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_34200
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
CCACCTCAGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCACACTCAGCTGGTTTGTTCTTATATTAATGTGTAGTTCTTTATGTATTTTGTATACAAATTATGTGTTGCAAAAAAATATATTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGGGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAATTAGCCAGGCATGGTGGTGCGTGACTGTAATCCCAGCTACAAGGGAGGCTGACGCAGG...
CCACCTCAGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCACACTCAGCTGGTTTGTTCTTATATTAATGTGTAGTTCTTTATGTATTTTGTATACAAATTATGTGTTGCAAAAAAATATATTGGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGGGGATCACCTGAGGTCAGGAGCTCAAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAATTAGCCAGGCATGGTGGTGCGTGACTGTAATCCCAGCTACAAGGGAGGCTGACGCAGG...
Task1_train_34201
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
TAAAAATACAAAATTAGCCAGGCATGGTGGTGCGTGACTGTAATCCCAGCTACAAGGGAGGCTGACGCAGGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAAAAGAGTGAAACTGTCTCAAAAAAAAAAAAAAAAAGTCTATTTGTAACCTGTATTTTCACTTTCTTTTTGGTGCCTTTGGACAAAGTTATAATTAATGTAGTTGAATTTATGAATCTTTCTAGTTTTACAATTAGTGCTGTATCTCATTTAAGTGATCCTTCCCTATCCCAAGGTCA...
TAAAAATACAAAATTAGCCAGGCATGGTGGTGCGTGACTGTAATCCCAGCTACAAGGGAGGCTGACGCAGGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAAAAGAGTGAAACTGTCTCAAAAAAAAAAAAAAAAAGTCTATTTGTAACCTGTATTTTCACTTTCTTTTTGGTGCCTTTGGACAAAGTTATAATTAATGTAGTTGAATTTATGAATCTTTCTAGTTTTACAATTAGTGCTGTATCTCATTTAAGTGATCCTTCCCTATCCCAAGGTCA...
Task1_train_34202
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
ATGAATACCCAAGAAGACCCAAAACAAAAATGCAGAAAGCTTTCCAGATGCTTTGGTCTCTGATCCAAGAATCTTATTACAAGGAGAGAGTAATCTGACCTAACAGACAGTGCCAGAGTGTGAGAGACATGGCTGTGTTTACTACAGATGTTTCTTTCAAAATCACCTTATACAGGCTAATGTCATTACACTGAATGTGAATCTTCATTAGACAAACCAAGGAAAAGTGTAACAAAATATTTTAATAGACACATCTGGGGAAAATAATATATAGTGATATGAATGTGTAAGGGTAAGACAATTCTAAAAAGTTTTAAACA...
ATGAATACCCAAGAAGACCCAAAACAAAAATGCAGAAAGCTTTCCAGATGCTTTGGTCTCTGATCCAAGAATCTTATTACAAGGAGAGAGTAATCTGACCTAACAGACAGTGCCAGAGTGTGAGAGACATGGCTGTGTTTACTACAGATGTTTCTTTCAAAATCACCTTATACAGGCTAATGTCATTACACTGAATGTGAATCTTCATTAGACAAACCAAGGAAAAGTGTAACAAAATATTTTAATAGACACATCTGGGGAAAATAATATATAGTGATATGAATGTGTAAGGGTAAGACAATTCTAAAAAGTTTTAAACA...
Task1_train_34203
With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
AGACAGTTTTCTGAACTAAGAAGTGAAGCTAGCCTGCCCACACACGGGGTATCCACTAGCCCCTTAGGAGCAGAGAGGGCACCGTAGCAAGCAGCTGGCGGCACTGTGCCTCTCTTGCGCTCCCTGGGCAGAGAGGGAGAGGCTGAGTGATGAGGCTCACTTCATACTGGGTGAGCAGAATGAAGACTGTGAAGTCACAGAGGAAGTGGAATGCTACAACTGGCTGCCGGGGCAGAGGAAAGGTGTCACCCAGGCAGGTTCAGGGCTTTCTGGCTATAAAAGGGAGCCTCTGGGATCAGCAGGTCATATCTGGTGCCCAT...
AGACAGTTTTCTGAACTAAGAAGTGAAGCTAGCCTGCCCACACACGGGGTATCCACTAGCCCCTTAGGAGCAGAGAGGGCACCGTAGCAAGCAGCTGGCGGCACTGTGCCTCTCTTGCGCTCCCTGGGCAGAGAGGGAGAGGCTGAGTGATGAGGCTCACTTCATACTGGGTGAGCAGAATGAAGACTGTGAAGTCACAGAGGAAGTGGAATGCTACAACTGGCTGCCGGGGCAGAGGAAAGGTGTCACCCAGGCAGGTTCAGGGCTTTCTGGCTATAAAAGGGAGCCTCTGGGATCAGCAGGTCATATCTGGTGCCCAT...
Task1_train_34204
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
CTCTACTAAAAATACAAAAATTAGCCAGACATGGTAGTGCAGGCCTATAGTCCTGGCTACTCAGGAGGGTGAGGCACGAGAATCACTGGAACCCAAGAGGTGGAGGTTGCAGTGAACTGAGATTACAGTACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAGACTTCAGTGGAGGAAGTCATTGCAGATGTGGTATGCAGATGTGGTAGAAATAGCAAGAGAACCAGAATGAGAAATGGAGCCTGATGATGTGACTACATTGGTACAATATCCTGATAAAACTTGAATGGATGAGAAGTTGTTTC...
CTCTACTAAAAATACAAAAATTAGCCAGACATGGTAGTGCAGGCCTATAGTCCTGGCTACTCAGGAGGGTGAGGCACGAGAATCACTGGAACCCAAGAGGTGGAGGTTGCAGTGAACTGAGATTACAGTACACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAGACTTCAGTGGAGGAAGTCATTGCAGATGTGGTATGCAGATGTGGTAGAAATAGCAAGAGAACCAGAATGAGAAATGGAGCCTGATGATGTGACTACATTGGTACAATATCCTGATAAAACTTGAATGGATGAGAAGTTGTTTC...
Task1_train_34205
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
GCTATGCGATGGGCAGAAAGGCAGTGTGTGGAGGTGCCCATACTTTCCATTTGGGGCACAATAGGTTCGGATTCCCTTCACATAGCCCTCTCCCCCAGGAGTGGCCTCCACAGCAGCCACAGAGCAGGGGACAACAGCAAAGTCACAGGCACAGCCTGCCACTGCCAGACACCTGCTGAGGTGGGCTCCCAGGCCGGCCAACTCCTGCCTTCAGTCGGGGGTCAGAGCCTCCAGGCAGTGCCCCAAAATCAAGGGTGGCAAGGGCAAAAAGTCTGGTTGGGACTTAAGGACTGGGATTATAAGACTACCCCCTTCATGTG...
GCTATGCGATGGGCAGAAAGGCAGTGTGTGGAGGTGCCCATACTTTCCATTTGGGGCACAATAGGTTCGGATTCCCTTCACATAGCCCTCTCCCCCAGGAGTGGCCTCCACAGCAGCCACAGAGCAGGGGACAACAGCAAAGTCACAGGCACAGCCTGCCACTGCCAGACACCTGCTGAGGTGGGCTCCCAGGCCGGCCAACTCCTGCCTTCAGTCGGGGGTCAGAGCCTCCAGGCAGTGCCCCAAAATCAAGGGTGGCAAGGGCAAAAAGTCTGGTTGGGACTTAAGGACTGGGATTATAAGACTACCCCCTTCATGTG...
Task1_train_34206
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
TGACCACAGAGAATGACAGAGAAACATGTAGCTATATTTTGAAGAATGTTACCTAGTGAGGAAATGCTTACAGTGTAATCAAGTGAAAAAAAGGGGGAAGAAAACCATTTTTTATATACATATATTCCAATTCCAATTTAGAGAGAAGGAAAACGCAGCACAGACAAGTCCCTATATACACACGTCTATATCGATGACCGAAAATACTGGGAGGAAATCCACCCAAGAGGTAATGGGTGCTTTTTTTTTAACTTTCCTCTTTATCCTTTAATCTTTTTTATTTTTTAGAGACAGTCTCACTCTGTCATCCAGGCTGGAGT...
TGACCACAGAGAATGACAGAGAAACATGTAGCTATATTTTGAAGAATGTTACCTAGTGAGGAAATGCTTACAGTGTAATCAAGTGAAAAAAAGGGGGAAGAAAACCATTTTTTATATACATATATTCCAATTCCAATTTAGAGAGAAGGAAAACGCAGCACAGACAAGTCCCTATATACACACGTCTATATCGATGACCGAAAATACTGGGAGGAAATCCACCCAAGAGGTAATGGGTGCTTTTTTTTTAACTTTCCTCTTTATCCTTTAATCTTTTTTATTTTTTAGAGACAGTCTCACTCTGTCATCCAGGCTGGAGT...
Task1_train_34207
Located on Chromosome 2, this mutation has been observed. What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Benign
CTGGCCGCCGCTCCCGGGCTGCCGAGTGGACCGGCCGTTTCGCCGCTTCAAAGGCTGTCTTTGTTTTGCTCCAGCTCAAGCTTAGAGAAACTTAAGCCAACAACCTCAGCCGAGGGGGCGGGGCGGCGTCTGCTGGTTGTTATTGAGGCTGCTGTTACCATTATTGTGGTAATTGACGCAGTGTTCCCAGTCGGTGACTTTTCATGAAAGGAAGTGTCACTTCCTTCCCATCACACCCAGGGTGAGTGGGGCGGGCAGCAGAAAGATGGGGAGGGAGAGAAGGAAAGGGGTGTGTGCCTCCAGCAGACCCTTAAACTTGA...
CTGGCCGCCGCTCCCGGGCTGCCGAGTGGACCGGCCGTTTCGCCGCTTCAAAGGCTGTCTTTGTTTTGCTCCAGCTCAAGCTTAGAGAAACTTAAGCCAACAACCTCAGCCGAGGGGGCGGGGCGGCGTCTGCTGGTTGTTATTGAGGCTGCTGTTACCATTATTGTGGTAATTGACGCAGTGTTCCCAGTCGGTGACTTTTCATGAAAGGAAGTGTCACTTCCTTCCCATCACACCCAGGGTGAGTGGGGCGGGCAGCAGAAAGATGGGGAGGGAGAGAAGGAAAGGGGTGTGTGCCTCCAGCAGACCCTTAAACTTGA...
Task1_train_34208
This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Benign
AAAGGGCCCCTGGCTTATGTCGTAGGCTAGAGCCTGGACTCCTTACTTCTGTGCTTATTCCACTGTTAGATGATTTTCTTTTTTTTTTTTTTTATTTTGTTATTAGTGTTTATTATTTTTCCGTAGCCATAAAAGAGATACATCTCATTGCTGGAACTTGTCTCTATTAAAAACAAAACAAAACAAAAACCTTATAACAAACAGCATGGCTGGATGCAGTGGTTCACACCTATAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGT...
AAAGGGCCCCTGGCTTATGTCGTAGGCTAGAGCCTGGACTCCTTACTTCTGTGCTTATTCCACTGTTAGATGATTTTCTTTTTTTTTTTTTTTATTTTGTTATTAGTGTTTATTATTTTTCCGTAGCCATAAAAGAGATACATCTCATTGCTGGAACTTGTCTCTATTAAAAACAAAACAAAACAAAAACCTTATAACAAACAGCATGGCTGGATGCAGTGGTTCACACCTATAATCCCAGTACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGT...
Task1_train_34209
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
AGATAAGGTCTTGCTGTGTCACCCAGGCTGTGGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCAACCTCCCCGGCTCAAGTGATCCTCCTATCTCAGCCTCCCAAGTAGCTGGAACTACGGGCATGTGCCAACACATCTGTGTACTTTTTAAAAATGTTTTAGGACAGACAAGCTCTCCCTGTGTTGCCGGGGCTGGTCTTAAAACTCCTGGGCCCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTGCAATTACAGGCATGAGCCACCGTGCCCAGCCTCCCCCAATTTATTTAAAGATAACTCCAACCTTCC...
AGATAAGGTCTTGCTGTGTCACCCAGGCTGTGGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCAACCTCCCCGGCTCAAGTGATCCTCCTATCTCAGCCTCCCAAGTAGCTGGAACTACGGGCATGTGCCAACACATCTGTGTACTTTTTAAAAATGTTTTAGGACAGACAAGCTCTCCCTGTGTTGCCGGGGCTGGTCTTAAAACTCCTGGGCCCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTGCAATTACAGGCATGAGCCACCGTGCCCAGCCTCCCCCAATTTATTTAAAGATAACTCCAACCTTCC...
Task1_train_34210
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
CAGCCACCTGCACCTCCCTAGGGATTTCCAATCTCATCAGACGTGACTGTTGCCTTCAGCGGTCCGTGGAAACTACTTATGGCAGACAGGGAGAGAGCTAGTTAGAAGCTAATATGCTGGGAGAAGGCAGGTGTGAAACTCAGAGAGGATGGGAAAATGGGCAACGCGTGCCTGCACACTGGGGTAGAAAGCAGCGGCAGAAATGTTAGGAAGTCCCGTCTGCCCAGCATGACCCTCCAGCCACAGCCAGGCTGTAACCCTCAGCCACAAAACAGTCTGCTTTTCCACTTCCCTCTCACATAACCCTTGAGTGGGAGGAG...
CAGCCACCTGCACCTCCCTAGGGATTTCCAATCTCATCAGACGTGACTGTTGCCTTCAGCGGTCCGTGGAAACTACTTATGGCAGACAGGGAGAGAGCTAGTTAGAAGCTAATATGCTGGGAGAAGGCAGGTGTGAAACTCAGAGAGGATGGGAAAATGGGCAACGCGTGCCTGCACACTGGGGTAGAAAGCAGCGGCAGAAATGTTAGGAAGTCCCGTCTGCCCAGCATGACCCTCCAGCCACAGCCAGGCTGTAACCCTCAGCCACAAAACAGTCTGCTTTTCCACTTCCCTCTCACATAACCCTTGAGTGGGAGGAG...
Task1_train_34211
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
TGAAACTCAGAGAGGATGGGAAAATGGGCAACGCGTGCCTGCACACTGGGGTAGAAAGCAGCGGCAGAAATGTTAGGAAGTCCCGTCTGCCCAGCATGACCCTCCAGCCACAGCCAGGCTGTAACCCTCAGCCACAAAACAGTCTGCTTTTCCACTTCCCTCTCACATAACCCTTGAGTGGGAGGAGACACCCTCAAACTGGCAGGAGTTGGGCAGAATGGAGCCAAGGTGGAGAGGGGACCCAGAAGGAGGGCTCTGTTCGTGGTGGGAGTCTGGGGGCTCTCTGCCTTGGTGATGCCACCCCCTGCCCTGGCGACCTG...
TGAAACTCAGAGAGGATGGGAAAATGGGCAACGCGTGCCTGCACACTGGGGTAGAAAGCAGCGGCAGAAATGTTAGGAAGTCCCGTCTGCCCAGCATGACCCTCCAGCCACAGCCAGGCTGTAACCCTCAGCCACAAAACAGTCTGCTTTTCCACTTCCCTCTCACATAACCCTTGAGTGGGAGGAGACACCCTCAAACTGGCAGGAGTTGGGCAGAATGGAGCCAAGGTGGAGAGGGGACCCAGAAGGAGGGCTCTGTTCGTGGTGGGAGTCTGGGGGCTCTCTGCCTTGGTGATGCCACCCCCTGCCCTGGCGACCTG...
Task1_train_34212
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
TGCAAAGTCTTTTCTACATAAGGATGTTCATTGCGACATTTATTTATAGAAACCAAAAACTGGAAACAAGTATCCAGCAGTAAGGTACTCAGGAATATAAACTACCCTGTACATCACAAAACTCCAAGGTAACCTAAATATGTCAGGGAGAATATTTAATGGCATGAAAAAATGCTCCTGATGGAGTCTTAAGTAAAAGGTAAGTATATGTACAGTATAAACATATACAGGAGTGGAGAAACACTGGGAAGGTAGACAGAAAAACATTAATATTCCGAGCCATGGGCAGTGGGATTATGGGTGACGTAATTTTTAAATGT...
