{"info":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","description":"

Genoox platform provides a comprehensive API which let registered clients upload files, create samples and run analyses based on various assays. This allows integration with other upstream and downsteam systems and assure that Genoox analyses can be seamlessly integrated with the lab workflows.

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You can use the API in various ways, from your local workstation with any tool that speaks HTTP (such as postman, curl etc.) or calling it programmatically from any other system. You can use your favorite programming language to make HTTP calls to Genoox

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The Genoox platform API is updated when new features are added in the Genoox platform.

\n","schema":"https://schema.getpostman.com/json/collection/v2.0.0/collection.json","toc":[],"owner":"6621518","collectionId":"4335389d-12e3-445f-8182-339df95b2a09","publishedId":"TVYDdyeo","public":true,"customColor":{"top-bar":"FFFFFF","right-sidebar":"303030","highlight":"EF5B25"},"publishDate":"2020-11-25T11:14:52.000Z"},"item":[{"name":"Authentication","item":[{"name":"Authentication","id":"2a24bb66-846d-4a97-8b53-6f283f8b51e1","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"GET","header":[{"key":"Authorization","value":"","type":"text"}],"body":{"mode":"raw","raw":"","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/auth/login?email=your@email.com","description":"

Get User API Token using Franklin credentials (Email + Password)

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Returns

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Access Token (Bearer Token) that can be leveraged for future API Calls

\n","auth":{"type":"noauth","isInherited":true,"source":{"_postman_id":"16b11a28-c537-467a-acbb-5d871fb26b07","id":"16b11a28-c537-467a-acbb-5d871fb26b07","name":"Authentication","type":"folder"}},"urlObject":{"protocol":"https","path":["v1","auth","login"],"host":["api","genoox","com"],"query":[{"description":{"content":"

your user email address

\n","type":"text/plain"},"key":"email","value":"your@email.com"}],"variable":[]}},"response":[{"id":"ed13fdb4-b81e-4e4d-959d-7bdc8a1e59b2","name":"Authentication","originalRequest":{"method":"GET","header":[{"key":"Authorization","value":"password","type":"text"}],"url":{"raw":"https://api.genoox.com/v1/auth/login?email=test@genoox.com","protocol":"https","host":["api","genoox","com"],"path":["v1","auth","login"],"query":[{"key":"email","value":"test@genoox.com","description":"your user email address"}]}},"status":"OK","code":200,"_postman_previewlanguage":"json","header":[{"key":"Server","value":"nginx/1.14.0 (Ubuntu)","enabled":true},{"key":"Date","value":"Mon, 19 Oct 2020 17:37:02 GMT","enabled":true},{"key":"Content-Type","value":"application/json; charset=utf-8","enabled":true},{"key":"Content-Length","value":"1544","enabled":true},{"key":"Connection","value":"keep-alive","enabled":true},{"key":"content-encoding","value":"gzip","enabled":true},{"key":"Access-Control-Allow-Origin","value":"*","enabled":true},{"key":"Access-Control-Allow-Methods","value":"GET, POST, PUT, OPTIONS, DELETE","enabled":true},{"key":"Access-Control-Allow-Headers","value":"DNT,User-Agent,X-Requested-With,If-Modified-Since,Cache-Control,Content-Type,Range,Authorization","enabled":true},{"key":"Access-Control-Expose-Headers","value":"Content-Length,Content-Range","enabled":true}],"cookie":[],"responseTime":null,"body":"{\n \"token\": \"eyJhbGciOiJSUzI1NiIsInR5cCI6IkpXVCIsImtpZCI6Ik1ETTBSVGhDTnpORVJEVTBRVFpEUVRNNE4wSkdSRGszUWpZMU1EYzVSVGswTURVek56VkdSZyJ9.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.zhjjsg0mXIy0OdBepDu_66JhKX-yLiLsLWTEKd4dCE2WyE6hc9g42W8RsmqcZ6ww29vNjGKwdaluYqKfbiKDSWE_rf00jBlq18xAkzy55QcfvUlOGZADwA6nx3VbTVskq47CUD9WyT7AXnJrC6PPxL233mbyUuDGN1CGdqlRR1NLU-mvpb9E8aqP7kQbcsWLWG3dI4d_d3ZAZrGsvKmoBgjq45c1FPrnMF20WHi-PUQSeTKx8Slo9tZ8ug6YozCI15nJoEMteUxbizx_MJT9jsdP9o_GSqof93VYevmXKsPQD0SiW_jVkZYYh8YFjkZixb_mvMdVEI4GtsTmiANyhw\",\n \"duration\": 86400,\n \"expires_at\": 1608149459908\n}"}],"_postman_id":"2a24bb66-846d-4a97-8b53-6f283f8b51e1"}],"id":"16b11a28-c537-467a-acbb-5d871fb26b07","description":"

Get User API Token using credentials (Email + Password)

\n","auth":{"type":"noauth","isInherited":false},"event":[{"listen":"prerequest","script":{"id":"b3404778-3e22-4ac2-8c21-5ad7dac6243b","type":"text/javascript","exec":[""]}},{"listen":"test","script":{"id":"4fb06db7-3ac5-4aaf-b5d5-8e549b85ac03","type":"text/javascript","exec":[""]}}],"_postman_id":"16b11a28-c537-467a-acbb-5d871fb26b07"},{"name":"Assay","item":[{"name":"Get Assay List","id":"88af8024-5a7d-4f6f-9ef0-8296e2ad549a","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":""}]},"isInherited":false},"method":"GET","header":[],"url":"https://api.genoox.com/v1/assay/list","urlObject":{"protocol":"https","path":["v1","assay","list"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"48d0ee70-f2f9-4cfd-a909-13c4a9c3f1a3","name":"Get Assay List","originalRequest":{"method":"GET","header":[],"url":"https://api.genoox.com/v1/assay/list"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n \"assays\": [\n {\n \"id\": \"7606dc0q-2e93-4967-9e4b-db85b128c5da\",\n \"name\": \"Exome\"\n },\n {\n \"id\": \"bd0bf7eb-557d-4581-bc76-6bcef59a355a\",\n \"name\": \"Panel\"\n }\n ]\n}"}],"_postman_id":"88af8024-5a7d-4f6f-9ef0-8296e2ad549a"}],"id":"6b407caa-5e02-419b-a2f8-32cd0821c147","description":"

Get a list of all organization assays.

