id stringlengths 43 56 | task stringclasses 3
values | question stringlengths 8.53k 16.6k | prompt_suffix stringclasses 3
values | prompt stringlengths 8.65k 16.6k | options listlengths 2 6 | answer_index int64 0 5 | answer_text stringclasses 10
values | gold_answer_json stringclasses 10
values | messages listlengths 2 2 | source stringclasses 1
value | variation_id stringlengths 3 7 | allele_id stringlengths 5 7 | assembly stringclasses 1
value | chrom stringclasses 23
values | pos int64 131k 247M | ref stringclasses 4
values | alt stringclasses 4
values | label_raw stringclasses 6
values | review_status stringclasses 3
values | n_submitters int64 1 54 | origin stringclasses 1
value | variant_type stringclasses 1
value | window_bp int64 8.19k 8.19k | variant_index_0based int64 8.19k 8.19k | variant_position_1based int64 8.19k 8.19k | variant_window_placement stringclasses 1
value | ref_seq_sha256 stringlengths 64 64 | var_seq_sha256 stringlengths 64 64 | ref_is_a stringclasses 3
values | excluded_from_benchmark_eval bool 1
class | benchmark_exclusion_status stringclasses 1
value | benchmark_exclusion_manifest stringclasses 1
value | label_binary stringclasses 2
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
clinvar-3233815-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3233815 | 3392938 | GRCh38 | 22 | 20,988,104 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f86ad8ea0713fd4dfcd40aee115e59e1930467932f364243971dc30250c83859 | fdd4334f0fd8de9eebc5283377fe92a333b071f30d976f1d2ca0909f3e390f51 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1761238-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1761238 | 1813546 | GRCh38 | 22 | 20,991,626 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 49645fd4bfeaf6cbb7594e00d60392da5155005c78f1108bc2bb77d722a25468 | b7a5ff7d6faa12460bf7fdb38c672fa68b18e90ba395f3bd700f61ad0e024eb4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1237439-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1237439 | 1226563 | GRCh38 | 9 | 115,042,121 | A | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | decf686b175d67a2cce48ea21aff0aec4a3c335e3946fd134163d8e01c4ba93a | 8b504d5e805b7f55bfda586a8471ded66c11e3b48d6dc7532f8c98fdebd8ba79 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-254424-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 254424 | 249119 | GRCh38 | 17 | 43,092,305 | T | A | Pathogenic | reviewed by expert panel | 1 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f96ed4c726e62e12639b8510cd5eccaf47afdd6029a68dc4cc9cfa965b79cdf6 | e974b240894bb68d886779c771469a51d173914d8db49dd01412c76eb1da0944 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-663482-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 663482 | 635551 | GRCh38 | 7 | 117,603,631 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 428666ade44be46c80804d0f6eac207486e800b653f9e843a8b5c1d7ad7ae177 | e506da58094d0029b4602d2e21c5965472fe779f95f8e2480aaeaa646dd430f1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1768715-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1768715 | 1829124 | GRCh38 | 5 | 1,293,602 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7159ae1cac6a6e9ffb5486960bf236b68bfa7cba8745588265566de4e5340c2a | e708c19bc5ca93d4e21334cb2af6cc9978a528fb18a80e61fe572f0b0b55c15e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1339453-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1339453 | 1330552 | GRCh38 | 12 | 57,766,007 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 100d64ababfaeeabbdf80e59714bc586e21e49cabe3770f9dc4554cdb1be18b2 | b3c7fdeef4bb6a2bbd100d08e50e7995821ec9985a319cfbc81b189928ecad79 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1221810-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1221810 | 1210920 | GRCh38 | 1 | 247,444,865 | C | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ce592eea7dc1cba3729845a2f305f015264838ab3700e660420ae05d9721dbae | 60728ff8758e2f3ed7e28e29b332de6612ef12da1830814642d3e94a39115e1e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1642608-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1642608 | 1552706 | GRCh38 | 7 | 44,226,570 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4859296ef5c24944509720d17fff8f097eddf47c852f51415090e1c0b0c69ec7 | f5ce5bd1598bf49e400bbf5949018099252f2b4d209a0b9efc7e5b8731b5e964 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-709292-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 709292 | 725710 | GRCh38 | 14 | 58,487,027 