TGCAAAGTCTTTTCTACATAAGGATGTTCATTGCGACATTTATTTATAGAAACCAAAAACTGGAAACAAGTATCCAGCAGTAAGGTACTCAGGAATATAAACTACCCTGTACATCACAAAACTCCAAGGTAACCTAAATATGTCAGGGAGAATATTTAATGGCATGAAAAAATGCTCCTGATGGAGTCTTAAGTAAAAGGTAAGTATATGTACAGTATAAACATATACAGGAGTGGAGAAACACTGGGAAGGTAGACAGAAAAACATTAATATTCCGAGCCATGGGCAGTGGGATTATGGGTGACGTAATTTTTAAATGT...
Task1_train_34213
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
AGTGTATTTCTGTCATGTTCCAGTCTCCAGACAAAAAGTAGAAAACATCAAAGCCTACACTAGTACAGGCAGGAAGATACAGCTTGATGCTAACACTGCATGAATGTATGGATAAATTTATCATATGTACATGTGAGTGATTATGTTTCCCTTTTGCTTTTCAGTGTCTTCTCAGAAACAACCAGCTGAGAAGGTAATTAAAGTCTCATTTATATGTTGAACTATTAACTGTATAGTCTATGAAACCTACTTTACATATTGATTATTTTGTTTCAAATCCCATTCAGGCTACAAGTGACGAGAAAGATTCTGTTTCAAAT...
AGTGTATTTCTGTCATGTTCCAGTCTCCAGACAAAAAGTAGAAAACATCAAAGCCTACACTAGTACAGGCAGGAAGATACAGCTTGATGCTAACACTGCATGAATGTATGGATAAATTTATCATATGTACATGTGAGTGATTATGTTTCCCTTTTGCTTTTCAGTGTCTTCTCAGAAACAACCAGCTGAGAAGGTAATTAAAGTCTCATTTATATGTTGAACTATTAACTGTATAGTCTATGAAACCTACTTTACATATTGATTATTTTGTTTCAAATCCCATTCAGGCTACAAGTGACGAGAAAGATTCTGTTTCAAAT...
Task1_train_34214
This variant is found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Benign
GTCATATTTATGTATGACTGATTATGAATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAACCACCAACCTTGAAGGTAATGAAACTCCCATTTATCATGTGAACGAGTTAATGTATGGTCTATGAAACATACTTTATTTATTTATTATTTCGTTTCAAATTCCATTCAGGGTACAAGTGACGAGGAAGATTCTGTTTTGGGTATAGCCAGAGAAAACAAGGATGGAGAAAAATCTAGGACAGGTAATTCTGAAAACAGATTTAATGTCATGTTCAGTCCAGATAGATAAGAAGTTCTCTTCCCCAAATAAATCAGCGGGGG...
GTCATATTTATGTATGACTGATTATGAATCCCTTTTGCTTTTCAGTGTCTTCTCAGAAACCACCAACCTTGAAGGTAATGAAACTCCCATTTATCATGTGAACGAGTTAATGTATGGTCTATGAAACATACTTTATTTATTTATTATTTCGTTTCAAATTCCATTCAGGGTACAAGTGACGAGGAAGATTCTGTTTTGGGTATAGCCAGAGAAAACAAGGATGGAGAAAAATCTAGGACAGGTAATTCTGAAAACAGATTTAATGTCATGTTCAGTCCAGATAGATAAGAAGTTCTCTTCCCCAAATAAATCAGCGGGGG...
Task1_train_34215
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TCAGTGTCTTCTCAGAAACCACCAACCTTGAAGGTAATGAAACTCCCATTTATCATGTGAACGAGTTAATGTATGGTCTATGAAACATACTTTATTTATTTATTATTTCGTTTCAAATTCCATTCAGGGTACAAGTGACGAGGAAGATTCTGTTTTGGGTATAGCCAGAGAAAACAAGGATGGAGAAAAATCTAGGACAGGTAATTCTGAAAACAGATTTAATGTCATGTTCAGTCCAGATAGATAAGAAGTTCTCTTCCCCAAATAAATCAGCGGGGGGCTCATCGAAGCTGCACTTTCTGATTCAGCAGGCCGGAGAT...
TCAGTGTCTTCTCAGAAACCACCAACCTTGAAGGTAATGAAACTCCCATTTATCATGTGAACGAGTTAATGTATGGTCTATGAAACATACTTTATTTATTTATTATTTCGTTTCAAATTCCATTCAGGGTACAAGTGACGAGGAAGATTCTGTTTTGGGTATAGCCAGAGAAAACAAGGATGGAGAAAAATCTAGGACAGGTAATTCTGAAAACAGATTTAATGTCATGTTCAGTCCAGATAGATAAGAAGTTCTCTTCCCCAAATAAATCAGCGGGGGGCTCATCGAAGCTGCACTTTCTGATTCAGCAGGCCGGAGAT...
Task1_train_34216
A variant found on Chromosome 2 is being studied. Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Benign
TTATTTGAAATGAAGAATCTCAGGACTGCTGAATCAGAATGTGCAGCTTCAACGAGCCCCCCGCAGATTTATTCAGGGAAGAGAATTTCTTATCTACCCGGACTGAACATGACATTAAATCTCTTTTCAAAATTACCTCTCCTAGTTTTTTCTCCATCTTTTTTTCCTCTGGCTATATTCAAAAGAGAATCTTTCTCGTCTCTTGTAGCCTGAATGGAATTTGAAATGAAATAATAAATTAATAAAGTATGTTTCATAGACTATACATTTACTAGTTCACAATATAAATGACAGTTTCATTACCTTCAAGCCTGGTGGTT...
TTATTTGAAATGAAGAATCTCAGGACTGCTGAATCAGAATGTGCAGCTTCAACGAGCCCCCCGCAGATTTATTCAGGGAAGAGAATTTCTTATCTACCCGGACTGAACATGACATTAAATCTCTTTTCAAAATTACCTCTCCTAGTTTTTTCTCCATCTTTTTTTCCTCTGGCTATATTCAAAAGAGAATCTTTCTCGTCTCTTGTAGCCTGAATGGAATTTGAAATGAAATAATAAATTAATAAAGTATGTTTCATAGACTATACATTTACTAGTTCACAATATAAATGACAGTTTCATTACCTTCAAGCCTGGTGGTT...
Task1_train_34217
A mutation on Chromosome 2 is under examination. Does this mutation cause a disorder, or is it a benign change?
Benign
GTAAAATATAAATCAGAAATAAAAATACAATGGCTTATCAATTAAAGCTCTAATAATGACCTATATGTATTCTTTGTATTCTTACTAACTTCATGGTTTTCAGTGTTTAAAACTGCTATCCTGATTATGCCACAGTTCTATGTACTTAACTGACATACTGAGGCAGTCCATAATAGAGCTTCAGCTTTAAAAAAAGGTTTAGAATTTTTTGCTATTGTAATTGAGAGAACCCCGCTTTTAATAATGATGTATTGACCTAATCACCAGAATGATAACAAAGAGACTCAGAGTCCTGAAAGAGTCAGTCTCTACTTATTAAA...
GTAAAATATAAATCAGAAATAAAAATACAATGGCTTATCAATTAAAGCTCTAATAATGACCTATATGTATTCTTTGTATTCTTACTAACTTCATGGTTTTCAGTGTTTAAAACTGCTATCCTGATTATGCCACAGTTCTATGTACTTAACTGACATACTGAGGCAGTCCATAATAGAGCTTCAGCTTTAAAAAAAGGTTTAGAATTTTTTGCTATTGTAATTGAGAGAACCCCGCTTTTAATAATGATGTATTGACCTAATCACCAGAATGATAACAAAGAGACTCAGAGTCCTGAAAGAGTCAGTCTCTACTTATTAAA...
Task1_train_34218
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
CGCCCTCCTTGGGCACTAGAAAGTTTTGCGATGAATAGCACGGGAGCCATCCTCTTCATACTCCTTTTTGGACACCCACATCTTCTTAAAAGTGTCCAGCGAGGCCAGGATGGAGCCGCTGTGGGGATGGAGGGATAGTATTGCTGTGGACCTGTCAGGGAGCCAACCACCTTCCTGGGTGCTCAGAGTTGCATTTCCCTAATTTGGGAGGGAAATCCACCCACCTCCACGTGGCCTAGGCCAACAATGGGAGGAGCATCCAGGGTAAAGTGGTCTCCTCCCAGAGCCCTCCCTTGAGCCCCGCCTCACCCAATCCATGT...
CGCCCTCCTTGGGCACTAGAAAGTTTTGCGATGAATAGCACGGGAGCCATCCTCTTCATACTCCTTTTTGGACACCCACATCTTCTTAAAAGTGTCCAGCGAGGCCAGGATGGAGCCGCTGTGGGGATGGAGGGATAGTATTGCTGTGGACCTGTCAGGGAGCCAACCACCTTCCTGGGTGCTCAGAGTTGCATTTCCCTAATTTGGGAGGGAAATCCACCCACCTCCACGTGGCCTAGGCCAACAATGGGAGGAGCATCCAGGGTAAAGTGGTCTCCTCCCAGAGCCCTCCCTTGAGCCCCGCCTCACCCAATCCATGT...
Task1_train_34219
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
GCACAGCATGAGTGACCCCGTCCCCTGAGTCTAGAACCACTCCTGTCGTGCGTCCTGTTGCGTACCTGTCACCAGGTCAGCATCCCCTCACCTCAGCCACTGAGGCACGGGGACCTCCTCACCCAGGGGAGGAACCCTGGCACATCTGCATTATCTAGTCTGAAGAGAGGACACGAGGGACTCCCTAGAGGAACAGTCATCAAGGGGCTGTTTTTCCAGGGAAGTCAGACCCTGGTCATGGCAAGCAGGACGGCACAGGGAGGACAGGACTCAGGGAGGCCAGGCTTAGGGAGCACTCACAGACTGAGCACAGCCTGCAT...
GCACAGCATGAGTGACCCCGTCCCCTGAGTCTAGAACCACTCCTGTCGTGCGTCCTGTTGCGTACCTGTCACCAGGTCAGCATCCCCTCACCTCAGCCACTGAGGCACGGGGACCTCCTCACCCAGGGGAGGAACCCTGGCACATCTGCATTATCTAGTCTGAAGAGAGGACACGAGGGACTCCCTAGAGGAACAGTCATCAAGGGGCTGTTTTTCCAGGGAAGTCAGACCCTGGTCATGGCAAGCAGGACGGCACAGGGAGGACAGGACTCAGGGAGGCCAGGCTTAGGGAGCACTCACAGACTGAGCACAGCCTGCAT...
Task1_train_34220
This alteration on Chromosome 2 may affect genome function. Does it lead to a disease or is it benign?
Benign
GGTTCATTTTCTGGTGTCTCTGTGGTGAGCTCCTGTTACATCAAGCGAGTGGAAACCACCGAGGACCAACAGCCCTGGAAATACACGGAGAATAAATATAGGATGAGTGGGCTTTGTGAGGGCTGTTTTCTGTGACTTAGCAAGGAAAGCCTAGAGGGGAAGGTAAAACTGCTTCTTCCCAGGGAAGCCAGAAGCCTGAGAACTTAAAAGGGAAGGAGAACTTAATGTATTTCAAAAATGTAACCCTCATGAATTAGCAACAGTTTTATAAAGAAAGAGCTTTCTGAGCTTTTAGAATCTGTTCTGATTCATCTGTGCCC...
GGTTCATTTTCTGGTGTCTCTGTGGTGAGCTCCTGTTACATCAAGCGAGTGGAAACCACCGAGGACCAACAGCCCTGGAAATACACGGAGAATAAATATAGGATGAGTGGGCTTTGTGAGGGCTGTTTTCTGTGACTTAGCAAGGAAAGCCTAGAGGGGAAGGTAAAACTGCTTCTTCCCAGGGAAGCCAGAAGCCTGAGAACTTAAAAGGGAAGGAGAACTTAATGTATTTCAAAAATGTAACCCTCATGAATTAGCAACAGTTTTATAAAGAAAGAGCTTTCTGAGCTTTTAGAATCTGTTCTGATTCATCTGTGCCC...
Task1_train_34221
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TTAAATACGGACAACTTCTGAATGTGTCTTTTGCCTTTCATGGTATTTTAACTGACATCTTTAATTCACCCGCTAAAGTGAATTAAATCTGCAGTGAATACAACCTGCAGTTAAAATTTATGAATTAAACCAACTCCAGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGTCAAGGTGGGCGGATCACCTGAGGCCAGGAGTTAGAGACTACCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAGAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCGCAGCTACT...
TTAAATACGGACAACTTCTGAATGTGTCTTTTGCCTTTCATGGTATTTTAACTGACATCTTTAATTCACCCGCTAAAGTGAATTAAATCTGCAGTGAATACAACCTGCAGTTAAAATTTATGAATTAAACCAACTCCAGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGTCAAGGTGGGCGGATCACCTGAGGCCAGGAGTTAGAGACTACCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAGAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAATCGCAGCTACT...
Task1_train_34222
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GCCCACCCACTGGTGAAGCTGGGTCCTGGGGGCGTGGTCAGCAGCCTGGATGTACCCCACGCCCCACAGGTGGGAGGATCGCCCCGACTTCCTGACCGTGGAGCAGCGCATGCGAGCCTGTTACTACAGCCTGGCCAGCAAGGTGGAAGGGCCCCCAGGCAGCACACAGAAGGCTGAGGCTGCCTGTGCCTGAGCTCCCGCTGCCCAGGGGAGCCCTCCACGCCGGCTCTTCCCCACCCTCAGCCCCACCCCAGGTCCTGCAGTCTGGCTGAGCCCTGCTTGGTTGTCTCCACACACAGCTGGGCTGTGGTAGGGGGTGT...
GCCCACCCACTGGTGAAGCTGGGTCCTGGGGGCGTGGTCAGCAGCCTGGATGTACCCCACGCCCCACAGGTGGGAGGATCGCCCCGACTTCCTGACCGTGGAGCAGCGCATGCGAGCCTGTTACTACAGCCTGGCCAGCAAGGTGGAAGGGCCCCCAGGCAGCACACAGAAGGCTGAGGCTGCCTGTGCCTGAGCTCCCGCTGCCCAGGGGAGCCCTCCACGCCGGCTCTTCCCCACCCTCAGCCCCACCCCAGGTCCTGCAGTCTGGCTGAGCCCTGCTTGGTTGTCTCCACACACAGCTGGGCTGTGGTAGGGGGTGT...
Task1_train_34223
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
TAGGTTCTCAATGAGTGACCCTGAAAATAGAATTGGCCCATCACGCTGGTGTTGGAAGACTGTGTTGACACAGGAATGAGGTAGTCAATTTGACTGCCCAACTCTTTCTTTGTGATAAGAAAGGATAATACAGATTTATTTTATTCACGCCCTAAATGTGGGGAAAACGCTATGTAACTTGATCTAATTAAAAAAGAACTTTTAAGTATTCACTTAAGATTATTCTAAAAATTACCCTAAAATATGTAAGCTCAGTTAATAATGGGTTAGCCAAAAAGGATTTCTGTAGAAGAGGTTAACCAATCATATTCAAGACATCT...
TAGGTTCTCAATGAGTGACCCTGAAAATAGAATTGGCCCATCACGCTGGTGTTGGAAGACTGTGTTGACACAGGAATGAGGTAGTCAATTTGACTGCCCAACTCTTTCTTTGTGATAAGAAAGGATAATACAGATTTATTTTATTCACGCCCTAAATGTGGGGAAAACGCTATGTAACTTGATCTAATTAAAAAAGAACTTTTAAGTATTCACTTAAGATTATTCTAAAAATTACCCTAAAATATGTAAGCTCAGTTAATAATGGGTTAGCCAAAAAGGATTTCTGTAGAAGAGGTTAACCAATCATATTCAAGACATCT...