\n","_postman_id":"6b407caa-5e02-419b-a2f8-32cd0821c147","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}}},{"name":"Cases management","item":[{"name":"Create Case (Explicit approach)","id":"093c1516-9707-4142-8651-c62e3ff1b748","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":""}]},"isInherited":false},"method":"POST","header":[],"body":{"mode":"raw","raw":"{\r\n \"upload_specs\": {\r\n \"source\": \"AWS\",\r\n \"details\": {\r\n \"bucket\": \"bucket-name\",\r\n \"root_folder\": \"/\"\r\n }\r\n },\r\n \"analyses\": [\r\n {\r\n \t\"assay_id\": \"\",\r\n \"sample_data\": {\r\n \"sample_name\": \"Name of Sample\",\r\n \"aws_files\": [\r\n { \"key\": \"/samples/wes/1.hard-filtered.vcf.gz\", \"type\": \"VCF_SHORT\" },\r\n { \"key\": \"/samples/wes/1.cnv_downsampled.vcf.gz\", \"type\": \"VCF_SV\" },\r\n { \"key\": \"/samples/wes/1.sv.vcf.gz\", \"type\": \"VCF_SV\" },\r\n { \"key\": \"/samples/wes/1.bam\", \"type\": \"DNA_BAM\" },\r\n { \"key\": \"/samples/wes/1.bam.bai\", \"type\": \"DNA_BAI\" }\r\n ],\r\n \"patient_details\": {\r\n \"name\": \"name name\",\r\n \"dob\": \"2020-10-20\",\r\n \"ethnicitiy\": \"Ashkenazi Jewish\",\r\n \"sex\": \"Male\",\r\n \"description\": \"tom-test-description\"\r\n }\r\n \r\n }\r\n }\r\n ]\r\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/analyses/create","description":"

Create case in Franklin with specifying the exact files path is S3.

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Multiple files type are supported.

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Response is a array of analysis ID's

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Custom fields such as \"tissue_type\", \"physician\" can be customized per account. For more information contact your account manager.

\n","urlObject":{"protocol":"https","path":["v1","analyses","create"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"955e0632-e686-463a-b4dd-bbf1b8c36dfe","name":"Germline Single case","originalRequest":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\r\n \"upload_specs\": {\r\n \"source\": \"AWS\",\r\n \"details\": {\r\n \"bucket\": \"bucket-name\",\r\n \"root_folder\": \"/\"\r\n }\r\n },\r\n \"analyses\": [\r\n {\r\n \"assay_id\": \"ADD ASSAY UUID\",\r\n \"sample_data\": {\r\n \"sample_name\": \"Name of Sample\",\r\n \"name_in_vcf\": \"NAME-IN-VCF-SAMPLE\",\r\n \"aws_files\": [\r\n { \"key\": \"/path/to/test1/short.vcf\", \"type\": \"VCF_SHORT\" },\r\n { \"key\": \"/path/to/test1/snv.vcf\", \"type\": \"VCF_SV\" }\r\n ],\r\n \"include_secondary_findings\": false,\r\n \"tissue_type\": \"Whole Blood\",\r\n \"order_number\": \"12345\",\r\n \"collected_at\": \"2000-01-15\",\r\n \"received_at\": \"2000-01-15\",\r\n \"physician\": \"Dr. Who\",\r\n \"ordering_institution\": \"OC Lab\",\r\n \"patient_details\": {\r\n \"name\": \"First Last\",\r\n \"dob\": \"2020-10-20\",\r\n \"ethnicity\": \"Ashkenazi Jewish\",\r\n \"sex\": \"Male\",\r\n \"phenotypes\": [\r\n \"hpo term or id1\",\r\n \"hpo term or id 2\"\r\n ]\r\n }\r\n }\r\n }\r\n ]\r\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/analyses/create"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\r\n [17]\r\n}"},{"id":"85e14b15-868f-4d31-861a-fd9b04c8e63f","name":"Germline Family case","originalRequest":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\r\n \"upload_specs\": {\r\n \"source\": \"AWS\",\r\n \"details\": {\r\n \"bucket\": \"genoox-upload-organization-name\",\r\n \"root_folder\": \"/\"\r\n }\r\n },\r\n \"analyses\": [\r\n {\r\n \"assay_id\": \"ADD ASSAY UUID\",\r\n \"sample_data\": {\r\n \"sample_name\": \"HG002\",\r\n \"aws_files\": [\r\n {\r\n \"key\": \"samples/vcf/case1/HG002.novaseq.wes-agilent.100x.gatk4.grch37.vcf\",\r\n \"type\": \"VCF_SHORT\"\r\n }\r\n ],\r\n \"include_secondary_findings\": false,\r\n \"tissue_type\": \"Whole Blood\",\r\n \"order_number\": \"12345\",\r\n \"collected_at\": \"2000-01-15\",\r\n \"received_at\": \"2000-01-15\",\r\n \"physician\": \"Dr. Who\",\r\n \"ordering_institution\": \"OC Lab\",\r\n \"patient_details\": {\r\n \"name\": \"First Last\",\r\n \"dob\": \"2020-10-20\",\r\n \"ethnicity\": \"Ashkenazi Jewish\",\r\n \"sex\": \"Male\",\r\n \"phenotypes\": [\r\n \"hpo term or id1\",\r\n \"hpo term or id 2\"\r\n ]\r\n }\r\n }\r\n },\r\n {\r\n \"assay_id\": \"ADD ASSAY UUID\",\r\n \"sample_data\": {\r\n \"sample_name\": \"HG003\",\r\n \"aws_files\": [\r\n {\r\n \"key\": \"samples/vcf/case1/HG003.novaseq.wes-agilent.100x.gatk4.grch37.vcf\",\r\n \"type\": \"VCF_SHORT\"\r\n }\r\n ],\r\n \"include_secondary_findings\": false,\r\n \"patient_details\": {\r\n \"name\": \"mother name\",\r\n \"dob\": \"1985-02-02\",\r\n \"sex\": \"Female\",\r\n \"phenotypes\": []\r\n }\r\n }\r\n },\r\n {\r\n \"assay_id\": \"\",\r\n \"sample_data\": {\r\n \"sample_name\": \"HG004\",\r\n \"aws_files\": [\r\n {\r\n \"key\": \"HG004.novaseq.wes-agilent.100x.gatk4.grch37.vcf\",\r\n \"type\": \"VCF_SHORT\"\r\n }\r\n ],\r\n \"include_secondary_findings\": false,\r\n \"patient_details\": {\r\n \"name\": \"father name\",\r\n \"dob\": \"1985-03-03\",\r\n \"phenotypes\": []\r\n }\r\n }\r\n }\r\n ],\r\n \"family_analyses\": [\r\n {\r\n \"case_name\": \"family case from api\",\r\n \"include_secondary_findings\": false,\r\n \"phenotypes\": [\r\n \"cancer\"\r\n ],\r\n \"family_samples\": [\r\n {\r\n \"sample_name\": \"HG002\",\r\n \"family_relation\": \"proband\",\r\n \"is_affected\": true\r\n },\r\n {\r\n \"sample_name\": \"HG003\",\r\n \"family_relation\": \"mother\",\r\n \"is_affected\": false\r\n },\r\n {\r\n \"sample_name\": \"HG004\",\r\n \"family_relation\": \"father\",\r\n \"is_affected\": false\r\n }\r\n ]\r\n }\r\n ]\r\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/analyses/create"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n [17,18,19,20]\n}"},{"id":"d0df848c-9ed1-47d7-8957-3df212dc9f25","name":"Somatic case","originalRequest":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\r\n \"upload_specs\": {\r\n \"source\": \"AWS\",\r\n \"details\": {\r\n \"bucket\": \"bucket-name\",\r\n \"root_folder\": \"/\"\r\n }\r\n },\r\n \"analyses\": [\r\n {\r\n \t\"assay_id\": ,\r\n \"sample_data\": {\r\n \"sample_name\": \"Name of Sample\",\r\n \"name_in_vcf\": \"NAME-IN-VCF-SAMPLE\",\r\n \"aws_files\": [\r\n { \"key\": \"/path/to/test1/short.vcf\", \"type\": \"VCF_SHORT\" },\r\n { \"key\": \"/path/to/test1/fusion.final\", \"type\": \"VCF_SV\" }\r\n ],\r\n \"patient_details\": {\r\n \"name\": \"name name\",\r\n \"dob\": \"2020-10-20\",\r\n \"ethnicitiy\": \"Ashkenazi Jewish\",\r\n \"sex\": \"Male\",\r\n \"cancer_type\": \"lung cancer\"\r\n },\r\n \"bio_markers\": {\r\n \"tmb\": { \"value\": 100.1, \"level\": \"LOW\" },\r\n \"msi\": { \"value\": 15.2, \"level\": \"HIGH\" }\r\n }\r\n }\r\n }\r\n ]\r\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/analyses/create"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\r\n [17]\r\n}"}],"_postman_id":"093c1516-9707-4142-8651-c62e3ff1b748"},{"name":"Create Case (Implicit approach)","id":"ff3a88c4-6d36-4dca-bceb-2bf8e17d1b6c","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"url":"https://api.genoox.com/v1/shell_case/create","description":"