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cad9d11b208fc01c613e9e81c594fab48aa9fc9e7ef3e0c7b1524e7efbb7a0bd | 3f59387476acf29db8379cb59593780b01dce96d3672367973e77893298d344b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-7899-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 7899 | 22938 | GRCh38 | 1 | 94,120,994 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | de1b67b959a83a2b9a5cad842a45f8d669fb47727aa25c8fb94beca8c924db2b | b8d4931c9b18431c47f02ac26860d815747810da263713bd053949bd7ba3f607 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1590019-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1590019 | 1576565 | GRCh38 | 18 | 79,736,435 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 934d387ada563d3208f15ec00f5d7282b6ababfc11cac82362bac0b835c33e21 | a415e70d1add30c6d58db87ede2b5173b8a53cc34cd6fb1581a90682501796b9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1290633-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1290633 | 1280461 | GRCh38 | 1 | 40,822,430 | T | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d3d578e17c48fbbc91abd36baa676eae77f02247fc8cc4f7c89647179f3e3fa | 94057c4d0006b6689c9e12a9958e38b9a211edb968fedc4b41f8753d6bc5d8c3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-208648-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 208648 | 205263 | GRCh38 | 10 | 252,459 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 13 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bd28241d4c8f6fc475a488809d8cd3f576819e7511b7a245102a89fb74abdfb9 | 449b15d02ce9380f10c7852b92cf433bf961292fabaeb4e873c92edf665a666a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1128766-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1128766 | 1120273 | GRCh38 | 10 | 43,118,407 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3bbdf038ba0d0155d8a99056446e628e62a0c1320895b02cb052256c563e78e5 | f0f4aa25789c268eadbe67e9e029ef2a48198b883fbcc2a6bfd7b1dad86041e5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-695243-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 695243 | 684889 | GRCh38 | 20 | 5,313,995 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5cbb19d306509fe651bab329d1bb9fc2d00c622833c0e26f56d39f19e72c6058 | 493a1693eecb39bb6ad5f19f724bb23a3ce7247047d6071d3b30f9e9df5e4393 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2952013-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2952013 | 3113408 | GRCh38 | 5 | 1,279,290 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ddff9821dc23a677fed70fe0e711a95821f81bb42246c5ee7ad5d223621abbbe | 51604048c26a825f9aae2e9e6822ed46db28c39a706df37ff206c4fbaee375ec | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-672008-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 672008 | 657491 | GRCh38 | 1 | 236,748,986 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5ea6bad8f0c20264567e1dd51faa4afc506ef868043e62c9e7d0a7244da5edfe | 0d99ddd16e9d21a32bcce6f9264639e2eceeeb8b17e7a67ac0fe4641fdd9dcea | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-464122-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 464122 | 447775 | GRCh38 | 1 | 229,432,608 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a3c93df2c6ac40d8517d0d6219ca82f1f34235ecbb32c4e3e6235abf6afab83a | 49f71b788d6e120308c94598be126c3b8b6b47b33776012235ba318514ce0015 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-268155-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 268155 | 263782 | GRCh38 | 10 | 129,957,324 | C | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0fae85bdecd996095d4e2ab87d942b6a660d0207545c7b9e32d519d985f9cf99 | d2d482c7f20cbf85e949add8f17dcac944d9781014f2afd2907f10e86783cfbf | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-720006-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 720006 | 724908 | GRCh38 | 12 | 117,039,169 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 49471b6f3865b83883441f6355221ab296904784d2cfdf2bd6d0ca319957d487 | 7e5866a6ad6f78cd62db88a5cbbfe6ebaf6e61275b8944a0ce9f15527b7755aa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1070417-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1070417 | 1062425 | GRCh38 | 11 | 64,806,271 | G | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a0dd257e85d81639496193fef50fd285d35b10f76553b6a11c4e31e1a4e8ab58 | 8fd7bfd9ff118367bcce9ed19e167fd078d259262780780f3bfb35ee7811bd6f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1186732-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1186732 | 1177239 | GRCh38 | 9 | 95,516,952 