Task1_train_34224
A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
ACCCACTACTTACTTTTTCCAAAGCTTAAATTACCTTTTTTTTTTTTTTTTTTTTTGATGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTCCGCCTCCTGCGTTCAAGCGATTCTCCAGCCTCGGCCTCCCAAGTAGCTACAGGTGTGCGCCACCGTATCCAGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATTCACTCACCTTGGCCTCTCAGAGTCCTGGGATTACAGGCATGAGCCATCATGCCAG...
ACCCACTACTTACTTTTTCCAAAGCTTAAATTACCTTTTTTTTTTTTTTTTTTTTTGATGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTCCGCCTCCTGCGTTCAAGCGATTCTCCAGCCTCGGCCTCCCAAGTAGCTACAGGTGTGCGCCACCGTATCCAGCTACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATTCACTCACCTTGGCCTCTCAGAGTCCTGGGATTACAGGCATGAGCCATCATGCCAG...
Task1_train_34225
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
TTATACCTAGTATTAAGGCTTACTATGTAGCTGCATTCATCAAGATGTATTTGCTCTGGTGGAGAAACAGACACGTAGACCAATGGAACAGTTATAGAAATACACCCACACAACATGCTCGACTGATTTTTGACAAAGATGCAAAAGCAATCCAGCGGAGGAAGGATAGCCATCTCAATAAATGGTTGGAGCAATTGGATATCCAAAGGCAAAATAATAAACCCCAACCTAAACCTCATACCTCATGGACATCTTAACTCAAAATGGAGTGTGGACTTAAATCTAAAACATAAAACTGTAAAACTTCTAGAAAGAAATGT...
TTATACCTAGTATTAAGGCTTACTATGTAGCTGCATTCATCAAGATGTATTTGCTCTGGTGGAGAAACAGACACGTAGACCAATGGAACAGTTATAGAAATACACCCACACAACATGCTCGACTGATTTTTGACAAAGATGCAAAAGCAATCCAGCGGAGGAAGGATAGCCATCTCAATAAATGGTTGGAGCAATTGGATATCCAAAGGCAAAATAATAAACCCCAACCTAAACCTCATACCTCATGGACATCTTAACTCAAAATGGAGTGTGGACTTAAATCTAAAACATAAAACTGTAAAACTTCTAGAAAGAAATGT...
Task1_train_34226
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
AGCCTGCTCAGAAGCCAGATGTCCTCCCTCAGGAGCTCAGCTTGCAGTGAAAGGAAGGATGGCCTCTCCAATGCCAGCAGCCGGAGGACTGCTCTAAGTGACAAAGGCAAGCCAGAAAGCATCTCTGTGGCCAACCAGCCTCCCTTTCCACAGTGTATCTGTTCCAGAAAGAGCTGCGTGTAGATATGTTGGGGAAATCATATTTTAAATGGGCCCAGATTGCTTCCTATTCAAAGGAATCCCTTGTAAGTCAGGTCTGCCTGCTTTATGACCTGGATTTTCTGAGAGCTGGCCTTGTGCTTATGGTGCCTGGGTGTTTA...
AGCCTGCTCAGAAGCCAGATGTCCTCCCTCAGGAGCTCAGCTTGCAGTGAAAGGAAGGATGGCCTCTCCAATGCCAGCAGCCGGAGGACTGCTCTAAGTGACAAAGGCAAGCCAGAAAGCATCTCTGTGGCCAACCAGCCTCCCTTTCCACAGTGTATCTGTTCCAGAAAGAGCTGCGTGTAGATATGTTGGGGAAATCATATTTTAAATGGGCCCAGATTGCTTCCTATTCAAAGGAATCCCTTGTAAGTCAGGTCTGCCTGCTTTATGACCTGGATTTTCTGAGAGCTGGCCTTGTGCTTATGGTGCCTGGGTGTTTA...
Task1_train_34227
Given a variant located on Chromosome 2, assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Benign
ACAGGGAGAAACTGAACCCTAATTTATTTCTTGTAGGAGGTTTGGGGACAGCTCCTTCATATTCTCTGCAGTTATATTACTATTCTTGAGTTTTATTTGGGACGAAATATATTTAGTGAACTCTACTTAGAAATAGAATTTTCTTGGGCTTATTATGCCTCCTTCTAAATGTCCCAACAACTTGAGGTAGAGTGAAAAGTAAATTTCTTGAAAAAAATATGGTAGGATAGGGAAGCAGAAGCATAAAATCCAAGGAAGAAACAATAAAGGAAAGATTTATAGGCTGAGTAGGTAAAAATGTTATTTTGCTTAAAAACATG...
ACAGGGAGAAACTGAACCCTAATTTATTTCTTGTAGGAGGTTTGGGGACAGCTCCTTCATATTCTCTGCAGTTATATTACTATTCTTGAGTTTTATTTGGGACGAAATATATTTAGTGAACTCTACTTAGAAATAGAATTTTCTTGGGCTTATTATGCCTCCTTCTAAATGTCCCAACAACTTGAGGTAGAGTGAAAAGTAAATTTCTTGAAAAAAATATGGTAGGATAGGGAAGCAGAAGCATAAAATCCAAGGAAGAAACAATAAAGGAAAGATTTATAGGCTGAGTAGGTAAAAATGTTATTTTGCTTAAAAACATG...
Task1_train_34228
The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
ATGCACACTCATGTATTTGGTACAGATGATGCACATAACAGCTTACAACACATAATTGTGTGGACATTTCTTTTTGGTTTTTGGCTCAAGAATATATTATGGCCATCATTCAATGTGAAGACCTGCAAAGATAGTAAACCTCATTCATTTTAATGGTAGTATTGTATCCTATAGGATACATCAGAATTTGTGTATTTGCGCCAGGCGTGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGACCCCCATCTCTACCAAA...
ATGCACACTCATGTATTTGGTACAGATGATGCACATAACAGCTTACAACACATAATTGTGTGGACATTTCTTTTTGGTTTTTGGCTCAAGAATATATTATGGCCATCATTCAATGTGAAGACCTGCAAAGATAGTAAACCTCATTCATTTTAATGGTAGTATTGTATCCTATAGGATACATCAGAATTTGTGTATTTGCGCCAGGCGTGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAGACCCCCATCTCTACCAAA...
Task1_train_34229
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
GATATAATTTTTCTCATTTCTTTTCATTATCTATTTAAAACCTCAAATTAGCTTATATTTTATATAGTCAATACTTACTATTTATAAGTTTACCCACATTCTTAACATTTTGTTGCGCTTCGTTTCCTGCATCTTGTACCTTCCATTTGAGATCATTTCTTCCTATCTGAAGAACACTTTAGAGTTTTTTTTAGTATGGATCAGTTAGTAAGACATTCTGTTTTGCTTTCTAAAAACATCTTTATTGCATCTTCATTCTTTAGTTTTATATGTTTACTGAGTGAGGAATTATTGGTTGAAGTTTAACACTTTGAAGTTAT...
GATATAATTTTTCTCATTTCTTTTCATTATCTATTTAAAACCTCAAATTAGCTTATATTTTATATAGTCAATACTTACTATTTATAAGTTTACCCACATTCTTAACATTTTGTTGCGCTTCGTTTCCTGCATCTTGTACCTTCCATTTGAGATCATTTCTTCCTATCTGAAGAACACTTTAGAGTTTTTTTTAGTATGGATCAGTTAGTAAGACATTCTGTTTTGCTTTCTAAAAACATCTTTATTGCATCTTCATTCTTTAGTTTTATATGTTTACTGAGTGAGGAATTATTGGTTGAAGTTTAACACTTTGAAGTTAT...
Task1_train_34230
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
TAAGGACAAAAGCTTCTAATCATCCTGAGCTACAAAGAGATTCATCAGGGTCATTTTAACCCTAATCCAGGCACAAGCAGAGCTTTCCTCTATTATCAGTCTCATCCTTAGCCTGTTCGTCTGGTCCTCTAAGATACACAAATCCTGGAAAAAGAACCCTGGGCTTGTAAAAAGTTCTGATCTCATAAAGGAGTTTTTCTCAGGCTTAAAAATATTAGTACTGAGGGTCAGTCTTTATAATAGGCTTCCAAAAACAGATATCCCCTAACAGTTTTGGACCACTCCATTTACCAAACTGTGACTGTGATAGCATGTACCTA...
TAAGGACAAAAGCTTCTAATCATCCTGAGCTACAAAGAGATTCATCAGGGTCATTTTAACCCTAATCCAGGCACAAGCAGAGCTTTCCTCTATTATCAGTCTCATCCTTAGCCTGTTCGTCTGGTCCTCTAAGATACACAAATCCTGGAAAAAGAACCCTGGGCTTGTAAAAAGTTCTGATCTCATAAAGGAGTTTTTCTCAGGCTTAAAAATATTAGTACTGAGGGTCAGTCTTTATAATAGGCTTCCAAAAACAGATATCCCCTAACAGTTTTGGACCACTCCATTTACCAAACTGTGACTGTGATAGCATGTACCTA...
Task1_train_34231
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
TTTTTTTTTTTGAGATAGGGTCTCACTCTGCTGCCCAGTCTGGAGTGCAGTGGTGCGATCTGCAACCTCAACCCCTAGGGCTCAAACAATCCTCCCGCCTCAGCCTCCCAAGTAGCTGAGACCGCAGGTGCGTGCCACCACGCCCAGCTAATTTTTTTTTTCTTTTTGGTAGAGACACGGTCTCACTGTGTTGCCCAGGTTGGTCTTGCACTCCTGGGCTCAAGCAATCCTCCCGCCTCGGCCTCCGAAAGTGTGCGAATTACAGGCATGAGCCACTGTGCCCAGCCTGCTCATGTATTCTTAAGCTCACAACCCCATGA...
TTTTTTTTTTTGAGATAGGGTCTCACTCTGCTGCCCAGTCTGGAGTGCAGTGGTGCGATCTGCAACCTCAACCCCTAGGGCTCAAACAATCCTCCCGCCTCAGCCTCCCAAGTAGCTGAGACCGCAGGTGCGTGCCACCACGCCCAGCTAATTTTTTTTTTCTTTTTGGTAGAGACACGGTCTCACTGTGTTGCCCAGGTTGGTCTTGCACTCCTGGGCTCAAGCAATCCTCCCGCCTCGGCCTCCGAAAGTGTGCGAATTACAGGCATGAGCCACTGTGCCCAGCCTGCTCATGTATTCTTAAGCTCACAACCCCATGA...
Task1_train_34232
This mutation on Chromosome 2 may be significant. Is it associated with any clinical condition, or is it benign?
Benign
GCCACAGGTGAAATTACCACAGTATTATCAGGTTCCACCTAAAGCCCCTCACCCTAATACCAACTTGGTTTATTAGTAATGAGAGCCTGACTACACAGAAAAGTCCCACAAGCTGGATGATCACCCATTTCTGGGTTAGCTCAGGCTCTGGCTAAACATCATATGGAATGTGACAGGCAACTGTGAGTAGATGCCATGCTCACAGATGATCATGCCAGTGATGGGGAAAAAGACAAAGTAGATATGATTAAAAGAAGAAAAAAAGAAAACCTAATTTGTCACATGCAGAGAAAGTTCAGCCTCTTGAGATAAACAGAATG...
GCCACAGGTGAAATTACCACAGTATTATCAGGTTCCACCTAAAGCCCCTCACCCTAATACCAACTTGGTTTATTAGTAATGAGAGCCTGACTACACAGAAAAGTCCCACAAGCTGGATGATCACCCATTTCTGGGTTAGCTCAGGCTCTGGCTAAACATCATATGGAATGTGACAGGCAACTGTGAGTAGATGCCATGCTCACAGATGATCATGCCAGTGATGGGGAAAAAGACAAAGTAGATATGATTAAAAGAAGAAAAAAAGAAAACCTAATTTGTCACATGCAGAGAAAGTTCAGCCTCTTGAGATAAACAGAATG...
Task1_train_34233
A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
CTTTAATGGATGATTAAGGTATTCCCCTGCACAAAAACCTTCGAAATGGGCTACACGTTCAGGCTCTGCTGCCAGAGATGCCCCCCAGCTCTCCCTGTCCTTGCTTTTGCTGCCCTTCTCACTCCCTGGACTCACCGCTTCCATTCCTGACCCTGGACGTATTCAAATATCCCTCCTCTACAGAGCCCTGTTTTCAGGGCCCCTCCACCATGAAGCCCTCCTTGATCAATGCTAACAGAAGCAACAGCTGCTGGTTCTGATGCTGCATCAGGGTCTGCCGTATTCATTTTCACCTGCCACAACCTTGAACTTCATGAGGC...
CTTTAATGGATGATTAAGGTATTCCCCTGCACAAAAACCTTCGAAATGGGCTACACGTTCAGGCTCTGCTGCCAGAGATGCCCCCCAGCTCTCCCTGTCCTTGCTTTTGCTGCCCTTCTCACTCCCTGGACTCACCGCTTCCATTCCTGACCCTGGACGTATTCAAATATCCCTCCTCTACAGAGCCCTGTTTTCAGGGCCCCTCCACCATGAAGCCCTCCTTGATCAATGCTAACAGAAGCAACAGCTGCTGGTTCTGATGCTGCATCAGGGTCTGCCGTATTCATTTTCACCTGCCACAACCTTGAACTTCATGAGGC...
Task1_train_34234
Consider this mutation on Chromosome 2. Is this a benign change or a disease-causing variant?
Benign
GGGACTACAGGTGCCCGCCACCATACCTGGCTAATTTTGTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCTATCTCCCGCCCTTGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCAGCTTCTATTCTAGTGACGACCTCCAGCTATCACTTCTTCACTCAGCCCCCTACAAGGCAGCATCGAAACAGAAGTGAGTAAGGTCTGTGTTGTAAACAGGGCTCACACATACATGCATTTTATTCTTGTAAGAACAGATG...
GGGACTACAGGTGCCCGCCACCATACCTGGCTAATTTTGTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCGGGATGGTCTCTATCTCCCGCCCTTGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCAAGCAGCTTCTATTCTAGTGACGACCTCCAGCTATCACTTCTTCACTCAGCCCCCTACAAGGCAGCATCGAAACAGAAGTGAGTAAGGTCTGTGTTGTAAACAGGGCTCACACATACATGCATTTTATTCTTGTAAGAACAGATG...
Task1_train_34235
The following genetic variant occurs on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Benign
GCGTTTGCGGGAACCTTGGTAAAATCCTCCCTGTTTCTCGCGCGCGCCTCTCTCTCCAGCTTCTTTTTCTTGGATTCTCGCCTGTCTCCTCCCACAGAGGAAAAAAAAAAAAAGGTCACGTATGTTTGGAAAAATATGTAGGTCAGTGGAACATTTCCTGCACTGGTGCAAAAGGAGAGGAGGGCAGCGGAGGAGGGGAGGGAGAGGCAGAGTGGAGCTCCAAGTGCCCGCTCCTGGCCGCAGCCCCACACCCCACGTGCCCCTGCCGGGGAGGGGGGCAATTAGCCGGTTCCTTTCCATCCTTGACCCATTTTCCGGAC...
GCGTTTGCGGGAACCTTGGTAAAATCCTCCCTGTTTCTCGCGCGCGCCTCTCTCTCCAGCTTCTTTTTCTTGGATTCTCGCCTGTCTCCTCCCACAGAGGAAAAAAAAAAAAAGGTCACGTATGTTTGGAAAAATATGTAGGTCAGTGGAACATTTCCTGCACTGGTGCAAAAGGAGAGGAGGGCAGCGGAGGAGGGGAGGGAGAGGCAGAGTGGAGCTCCAAGTGCCCGCTCCTGGCCGCAGCCCCACACCCCACGTGCCCCTGCCGGGGAGGGGGGCAATTAGCCGGTTCCTTTCCATCCTTGACCCATTTTCCGGAC...