Description

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This API allows creating a case with full accession details (patient demographics and clinical info, sample info, ordering info, assignee, etc.).

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Case created as s shell case in “Pending sample” state (before sample upload), which accessioners can edit manually. When samples are uploaded later, they will automatically associate to the case and start the pipeline.

\n

When samples are uploaded, they will automatically assosiated to the case and start the pipeline.

\n

Naming & File Location Rules

\n
    \n

  • case_name must be unique

    \n
    • \n

  • sample_name must be unique

    \n
    • \n

  • Sample files must begin with the sample_name

    \n
    • \n

  • Each sample must have a dedicated folder

    \n
    • \n

  • Folder name must be the same as the sample_name in the request

    \n
    • \n
\n

Sample files location

\n

samples_data[].sample_files_location.location must be one of:

\n
    \n

  • \"AWS\"

    \n
    • \n

  • \"BASESPACE\"

    \n
    • \n
\n

If location is \"BASESPACE\", you must also provide:

\n
    \n

  • basespace_project

    \n
    • \n

  • basespace_sample

    \n
    • \n
\n

Case Types

\n

Single case: case_type must be \"single\"

\n

Family case: case_type must be \"family\" , Each sample inside samples_data must include family_relation

\n

Valid family_relation values: proband, father, mother, sibling, maternal grandfather, maternal grandmother, paternal grandfather, paternal grandmother, father sibling, mother sibling, father relative, mother relative

\n

Hidden case option:

\n

You can set \"create_analysis\": \"false\" to create the case but keep it hidden.

\n

There is an option to use this method in two steps:

\n
    \n

  1. Create the sheel case using this API

    \n
    2. \n

  2. Link sample fiels to the shell case with exl using https://api.genoox.com/v1/shell_case/link API

    \n
    3. \n
\n

Please note that this API requieres a configuration by Genoox professional services team.