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9020d58c04cac93cbe95372e83251bc048ff346ec76900af1218a711690c2f36 | a540743d9ef2594bdcb2130353d1327613e4596e67745529b1da4f17eb745f73 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2092273-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2092273 | 2148783 | GRCh38 | 16 | 23,629,775 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 91c33e70409710673ca1ae5c5fdb42d0858243a5cd6ee0973e9f7bc9416c65f2 | f2215f0e4086b0a27644c285a3cf8fe8db332965c045bb3826418043a701f3bd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1514085-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1514085 | 1491900 | GRCh38 | 22 | 18,083,734 | T | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1cd1979e623f138ba9df674685a0ece5beb8d340934170be73f232cef40b8f4a | def7779da3ce104c8202709b6b12a7c598a3dc8af9c45247f78684ba814b9133 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-102784-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 102784 | 108520 | GRCh38 | 12 | 102,855,154 | C | T | Likely pathogenic | reviewed by expert panel | 31 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cdb71a3396a2404375a2f84cd3911a18580a5e2d0a356913b6b71d8338c6a7a5 | d6954f21993ce4791048216d8602afe346ba1c4750a9a64e28edfdd53b2ad2ff | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-41529-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 41529 | 49968 | GRCh38 | 5 | 112,767,388 | G | C | Likely benign | reviewed by expert panel | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 85fe72047c77e7ba98bb1d9fe76404aa49e21be65e1ccc792c967be9943bc45e | f68bc864b5c631f0f5ea6e91d30106e56b30134f79807bf1c42ad742b6c4a67f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-556007-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 556007 | 545304 | GRCh38 | 9 | 34,648,359 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3c26e24555e2da96a86ba35745418149a1ed27639a7894866506361ead5eb7e4 | 3dbc649a00c7a4f30973d20b1f403b7dd9218b826b152c9919408f9e6138638e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-193626-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 193626 | 190789 | GRCh38 | 7 | 74,045,245 | G | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f89b3386958daf82c2e0cb9a9ef4c941139e758573268d6ca8419a9f3a295864 | 77745fd2c20197a0ca62c2a4b212e15a0b6e1ef789f2d39f1f3d3ef3b670679c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1417347-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1417347 | 1377714 | GRCh38 | 13 | 48,307,326 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8b366b4c344103b7e28d5b96cf1b92de3964ef2ac744db14e65a77bd852a8f5f | 7925aa45d385b34e88c9421bcf712076b9fb446dacb9f4f45e2d5a51e3db0f0f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-775368-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 775368 | 703694 | GRCh38 | 16 | 4,698,032 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cf35746c68a12f2151a2ea121def296480abd7fe7589543c15e040af3be9cf1d | 08ec87c36a8109c63b39e38b8358f773f9bf1913ec3decf82c9b90492a9549d0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1269401-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1269401 | 1260542 | GRCh38 | 4 | 168,925,104 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0bbe71bcbd28b34ff3157c5ed4b19d0a6d5b90fd128f092a629c34515a47e77c | db8b3dd3c169e31cc651414f0bb6c8971c63fcf3faec1b0ff30ae22760cc463a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-989092-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 989092 | 976951 | GRCh38 | 2 | 32,089,596 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 817836b0ef187f6aa9075170f7a5781d04f059d4789eb317ea646347a372aec1 | 4c1f62f84e3320edc4e94ffc5b4988baaf734515976d6642abcdf9627fc2c3f8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-314737-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 314737 | 321645 | GRCh38 | 14 | 87,934,023 | T | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 416edf005ac45bdffe7a57f6d9d591921e31c11b6b09f7fc2248aee77e842707 | 0cd22aaba5c88c46f8d1bc197debc51f806cb8efdde14dacb51a978ee1fe1d0d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-490553-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 490553 | 484267 | GRCh38 | 11 | 108,287,598 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0438dfb80802db9b9df89aedd86e319dca88d361bff4dd313c4538118a1fc301 | 570b8e467cc17c5e07c9708212a6599d121ee585c4535c8e060c0b0163f028d7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-280745-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 280745 | 264627 | GRCh38 | 12 | 47,985,947 