Task1_train_34236
A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
CGCGCGCCTCTCTCTCCAGCTTCTTTTTCTTGGATTCTCGCCTGTCTCCTCCCACAGAGGAAAAAAAAAAAAAGGTCACGTATGTTTGGAAAAATATGTAGGTCAGTGGAACATTTCCTGCACTGGTGCAAAAGGAGAGGAGGGCAGCGGAGGAGGGGAGGGAGAGGCAGAGTGGAGCTCCAAGTGCCCGCTCCTGGCCGCAGCCCCACACCCCACGTGCCCCTGCCGGGGAGGGGGGCAATTAGCCGGTTCCTTTCCATCCTTGACCCATTTTCCGGACCAGCTACGTTCGCCTTAGGACAGGCACTGGTTATTCCTCC...
CGCGCGCCTCTCTCTCCAGCTTCTTTTTCTTGGATTCTCGCCTGTCTCCTCCCACAGAGGAAAAAAAAAAAAAGGTCACGTATGTTTGGAAAAATATGTAGGTCAGTGGAACATTTCCTGCACTGGTGCAAAAGGAGAGGAGGGCAGCGGAGGAGGGGAGGGAGAGGCAGAGTGGAGCTCCAAGTGCCCGCTCCTGGCCGCAGCCCCACACCCCACGTGCCCCTGCCGGGGAGGGGGGCAATTAGCCGGTTCCTTTCCATCCTTGACCCATTTTCCGGACCAGCTACGTTCGCCTTAGGACAGGCACTGGTTATTCCTCC...
Task1_train_34237
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GAGTGTAGGGTGGCAGATGGGGGTGGGAAGTTAAGTAATTTAATTGGCAACTAATTTTAAACATTTGCATGACAAAATTAACATGGATGCATATCCATTAGAATACAAAATCCAAGTGAATTTTAAGGATTAAAGGCAAAACTGCAAACCCGGGGTCATACCCTCATACCCCCAGAGCCCCTGGGGCTACACAATTAGGATTCTTCTGTTTTGAATCCCCTTTCATGCTGGTGAAAATATTTGAGCAGCTCAGTGTCAACAAAAATGTACCTCTGCACATATCAGGTAGCGTCCCCAACATGTGCCAGATCCTTCCAGAA...
GAGTGTAGGGTGGCAGATGGGGGTGGGAAGTTAAGTAATTTAATTGGCAACTAATTTTAAACATTTGCATGACAAAATTAACATGGATGCATATCCATTAGAATACAAAATCCAAGTGAATTTTAAGGATTAAAGGCAAAACTGCAAACCCGGGGTCATACCCTCATACCCCCAGAGCCCCTGGGGCTACACAATTAGGATTCTTCTGTTTTGAATCCCCTTTCATGCTGGTGAAAATATTTGAGCAGCTCAGTGTCAACAAAAATGTACCTCTGCACATATCAGGTAGCGTCCCCAACATGTGCCAGATCCTTCCAGAA...
Task1_train_34238
Mutation context: Chromosome 2. Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Benign
CTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACGGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTTAGTGGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCAGGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGGCCCAGCACAGGTATTTTTAAATGCATGGGTAGCAACAGAACCTTCCTTTTAAAGGAAGTCTGAGGTCAAAGCCACTCTGGTCAAGATGGGAGTGTCTTGTGGGCAAAACTTCTTGGCCTTGCTCAGCT...
CTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACGGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTTAGTGGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCAGGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGTCACCGCCCCAGGCCCAGCACAGGTATTTTTAAATGCATGGGTAGCAACAGAACCTTCCTTTTAAAGGAAGTCTGAGGTCAAAGCCACTCTGGTCAAGATGGGAGTGTCTTGTGGGCAAAACTTCTTGGCCTTGCTCAGCT...
Task1_train_34239
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
ATGTGCCATACCGAATCCGTGTGCGGCTGTCCAGAAAACGTAATGAGGATGAAGATTCACCAAATAAGCTATATACTTTGGTTACCTATGTACCTGTTACCACTTTCAAAAGTAAGTTCTCCATCCCATAAAGCCATTTAAATTCATTAGAAAAATGTCCTTACCTCTTAAAATGTGAATTCATCTGTTAAGCTAGGGGTGACACACGTCATTGTACCCTTTTTAAATTGTTGGTGTGGGAAGATGCTAAAGAATGCAAAACTGATCCATATCTGGGATGTAAAAAGGTTGTGGAAAATAGAATGCCCAGACCCGTCTAC...
ATGTGCCATACCGAATCCGTGTGCGGCTGTCCAGAAAACGTAATGAGGATGAAGATTCACCAAATAAGCTATATACTTTGGTTACCTATGTACCTGTTACCACTTTCAAAAGTAAGTTCTCCATCCCATAAAGCCATTTAAATTCATTAGAAAAATGTCCTTACCTCTTAAAATGTGAATTCATCTGTTAAGCTAGGGGTGACACACGTCATTGTACCCTTTTTAAATTGTTGGTGTGGGAAGATGCTAAAGAATGCAAAACTGATCCATATCTGGGATGTAAAAAGGTTGTGGAAAATAGAATGCCCAGACCCGTCTAC...
Task1_train_34240
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
AAAAAAAAAGAAAAATGCTTGGGTACTAATATAACAAATATTTATTTGGGGGAAAAGATCCATGGTTATTCTGAAAGGAAACCTGAGTATGAACATGGCCCGTTTTGTTTGAAACATCATCTATAGAAAAAAAAAGGTTATGTGTATCAGAATGTTAATACTGATAGCTCTGAGTGATGAAGTTTAACTCATTTTGATCATATATCCAGAGAGTAGAATGAGCATCTGAGAGCAATTCCCAGCACAGTAGACGAGCAGCATTTCTCAAACATGCTACGAAACACTAATCCCACAAGATGTTTTGTGGTCAAAAGAAAAAA...
AAAAAAAAAGAAAAATGCTTGGGTACTAATATAACAAATATTTATTTGGGGGAAAAGATCCATGGTTATTCTGAAAGGAAACCTGAGTATGAACATGGCCCGTTTTGTTTGAAACATCATCTATAGAAAAAAAAAGGTTATGTGTATCAGAATGTTAATACTGATAGCTCTGAGTGATGAAGTTTAACTCATTTTGATCATATATCCAGAGAGTAGAATGAGCATCTGAGAGCAATTCCCAGCACAGTAGACGAGCAGCATTTCTCAAACATGCTACGAAACACTAATCCCACAAGATGTTTTGTGGTCAAAAGAAAAAA...
Task1_train_34241
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
CAAACCTCAGGAGCAGGGATAGCAACCCTTCTCACCTGTGAGGGGTGACCCCGTCACCCCCTCCAAGCTGTGGGGCAATTCCCCACACCCTCTCAGGACAGCCGGCACATCAGAAATGACAGCAGACCACACACAGGCCCCGCATTCTTCTCATCCCCACATGGCTCTCCCCATGTGTACTCCCCTTTGGAGACCACGGCCTGAGACATGAAGAAGGGGATCATCAGGGTCTGGAGGGACCATACCATGTCATCATCCGCAGAGGTGTCGTAGTGCACGGGGTGGTTGGCGTGGACCTGCTTCAACCTCGCAAGCAGCGC...
CAAACCTCAGGAGCAGGGATAGCAACCCTTCTCACCTGTGAGGGGTGACCCCGTCACCCCCTCCAAGCTGTGGGGCAATTCCCCACACCCTCTCAGGACAGCCGGCACATCAGAAATGACAGCAGACCACACACAGGCCCCGCATTCTTCTCATCCCCACATGGCTCTCCCCATGTGTACTCCCCTTTGGAGACCACGGCCTGAGACATGAAGAAGGGGATCATCAGGGTCTGGAGGGACCATACCATGTCATCATCCGCAGAGGTGTCGTAGTGCACGGGGTGGTTGGCGTGGACCTGCTTCAACCTCGCAAGCAGCGC...
Task1_train_34242
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
TGTTCCACAATGCAGTCTTTTCTTCCTCTGGTGCTGGTTAATACTTACATTCTAATATTTCTACCGATTTTTGCCTCACAGATCCTAAATGTGCTACAAAAAAACTGACTTAGTTTCAATCTTACTGCTTTGGAAAAATATGCTTCCTCTTCTAGGATGACAAAATTCAAAACCTGAAGCATCGATTCTTCCCACTTAAAATAACCTTTAAGTGAATCCAATTCCAATAAAAATTCTGATGAGATTTTCTTTTACTTGGCAAAATGATTTTAGAATTAATCTTTAAAAAATGTAGAATAGGCTGGGTGTGGTGGCTCATG...
TGTTCCACAATGCAGTCTTTTCTTCCTCTGGTGCTGGTTAATACTTACATTCTAATATTTCTACCGATTTTTGCCTCACAGATCCTAAATGTGCTACAAAAAAACTGACTTAGTTTCAATCTTACTGCTTTGGAAAAATATGCTTCCTCTTCTAGGATGACAAAATTCAAAACCTGAAGCATCGATTCTTCCCACTTAAAATAACCTTTAAGTGAATCCAATTCCAATAAAAATTCTGATGAGATTTTCTTTTACTTGGCAAAATGATTTTAGAATTAATCTTTAAAAAATGTAGAATAGGCTGGGTGTGGTGGCTCATG...
Task1_train_34243
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
CCCACTTAAAATAACCTTTAAGTGAATCCAATTCCAATAAAAATTCTGATGAGATTTTCTTTTACTTGGCAAAATGATTTTAGAATTAATCTTTAAAAAATGTAGAATAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCCAGGAGGGTGGATCACCTGAGGTGGGCAAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCTGAGATCGTGTCACTGCACTCCAGACTGGCCGACAGAGCAAGACTCCATCTCAAATAATAATAATAATAATAATAATAATGATGATGATGATGATAAT...
CCCACTTAAAATAACCTTTAAGTGAATCCAATTCCAATAAAAATTCTGATGAGATTTTCTTTTACTTGGCAAAATGATTTTAGAATTAATCTTTAAAAAATGTAGAATAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCCAGGAGGGTGGATCACCTGAGGTGGGCAAATCACTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCTGAGATCGTGTCACTGCACTCCAGACTGGCCGACAGAGCAAGACTCCATCTCAAATAATAATAATAATAATAATAATAATGATGATGATGATGATAAT...
Task1_train_34244
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
CATGCCCTCCTTTCTGCTGCGACTGAGGAACTGTCCTTGGACCGCCTGTGACCAAGCCTCCAGTGTTCTGGACTCAGCCTTCTTGCCTTCTGGAAGACTCTCGCAGATCACTCCCACACAATTTCAAACACACCCTACCAACTCTGTCCCACCAACCCATACTCCCACAGTTTCTGCCCATTCCTCTGCATCTCCCTCAGTCTTCAATCTTCTTGAAAGAGTTGTCCTAACAGTCCTTACTTCTTCTCAACAGTCTCTCAACTGACTACCTTTCCCATCACTTCACAAAATAGGCAAATCCAAGGTTATTTTTCTGTCCT...
CATGCCCTCCTTTCTGCTGCGACTGAGGAACTGTCCTTGGACCGCCTGTGACCAAGCCTCCAGTGTTCTGGACTCAGCCTTCTTGCCTTCTGGAAGACTCTCGCAGATCACTCCCACACAATTTCAAACACACCCTACCAACTCTGTCCCACCAACCCATACTCCCACAGTTTCTGCCCATTCCTCTGCATCTCCCTCAGTCTTCAATCTTCTTGAAAGAGTTGTCCTAACAGTCCTTACTTCTTCTCAACAGTCTCTCAACTGACTACCTTTCCCATCACTTCACAAAATAGGCAAATCCAAGGTTATTTTTCTGTCCT...
Task1_train_34245
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
ATATCATGTTTCTGTGACTGCAGATATAAACAAAAATATTTATTTATTTATTTTATTAGTATTATTATTTTTTTGAGACAGAGTCTCACTCTGTTTGTTGCCCAGGCTGGCATTCAGTGGCACGATTTTGGCTCACTGCAGCCTCCGTCTCCTGGGTTAAGCGATTCTTGTGCCTTAGCCTCCCAAGTTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCAA...
ATATCATGTTTCTGTGACTGCAGATATAAACAAAAATATTTATTTATTTATTTTATTAGTATTATTATTTTTTTGAGACAGAGTCTCACTCTGTTTGTTGCCCAGGCTGGCATTCAGTGGCACGATTTTGGCTCACTGCAGCCTCCGTCTCCTGGGTTAAGCGATTCTTGTGCCTTAGCCTCCCAAGTTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCCTCGGCCTCCCAA...
Task1_train_34246
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TGAGAACAGCCTGGCCAGCATGGTAAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTGATCCCAGCTACTCGGTAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTACAGTGAGCCGAGATCGCACCACTGAACTCCAGCCTCGGTGACAGAGCAAGACTGCGTCTCACACACACACACAAAAAAGAAAACAAAAGAAAAGAAAAAAAGAAATAATAAAATATAGTCATAGTGACCTTTTTGTCACATCATGCCCGTGAACATCATGCTGCCTTTACCTGCAC...
TGAGAACAGCCTGGCCAGCATGGTAAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTGATCCCAGCTACTCGGTAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTACAGTGAGCCGAGATCGCACCACTGAACTCCAGCCTCGGTGACAGAGCAAGACTGCGTCTCACACACACACACAAAAAAGAAAACAAAAGAAAAGAAAAAAAGAAATAATAAAATATAGTCATAGTGACCTTTTTGTCACATCATGCCCGTGAACATCATGCTGCCTTTACCTGCAC...
Task1_train_34247
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CCGGTGCACAACACCATGCCTGGCTAACTTTTGTATTTTTTAGTAGAGATGGAGATTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGAACTCAACTCAAGCGGTTCTTGTGCCCCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACTTGGCCTGAATGGTTCTAACATTCACCAGGCTTGTGACCCAAGACCAAAGTGCCAAAATGATAGCTACTAACCTGTGATACCTTTTTTCACCTATCAGGTAGCAATACTGGGCATAGAAGAAAGAGCTTTTCTTGATACAGATTCCATCATAATGATACC...
CCGGTGCACAACACCATGCCTGGCTAACTTTTGTATTTTTTAGTAGAGATGGAGATTTGCCATGTTGCCCAGGCTGGTCTTGAACTACTGAACTCAACTCAAGCGGTTCTTGTGCCCCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACACTTGGCCTGAATGGTTCTAACATTCACCAGGCTTGTGACCCAAGACCAAAGTGCCAAAATGATAGCTACTAACCTGTGATACCTTTTTTCACCTATCAGGTAGCAATACTGGGCATAGAAGAAAGAGCTTTTCTTGATACAGATTCCATCATAATGATACC...
Task1_train_34248
A variant was discovered on Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Benign
TGTGTCATTTCTCCCGGGCTACATAGAAGATTTTATCTTTGTCACTGGTTTTAAACAATTTTATTATTATGTGTTTGTAGTTTGCTTTATGTTTCTTTTGCTTGGGGTTCATTGTGATATGGGGGCCTATGTATACATCATTTTTGTCACATCTTGAAAAACTTCAAATATGTTTTCTGTTTTCCACATTTTTCTTCTTCAGTGATTCATATTACATGTATTGAAGTTGTCCTAAGTAAAATAATTCCCTGCCCATTTTATTCTGTTATTTTTGTCTCTGTGCTTAATTTTGGATAATTTCTAATGCTGTGTCTTCAAGT...
TGTGTCATTTCTCCCGGGCTACATAGAAGATTTTATCTTTGTCACTGGTTTTAAACAATTTTATTATTATGTGTTTGTAGTTTGCTTTATGTTTCTTTTGCTTGGGGTTCATTGTGATATGGGGGCCTATGTATACATCATTTTTGTCACATCTTGAAAAACTTCAAATATGTTTTCTGTTTTCCACATTTTTCTTCTTCAGTGATTCATATTACATGTATTGAAGTTGTCCTAAGTAAAATAATTCCCTGCCCATTTTATTCTGTTATTTTTGTCTCTGTGCTTAATTTTGGATAATTTCTAATGCTGTGTCTTCAAGT...