\n

For more information contact your account manager

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","shell_case","create"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"900731a7-cafe-49a1-91ac-f823b4ce63d9","name":"Germline (source is AWS)","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"The case name in Franklin\",\n \"case_type\": \"single\",\n \"samples_data\": [\n {\n \"sample_name\": \"The sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe\",\n \"dob\": \"yyyy-mm-dd\",\n \"sex\": \"male\",\n \"phenotypes\": [\n \"pheno1\",\n \"pheno2\"\n ],\n \"ethnicities\": [\"Scottish\"]\n },\n \"hard_panels\": [\"hard panel name\"],\n \"hard_panel_single_genes\": [\"GENE1\", \"GENE2\"],\n \"sample_files_location\": {\n \"location\": \"AWS\"\n }\n }\n ],\n \"assay_id\": \"90f55063-ea9f-4aea-a1f3-cfa3b905510c\",\n \"assigned_to\": \"user email\",\n \"virtual_panels\": [\"panel 1\", \"panel 2\"],\n \"labels\": [\"label1\", \"label2\"],\n \"batch_name\": \"The batch name\",\n \"extra_case_details\": {\n \"tissue_type\": \"Whole blood\",\n \"accession\": \"123456\",\n \"collected_at\": \"mm/dd/yyyy\",\n \"received_at\": \"mm/dd/yyyy\",\n \"patient_id\": \"123456\",\n \"ordering_institution\": \"Hospital name\",\n \"physician\": \"Dr. Dan\"\n }\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/shell_case/create"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","enabled":true,"type":"text"}],"cookie":[],"responseTime":null,"body":""},{"id":"5df49b67-b33c-4393-98f5-4856f829dcb1","name":"Germline Family (source is AWS)","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"the familiy case name\",\n \"case_type\": \"family\",\n \"samples_data\": [\n{\n \"sample_name\": \"proband sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe 298\",\n \"sex\": \"male\",\n \"phenotypes\": [\n \"headache\"\n ],\n \"ethnicities\": [\n \"Irish\"\n ]\n },\n \"sample_files_location\": {\n \"location\": \"AWS\"\n },\n \"family_relation\": \"proband\",\n \"sample_name_in_multi_sample_vcf\" : \"sampele name in the vcf\",\n \"create_analysis\": \"false\"\n }, \n{\n \"sample_name\": \"mother sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe 297\",\n \"dob\": \"1965-12-20\",\n \"sex\": \"female\",\n \"phenotypes\": [\n \"headache\"\n ],\n \"ethnicities\": [\n \"Scottish\"\n ]\n },\n \"sample_files_location\": {\n \"location\": \"AWS\"\n },\n \"family_relation\": \"mother\",\n \"sample_name_in_multi_sample_vcf\" : \"sampele name in the vcf\",\n \"create_analysis\": \"false\",\n \"affected\": \"true\"\n },\n{\n \"sample_name\": \"father sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe 299\",\n \"dob\": \"1965-12-20\",\n \"sex\": \"male\",\n \"phenotypes\": [\n \"headache\",\n \"cancer\"\n ],\n \"ethnicities\": [\n \"Scottish\"\n ]\n },\n \"sample_files_location\": {\n \"location\": \"AWS\"\n },\n \"family_relation\": \"father\",\n \"sample_name_in_multi_sample_vcf\" : \"sampele name in the vcf\",\n \"create_analysis\": \"false\"\n }\n ],\n \"assay_id\": \"e878d67b-f301-4fb1-8256-77db1a6f9cbb\",\n \"assigned_to\": \"user email\",\n \"virtual_panels\": [\n \"panel 1 - optional\",\n \"panel 2 - optional\"\n ],\n \"labels\": [\n \"label1 - optional\",\n \"label2 - optional\"\n ],\n \"batch_name\": \"The batch name\",\n \"extra_case_details\": {\n \"tissue_type\": \"optional\",\n \"patient_id\": \"optional\",\n \"ordering_institution\": \"optional\",\n \"physician\": \"optional\"\n }\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/shell_case/create"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","enabled":true}],"cookie":[],"responseTime":null,"body":""},{"id":"3059c037-ceb1-4ae7-b817-819574e6946f","name":"Germline (source is BaseSpace)","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"The case name in Franklin\",\n \"case_type\": \"single\",\n \"samples_data\": [\n {\n \"sample_name\": \"The sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe\",\n \"dob\": \"yyyy-mm-dd\",\n \"sex\": \"male\",\n \"phenotypes\": [\n \"pheno1\",\n \"pheno2\"\n ],\n \"ethnicities\": [\"Scottish\"]\n },\n \"hard_panels\": [\"hard panel name\"],\n \"hard_panel_single_genes\": [\"GENE1\", \"GENE2\"],\n \"sample_files_location\": {\n \"location\": \"BASESPACE\",\n \"basespace_project\": \"...\",\n \"basespace_sample\": \"...\"\n }\n }\n ],\n \"assay_id\": \"90f55063-ea9f-4aea-a1f3-cfa3b905510c\",\n \"assigned_to\": \"user email\",\n \"virtual_panels\": [\"panel 1\", \"panel 2\"],\n \"labels\": [\"label1\", \"label2\"],\n \"batch_name\": \"The batch name\",\n \"extra_case_details\": {\n \"tissue_type\": \"Whole blood\",\n \"accession\": \"123456\",\n \"collected_at\": \"mm/dd/yyyy\",\n \"received_at\": \"mm/dd/yyyy\",\n \"patient_id\": \"123456\",\n \"ordering_institution\": \"Hospital name\",\n \"physician\": \"Dr. Dan\"\n }\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/shell_case/create"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","enabled":true,"type":"text"}],"cookie":[],"responseTime":null,"body":""},{"id":"51d0fb25-4561-4300-9e7d-2d3cec6af813","name":"Somatic (source is AWS)","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"The case name in Franklin\",\n \"case_type\": \"single\",\n \"samples_data\": [\n {\n \"sample_name\": \"The sample name\",\n \"description\": \"The case description\",\n \"patient_details\": {\n \"name\": \"Jon Doe\",\n \"dob\": \"yyyy-mm-dd\",\n \"sex\": \"male\",\n \"cancer_type\": \"cancer type\"\n },\n \"sample_files_location\": {\n \"location\": \"AWS\"\n }\n }\n ],\n \"assay_id\": \"90f55063-ea9f-4aea-a1f3-cfa3b905510c\",\n \"assigned_to\": \"user email\",\n \"virtual_panels\": [\"panel 1\", \"panel 2\"],\n \"labels\": [\"label1\", \"label2\"],\n \"batch_name\": \"The batch name\",\n \"extra_case_details\": {\n \"tissue_type\": \"Whole blood\",\n \"collected_at\": \"mm/dd/yyyy\",\n \"received_at\": \"mm/dd/yyyy\",\n \"patient_id\": \"123456\",\n \"ordering_institution\": \"Hospital name\",\n \"physician\": \"Dr. Dan\"\n }\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/shell_case/create"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text"}],"cookie":[],"responseTime":null,"body":""}],"_postman_id":"ff3a88c4-6d36-4dca-bceb-2bf8e17d1b6c"},{"name":"Create Case from existing sample","id":"bcba6dd8-1f6e-4588-89b0-ad1c2f4ca15b","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"url":"https://api.genoox.com/v1/analyses/create_from_samples","description":"

This API enables to to creare a new case from a sample/case that alreadt exists in Franklin.