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ef07d471d282e6f9f9ef44fee8be4819bb9df5c06e061457fb64a3c5087fc6c4 | 5a92e1e8a2a3c27e5913c8977f40d8f541b83b8a35a6b1eba06f4da606102a0b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-671-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 671 | 15710 | GRCh38 | 2 | 127,428,374 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d1d3763abc31c0ec68fc1958c6f9aaf0b6a9f128585b910f0842405e8861761a | 0614c66475dc47254cedf8219b8c66ec6bd5bbb9cae71ff5a526bdd1c04680fd | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-384233-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 384233 | 372533 | GRCh38 | 9 | 134,809,218 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 58f462ec5c09f25dacb4d94f41a5a3fc6e697fe2847d2942c8f1935a328a2ef4 | 5ea1f5a850046dc067ab03708786725c900500ff9c3a01ce8ab22a65bbe980b2 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-382973-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 382973 | 366633 | GRCh38 | 2 | 55,660,209 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f7c7a4fb0c69d243d684e61a1af72aa2142fe96651d2add48758b49d85b7b4da | 0e3b5aaf93f43834a12c70c68a8c5a5498363b46a315f163768a8d997ae4ab45 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1675786-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1675786 | 1667169 | GRCh38 | 2 | 74,046,937 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cea3a2c216722b4da9706ac27ea78909fc03d49411d7574237bdb0227c6b845a | 78a89e648464306fdafbc34daabd6ff2218d882f604af678db0d01cefa803193 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-770607-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 770607 | 702550 | GRCh38 | 12 | 95,533,215 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 47744c96bce1af01086426f2c0702bea5d2aa3ec8b9b4e617144ac506da25a00 | 3e8ce83305e5281cfdca850dd676780713165915fce06e85dfe8824e6a3d9777 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-468322-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 468322 | 468590 | GRCh38 | 19 | 18,169,270 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7c027dfa0484ffaec44186e6ee4b47be6b0454f44bfac82a18628ab3bb21084e | f6542a3a241f6b0fa8a4a415061b324c2c24d44577cd95ad518ef05d6d08dfae | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1683295-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1683295 | 1675194 | GRCh38 | 9 | 133,352,060 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e6d9dc6f6faa3f0cb9ea2e2cb2cb19c52f41985ba2b91795745bfb37085c654b | af4573b9286a699cbf21f10c64691382e9f492e96a896208cd86cc821588f21f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-160098-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 160098 | 168893 | GRCh38 | 12 | 110,628,757 | T | A | Benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3e4b022db0b3c0074449086623b0d839928bdf4621771b0e79fbb79d001d52f3 | 8f6bc9deb9c2a97f26a0a3d8de23fc920c52cfbb539169a26a72ea62499e09ba | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-547676-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 547676 | 538213 | GRCh38 | 17 | 31,337,600 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 11 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6780267680bbd4e6ff8262dd7281624f6fccb58684165db2f3b599fd6cc3b081 | 2b9175a733da0c4ed45770642da74b727524c29d971a50746571a8b9bf3f1906 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-165059-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 165059 | 174340 | GRCh38 | 6 | 116,622,812 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 10 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | dbcb9d34c5a517fedfaa0212c9968cfeb59e310c5a60deec24241d42eeeff602 | d5354c10a952ee43fea8b157b3c0850f932697653f610ad7201c7b6382d81585 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1774803-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1774803 | 1833389 | GRCh38 | 16 | 67,660,326 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 03cb42ea8bdb5301ecede27de2321587bac51ae3fe17dfbcc5d91a989adb9b5e | 8a50d05d3819009d961e73ac205aa05003878c9ed8efcd6b17b0d4a4905ef88e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1215831-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1215831 | 1205812 | GRCh38 | 6 | 151,405,264 | T | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c50999fdad5fb55fe611a09ceace3af88186a582b70ef10665712efe839d0b58 | 6c522b9dc8b75a9262135cfccbf4397aa0f9af679965a827872ea79d8c972c4a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-576051-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 