Task1_train_34249
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
TGCCCCGCAGTGCCTGAGATTCCTGCTTGCAGCAGCACGCGTCTCACTTTGAGTGAGGATATGGTTAAGCCATTCACAGAAACAGGTGGCCAGTGATGTAGTGGTGGCTAAAGGACTGAAAGGTGGCGAGTGGTCATTTGAGCCTCACATCCCTGAGATGAACTGCTGGGTGTTTTCCATGGGTTTGAACAATGTAAATCAGGTCGTGCTTAAAGCTGATTTTATAAACCTCGACCCTACTTGCCCCCTCCCCTCCCTAAATATAATGGAAGTTTTAGTGTACTTTTCCCACTTGATAGGAAGGTGGCTTTGGACAGTTC...
TGCCCCGCAGTGCCTGAGATTCCTGCTTGCAGCAGCACGCGTCTCACTTTGAGTGAGGATATGGTTAAGCCATTCACAGAAACAGGTGGCCAGTGATGTAGTGGTGGCTAAAGGACTGAAAGGTGGCGAGTGGTCATTTGAGCCTCACATCCCTGAGATGAACTGCTGGGTGTTTTCCATGGGTTTGAACAATGTAAATCAGGTCGTGCTTAAAGCTGATTTTATAAACCTCGACCCTACTTGCCCCCTCCCCTCCCTAAATATAATGGAAGTTTTAGTGTACTTTTCCCACTTGATAGGAAGGTGGCTTTGGACAGTTC...
Task1_train_34250
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
CCGATGTCAAGACCATTTAGAACTGAAAGTGTCCCAATATCGGGGTACAGGCAATAAGCATTAGTTATTAATCAGCCTGAGAAGTTGATTCTAAAATAGGAGGAAATGATTCAATTATTTCCTCTCAAGGGATTACTCAATGTTGTTTTTATGTTTAAATATTTATTTGTCAACATCAAGAATTCTTAGTACATGATGCACCAGCATTTTTGAACAAGTCATAGATTTGGCCACAAATCAAATTTCAGGATGGGAGGAGTGTCTCCCCTTTAAAATAGAAGAGAGTGAGTAGTCTATGAGGAGGGACCTACAAAGACTGG...
CCGATGTCAAGACCATTTAGAACTGAAAGTGTCCCAATATCGGGGTACAGGCAATAAGCATTAGTTATTAATCAGCCTGAGAAGTTGATTCTAAAATAGGAGGAAATGATTCAATTATTTCCTCTCAAGGGATTACTCAATGTTGTTTTTATGTTTAAATATTTATTTGTCAACATCAAGAATTCTTAGTACATGATGCACCAGCATTTTTGAACAAGTCATAGATTTGGCCACAAATCAAATTTCAGGATGGGAGGAGTGTCTCCCCTTTAAAATAGAAGAGAGTGAGTAGTCTATGAGGAGGGACCTACAAAGACTGG...
Task1_train_34251
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
CTTAGCAAACCATCATCCCTACTTTATTCCCTTGGTCCCCCACCAGGATAACTCTGCCACTTCTTAATTCTGTCCATAAGATTTGAAAGAGGACTTAAAAATTGATGAGTTTTGTTCTGGTAGCCATAGGCACTAGCTGAAATACCTTAAAAGTACTCAGAGAGTCTTCATGACTTTCTTTATGTTGGTGAAACATTTGCAAATTTATATTCTCACCAGAACAAAAAGAACTATAGCTTCTGTTCCTTAATATTCCTACCCAATTTTATATACTTTTGACAGTTTTATCACAACTCCTGTGTTTGCAGTAGTTATTTTTC...
CTTAGCAAACCATCATCCCTACTTTATTCCCTTGGTCCCCCACCAGGATAACTCTGCCACTTCTTAATTCTGTCCATAAGATTTGAAAGAGGACTTAAAAATTGATGAGTTTTGTTCTGGTAGCCATAGGCACTAGCTGAAATACCTTAAAAGTACTCAGAGAGTCTTCATGACTTTCTTTATGTTGGTGAAACATTTGCAAATTTATATTCTCACCAGAACAAAAAGAACTATAGCTTCTGTTCCTTAATATTCCTACCCAATTTTATATACTTTTGACAGTTTTATCACAACTCCTGTGTTTGCAGTAGTTATTTTTC...
Task1_train_34252
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
ACCCTCCTTGTGAACTCTTCTCTAATTTCTCACAGACCAGGAAGGGTTTGGAATATAACTGGGGCTCAGCTATCAAGGGCCTAAGCATAATAAAGTAAATGTTCAGTTTTACATTTTAAACTCATTTTACTAAGAAGAGGAATTCACATGCCTATAGATGTAAAGGTATGAACAACAGGTGACTTTGGTTTACCCTGGAATATCTGGGAATGCTAATAGCCTCAATAACGGCTCAAGAGACTTGTGAAAGATACAATTTAGGAGAATCTAATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCC...
ACCCTCCTTGTGAACTCTTCTCTAATTTCTCACAGACCAGGAAGGGTTTGGAATATAACTGGGGCTCAGCTATCAAGGGCCTAAGCATAATAAAGTAAATGTTCAGTTTTACATTTTAAACTCATTTTACTAAGAAGAGGAATTCACATGCCTATAGATGTAAAGGTATGAACAACAGGTGACTTTGGTTTACCCTGGAATATCTGGGAATGCTAATAGCCTCAATAACGGCTCAAGAGACTTGTGAAAGATACAATTTAGGAGAATCTAATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCC...
Task1_train_34253
This mutation occurs on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Benign
AGGGTCTGTCCACTGATGGAGCACTCAACAGGAAAGGTTGGAGTGAAAGAACAGGGTTTGGGGGCAGAAGCCTCCAGGCCATTGTTTCCTTAGCTAGTGCTTCAAGCACCAAGGATCCAGAGGAACTGGTCCCAGGCCTTGTTGTAGAGAACATGTTAAAGGAGAGTCAGGGAAAAAAAATGGACAGATATATAGATATATTAATTAATGTTTTCTTTATTGAAAGAAGTTGGTCTCCTTTGGCCAATTTCCAAGTTAGCTTCTTAGTATAATTTGGTCACATTTTAGAAAAACATTATTGAACAGGATATTTTAAGATT...
AGGGTCTGTCCACTGATGGAGCACTCAACAGGAAAGGTTGGAGTGAAAGAACAGGGTTTGGGGGCAGAAGCCTCCAGGCCATTGTTTCCTTAGCTAGTGCTTCAAGCACCAAGGATCCAGAGGAACTGGTCCCAGGCCTTGTTGTAGAGAACATGTTAAAGGAGAGTCAGGGAAAAAAAATGGACAGATATATAGATATATTAATTAATGTTTTCTTTATTGAAAGAAGTTGGTCTCCTTTGGCCAATTTCCAAGTTAGCTTCTTAGTATAATTTGGTCACATTTTAGAAAAACATTATTGAACAGGATATTTTAAGATT...
Task1_train_34254
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
TGTATATGAAACTTGTTTAGACAAGAAATGGCACATCAAAATATTTCCGTTGATCAACAGAATGCTTGTGTTTGCAGGCGTGAAACTAAAAATAAAGGAAATGATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCACAATCTTGGCTCACCGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTACCTCAGCCTCCCGAATAGCTGGGACTGCAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCT...
TGTATATGAAACTTGTTTAGACAAGAAATGGCACATCAAAATATTTCCGTTGATCAACAGAATGCTTGTGTTTGCAGGCGTGAAACTAAAAATAAAGGAAATGATTCTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGAGCAGTGGCACAATCTTGGCTCACCGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTACCTCAGCCTCCCGAATAGCTGGGACTGCAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGAATGGTCT...
Task1_train_34255
Consider this mutation on Chromosome 2. Is this a benign change or a disease-causing variant?
Benign
TATAGCAGCCCCACAGTTATCCAAGATGTTACCATTAGGGAAAACTGGGTGAAGGACACACAGAATTTCACCATAGTATTTATTATTATAACTCCATGTGAATTTACACTTATCCATGTGAATTTACACTTATCAAATAAAGTTAAACAAACAGACTTACAATTTCTTTTAAAAAATTAAAACTTAAAAATGTATACTTAAAATTTGCTAAGAGGGCAGATCTTAGGTGAAGTATTCTTACCACCAAAACAAAATGATAATACTAGAAAAATGGCAGGAGAGAGCTTTGGCAGGGGGAGTGGGATATGTTTTTGGCCTTG...
TATAGCAGCCCCACAGTTATCCAAGATGTTACCATTAGGGAAAACTGGGTGAAGGACACACAGAATTTCACCATAGTATTTATTATTATAACTCCATGTGAATTTACACTTATCCATGTGAATTTACACTTATCAAATAAAGTTAAACAAACAGACTTACAATTTCTTTTAAAAAATTAAAACTTAAAAATGTATACTTAAAATTTGCTAAGAGGGCAGATCTTAGGTGAAGTATTCTTACCACCAAAACAAAATGATAATACTAGAAAAATGGCAGGAGAGAGCTTTGGCAGGGGGAGTGGGATATGTTTTTGGCCTTG...
Task1_train_34256
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
CCACCATTTGGGTATCTAACAAACACAGGCTCACAAAAGGGATTTTGGCATATCTGACAAAGCTTTTTGTCTGAGAGTTGGATTGAGCTTCCTTTCAACTTCATCTGCAAGAAGAAACCAAGACTGAGAATGCTGTCATGTGTTAAGTATATTTAAAGTGGCTACGTTCTAGTTTTGCAGAGTTGACATGCATTACTCCATGGGTTATTATTATGATGAGGATTTCTTTAATATCAACTTCTTGAAATGAAATGCTAAAGGTGTAAATAAAACCATCCTTAGTAACTGGACAAGGAAGAAAGTTACACAATTGCTTTTCT...
CCACCATTTGGGTATCTAACAAACACAGGCTCACAAAAGGGATTTTGGCATATCTGACAAAGCTTTTTGTCTGAGAGTTGGATTGAGCTTCCTTTCAACTTCATCTGCAAGAAGAAACCAAGACTGAGAATGCTGTCATGTGTTAAGTATATTTAAAGTGGCTACGTTCTAGTTTTGCAGAGTTGACATGCATTACTCCATGGGTTATTATTATGATGAGGATTTCTTTAATATCAACTTCTTGAAATGAAATGCTAAAGGTGTAAATAAAACCATCCTTAGTAACTGGACAAGGAAGAAAGTTACACAATTGCTTTTCT...
Task1_train_34257
A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
TAATCTCAAACCCCCCAAGGCCATTTGTCCCATCTTGGGTGGCTGTCTATCTGGGCGTTAGAAACCTTACTTCATGCCCTAACCTATGGCCCAGTGGCCCCTCAAAGCATTGGCTCTCCTCCCACAAGTTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCTTTTTCTTTCTTCCTTTCTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTCTTTCTTCTTTCTTTTTTATTTTCTTTTCTTTCTTCTTTCCTTCTTTCTTTTCTTTCTTTCTTCTTTCTCTTTCCTTTTTCTT...
TAATCTCAAACCCCCCAAGGCCATTTGTCCCATCTTGGGTGGCTGTCTATCTGGGCGTTAGAAACCTTACTTCATGCCCTAACCTATGGCCCAGTGGCCCCTCAAAGCATTGGCTCTCCTCCCACAAGTTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCTTTTTCTTTCTTCCTTTCTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTCTTTCTTCTTTCTTTTTTATTTTCTTTTCTTTCTTCTTTCCTTCTTTCTTTTCTTTCTTTCTTCTTTCTCTTTCCTTTTTCTT...
Task1_train_34258
With a mutation on Chromosome 2, classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Benign
AGCATCCCACTACATTTTAAAAAACAAACCAACAAGGGTGTCATGCCACCAGTCAAAAGGTACTTTGCTTAAACTGGCATTCTTTGACATGCATGTTGTAGTGGTAAGTACTTCATTTCATACAGCCACAGTTATTAATACTTTGCTAAGGGCTACCCAGCTGCTAAAAACTGCTGTTATCTCATACTGAGAATGCTAGTTCTATACCTTTGCTCTCAGGCTGTGAGGAAGGGGTGCTAGTCCAAAAGGCTATGGGATTAGATTTAAAAAGGCTAAAATTAAATCCTAGAAAATAAAGAATATTTCATTTTTTAACATTT...
AGCATCCCACTACATTTTAAAAAACAAACCAACAAGGGTGTCATGCCACCAGTCAAAAGGTACTTTGCTTAAACTGGCATTCTTTGACATGCATGTTGTAGTGGTAAGTACTTCATTTCATACAGCCACAGTTATTAATACTTTGCTAAGGGCTACCCAGCTGCTAAAAACTGCTGTTATCTCATACTGAGAATGCTAGTTCTATACCTTTGCTCTCAGGCTGTGAGGAAGGGGTGCTAGTCCAAAAGGCTATGGGATTAGATTTAAAAAGGCTAAAATTAAATCCTAGAAAATAAAGAATATTTCATTTTTTAACATTT...
Task1_train_34259
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
GACTACTGGAATCGGATTTGAAGACCAGCCTCTTCCACCAGCCATTGCTTTCCTTCCCTAGGAGCTGCCTTTGTCCCACCTGCCGCCCTCGACCCCATCTGGGTCCCAGGAGTTGACAGAGTCACATAGCACTCTTGGGGCCCACTAAGCTGAGAAAGCGCCTGTACTTACCCTGGGCTGGGCTGGGACCTTTAGTGGTGGCCATTTAGTCACCACCTTTGCAAGTTGCTTTTCCCTGGTAGGGCAGTGACATTAGGTCCTGGGTCTTTCATGAGGCTGTTGGAAGCCATCCTGGGCCAGGGCAGCATTCCTGCATTTGA...
GACTACTGGAATCGGATTTGAAGACCAGCCTCTTCCACCAGCCATTGCTTTCCTTCCCTAGGAGCTGCCTTTGTCCCACCTGCCGCCCTCGACCCCATCTGGGTCCCAGGAGTTGACAGAGTCACATAGCACTCTTGGGGCCCACTAAGCTGAGAAAGCGCCTGTACTTACCCTGGGCTGGGCTGGGACCTTTAGTGGTGGCCATTTAGTCACCACCTTTGCAAGTTGCTTTTCCCTGGTAGGGCAGTGACATTAGGTCCTGGGTCTTTCATGAGGCTGTTGGAAGCCATCCTGGGCCAGGGCAGCATTCCTGCATTTGA...
Task1_train_34260
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
TTGTGTTTTTATGGCTAGCAATAAACTTGTTTCAGCCCTATTGCATAAAATTCAACAGATTTAGAAGCAGAGGCCAAAGAGGAACACACTCAAGAAGAGCCTGGAACAGGCCCCATTTAAATAAAAATGAGCTGTGGATTCACAAAGTTGAGATTTTCGTGCCATCACCTTCAATTTATTTCAAAAGGTCTTCCAACTACTTGAAAGGTAATGTAGCCCTATCACAATGAAACAATTCTGAGTTTAATCAGTCAACCCTTTAGTGTAACTAGAAATTTCTGAATATTTAGATATTCTACATTTCCCCCACCCGGCTGCCC...
TTGTGTTTTTATGGCTAGCAATAAACTTGTTTCAGCCCTATTGCATAAAATTCAACAGATTTAGAAGCAGAGGCCAAAGAGGAACACACTCAAGAAGAGCCTGGAACAGGCCCCATTTAAATAAAAATGAGCTGTGGATTCACAAAGTTGAGATTTTCGTGCCATCACCTTCAATTTATTTCAAAAGGTCTTCCAACTACTTGAAAGGTAATGTAGCCCTATCACAATGAAACAATTCTGAGTTTAATCAGTCAACCCTTTAGTGTAACTAGAAATTTCTGAATATTTAGATATTCTACATTTCCCCCACCCGGCTGCCC...