\n
    \n

  • \"case_name\": should be unique

    \n
    • \n

  • \"sample_name\" (single case creation): should be same as an existing sample. You can list all samples using POST https://api.genoox.com/v1/samples/list

    \n
    • \n

  • \"analyses name\" (family case creation) : should be same as an existing single case

    \n
    • \n

  • All other metadate of the new case are simillar as the payload of Create Analysis (Shell case)

    \n
    • \n
\n

Please note that this API requieres a configuration by Genoox professional services team.

\n

For more information contact your account manager

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","analyses","create_from_samples"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"d68ebb47-e6da-44db-bad3-b51978bd8180","name":"Germline Single","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"The case name in Franklin\",\n \"samples_data\":\n [\n {\n \"sample_name\": \"The existing sample name\"\n }\n ],\n \"description\": \"The case description\",\n \"patient_details\":\n {\n \"name\": \"Jon Doe\",\n \"patient_id\": \"123456\"\n },\n \"phenotypes\":\n [\n \"pheno1\",\n \"pheno2\"\n ],\n \"hard_panels\":\n [\n \"hard panel name\"\n ],\n \"hard_panel_single_genes\":\n [\n \"GENE1\",\n \"GENE2\"\n ],\n \"assay_id\": \"90f55063-ea9f-4aea-a1f3-cfa3b905510c\",\n \"virtual_panels\":\n [\n \"panel 1\",\n \"panel 2\"\n ],\n \"labels\":\n [\n \"label1\",\n \"label2\"\n ],\n \"extra_case_details\":\n {\n \"tissue_type\": \"Whole blood\",\n \"accession\": \"123456\",\n \"collected_at\": \"dd/mm/yyyy\",\n \"received_at\": \"dd/mm/yyyy\",\n \"patient_id\": \"123456\",\n \"ordering_institution\": \"Hospital name\",\n \"physician\": \"Dr. Dan\"\n }\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/analyses/create_from_samples"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text","enabled":true}],"cookie":[],"responseTime":null,"body":"{\n \"analysis_id\": \"1\", \n \"analysis_name\": \"The case name in Franklin\"\n}"},{"id":"85cf2d9a-3fdb-47df-8c6b-7bf760b50b6e","name":"Germline Family","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"case_name\": \"Family Case name\",\n \"case_type\": \"family\",\n \"family_samples_data\": [\n {\n \"analysis_name\": \"proband analyses name\",\n \n \"family_relation\": \"proband\",\n \"patient_details\": {\n \"phenotypes\": [\n \"Pheno 1\",\n \"Pheno 2\"\n ]\n }\n },\n {\n \"analysis_name\": \"mother analyses name\",\n \"family_relation\": \"mother\",\n \"affected\": false\n },\n {\n \"analysis_name\": \"father analyses name\",\n \"family_relation\": \"father\",\n \"affected\": true\n }\n ],\n \"labels\": [\n \"Label1\",\n \"Label2\"\n ],\n \"virtual_panels\": [\n \"panel 1\",\n \"panel 2\"\n ],\n \"description\": \"case description\",\n \"assigned_to\": \"assignee email\"\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/shell_case/create"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n \"analysis_id\": \"1\", \n \"analysis_name\": \"The case name in Franklin\"\n}"}],"_postman_id":"bcba6dd8-1f6e-4588-89b0-ad1c2f4ca15b"},{"name":"Get samples for a given subject(s)","id":"56d449fa-9ef0-471a-925d-8b734c2a07da","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\n \"subject_names\":\n [\n \"2510697\"\n ]\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/samples/list","description":"

Retrieve all samples, and sample files, associated with a given subject (patient).

\n

In the Genoox platform, a subject represents a patient, and each subject can have multiple samples. This endpoint allows you to retrieve all samples tied to one or more subject names.

\n

When a new sample is created, the default behavior is to assign the sample name as the subject name.

\n

This endpoint is useful for querying all samples tied to a particular patient, in order to use it as a reference to create a new case (annotation, panel, etc.) from existing sample using this /analyses/create_from_samples API

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","samples","list"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"b1b6af84-5198-455f-8abe-60e5783d624a","name":"Get samples for a given subject(s):","originalRequest":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\n \"subject_names\":\n [\n \"1234\"\n ]\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/samples/list"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n \"samples\": [\n {\n \"sample_id\": 7685,\n \"sample_name\": \"exome_7685\",\n \"subject_name\": \"exome_7685\",\n \"subject_sex\": \"Female\",\n \"sample_files\": [\n \"exome_7685-rainbow.vcf.gz\",\n \"exome_7685-mutect-mitochondria.final.vcf.gz\",\n \"exome_7685-freebayes.final.vcf.gz\",\n \"exome_7685-gatk-haplotype.final.vcf.gz\",\n \"exome_7685-ready.bam\",\n \"exome_7685-ready.bam.bai\",\n \"exome_7685.fastq.gz\",\n \"exome_7685.fastq.gz\"\n ]\n }\n ]\n}"}],"_postman_id":"56d449fa-9ef0-471a-925d-8b734c2a07da"},{"name":"Get Cases List","id":"15992307-03ec-4bdc-b0ae-e18db898ebdd","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"GET","header":[],"url":"https://api.genoox.com/v1/analyses/list?analysis_name=&status=active&created_before=2019-01-01&created_after=2018-01-01&assayId=620434fa-e367-425a-vbnb-n3g7ha10c7a&get_hidden_analyses=false","description":"

returns a list of all organization cases

\n

Optional:

\n

You can pass query params to filter the results of returned values. Supported fields are:

\n

analysis_name - (optional) - Filter by the name of the analysis
status - (optional) - Filter by the status of the analysis (active\\suspended\\resolved\\creating)
created_before - (optional) - Filter by the date of creation, before (date format it yyyy-MM-dd)
created_after - (optional) - Filter by the date of creation, after (yyyy-MM-dd)
assayId - (optional) - (optional) - Filter by the date of creation, after (yyyy-MM-dd)

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","analyses","list"],"host":["api","genoox","com"],"query":[{"description":{"content":"

(optional) - Filter by the name of the analysis

\n","type":"text/plain"},"key":"analysis_name","value":""},{"description":{"content":"

(optional) - Filter by the status of the analysis (active\\suspended\\resolved\\creating)

\n","type":"text/plain"},"key":"status","value":"active"},{"description":{"content":"

(optional) - Filter by the date of creation, before (date format it yyyy-MM-dd)

\n","type":"text/plain"},"key":"created_before","value":"2019-01-01"},{"description":{"content":"

(optional) - Filter by the date of creation, after (yyyy-MM-dd)

\n","type":"text/plain"},"key":"created_after","value":"2018-01-01"},{"description":{"content":"

(optional) - Filter by the date of creation, after (yyyy-MM-dd)

\n","type":"text/plain"},"key":"assayId","value":"620434fa-e367-425a-vbnb-n3g7ha10c7a"},{"description":{"content":"

(optional) - If true, then hidden cases returns, default is false

\n","type":"text/plain"},"key":"get_hidden_analyses","value":"false"}],"variable":[]}},"response":[{"id":"652908aa-2ee4-40a8-afe0-7fd7ed71b392","name":"Get Analyses List","originalRequest":{"method":"GET","header":[],"url":"https://api.genoox.com/v1/analyses/list"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\r\n \"analyses_by_assay\": {\r\n \"0e8389ee-b6ee-41f0-8eca-093e115e7064\": [\r\n 217,\r\n 183\r\n ],\r\n \"fd163e5f-a266-40e9-8ada-b96669634fd4\": [\r\n 202,\r\n 301,\r\n 289,\r\n 233,\r\n 493,\r\n 519,\r\n 615,\r\n 356,\r\n 593,\r\n 371,\r\n 311,\r\n 530,\r\n 335,\r\n 540,\r\n 208,\r\n 240,\r\n 685,\r\n 394,\r\n 438,\r\n 295,\r\n 263,\r\n 199,\r\n 370,\r\n 576,\r\n 571,\r\n 627,\r\n 539,\r\n 667,\r\n 315,\r\n 283,\r\n 178,\r\n 501,\r\n 227\r\n ],\r\n \"91a55b3b-b33d-4d68-b506-292fdb703892\": [\r\n 206\r\n ],\r\n \"3130e199-bda9-4375-8de0-eb925e5326c0\": [\r\n 381\r\n ],\r\n \"no-assay-configured\": [\r\n 629,\r\n 347,\r\n 333,\r\n 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Retrieves detailed information about a specific analysis (case) by its ID.

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This endpoint returns comprehensive information including:

\n
    \n

  • Basic analysis metadata (name, type, status)

    \n
    • \n

  • Sample information

    \n
    • \n

  • Patient/subject details

    \n
    • \n

  • Phenotypes and panels

    \n
    • \n

  • Processing status and annotation versions

    \n
    • \n
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Note: Family analyses will include additional family_samples_relation data with information about each family member.

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Retrieve the processing status for the cases

\n

Return value is limited to 100 analyses

\n

Input

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Required: An array of analysis ID in the request body
{
\"analysis_ids\": [17,18]
}

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An API endpoint provides a download link to an Excel file containing variants marked for Orthogonal Confirmation.

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Required Parameter:

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    \n
  • analysis_id
    • \n
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An API endpoint that returns a JSON with annotated variants present in the WB, along with case details.

\n

Required Parameter:

\n
    \n
  • analysis_id
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\"uk_twin_frequency\": {\n \"an\": 145,\n \"af\": 0.03910463861920173\n }\n },\n \"predictions\": {\n \"dbsnp\": \"rs13078881\",\n \"aggregated_predictions\": 0.7351123595505618,\n \"mt\": 0.991903,\n \"revel\": 0.769,\n \"fathmm\": -3.72,\n \"metalr\": 0.7567,\n \"genocanyon\": 0.999993304002011,\n \"gerp\": 3.8,\n \"ma\": 3.055,\n \"sift\": 0.003,\n \"fitcons\": 0.706298,\n \"splice_ai\": 0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 38\n },\n {\n \"level\": \"OTHER\",\n \"count\": 3\n },\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 3\n },\n {\n \"level\": \"LIKELY_PATHOGENIC\",\n \"count\": 3\n }\n ]\n },\n \"uniprot\": {}\n },\n \"internal_frequency\": {\n \"internal_frequency\": 0.0456621,\n \"internal_sample_count\": 10\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n 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\"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ],\n \"user_classification\": \"Likely Benign\"\n },\n \"priority\": {\n \"score\": 0.0006663964642331336\n },\n \"variant_franklin_link\": 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\"transcript_type\": \"ENSEMBL\",\n \"genes\": [\n \"KMT2B\",\n \"ZBTB32\"\n ],\n \"region\": \"OTHER_REGION\",\n \"effect\": \"OTHER_IMPACT\"\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"genes\": [\n \"KMT2B\",\n \"ZBTB32\"\n ],\n \"region\": \"EXONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_014727.3\",\n \"closest_exon\": 0,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"cytobands\": \"19q13.12\"\n },\n \"classification\": {\n \"classification\": \"LIKELY_PATHOGENIC\",\n \"evidences\": [\n {\n \"name\": \"1A\",\n \"score\": 0,\n \"is_met\": true\n },\n {\n \"name\": \"1B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"2A_2E\",\n \"score\": 0.9,\n \"is_met\": true,\n \"sub_evidences\": [\n {\n \"name\": \"2A\",\n \"score\": 0,\n \"is_met\": true\n },\n {\n \"name\": \"2B\",\n \"score\": 0,\n \"is_met\": true\n },\n {\n \"name\": \"2C\",\n \"score\": 0.9,\n \"is_met\": true\n },\n {\n \"name\": \"2D\",\n \"score\": 0,\n \"is_met\": true\n },\n {\n \"name\": \"2E\",\n \"score\": 0,\n \"is_met\": true\n }\n ]\n },\n {\n \"name\": \"2F_2G\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"2F\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"2G\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"2H\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"3A\",\n \"score\": 0,\n \"is_met\": true\n },\n {\n \"name\": \"3B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"3C\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4A_4C\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4A\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4C\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4D_4E\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4D\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4E\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4F_4H\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4F\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4G\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4H\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4I_4K\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4I\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4J\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4K\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4L_4O\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4L\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4M\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4N\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4O\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"5A\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5B_5E\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"5B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5C\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5D\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5E\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"5F_5H\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"5G\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5H\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n }\n ]\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/sv/chr19-35717930-35718349-DEL-HG38\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr22\",\n \"start_position\": 18517366,\n \"end_position\": 18916998,\n \"sv_type\": \"DEL\",\n \"length\": 399633\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"zygosity\": \"HET\",\n \"copy_number\": 1.2,\n \"start_confidence\": \"(0,0)\",\n \"end_confidence\": \"(0,0)\"\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"genes\": [\n \"PRODH\",\n \"FAM230E\",\n \"POM121L15P\",\n \"GGTLC3\",\n \"GGT3P\",\n \"TMEM191B\",\n \"PI4KAP1\",\n \"FAM246B\",\n \"DGCR6\",\n \"RIMBP3\",\n \"FAM230F\"\n ],\n \"region\": \"OTHER_REGION\",\n \"effect\": \"OTHER_IMPACT\"\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"genes\": [\n \"PRODH\",\n \"FAM230E\",\n \"POM121L15P\",\n \"GGTLC3\",\n \"GGT3P\",\n \"TMEM191B\",\n \"PI4KAP1\",\n \"FAM246B\",\n \"DGCR6\",\n \"RIMBP3\",\n \"FAM230F\"\n ],\n \"region\": \"EXONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_016335.6\",\n \"closest_exon\": 0,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"occurrences\": {\n \"aggregated_occurrences\": 36,\n \"dgv_occurrences\": 36,\n \"internal_occurrences\": 28\n },\n \"cytobands\": \"22q11.21\"\n },\n 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\"3B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"3C\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4A_4C\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4A\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4C\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4D_4E\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4D\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4E\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4F_4H\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4F\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4G\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4H\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4I_4K\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4I\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4J\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4K\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"4L_4O\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"4L\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4M\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4N\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"4O\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n {\n \"name\": \"5A\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5B_5E\",\n \"score\": 0,\n \"is_met\": false,\n \"sub_evidences\": [\n {\n \"name\": \"5B\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5C\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5D\",\n \"score\": 0,\n \"is_met\": false\n },\n {\n \"name\": \"5E\",\n \"score\": 0,\n \"is_met\": false\n }\n ]\n },\n 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Retrieve a download link of the case QC metrics in a JSON format by analyses id

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An API endpoint provides a download link for the Coverage Report in CSV format (formatted as in the \"Export to Excel\" option from the Franklin Coverage Report page).

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Request Body Options:

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    \n

  • analysis_id (required): The unique identifier for the analysis.

    \n
    • \n

  • virtual_panel_ids (optional): An array of virtual panel IDs to filter the CSV by specific virtual panels.

    \n
    • \n

  • coverage_type (optional): Specifies the type of coverage, with possible values \"genes\", \"exons\", or \"kit\". The default is \"genes\".

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    • \n

  • coverage_region (optional): Defines the coverage region, with possible values \"targeted\" or \"coding\". The default is \"coding\".

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    • \n
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Get annotation for top 200 variants sorted by priority.