576051 | 560326 | GRCh38 | 5 | 149,038,367 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d1ce4f36eea30fed2cf36c8d712a6278daa25f7dfd71f994df7825b90288a76 | 3d623406408c62ee0e835f988c95e7196423ad1881d51f219064fb646787df7a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-382546-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 382546 | 374822 | GRCh38 | 16 | 9,840,669 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 732b3ab9504d51ebee823fa9c1c82ab2f881816e463ac4dd044cc58ae8e5a5ff | 8cbc720aae3b09ad0d8dab236d80a1d42ab197fd76bc500d1e4be8bcb7ae2525 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-996840-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 996840 | 984575 | GRCh38 | 6 | 31,669,445 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2fee451cbc78d7239efbea1772ebb62f40238e740f466a0853cc8858ff1cc7f5 | 45b3b3e02331b9b2b6d82020ddde67cf6cb70678bd1af69ae26eaf697ecc990e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-627979-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 627979 | 618944 | GRCh38 | 19 | 11,110,684 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e13ee8e7380b25bcf87d6f7c754f9ea2b44219e48cee993e87a32acdc5e18b75 | ac710c2e06d7a2706f22403afe78a7de51b74fa97ae0fe4785b8402014c13207 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-188730-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 188730 | 186605 | GRCh38 | 1 | 179,559,710 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 13 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c2c7a4eb9b98b1bfd3d201443d98a344a1bcd3a1333357ec702c7afcc345ab32 | 5c9ad7e0c526ea176f77e840b9f310cb03022f6ba31b08c64dd95354d620e431 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-16723-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 16723 | 31762 | GRCh38 | 7 | 74,060,184 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 36d75f86d4ca215e4810c137fbbc1d197dcac995c7c4ceba5b4d8c51e40d78c1 | db845cc7341e6a302ac9ba6f421409f07e3e5e356d3e8b7fafb08cd728dc133a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-540466-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 540466 | 532304 | GRCh38 | 18 | 50,251,764 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 71af31f172bc8d1e60ba7240cc9aa3c46943d3bb45e4b12e96b4980c6d484faf | f92d49a8aa87a398013b0362f0578b7cfca1152befd25f735b2492da6f82ca7f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-973928-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 973928 | 962227 | GRCh38 | 1 | 197,477,800 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7e5c39c6efbc0524e4126ff8956778fcf1e2661149f1eaebdedce65b8cab881e | 3e3befee85b3f5b5f95b6fb6dee58d78553a5a47dd371667e0275bb0f4ec00b8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-16337-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 16337 | 31376 | GRCh38 | 4 | 1,805,644 | C | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 36 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1558d51476ecffdd9f8de0f4296bacb90797bef4c3db19a8b6ac32eecff58c93 | 3197a3f492f37b8f27761d85e743a90c2a115f7eb531d48bcc1dba1d5f844015 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-545691-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 545691 | 536183 | GRCh38 | 19 | 13,359,749 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0cd49215556cb0c4733d66216f3db73c95a8be7239ab1431957eb4f04029d06c | 121e887dfb82c784e526b9ce2552b68849eb9ea3a6d5d95cda1cfeab2fadd045 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1166332-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1166332 | 1155762 | GRCh38 | 7 | 82,916,814 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c80edcbf6b1e5ff34fa6ce9f211efd82f49b5e9f01302eda71a012560db5cdc2 | 5a483eea7bfa1f360e8d06d6e52e7bcc78f4e4c0a93f9a6b9b6b4c4189deeea8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3753274-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3753274 | 3865586 | GRCh38 | 12 | 101,830,675 | T | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 003b99133d33d357152f9db24f751ff7bbfe544f9f3eb088da5a5adb6f0071f3 | 2a3f562fb90263328dec4ac07c6bd4d7166f6b8cec691f687565a0d58bf7d428 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-10126-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 10126 | 25165 | GRCh38 | X | 154,837,676 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0ee3a90467573884de73296060f055cecf7a907afe4d27dbdbfb857901a57265 | 6db9fbad13d20edc45a31d3e073ec8f29da281467e42b17fa4250a01492a192c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1735273-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1735273 | 1793612 | GRCh38 | 16 | 75,656,566 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c58f40d9b4ab33c071da98c323a7fa5de7247438c0f1c536f838acf73ec172b | c8cf3a25318d9ecf64b22092797fc95a5f913c64ae64d359d6e9f09a2972883d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2768381-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2768381 | 2929549 | GRCh38 | 19 | 17,843,775 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1706938c91cec076d9633e4dd4914b9dc1d63851bda2728f62de9ccda91a99ce | cab47ea7f1bcaabfa401243990de2d39acb299641078d3618c0b5241c9d12341 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-191254-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 191254 | 189057 | GRCh38 | X | 136,659,135 | A | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ba1debd8daf02bc8cd39886234e5fa3925a9f37040305e0c34b8356ea4791d96 | fb1d0bcc571a6a46e47b3ccbc346fb85115ca46ef7c614559735b33359e2efa4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1801339-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1801339 | 1858626 | GRCh38 | 12 | 121,827,738 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3948fdcba31b608f691986068307647c183839ac2a9e9e1cdf7dce51af779a23 | c817035082006f0ae31fce739196287ad0db5dcb2379ee278a70724f43d3b52e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-44838-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 44838 | 54005 | GRCh38 | 7 | 24,706,175 | T | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 31f024fd8ed2392baa0c12a60e93e4e87f8ddfa64a86b251028581a57f4c0930 | d5d0582f4bdbcd77f2585f9146dbcacb5c6e477f2f226f1285ecc69f65332caa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-555239-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 555239 | 547457 | GRCh38 | 14 | 24,261,772 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d103df1f63e1c4c45bffc640e992a840ce026675237cf194c1783f404054ac09 | dad677cf2fca765da0d17c03192aed85e590a3e7a1e5a427cad1297269a43dff | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-11704-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 11704 | 26743 | GRCh38 | X | 153,694,424 | C | G | Likely pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1f96fcb2b210612eb2ad4025f471d4a69d8572fdcf88082fe521f9b82da3c448 | 684e0089023ab52437c2ae4b2c63e1c50139a37a76167ec89c87a526dd821c6b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1338309-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1338309 | 1329317 | GRCh38 | X | 53,238,259 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e76f1931afa65eedc31695cda0fe8e7d528a805589e61440ae94925c0f6980a8 | 1f0a77d986c9aea953b5c180d51d8b2aa6d70fb15fd8e1efb85382ed81c29691 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-435769-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 435769 | 427648 | GRCh38 | 1 | 156,135,208 | G | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3dd961f4d291e6e5b8805c92ac3166f1483c0fea673e564679675fa62a4dde23 | 957dd85a570131824f8e3f7a145b33d653a51ee52e45c78669e0d69d905fad9a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-129602-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 129602 | 135048 | GRCh38 | 11 | 93,787,993 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ebe212dfacef5dd61acb7cfa5c33c8f7777b60f5fac70357ac6d31ebda30e25a | 0c96d98ec938e31d1e960ae56da1211b118fc31c3741dfb13af7903025066fde | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1577578-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1577578 | 1553614 | GRCh38 | 19 | 11,026,341 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3602d1bce7d6eca89d8597658ef494106274c12e8ff986ea3c43cff41046b76d | c307d8e7c499546ec30c2f5a2570f7bab5a88e38a743b3305c303bad46ed5607 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-217662-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 217662 | 214306 | GRCh38 | 9 | 136,434,127 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 07809d499024cce59eb34d09c24efbbf0992929225508d972049abaf01e9feae | 431697250bdb70194e852f130f730905b4e9cf4c6a664fd35925bbba966043e1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3240172-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3240172 | 3399159 | GRCh38 | 15 | 89,326,610 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | dfb4808644347fcc12e5ec879368df0463ba256dced49a98d9d103014a10fc56 | 2ce154a1f72b4a799f038322eb1fc45fab00e04e595036dac39329e7d620750a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1172129-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1172129 | 1160169 | GRCh38 | 1 | 237,627,811 | T | G | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 62d3c759e89ab8ebbb6c68f272e1661f41dbc360e3ce630541228553b7e9749a | 5ae7c5be00bd89910d0a72eb28f1b049e73f56faecfa7e524dbb3154147a8876 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-427599-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 427599 | 416949 | GRCh38 | 10 | 87,957,850 | C | G | Likely pathogenic | reviewed by expert panel | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a803788dac91a702edfe1103d3aa1d41d7b34dc29921849f094264ba439b8396 | 435f3c05c529b7626777dff80c0ae1d1a0921cf792240954332c5118f9be6fc9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1674753-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1674753 | 1532759 | GRCh38 | 14 | 73,955,813 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e90c4c0a4b6363e8a588014ceeea0ef5fc9bba53b3473af13b8c29b5ae595a59 | 381fdf0b6a215bcb104dc19decbbeeaa6da556aae7102a88176d4f07af3aba26 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-551666-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 551666 | 540810 | GRCh38 | 1 | 21,563,219 | G | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6aa44d7c5c7f864d5570e5dd5f93d2a37e19678cace01e5341e91271102da472 | 8b234d7a8f3acf2057addc83bd54372b49784a5d8019e021a2240d39fc192011 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2816941-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2816941 | 2980599 | GRCh38 | 20 | 3,231,550 | T | G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 13a68ff0e9cdc5e354ef664a976dcf8d3145899ede020e8a2919b32b957b0011 | 411388ee819b4e9749a7a8e9f1ef354d2ec3c2426af79182d63b6d76b24bfbce | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-504403-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 504403 | 495163 | GRCh38 | 4 | 127,942,044 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2cdf4a669cf55e61b74862b3ba84908d5d2446a205bac8f73ad4fb7e5beb8d29 | 20c4708d4761b732fb566061d6b52868573fb615de9c56cc267da03729460b22 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2890045-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2890045 | 3051489 | GRCh38 | 6 | 64,912,715 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 61ff390bf0a4eec1a6df435293a137400a80fdeef54b4d6fa73d76ccef66e506 | 556e61812ccec93cd0a309681c85c8e80436998f09846ee70eb611e6156aad5d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1255400-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1255400 | 1245332 | GRCh38 | X | 108,205,409 | G | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 67fa8d8e196e0772d649c4b3825d449b433f813821187465745f34288a85a1d8 | 538761617f33106a3e29e75b1c276a889a332c57b3743582fa29f944853c8d2c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-238952-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 238952 | 239729 | GRCh38 | 5 | 13,762,777 | C | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3e397f3c0978949f6acf431578e1525d9eca27a642f5d8d339882a7082603422 | adc803e9182267b9d9efa676b8ed98b9e602db4fbe6c5062590b98e4a69aad0a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1585610-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1585610 | 1540126 | GRCh38 | X | 32,365,116 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b37772a427ab85fe4ec8757084e4400c85d2f2c25e313def6ad7060422733535 | 12ed0d5d76673b8e4ca7c816491825f9c1af367e4d2336ffc1c436113a1f6e94 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-678689-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 678689 | 666104 | GRCh38 | 11 | 65,872,163 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1b6b5fd5b088e76ce42fb0da79e22259166d906688eb2d19923b0d2125927c69 | 7125008f6d5911a085c9a7e21e920ce80662dd10b41edb6ee6cedd40ab18801e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2445671-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2445671 | 1315491 | GRCh38 | 22 | 37,724,339 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6c8eb99adc69ce323ed013eb2b20a22ea755f8aefaf707a1efd8ea72a3a676c1 | 8c04ca1fbbb5f708eec1ae2aeb1c73908433e7bfbf324276fe6c1f7e2f32a3a9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-93128-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 93128 | 99035 | GRCh38 | 22 | 50,626,057 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c516caff54fd068f0d42192d1434d51a200a7dedeb92d26c0deef515f6987cb9 | 71c67847ceb98de9e7b3b4e2625056df996ae678bc375acdfcaf5ccfb38aef7b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-921208-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 