Task1_train_34261
A variant on Chromosome 2 is under investigation. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Benign
ACAGGGTCTCGCTGTGTCACCTGGGCTGGAGTGTAGTGGCGTGATCGTAGGTCACTGCTGCCTTGAACTTCTGGGCTCAAGGGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGTACCATAGGCACATGCCACTCGGCCCAGATAATTTTTTTTTTTAATTGGTAGAGACAGGGTCTCCCTTTGTTGCCCAGGCTAGTCTCCAACTCCTAGGCTCAAGTGATCCTCCTGCCTAAGCCCCCCAAAGTGTTGGGATTAAGCCTGACACAGTGGCTCATATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCAC...
ACAGGGTCTCGCTGTGTCACCTGGGCTGGAGTGTAGTGGCGTGATCGTAGGTCACTGCTGCCTTGAACTTCTGGGCTCAAGGGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGTACCATAGGCACATGCCACTCGGCCCAGATAATTTTTTTTTTTAATTGGTAGAGACAGGGTCTCCCTTTGTTGCCCAGGCTAGTCTCCAACTCCTAGGCTCAAGTGATCCTCCTGCCTAAGCCCCCCAAAGTGTTGGGATTAAGCCTGACACAGTGGCTCATATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCAC...
Task1_train_34262
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
TATTAGAGCCGCACAGTTTAGAGTCAGTAGTCAATTAAAGTCCCTACTTAAACTTCAGACTAAGATTTTTTTTTTATTTAATATTTTATTTTTTTCTTTTTGCTTTCATGCAGACAGACATCTTGCAAGACTTTAAGATTCTTGGGCCATTTCTGTCAGGTTGTTCTGTGTTCTGTGCCTGCTTCCTCCCCATAGTAATTTCAAAATAGCTATCCTCACCTCTGTAAGGTTTCCAAAATCAAACTTGGGCTTCTGGCTAGCCTTTTCTGGGTCTTGATTTTTCAGTGCTTTCCAGAGGCAATTGTTTGGAACCTCTTGGC...
TATTAGAGCCGCACAGTTTAGAGTCAGTAGTCAATTAAAGTCCCTACTTAAACTTCAGACTAAGATTTTTTTTTTATTTAATATTTTATTTTTTTCTTTTTGCTTTCATGCAGACAGACATCTTGCAAGACTTTAAGATTCTTGGGCCATTTCTGTCAGGTTGTTCTGTGTTCTGTGCCTGCTTCCTCCCCATAGTAATTTCAAAATAGCTATCCTCACCTCTGTAAGGTTTCCAAAATCAAACTTGGGCTTCTGGCTAGCCTTTTCTGGGTCTTGATTTTTCAGTGCTTTCCAGAGGCAATTGTTTGGAACCTCTTGGC...
Task1_train_34263
This variant is present on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Benign
GAACTGTAATGCCCTTGCTGACCCACTATGTGGTAAGTACTTTCAGGCCTGATACAGCTATATATATAACAATTGATTGAAGACTCAATATTACAGTGGTAGTTGAATGTGACAGCTTTGAGGATAGAGTGTTGGGGTGCATTTAGACCCTTGCTCTTCTGCTTATTTTGACCACAGGCAAGTTTCTTAACCTCTCAATGCATCAGTTGCCTCATATGTAAAATGAGGATAATAATAATACCTTAATTCATAGGGTTTTTGAGGATATTAAAATGAGATAATAATGTAAAGTGCTTAGAACAGTGCCCAGCTGGCACATT...
GAACTGTAATGCCCTTGCTGACCCACTATGTGGTAAGTACTTTCAGGCCTGATACAGCTATATATATAACAATTGATTGAAGACTCAATATTACAGTGGTAGTTGAATGTGACAGCTTTGAGGATAGAGTGTTGGGGTGCATTTAGACCCTTGCTCTTCTGCTTATTTTGACCACAGGCAAGTTTCTTAACCTCTCAATGCATCAGTTGCCTCATATGTAAAATGAGGATAATAATAATACCTTAATTCATAGGGTTTTTGAGGATATTAAAATGAGATAATAATGTAAAGTGCTTAGAACAGTGCCCAGCTGGCACATT...
Task1_train_34264
A mutation is present on Chromosome 2. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Benign
GCCTCCCCAGCAGCTGGGATTACAGGCACCTGCCACCGTGCCTGGCTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTTGCTGACCTCGTGATCCACCCACCTTAGCCTCCCAAACTGCTAGGATTACAGATTTGAGCCACCACGCCCGGCCTTGATGACTAAATTTTAAGAAATGTTTTAGCAATTCCTCATACACCTTTCACTTATCTTATAGTTACTTAATTCCTCTACTCTTATCATTTGATATTTTCATTTTATTGTGTACCTCTGTAAGGCCGAATCAATAGATT...
GCCTCCCCAGCAGCTGGGATTACAGGCACCTGCCACCGTGCCTGGCTAATTTTTGCATTTTTAGTAGAGATAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTTGCTGACCTCGTGATCCACCCACCTTAGCCTCCCAAACTGCTAGGATTACAGATTTGAGCCACCACGCCCGGCCTTGATGACTAAATTTTAAGAAATGTTTTAGCAATTCCTCATACACCTTTCACTTATCTTATAGTTACTTAATTCCTCTACTCTTATCATTTGATATTTTCATTTTATTGTGTACCTCTGTAAGGCCGAATCAATAGATT...
Task1_train_34265
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
AACTGAAGAACTAGGAGTCTGATGTTCAAGGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGTTGGGAGGCTAGGCCAGTCTCGCCTTTTCAGGTTTTTCTGCCTGCTTTATATTCACTGGCAGCTGATTAGATGGCACCTACCAGGTTAAGGGTGGGTCTGCCTTCCCCAGCCCACTGACTCAAATGTTAATCTCCTTTGGCAACACCCTCACAGACAACACTCAGGATTAATACTTTGCATCCTTTAATCCAATCAAGTTGACACCCAGTATTAACCATCACACTGTCCAAATGGAAAAATTATTAAACAAATCT...
AACTGAAGAACTAGGAGTCTGATGTTCAAGGGCAGGAAGCATCCAGCACAGGAGAAAGATGTAGGTTGGGAGGCTAGGCCAGTCTCGCCTTTTCAGGTTTTTCTGCCTGCTTTATATTCACTGGCAGCTGATTAGATGGCACCTACCAGGTTAAGGGTGGGTCTGCCTTCCCCAGCCCACTGACTCAAATGTTAATCTCCTTTGGCAACACCCTCACAGACAACACTCAGGATTAATACTTTGCATCCTTTAATCCAATCAAGTTGACACCCAGTATTAACCATCACACTGTCCAAATGGAAAAATTATTAAACAAATCT...
Task1_train_34266
A variant was discovered on Chromosome 2. What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Benign
AGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATGACGAATGATCACTAATGAGCTTTGTGCTTGTAAGACCATCAGACCATTTACTTTATGCAGTAAAACATTGACGTGTTAGCAATTCCAGTTGCCTGGTAGAAAGATAAAGTCTCAAGTT...
AGGTTGTGTTCTCACTCATGGATCTGACACAAAATATACAAACAAGGAGAGCAAATACTGTTATAGAAGAGACTAAATTCAATTATAAAGGGGACTTTTAAATCTTAGTAAGTAGCCAAGCCCTCACTTCTATATCACAATAGTTGCAATGATTCAGTCACCAATTTTCTTTTTGGACAAGGGACAGTAGACTTACACAATGACGAATGATCACTAATGAGCTTTGTGCTTGTAAGACCATCAGACCATTTACTTTATGCAGTAAAACATTGACGTGTTAGCAATTCCAGTTGCCTGGTAGAAAGATAAAGTCTCAAGTT...
Task1_train_34267
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
GAAAAATCAAAATGAAGTGACTTCCACAACATGACCTGAATAAAAACAGATATCTGTGGAAAAGTCAATAAATAATAATTTCCATCAAGCATGTCTCTCCAGTGAATCAAGAGAGATAACCTCATTAGAACATTTTCTCTAGAAACATAAATTAAAAAGGACTGACAGATGGAAATAAGAAAAATAGCAAATCTAGATAGGACTCCAGGTGAATAGATTTCCAATATTTATGCAGAGAAGTTTTGAGAGCAGGAAAAGTAGGAGGAAGCAGAGGAAGACAGGATCCAAGCTTCTTTTCTTATATGATTTTTTCCAAGGCC...
GAAAAATCAAAATGAAGTGACTTCCACAACATGACCTGAATAAAAACAGATATCTGTGGAAAAGTCAATAAATAATAATTTCCATCAAGCATGTCTCTCCAGTGAATCAAGAGAGATAACCTCATTAGAACATTTTCTCTAGAAACATAAATTAAAAAGGACTGACAGATGGAAATAAGAAAAATAGCAAATCTAGATAGGACTCCAGGTGAATAGATTTCCAATATTTATGCAGAGAAGTTTTGAGAGCAGGAAAAGTAGGAGGAAGCAGAGGAAGACAGGATCCAAGCTTCTTTTCTTATATGATTTTTTCCAAGGCC...
Task1_train_34268
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
CAGATATCTGTGGAAAAGTCAATAAATAATAATTTCCATCAAGCATGTCTCTCCAGTGAATCAAGAGAGATAACCTCATTAGAACATTTTCTCTAGAAACATAAATTAAAAAGGACTGACAGATGGAAATAAGAAAAATAGCAAATCTAGATAGGACTCCAGGTGAATAGATTTCCAATATTTATGCAGAGAAGTTTTGAGAGCAGGAAAAGTAGGAGGAAGCAGAGGAAGACAGGATCCAAGCTTCTTTTCTTATATGATTTTTTCCAAGGCCTACATTTTGTTACTGTTTTTTTGTGTCAACTTGGCTGGATTGTGAC...
CAGATATCTGTGGAAAAGTCAATAAATAATAATTTCCATCAAGCATGTCTCTCCAGTGAATCAAGAGAGATAACCTCATTAGAACATTTTCTCTAGAAACATAAATTAAAAAGGACTGACAGATGGAAATAAGAAAAATAGCAAATCTAGATAGGACTCCAGGTGAATAGATTTCCAATATTTATGCAGAGAAGTTTTGAGAGCAGGAAAAGTAGGAGGAAGCAGAGGAAGACAGGATCCAAGCTTCTTTTCTTATATGATTTTTTCCAAGGCCTACATTTTGTTACTGTTTTTTTGTGTCAACTTGGCTGGATTGTGAC...
Task1_train_34269
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
TATAAATCTCGGCTTTACACCATATAGACAAATTTTATTACTAGAAAATTATTTCCACTTCGTTAAGGAACCAGAACGATAGTTACAGAAGCTTATTTCAAAGGAGCACTAATTTACTTTATAGCCTTGGGTTTTGTCCCAGTACTGGGAACTAACAGTGCTCTGACTTCTTCCAGTTGTTGGCGGGTCCTGGTTTGACCATGTGAAAGGATGGTGGGCTGCAAAAGACATGCACCGGATCCTCTACCTCTTCTACGAGGATATTAAAAAAGTAAGTGGCACTGAGACTTATAGGTCAGACCCAGAAACCCTCCTGACAA...
TATAAATCTCGGCTTTACACCATATAGACAAATTTTATTACTAGAAAATTATTTCCACTTCGTTAAGGAACCAGAACGATAGTTACAGAAGCTTATTTCAAAGGAGCACTAATTTACTTTATAGCCTTGGGTTTTGTCCCAGTACTGGGAACTAACAGTGCTCTGACTTCTTCCAGTTGTTGGCGGGTCCTGGTTTGACCATGTGAAAGGATGGTGGGCTGCAAAAGACATGCACCGGATCCTCTACCTCTTCTACGAGGATATTAAAAAAGTAAGTGGCACTGAGACTTATAGGTCAGACCCAGAAACCCTCCTGACAA...
Task1_train_34270
Assess the clinical impact of this variant found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Benign
CATCTTCCCTGGATCTATTTTCAATCCCAGTCAGTCATCTTTGGGTCCAGAAGCATATCCTCCCCCATCTCCCAGCCCTCCCCCTCTAGCACACAACGCACTGGAGAAAACTGCTAAGGCATTGCTGAATATCTACCACTCTACTCTGATGGCACACAGGGCCAAAAAGATTATAGAATAAAATCTAACTGAAAAATTATAGGTGATTTTTATAAGTCTGTTTAAATGCATATGCATCCCAGGCATTCCACCTGGCAGTCTCTGTCTCAAGGGCCCATCCACCTCACCATGGTCTGGAGGGAGGGGATGAGGAATAGGGA...
CATCTTCCCTGGATCTATTTTCAATCCCAGTCAGTCATCTTTGGGTCCAGAAGCATATCCTCCCCCATCTCCCAGCCCTCCCCCTCTAGCACACAACGCACTGGAGAAAACTGCTAAGGCATTGCTGAATATCTACCACTCTACTCTGATGGCACACAGGGCCAAAAAGATTATAGAATAAAATCTAACTGAAAAATTATAGGTGATTTTTATAAGTCTGTTTAAATGCATATGCATCCCAGGCATTCCACCTGGCAGTCTCTGTCTCAAGGGCCCATCCACCTCACCATGGTCTGGAGGGAGGGGATGAGGAATAGGGA...
Task1_train_34271
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
ACTATCTCTGGTGTGTCTGGTATTGTATGCATTGTATTTAGGTGATTGAGAGAGATTGAAGAAGGTGGTCTGGGGAGATGGTAACTACAGGGTATGTAGGATACAGTGCTGGGTTAAAAGAAGTTGCCGTTCTGTAAGGAAGATACTATTTACTATGGGGAAAAAATATAAAAACAGTGGAAGCTAAGGTAAAATAAAGATCTAAGTTGGATATTATTTAATGCTAAAAATATGTGGCAGAAAGAAATGCTATGGGTATCAAGAAGGAGTAAGCATTTTGAAATAAAGATGTATCCATATATAACATGAAATGTTGAAAT...
ACTATCTCTGGTGTGTCTGGTATTGTATGCATTGTATTTAGGTGATTGAGAGAGATTGAAGAAGGTGGTCTGGGGAGATGGTAACTACAGGGTATGTAGGATACAGTGCTGGGTTAAAAGAAGTTGCCGTTCTGTAAGGAAGATACTATTTACTATGGGGAAAAAATATAAAAACAGTGGAAGCTAAGGTAAAATAAAGATCTAAGTTGGATATTATTTAATGCTAAAAATATGTGGCAGAAAGAAATGCTATGGGTATCAAGAAGGAGTAAGCATTTTGAAATAAAGATGTATCCATATATAACATGAAATGTTGAAAT...
Task1_train_34272
Here is a variant on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Benign
GAGAGATTGAAGAAGGTGGTCTGGGGAGATGGTAACTACAGGGTATGTAGGATACAGTGCTGGGTTAAAAGAAGTTGCCGTTCTGTAAGGAAGATACTATTTACTATGGGGAAAAAATATAAAAACAGTGGAAGCTAAGGTAAAATAAAGATCTAAGTTGGATATTATTTAATGCTAAAAATATGTGGCAGAAAGAAATGCTATGGGTATCAAGAAGGAGTAAGCATTTTGAAATAAAGATGTATCCATATATAACATGAAATGTTGAAATAATTGTGGAGAGAAAAAATAATTATGCCTAAAGTATCTGTATGTTACAT...
GAGAGATTGAAGAAGGTGGTCTGGGGAGATGGTAACTACAGGGTATGTAGGATACAGTGCTGGGTTAAAAGAAGTTGCCGTTCTGTAAGGAAGATACTATTTACTATGGGGAAAAAATATAAAAACAGTGGAAGCTAAGGTAAAATAAAGATCTAAGTTGGATATTATTTAATGCTAAAAATATGTGGCAGAAAGAAATGCTATGGGTATCAAGAAGGAGTAAGCATTTTGAAATAAAGATGTATCCATATATAACATGAAATGTTGAAATAATTGTGGAGAGAAAAAATAATTATGCCTAAAGTATCTGTATGTTACAT...
Task1_train_34273
This genomic variant is located on Chromosome 2. Can you determine its pathogenicity and name any linked disease?
