAGTGAGCTGAGATCATGCCACTGTACTCCAGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAATAAAATAAAATAAATTGCAAACATCCACATATTGTTTTAAAACCTTTTGACTCTTCTGATTACAAAAGGGTCCTACACTCCAGCCTTTGCTTCTGTAATACCCTCTGCCATGTATGCCCTCTTTCTATATCCACGTTCCCCTCCTAAACATGTTCTCTGATCTTTGCCACTTCCAAAGGTAACTCCCAGGAGTTCCCCATTCCAATGGCTTCTGCCCTGAGCCATGCATCAGTGCAATGTCAGCCTCCTCCCAAGCCTCTCCCAGGCTTACACTTCCCCACTAAAGCTGCCTCCAGCATCATCTTTTTTTCTCTCTCTTTTTTGTTATACACGGTCTTACACTGTCTCCCAGGCTGGAACGCAGTGGCTCAGTCTCAGCTCACTGCAACCTCCACCTTCTGGGCTCAAGCCATCCTTCAACCTTAGCATCCAGAGTAGCTGGGACTACAGGCATGCGCTACCATGCCCAGCTAATTTTTTGTATTTTTGGTAGAGATAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCAAACTGCTGAGCTCAAGCAATCTACCCGCCTGGGCCTCCCAATGTGTTGGGGTTACAGGCGTGAGCCACCACACCCAGCCTACCAAGTTTTTGTAGAGATGACAAAAACTCACTATGTTGTCCAGGCTGGTCTCAAAGTCCTGGGCCCAAGCGATCCTCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCTAGCATAATCTTTTTTTTATTTTTTAAATTTGAGAAGGAGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGCAATCTTGGCTCACTGCAATCTCCACCTCCTGGGTTCAAGCTACTCTCGTGCCTTAGCCTCCTGAGAGACTTGGATTACAGGTGTGCACCACCACGCGCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCCCAGTGATCCGCCCGCCTGGGCCTCCCAAAGTGCTATGATTACAGGCATGAGCCACTGTGCCCAGCCTAGCATAATCTTTCTAACACTCAAGTCAGACTTCTTATTTGCCCTCACTAAAAACCATCCATGGCTCCCTGCAGAGAAAACGGCCACTCACCAGTCTTGCCCATGGGGCAGGCACAGTAGAAAGAAGCCACGCGGTCATGGTAGGTGGCCCCATGGAAGCACACGGCTGTGGCACAGTCATCGATATTCTGACTGCAGCTCTCGCCTGTCCAGCCATTGACACACACGCAGCTGTGGCCACCCAGCGTGTTGAAGCAGGTACCCCCATTGTGGCAGGCGTTGGGCTGCAGCTGACACTCATCCACGTCCTCCGTGCAGAACTGGCCTGTGGCACACAGATGCAGCAGTCCAGCCACCTGGCGCATGTCCACCCGAGGCCTGCCTCCCCGCTCCCTCTGGCCGCAGTGCCCACCTGTCCACTCAGGAGGGCACTGGCAGTTATAGGTGTTGACGCCATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACGTTCACTTCACAATTCTGACCCTCAAACCCTAGCAGGGAAGGGGGCAAGGATGGTCACCGCCGGGCTGGCCTGCTGTCCCCACGCCCACCCCTCTGACTCTCCTGAGTAGGGCTCACTCACCAGGAAGACAGGCACAGTCGTAAGTGAGGTCGCCACTCTGCCTGCAGGTGCCCCCGTTACGGCATGGTGAGGGTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCACCATGGCGGCAGGGCTCACCCACCCGGCACTCATCCACGTCGCTTCGGCAGCTGCGGCCCTGGTAGCCAGGTGGGCAGGAGCAGAGGAAGCGTCCATCGGGCCCCACTGAGCAGCGGGCACCGTGGGCACAAGGGCTGCTGAGGCAGGGATCTGGCAGGGAGCAGTCAGGGCCTGGAGGGACCAGGACAGGGTGAGTTTAGGACTGACCACACCCCCGACTACCTCCCCTCCAGACTCTTCCCCTCTCACCTCGGAAGCCACGGGGGCACCGGCATGAGAATCGGGCGGTGCCAGCCACCACTGAACTCTGGCAGACACCACGGCCAGCACAGGGGCCTGAGTGACAGGGGTCCTCCAGCTGACACCGCTCACCCACCCAGCCAGGCGGGCACCTGTGGGCAGAGATGGCTTGGTTGGGCAGCACAGGGCAGGATGGCCCCAGACACAAAGATACACACAAGACAGGCAAGAAACACGCAGGGAAACAGAGCAGCAAACACACATTTGCTGGGAGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGCGGCGGGCAGATCACTTGGGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGTAACCCCGTCTCTACTAAAAGTACGAAACTTTGCTGGGCATAGTGGTGCGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTGCAGCCTGGGTGACAGAGTAAGACTCGGTCTCAAAGAAACAAAACAAAACAAAACACACATTCATTCATGCAACGAATATTTACTGAGTACCTACTACGTTCTGAGCAATACAAATACAGCAACAAACACAATGAAAGGGGTCCCTATCCCTCTGGATCCTTGCAGCCAGGTCCAGGCAAGGAGAACATATACGAATAACAAATTAATATACAACATGCTGGCAGGGGGCGGTGAAAGCCATCAGAACCATGAAGGATGTAGTCAGTTGGGTCACAGCCCCTGAAAAGATGACATCCATGTCCCAGAACCTGTGACTAGGACCTTACTTTTTTTTTAAATGGCTCTTTGCAGATGTAATTTTTTTTTTTTAAGAGACGGAGTCTTGCTCTGTCACCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCGGGGTTCAAGCAATTCTTTGTCTCAGCCTCCTGCGTAGCTGGGAGTACAGGCACACGCCACCAGGCCTGGCTATGCAGATGTAATTAAATGAGAGATGTCAAGATGAGATTATTCTGAATTATCCACCTGGGCCCTAAATTCAGTGACAAGTGTTCATACAAGAGAACGGCTCACAACTGTAATCCCAACAC