921208 | 911681 | GRCh38 | 11 | 47,332,695 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9dcfba4b7922158a739ae10cb3e0712f6b34ac5f4c4738f0927c27f3c755ddb0 | 711f4e200ebc374b3cc2417b116ad6d6a00c5e119bc2b9682eb9cd83179676c5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1678355-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1678355 | 1670044 | GRCh38 | 22 | 32,491,175 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4f7e3900d6720845b834f29a70d841c0ec2f167de127a6932d19775445e7dd71 | 0d4c1c18185294618e74739adcec9b3a040e83493b964c2dfed5b0a892bafa8c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-556224-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 556224 | 547863 | GRCh38 | 16 | 89,740,015 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 462a2fbafc69f3aaef3b88eb37be882ccb9d741ba18400026d03ebe70eb6c696 | 77473a9c67dec05361de2e87a7475cfd3438e265443a04d35e30e9b4cbadc9f4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3393068-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3393068 | 3552146 | GRCh38 | 19 | 17,831,228 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cdd4b65b471ad4d7d07c9f516b2e00a81133643cae632962a2e2e028af5344b3 | 86c877305c004d3f609b2d798cb26e50eb6f526642f2522a65f92593e2b2f5a9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1258494-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1258494 | 1247988 | GRCh38 | 1 | 237,792,380 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c8a37b11a8e5744e7315489f7bf3d989cef03941e9da9e7a4f2f0b55cf566b55 | 582a2e788a48bed6c60fc8bc5e3edf02750e6a8a3da0bec3ac8a807d48452ae7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-90154-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 90154 | 95628 | GRCh38 | 3 | 37,004,400 | G | C | Likely pathogenic | reviewed by expert panel | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b0162df567fc6e77ca78c3a6db19e1513c95452a4d907ec1b1002277dbcb7afe | eb3149736623c6af508c63e6d701f49b02a6a78d66d3a1e447913c202944f5fb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-755485-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 755485 | 771432 | GRCh38 | 17 | 35,103,524 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b61d3de79023f01c12de2fb4b4be1349212179f05799d357aae2a4f77434e1ce | 65378ba6d8bcd28ee58f07857c7fe56c36b85f90b1913a8173bd54f7ade0ff31 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-102473-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 102473 | 108209 | GRCh38 | 12 | 102,844,377 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a72c198a9b5c8b1a26d56cf3191dd626b2ee5d1397ae6932453c642ed750620f | 810823aacdf7d28d5e39721014e2e82106a8486c0df3b1ed13881f0df07cf033 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-729285-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 729285 | 739050 | GRCh38 | 13 | 38,859,430 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 49e76493fb1e7cc055b7a9b0fc0e2440e7ef8a8c6c99767be55174b5cabf635f | c0367e889a345eb3696419f71cb9e665d924b4bf2174794bde96f648bb559d0f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-415195-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 415195 | 403263 | GRCh38 | 19 | 33,301,722 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bbe47f310e5322a695c50efc620b987486718c9e0f545bf0cc5e071dad021f64 | f901ed3b0dc3d21541caddc4150b728aaadda76ed714439d34efc198e8d1dc3c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2107892-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2107892 | 2163065 | GRCh38 | 20 | 10,277,686 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 05a98a904af54ffc8109132bf562a73a08f9fcc4dbec893d6a4c0a87586fb5f1 | 5804d8d33fb7411ba5d4a6421a5c998932c407b5615c9f2f05efc03dc5b99794 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2202769-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2202769 | 1928419 | GRCh38 | 1 | 68,444,818 | C | T | Likely pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5da9f114588470e0dd0fbe04c5b7a7065e1c391a74dc5c26a9391f79895f8e94 | 2f0ae851ad1153c66c9b7d162038ad0b43c6a34c6ad80ceca66f422c4ead0db5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1723288-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1723288 | 1780780 | GRCh38 | 13 | 101,868,724 | C | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 31595cc75f1cb4735d2a10565bf584f2b9f89993d12fc8ceaa8abea149d2fce6 | d21f6fd53b31cbb42cd10e48f7de3459672a156e08a7cdcb7f3565a129067918 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
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