Benign
TGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTG...
TGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTG...
Task1_train_34274
A genomic change on Chromosome 2 is noted. Classify this variant as benign or pathogenic, and name the disease if relevant.
Benign
GTAAAATGAGTTTAAAATAATTATCACAGGTTGGGCACCGTGGCTGGCGCCTGTACTCCCAGCACTTTGTGAAGATGAGGTTGGAGGATCTCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAAGGAGACCCTGTCGCTACAAAAAATTTAAATTAAAAATTTAGCCAGGCGTGGTGGCGCACCTGTAGTTTCAACTATTCAGGAGGCTGAGGTGAAAGGATGGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCCGTGATAGCACCCCGCGCTCTAGCCTGCCTGACAGAACGAGATCCTGTCTAAAGCTAT...
GTAAAATGAGTTTAAAATAATTATCACAGGTTGGGCACCGTGGCTGGCGCCTGTACTCCCAGCACTTTGTGAAGATGAGGTTGGAGGATCTCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAAGGAGACCCTGTCGCTACAAAAAATTTAAATTAAAAATTTAGCCAGGCGTGGTGGCGCACCTGTAGTTTCAACTATTCAGGAGGCTGAGGTGAAAGGATGGCTTGAGCCCAAGAGTTTGAGGCTGCAGTGAGCCGTGATAGCACCCCGCGCTCTAGCCTGCCTGACAGAACGAGATCCTGTCTAAAGCTAT...
Task1_train_34275
A mutation located on Chromosome 2 is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Benign
TGTGTCTTGGAAGTAACTAACTTGCTTTTTGATTTTACAGGCTCATAGGCAGAAGAGACTTCTCTTGTCTTAGATGAGACTTTGGACTTAAACTTTTGGGTTAATGCTGGAATAAGTTGAAACTTTGGGGGACTGTTGAGAAGGCATGATTGTATTTTTAAATGTGAGAAGGATGAGATTTGGGAGGGGCCAGTGGTATAATGATATGGTTTGGCTCTTTGTCCCCACCCAAATCTCATCTCCTATTGTAATCCACATGTATCAAGGGAGGGACCTGGTGGGAGGTGATTGGATCATGGGGGCAGTTTCCCCTATGCTGT...
TGTGTCTTGGAAGTAACTAACTTGCTTTTTGATTTTACAGGCTCATAGGCAGAAGAGACTTCTCTTGTCTTAGATGAGACTTTGGACTTAAACTTTTGGGTTAATGCTGGAATAAGTTGAAACTTTGGGGGACTGTTGAGAAGGCATGATTGTATTTTTAAATGTGAGAAGGATGAGATTTGGGAGGGGCCAGTGGTATAATGATATGGTTTGGCTCTTTGTCCCCACCCAAATCTCATCTCCTATTGTAATCCACATGTATCAAGGGAGGGACCTGGTGGGAGGTGATTGGATCATGGGGGCAGTTTCCCCTATGCTGT...
Task1_train_34276
This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Benign
TTAAAACCTATTCTTCTCTAGAACATGAAGAGCTCCTTCATGTTTAGAAAGTGGTTAAGAACTAGAATATAATAAAATAAAATTTCCAACTAAAAAAAAATATTGTCAAATTACCATCTTATAACCTGCATTTTAAATTTAACGATGTAGTGTGAACTTTTTTTAACCAATAAATCTAATCGCGTCATCATTTAAAAAAAGAAAAAAAAAAGAACTAGACTATAAGAACTGGGGTAAAAACACCCAGATTGGTGTCCAGGAAGAAAGGGCTGATACCAGGTTTGGAGAGGGAGGTTGAGCCTGGATGTTACCACACCAGA...
TTAAAACCTATTCTTCTCTAGAACATGAAGAGCTCCTTCATGTTTAGAAAGTGGTTAAGAACTAGAATATAATAAAATAAAATTTCCAACTAAAAAAAAATATTGTCAAATTACCATCTTATAACCTGCATTTTAAATTTAACGATGTAGTGTGAACTTTTTTTAACCAATAAATCTAATCGCGTCATCATTTAAAAAAAGAAAAAAAAAAGAACTAGACTATAAGAACTGGGGTAAAAACACCCAGATTGGTGTCCAGGAAGAAAGGGCTGATACCAGGTTTGGAGAGGGAGGTTGAGCCTGGATGTTACCACACCAGA...
Task1_train_34277
Here is a mutation located on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Benign
CCAGGGAGGGCAGCACAAAATCCCTCTGACCTCCGTGTCCCAGGACCTCAGCCTGGCTGGGCCAGGGTCAGGGGCCAACCCACGGGCCTCCCTCCCCTCTCTCTTCTGGATCCCTGCTGAGACCAGCAACAAAGGGGTCAATTGTCTGAGGCCTCCTTTTGTCTAAGGGGCTCCATGAGCCTCTCTGAATGCCAAAGTGTATCCATGCATGTGGATGAGTGTGTGTATGCACCTATATATGAGTGTGCATGTGTGCACATGCGGTGGTACACGTGTGTGCATGTATGTGTACTTGCATATGCATGCATGTATGCACATGT...
CCAGGGAGGGCAGCACAAAATCCCTCTGACCTCCGTGTCCCAGGACCTCAGCCTGGCTGGGCCAGGGTCAGGGGCCAACCCACGGGCCTCCCTCCCCTCTCTCTTCTGGATCCCTGCTGAGACCAGCAACAAAGGGGTCAATTGTCTGAGGCCTCCTTTTGTCTAAGGGGCTCCATGAGCCTCTCTGAATGCCAAAGTGTATCCATGCATGTGGATGAGTGTGTGTATGCACCTATATATGAGTGTGCATGTGTGCACATGCGGTGGTACACGTGTGTGCATGTATGTGTACTTGCATATGCATGCATGTATGCACATGT...
Task1_train_34278
Chromosome 2 houses a mutation. Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Benign
GAGTAGTATGCTGTGCTTGTGTATGGGAAAACTCCACATTGCCATAATGTTCATCCTCCTGAAATTAGCCTATAGATTCAGCACCATTTCAAGCAAAATCTTGGCAGGAATGTTTGTAGAAACTCATAAGCTGATTTGACAATCACATGGAAATGTGAATGGCCTAAAATAGCCCAAACAACTTCAAAAAACATTGAAGAAATGTAGAGGGATTGTACTACCTGATTTCAAAGCTTGTGCTAATGCTTCAATAATACAGACATGGTACTGGCATCAGAATAAGCAGAGAGATCAATGGAACACTACAGAGTCCAGAAATT...
GAGTAGTATGCTGTGCTTGTGTATGGGAAAACTCCACATTGCCATAATGTTCATCCTCCTGAAATTAGCCTATAGATTCAGCACCATTTCAAGCAAAATCTTGGCAGGAATGTTTGTAGAAACTCATAAGCTGATTTGACAATCACATGGAAATGTGAATGGCCTAAAATAGCCCAAACAACTTCAAAAAACATTGAAGAAATGTAGAGGGATTGTACTACCTGATTTCAAAGCTTGTGCTAATGCTTCAATAATACAGACATGGTACTGGCATCAGAATAAGCAGAGAGATCAATGGAACACTACAGAGTCCAGAAATT...
Task1_train_34279
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
CCATTCTATTTTCTGTCTATTAATTTGACAACTTCAGATACCTTATATAAGTGAAATTTATATAGTATTTGCTCTTCCATGACAGGCTTATTTCACTTAGCGTAATGTCGTCAGGGTTCATTTATCTTGCAACATGTCAGAATTTCCTTCCTTTTTAAGGCTGAAGGTTGTTCCAGTGTGTGTATATCACATACTTCATTTATCCATTCATCCATCAGGAGATACTTGGGTTGCTTCCACTTTTTGGCTATTGTGAGTAGTGCTGCTATGAACATGGGTATGCAAATATCTTTTGGGGGATTCTGCTTTGAATTTTTTTG...
CCATTCTATTTTCTGTCTATTAATTTGACAACTTCAGATACCTTATATAAGTGAAATTTATATAGTATTTGCTCTTCCATGACAGGCTTATTTCACTTAGCGTAATGTCGTCAGGGTTCATTTATCTTGCAACATGTCAGAATTTCCTTCCTTTTTAAGGCTGAAGGTTGTTCCAGTGTGTGTATATCACATACTTCATTTATCCATTCATCCATCAGGAGATACTTGGGTTGCTTCCACTTTTTGGCTATTGTGAGTAGTGCTGCTATGAACATGGGTATGCAAATATCTTTTGGGGGATTCTGCTTTGAATTTTTTTG...
Task1_train_34280
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGTACAACCTACTCGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTAGGAGATTGAAGTTGCAGTGAGTTACTGTACCACTGCTCTCCAGCCTGGGTGACAGAGCAAGAAGGCCCTGTTTGTTTAAAAAACA...
CTAGAGGAAAAATTCCCAGATCCCCTCCCTTCTGCCCCACGATTTCCTACTTATATCTCCCATTAGCCAATTAAATACTTAACTGAATACTTAAATTTAAAAAATTCCAGCCTGGGCACATACATAGCCAGACTCCCTCCCTACAAGAAAAAATTTTAAACTAGCTGGACATGGTAGCACGAGCCTATAGTACAACCTACTCGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCTAGGAGATTGAAGTTGCAGTGAGTTACTGTACCACTGCTCTCCAGCCTGGGTGACAGAGCAAGAAGGCCCTGTTTGTTTAAAAAACA...
Task1_train_34281
A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless?
Benign
GCCCATGAGGATGGGGTTCAGAGAGCTTCCAGGTAGTGGAATACGTGGAGGTTTCCAGAGGGTGGTGCACCCAGGGCGGGCATGAAAGCTCTGCACCCCTTCCCATGTGCCTTGCCCTGTATAGCTCTTCATCTGTATCTTCTGCAATATCCTTAATAATAAACCAGTGACCAGGCATGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCAGGTCAAGAGATCGAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTTGGTGTGGTGGTGTG...
GCCCATGAGGATGGGGTTCAGAGAGCTTCCAGGTAGTGGAATACGTGGAGGTTTCCAGAGGGTGGTGCACCCAGGGCGGGCATGAAAGCTCTGCACCCCTTCCCATGTGCCTTGCCCTGTATAGCTCTTCATCTGTATCTTCTGCAATATCCTTAATAATAAACCAGTGACCAGGCATGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCAGGTCAAGAGATCGAGACCATCATGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTTGGTGTGGTGGTGTG...
Task1_train_34282
Here’s a variant located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Benign
TGGGCCCACGGAGCTAAATGCCCAGCCATGCGTGTTGGCTTTTGCATGTTGCTGGAATGTCCTTTGGCACGGTGCCACTGTGGTACCCCAAGTGAACCAAGTGCTGTGCTCACTCCATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACT...
TGGGCCCACGGAGCTAAATGCCCAGCCATGCGTGTTGGCTTTTGCATGTTGCTGGAATGTCCTTTGGCACGGTGCCACTGTGGTACCCCAAGTGAACCAAGTGCTGTGCTCACTCCATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACT...
Task1_train_34283
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
CATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTAC...
CATAACCCAATGGAGCCACCTTTGTTTGACTCTCACCTGCCCTAGGTTGTTTAATGTTAAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTAC...
Task1_train_34284
Given this context: Chromosome 2 — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Benign
AAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTACCTGGTAGAAATTCAATGACCCTGAGATTCTGGCTGGACGCAGTGACTCACGCCTGTAA...
AAACGGCTGTCATAAAGTCCATGCATAGGCATCTAGATCAGTGTGCTTATACATTAAGTTTTTGCCAAACATGACCTTTGTACCCAATAGCAGACAGAACTTGTGAGCAAATGATTGAGTTCCCACCTGTCTGTTCCCAGTGACACTGAAACTTGCTCTCCCTTTTGGTGCTGAAATGGAACCATATTACGTTCTTGCAGCACATAGGCACAGTTTCTGGGAAACATTAGTAACTGGTGATGGGGAGGCAAGATGTGTCTACCTGGTAGAAATTCAATGACCCTGAGATTCTGGCTGGACGCAGTGACTCACGCCTGTAA...
Task1_train_34285
This mutation is located on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Benign
AAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCT...
AAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATTCAGGATCAAGCTCTTTACATGCATGGCACTTTGCCAGCCTCCAGCTTCCGGATGCGTGTGCAAGTGTTGATAAAGGCT...
Task1_train_34286
A mutation found on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Benign
GAATGGACAAAGATTTCATGACAAAGATACCAAAAGCAATTACAACAAAAGCAAAAATTGACAAACGGATTCTAATTAAACTTAAGAGCTTCTGCATAGCAAAAGAAAGTATCAAAGGAGTAAACAGACAACCTACAGAATGGGAGAAAATATTTGCAAACTATGCATCTGACAAAGGTCTAATATCCAGCGTCTATAAGGAACTTAAATTTACAAGAGAAAAACAAACAACCCCATTAAAAAGTGGGCAACGTACATGAACAGAAACTTCTCAAAAGAAAACCTACAACAGGCCAACAAGCATATGGAAAAAAAAGCTC...
GAATGGACAAAGATTTCATGACAAAGATACCAAAAGCAATTACAACAAAAGCAAAAATTGACAAACGGATTCTAATTAAACTTAAGAGCTTCTGCATAGCAAAAGAAAGTATCAAAGGAGTAAACAGACAACCTACAGAATGGGAGAAAATATTTGCAAACTATGCATCTGACAAAGGTCTAATATCCAGCGTCTATAAGGAACTTAAATTTACAAGAGAAAAACAAACAACCCCATTAAAAAGTGGGCAACGTACATGAACAGAAACTTCTCAAAAGAAAACCTACAACAGGCCAACAAGCATATGGAAAAAAAAGCTC...
Task1_train_34287
This genomic variant is located on Chromosome 2. Can you determine its pathogenicity and name any linked disease?
Benign
TACTAAGTGCACCCCCACTACATAGAGGTTGATGGGGTTGCTGCCACCCCAGGATGGCAAAGCCAGGGCAGGCACTGAAGGGAAGAAGCTGTTGGTGACATTACCCTGATAAACCCATAGCAGCCCAGGAGACAGGTATAGATCACATGGATTTGGGAGGTGACAGCATTCACATAGCCAGGAACTATAGACTCCCTTGAGTTACACTGCATATCCCGTGCACCCTGCATTATATCACTCTGCTTTTCCAATAGTACTAGAAGGTTCTACATCTAGTAACTGCAACTCTTAAACAGCAAGTAGAGCTTTTTTTTTTTTTT...
TACTAAGTGCACCCCCACTACATAGAGGTTGATGGGGTTGCTGCCACCCCAGGATGGCAAAGCCAGGGCAGGCACTGAAGGGAAGAAGCTGTTGGTGACATTACCCTGATAAACCCATAGCAGCCCAGGAGACAGGTATAGATCACATGGATTTGGGAGGTGACAGCATTCACATAGCCAGGAACTATAGACTCCCTTGAGTTACACTGCATATCCCGTGCACCCTGCATTATATCACTCTGCTTTTCCAATAGTACTAGAAGGTTCTACATCTAGTAACTGCAACTCTTAAACAGCAAGTAGAGCTTTTTTTTTTTTTT...
Task1_train_34288
A variant on Chromosome 2 has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Benign
ACGTACAAGTAGATATCTATCCTTCTCTGGAGGAATAGACTGTAACTTACTGCACTGTTCCCAAGAGAAACTAAATCAGACCCACTGCCAAAATTCTGCTGCACTACCCATTTGACCCTGAACAAGTATCTTAAATCTCTACAGGTCTCAATATCCACAGGGTTGCTGGAAGCGCAAAATAAGATAACCTATGCTTAGTTATGATAAGAGACACAATTATGCTACTATTATAATCATGGTCATCCGTGAGTTTCTGGTTTTTTTTTTTTTTTTCTGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGCGATCT...
ACGTACAAGTAGATATCTATCCTTCTCTGGAGGAATAGACTGTAACTTACTGCACTGTTCCCAAGAGAAACTAAATCAGACCCACTGCCAAAATTCTGCTGCACTACCCATTTGACCCTGAACAAGTATCTTAAATCTCTACAGGTCTCAATATCCACAGGGTTGCTGGAAGCGCAAAATAAGATAACCTATGCTTAGTTATGATAAGAGACACAATTATGCTACTATTATAATCATGGTCATCCGTGAGTTTCTGGTTTTTTTTTTTTTTTTCTGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGCGATCT...
Task1_train_34289
Consider a variant on Chromosome 2. Determine its clinical classification and disease relevance.
Benign
TAATTAAAAGTTAATCGGGCTGGGTGCAGTGGCTCACACCTGTAATCCAGGACTTTGGGAGGCCAAGGCAGAAGGATGACTTGAGCCCAGGATTTCAAGACCAGCTTGGATAACATAGTGAAACCCCATCTCCACAAAAATTTAAAAATTAGTGGGGCATGGTGGTGCGCACCCAAGTAGCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATAAGTTGAACCCAGGAATTTGAGGCTGCAATGAGCTATGATTGTGCCGCTGCACTCCATCCTCGGTAACAGAGTGAGACCTGTCTTTAAAAAAAAAAAATCCAA...
TAATTAAAAGTTAATCGGGCTGGGTGCAGTGGCTCACACCTGTAATCCAGGACTTTGGGAGGCCAAGGCAGAAGGATGACTTGAGCCCAGGATTTCAAGACCAGCTTGGATAACATAGTGAAACCCCATCTCCACAAAAATTTAAAAATTAGTGGGGCATGGTGGTGCGCACCCAAGTAGCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATAAGTTGAACCCAGGAATTTGAGGCTGCAATGAGCTATGATTGTGCCGCTGCACTCCATCCTCGGTAACAGAGTGAGACCTGTCTTTAAAAAAAAAAAATCCAA...
Task1_train_34290
Here is a genetic alteration on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Benign
ACACGCGTGCACACGTACTACAAATGATAACTATGGTGATTGATGTTTTCATCAGTTTGATTGTGGAAATCATTATAATATATGTATATGTATATTCAAGGTATTGTACACCTTGAATATATATGATTTTTATCAATCATAAGCATTTTAAAATTCACTTTTGCTAACTGAAAGAGCATGTGTATTTTTGTTACTACTTATGAAGATGAAAGCTAGTCTGGCTTGGCCATAAGTGGGTGTGGGTCTTGGCTGTCTTCTGGTTCAGGCTGCTGCACTTTTGCAAACTGAAAGAGCATGTGTATTTTTGTTACTACTTATGA...
ACACGCGTGCACACGTACTACAAATGATAACTATGGTGATTGATGTTTTCATCAGTTTGATTGTGGAAATCATTATAATATATGTATATGTATATTCAAGGTATTGTACACCTTGAATATATATGATTTTTATCAATCATAAGCATTTTAAAATTCACTTTTGCTAACTGAAAGAGCATGTGTATTTTTGTTACTACTTATGAAGATGAAAGCTAGTCTGGCTTGGCCATAAGTGGGTGTGGGTCTTGGCTGTCTTCTGGTTCAGGCTGCTGCACTTTTGCAAACTGAAAGAGCATGTGTATTTTTGTTACTACTTATGA...
Task1_train_34291
A genetic alteration is present on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Benign
TTTCTTTTCTTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTCCTTTTTCTTTCCCTTTTTATTGACAGGATCTCACTCTGTTGCCCAGCCTGGAGTGCAGCAATCTCGGCTCATTGCAACCTCCAACCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGAAGCTGCCAAGAGGCTAATTTTTTTTTTCTCCTGCCTCAGGCTCCCAAGAGGGCAATTTTTTTTTTCTTCGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGATCTCCTGACCACGTATCCAC...
TTTCTTTTCTTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTCCTTTTTCTTTCCCTTTTTATTGACAGGATCTCACTCTGTTGCCCAGCCTGGAGTGCAGCAATCTCGGCTCATTGCAACCTCCAACCCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGAAGCTGCCAAGAGGCTAATTTTTTTTTTCTCCTGCCTCAGGCTCCCAAGAGGGCAATTTTTTTTTTCTTCGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTTGATCTCCTGACCACGTATCCAC...
Task1_train_34292
This sequence variant lies on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Benign
ATGAATAACATCCACCAGTCGGTGAGTGAGTGGTCCAGAACCCCCGGACCCCTGACCTGTCTGCTCTTGGTTCCCCGGGCAGCCTTCAGGCCTCCAGTCCCCATAGCGTTTCCATCCTCTTCCTACTGAGGACTGAGGTCTGGTCTGGGCTTCCCAGAGCCGCCCACTTTTCTCATCTTGGACACAGACATGTGGGTGGGTACACATGCACACACACACACACACACACACACACACACACAGGCACTTTGCTCCCTCCTGCAGGGCTGTCTCAAGAAGACCCTGGAGGACTTGGAGAAATATGTGAAGAAGGATGTGAG...
ATGAATAACATCCACCAGTCGGTGAGTGAGTGGTCCAGAACCCCCGGACCCCTGACCTGTCTGCTCTTGGTTCCCCGGGCAGCCTTCAGGCCTCCAGTCCCCATAGCGTTTCCATCCTCTTCCTACTGAGGACTGAGGTCTGGTCTGGGCTTCCCAGAGCCGCCCACTTTTCTCATCTTGGACACAGACATGTGGGTGGGTACACATGCACACACACACACACACACACACACACACACACAGGCACTTTGCTCCCTCCTGCAGGGCTGTCTCAAGAAGACCCTGGAGGACTTGGAGAAATATGTGAAGAAGGATGTGAG...
Task1_train_34293
This alteration occurs on Chromosome 2. Is it associated with a disease or is it a benign variant?
Benign
CTGCAGGGCTGTCTCAAGAAGACCCTGGAGGACTTGGAGAAATATGTGAAGAAGGATGTGAGTGGCCACAGACCCAGGGCCATGGCCATCACCCCCAAAGCAGCAGGGCTGCCCCCGCAACCCTTCTCTGGCTTTCTTCGAGGTTTAGGCTGAGCTCTGCTCCCCGGATGGCTGGGGATCTTTCTATGGGGCCTGGTGCCTACCTGCCTGGGCTGGGGTGGGCTCCCAGAAGGCTGAAACCTGAGGAGAGGATCCCAGGGCAGCTCTGGGAGTCCCACCCCTGCAAGTCCCTCTATCTCTGCCCCAGCCACGCCTCCCCA...
CTGCAGGGCTGTCTCAAGAAGACCCTGGAGGACTTGGAGAAATATGTGAAGAAGGATGTGAGTGGCCACAGACCCAGGGCCATGGCCATCACCCCCAAAGCAGCAGGGCTGCCCCCGCAACCCTTCTCTGGCTTTCTTCGAGGTTTAGGCTGAGCTCTGCTCCCCGGATGGCTGGGGATCTTTCTATGGGGCCTGGTGCCTACCTGCCTGGGCTGGGGTGGGCTCCCAGAAGGCTGAAACCTGAGGAGAGGATCCCAGGGCAGCTCTGGGAGTCCCACCCCTGCAAGTCCCTCTATCTCTGCCCCAGCCACGCCTCCCCA...
Task1_train_34294
This variant is located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Benign
TGTTCCTGCAGCATTTCTGGGTAGCGGGACACTGCTCGCTCAATCCTCGACGAACGCCGTACAGGAGTGATAAATTTCATGTCTTGCACTTCCGGCATCCCATTTATTCTGAGAGACAGCAAGAGATGCATTAAAAACCTTATCATTTAAAAAAATTATCTTTATTATTTTTTGTTTCTTATTCAATAATAAAACAGGGAAGACATTTTAACATAGGGTGATACAAGAGATATGTCTAGAGCAGCTTTCATCTTCAGATGGCTTTTTCTAGGAGTTCGAGACCAGCCTGGGCAACATAGCAACACACTATCTTTACCAAA...
TGTTCCTGCAGCATTTCTGGGTAGCGGGACACTGCTCGCTCAATCCTCGACGAACGCCGTACAGGAGTGATAAATTTCATGTCTTGCACTTCCGGCATCCCATTTATTCTGAGAGACAGCAAGAGATGCATTAAAAACCTTATCATTTAAAAAAATTATCTTTATTATTTTTTGTTTCTTATTCAATAATAAAACAGGGAAGACATTTTAACATAGGGTGATACAAGAGATATGTCTAGAGCAGCTTTCATCTTCAGATGGCTTTTTCTAGGAGTTCGAGACCAGCCTGGGCAACATAGCAACACACTATCTTTACCAAA...
Task1_train_34295
A sequence alteration has been identified on Chromosome 2. Is it disease-inducing or harmless?
Benign
CCATAATTTTGTTTCTCTAGTACTTTCTATATATACACCAAACAATTAGCTCCAGAAAGGTAAAGACTCACTGTGTGCTCATCACTGTGTCTCCTAGCGCCTGGCACACTGCAGGTGCTGAAGAAACACCTACAGAATGAGTGAATGAATCTCTCCCTCTCTAGACTCCTTCTCTTTTGTAATCAAACATGTTCAACCTGCAACACAGTCTTATGACCAATCCTCTGTTGTCTGACCTAGGCTGAGCTCCAGGGCTGGGACCCTGACTTCCTTATTCACCACCTCAAGGTCTCTGCACTCACTTCTCTTTCTGCTCAGGA...
CCATAATTTTGTTTCTCTAGTACTTTCTATATATACACCAAACAATTAGCTCCAGAAAGGTAAAGACTCACTGTGTGCTCATCACTGTGTCTCCTAGCGCCTGGCACACTGCAGGTGCTGAAGAAACACCTACAGAATGAGTGAATGAATCTCTCCCTCTCTAGACTCCTTCTCTTTTGTAATCAAACATGTTCAACCTGCAACACAGTCTTATGACCAATCCTCTGTTGTCTGACCTAGGCTGAGCTCCAGGGCTGGGACCCTGACTTCCTTATTCACCACCTCAAGGTCTCTGCACTCACTTCTCTTTCTGCTCAGGA...
Task1_train_34296
This variant lies on Chromosome 2. Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Benign
AGGCTTTTCTTGGTTAATAAAACTAAACTACTTTTCAAAAAATGTCATACTTTTCAAAAAATGATTGTCTCTTATTAAACCAAACTGTTTTTATATCTGTAAGAAATACCTTTCAAATACATGTTCTTTAGGTTGCTAACATCTTTATTATTTTTATTACTAATCATACTTATGAATGCATATTTTTAAAAAGACTAATTTCTACTTACAGATTTAGAAGGTGGTTGATTCTGGCAATTATTCTTGGATTTTAGATAAGGCCTATAAAAGACAAATTAAAATTAATCCTCAGCACAGAAGGATTCTAAGCTAAGCTTGGG...
AGGCTTTTCTTGGTTAATAAAACTAAACTACTTTTCAAAAAATGTCATACTTTTCAAAAAATGATTGTCTCTTATTAAACCAAACTGTTTTTATATCTGTAAGAAATACCTTTCAAATACATGTTCTTTAGGTTGCTAACATCTTTATTATTTTTATTACTAATCATACTTATGAATGCATATTTTTAAAAAGACTAATTTCTACTTACAGATTTAGAAGGTGGTTGATTCTGGCAATTATTCTTGGATTTTAGATAAGGCCTATAAAAGACAAATTAAAATTAATCCTCAGCACAGAAGGATTCTAAGCTAAGCTTGGG...
Task1_train_34297
A genomic variant on Chromosome 2 is under review. What is the biological outcome — benign or pathogenic?
Benign
GGTGATTAATCCTCTCTGATCTCAGTTGGCTTATTTGAGTTTCTTGGAGGCAGGCCACATTGTCCTAATGTCTAGTATTGTGTAGGTCAGATAATAGATGTCAGTAAAGATCAATGGAATAAATGGATGCTCTGGGATGGGAGGTGAATAAGGTCAGGCAGGGAAAGGAAAAAGAAAGAAGGTAATTTTCCTCTTACTCTCTGTTATATTTTCTCATAGAGCCTGCCTAGGCACGCCTCTGGAATCAATGGGAGTGGGGTGGGCAGGTGGGGGCTGTGGTAGGAAGGAAAGAGGACAGTGTCACCTTGTTAGAGGTGTCT...
GGTGATTAATCCTCTCTGATCTCAGTTGGCTTATTTGAGTTTCTTGGAGGCAGGCCACATTGTCCTAATGTCTAGTATTGTGTAGGTCAGATAATAGATGTCAGTAAAGATCAATGGAATAAATGGATGCTCTGGGATGGGAGGTGAATAAGGTCAGGCAGGGAAAGGAAAAAGAAAGAAGGTAATTTTCCTCTTACTCTCTGTTATATTTTCTCATAGAGCCTGCCTAGGCACGCCTCTGGAATCAATGGGAGTGGGGTGGGCAGGTGGGGGCTGTGGTAGGAAGGAAAGAGGACAGTGTCACCTTGTTAGAGGTGTCT...
Task1_train_34298
A mutation on Chromosome 2 is under review. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Benign
ACCACAGTATCTTTATATGTCTTTGGATACCTACGTTTCTGCCAGACATCTCTTGCTCTGATGTTCTGGCTGCCAAATTCTCTGTCAAGCGCCTCCAATTTTTTGTGTCCTTTGATTTACCCCAACATGACAAAGGCAGTTGTGCTTCATGTATTCAGGGATACTGCCAAACCACAAACAGGTTAAAATCAAATAGCAGATATCCCTGTTCCTAAAGACCCATCAGCTCTACCCACCTGCTCCTGCTCACCGTCCTTATTGTTGAGTCCTGAAGCCCTTCCTTGTCATTTTTATTTTTTGCATGAACAATTTAGTTCCCT...
ACCACAGTATCTTTATATGTCTTTGGATACCTACGTTTCTGCCAGACATCTCTTGCTCTGATGTTCTGGCTGCCAAATTCTCTGTCAAGCGCCTCCAATTTTTTGTGTCCTTTGATTTACCCCAACATGACAAAGGCAGTTGTGCTTCATGTATTCAGGGATACTGCCAAACCACAAACAGGTTAAAATCAAATAGCAGATATCCCTGTTCCTAAAGACCCATCAGCTCTACCCACCTGCTCCTGCTCACCGTCCTTATTGTTGAGTCCTGAAGCCCTTCCTTGTCATTTTTATTTTTTGCATGAACAATTTAGTTCCCT...
Task1_train_34299
This is a variant located on Chromosome 2. Is this mutation a likely cause of disease or not?
Benign
ACGTTTCTGCCAGACATCTCTTGCTCTGATGTTCTGGCTGCCAAATTCTCTGTCAAGCGCCTCCAATTTTTTGTGTCCTTTGATTTACCCCAACATGACAAAGGCAGTTGTGCTTCATGTATTCAGGGATACTGCCAAACCACAAACAGGTTAAAATCAAATAGCAGATATCCCTGTTCCTAAAGACCCATCAGCTCTACCCACCTGCTCCTGCTCACCGTCCTTATTGTTGAGTCCTGAAGCCCTTCCTTGTCATTTTTATTTTTTGCATGAACAATTTAGTTCCCTTTGTCTCACTCCTAAACCTTTCTCAAAGGATT...
ACGTTTCTGCCAGACATCTCTTGCTCTGATGTTCTGGCTGCCAAATTCTCTGTCAAGCGCCTCCAATTTTTTGTGTCCTTTGATTTACCCCAACATGACAAAGGCAGTTGTGCTTCATGTATTCAGGGATACTGCCAAACCACAAACAGGTTAAAATCAAATAGCAGATATCCCTGTTCCTAAAGACCCATCAGCTCTACCCACCTGCTCCTGCTCACCGTCCTTATTGTTGAGTCCTGAAGCCCTTCCTTGTCATTTTTATTTTTTGCATGAACAATTTAGTTCCCTTTGTCTCACTCCTAAACCTTTCTCAAAGGATT...