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12:50:24 GMT","enabled":true},{"key":"Content-Type","value":"application/json; charset=utf-8","enabled":true},{"key":"Content-Length","value":"24887","enabled":true},{"key":"Connection","value":"keep-alive","enabled":true},{"key":"content-encoding","value":"gzip","enabled":true},{"key":"Pragma","value":"no-cache","enabled":true}],"cookie":[],"responseTime":null,"body":"{\n \"variants\": [\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 94473807,\n \"end_position\": 94473807,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 88,\n \"depth_ref\": 0,\n \"depth_alt\": 88,\n \"mapping_quality\": 60.0,\n \"vaf\": 1.0,\n \"quality\": 3169.06,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 99.0,\n \"pl\": \"3183:264:0\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ABCA4\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000370225\",\n \"hgvc_p\": \"p.Gly1961Glu\",\n \"hgvc_c\": \"c.5882G>A\",\n \"transcripts_count\": 5,\n \"exon_number\": 42,\n \"transcript_exon_count\": 50,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ABCA4\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_000350.3\",\n \"hgvc_p\": \"p.Gly1961Glu\",\n \"hgvc_c\": \"c.5882G>A\",\n \"transcripts_count\": 1,\n \"exon_number\": 42,\n \"transcript_exon_count\": 50,\n \"closest_exon\": 42,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.004564418,\n \"max_gnomad_frequency\": 0.023341048508882523\n },\n \"predictions\": {\n \"dbsnp\": \"rs1800553\",\n \"aggregated_predictions\": 0.7325842696629213,\n \"mt\": 1.0,\n \"revel\": 0.76,\n \"fathmm\": -3.22,\n \"metalr\": 0.7001,\n \"genocanyon\": 0.999999999850586,\n \"gerp\": 5.35,\n \"ma\": -0.115,\n \"sift\": 0.001,\n \"polyphen2\": 0.998,\n \"fitcons\": 0.549168,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"OTHER\",\n \"count\": 3\n },\n {\n \"level\": \"RISK_FACTOR\",\n \"count\": 1\n },\n {\n \"level\": \"BENIGN\",\n \"count\": 1\n },\n {\n \"level\": \"LIKELY_PATHOGENIC\",\n \"count\": 13\n },\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n },\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 35\n }\n ]\n },\n \"uniprot\": {\n \"uniprot_id\": \"P78363\",\n \"variant_link\": \"https://www.uniprot.org/uniprot/P78363\"\n }\n }\n },\n \"classification\": {\n \"acmg_classification\": \"PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": true,\n \"phenotypes\": [\n \"mild global developmental delay\"\n ],\n \"priority\": {\n \"score\": 1.008613674235044\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-94473807-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 53793513,\n \"end_position\": 53793514,\n \"ref\": \"CA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 15,\n \"depth_ref\": 0,\n \"depth_alt\": -1,\n \"mapping_quality\": 60.0,\n \"vaf\": -0.06666666666666667,\n \"quality\": 373.05,\n \"zygosity\": \"HET\",\n \"gq\": 73.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"LRP8\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000306052\",\n \"hgvc_p\": \"p.Leu24fs\",\n \"hgvc_c\": \"c.71delT\",\n \"transcripts_count\": 8,\n \"exon_number\": 1,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"LRP8\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_004631.5\",\n \"hgvc_p\": \"p.Leu24ArgfsTer50\",\n \"hgvc_c\": \"c.71del\",\n \"transcripts_count\": 5,\n \"exon_number\": 1,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0010229048,\n \"max_gnomad_frequency\": 0.0032097003422677517\n },\n \"predictions\": {\n \"dbsnp\": \"rs761955852\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.4543864558113436\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-53793513-CA-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr7\",\n \"start_position\": 151875100,\n \"end_position\": 151875104,\n \"ref\": \"TAAAA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 25,\n \"depth_ref\": 2,\n \"depth_alt\": 8,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.32,\n \"quality\": 347.0,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"364:178:490\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"KMT2C\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000355193\",\n \"hgvc_c\": \"c.7443-9_7443-6delTTTT\",\n \"transcripts_count\": 6,\n \"exon_number\": 37,\n \"transcript_exon_count\": 59,\n \"closest_distance_to_exon\": 5\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"KMT2C\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_170606.3\",\n \"hgvc_c\": \"c.7443-9_7443-6del\",\n \"transcripts_count\": 1,\n \"exon_number\": 38,\n \"transcript_exon_count\": 59,\n \"closest_exon\": 38,\n \"closest_distance_to_exon\": 6\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs746018833\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.5453454769991585\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr7-151875100-TAAAA-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr7\",\n \"start_position\": 151970877,\n \"end_position\": 151970877,\n \"ref\": \"G\",\n \"alt\": \"A\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 316,\n \"depth_ref\": 283,\n \"depth_alt\": 33,\n \"mapping_quality\": 44.27,\n \"vaf\": 0.10443037974683544,\n \"quality\": 108.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"116:0:9080\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"KMT2C\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000355193\",\n \"hgvc_p\": \"p.Pro309Ser\",\n \"hgvc_c\": \"c.925C>T\",\n \"transcripts_count\": 3,\n \"exon_number\": 7,\n \"transcript_exon_count\": 60,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"KMT2C\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_170606.3\",\n \"hgvc_p\": \"p.Pro309Ser\",\n \"hgvc_c\": \"c.925C>T\",\n \"transcripts_count\": 1,\n \"exon_number\": 7,\n \"transcript_exon_count\": 59,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0060505536,\n \"max_gnomad_frequency\": 0.020815987139940262\n },\n \"predictions\": {\n \"dbsnp\": \"rs138627563\",\n \"aggregated_predictions\": 0.6299689440993789,\n \"mt\": 0.999999,\n \"revel\": 0.562,\n \"fathmm\": -0.45,\n \"metalr\": 0.5247,\n \"genocanyon\": 0.99999999999997,\n \"gerp\": 4.87,\n \"ma\": 2.825,\n \"sift\": 0.085,\n \"polyphen2\": 1.0,\n \"fitcons\": 0.751926,\n \"splice_ai\": 0.31\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 1\n },\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.30258410227051313\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr7-151970877-G-A\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr6\",\n \"start_position\": 33419607,\n \"end_position\": 33419607,\n \"ref\": \"C\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 45,\n \"depth_ref\": 37,\n \"depth_alt\": 8,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.17777777777777778,\n \"quality\": 98.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"106:0:1496\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SYNGAP1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000418600\",\n \"hgvc_p\": \"p.Ala1319Gly\",\n \"hgvc_c\": \"c.3956C>G\",\n \"transcripts_count\": 8,\n \"exon_number\": 19,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SYNGAP1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_006772.3\",\n \"hgvc_p\": \"p.Ala1319Gly\",\n \"hgvc_c\": \"c.3956C>G\",\n \"transcripts_count\": 3,\n \"exon_number\": 19,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"aggregated_predictions\": 0.12946666666666667,\n \"mt\": 1.0,\n \"revel\": 0.128,\n \"fathmm\": 2.33,\n \"metalr\": 0.0209,\n \"genocanyon\": 0.999999999999713,\n \"gerp\": 3.19,\n \"ma\": 0.345,\n \"sift\": 0.013,\n \"fitcons\": 0.634777,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.30120928771481\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr6-33419607-C-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr15\",\n \"start_position\": 41866015,\n \"end_position\": 41866015,\n \"ref\": \"T\",\n \"alt\": \"TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 77,\n \"depth_ref\": 43,\n \"depth_alt\": 34,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.44155844155844154,\n \"quality\": 1268.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1276:0:1698\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TYRO3\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000263798\",\n \"hgvc_c\": \"c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCC\",\n \"transcripts_count\": 7,\n \"exon_number\": 18,\n \"transcript_exon_count\": 18,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 2\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TYRO3\",\n \"region\": \"SPLICE_DONOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_006293.4\",\n \"hgvc_c\": \"c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCC\",\n \"transcripts_count\": 2,\n \"exon_number\": 18,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 2\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0033562274,\n \"max_gnomad_frequency\": 0.010709087364375591\n },\n \"predictions\": {\n \"dbsnp\": \"rs1555396736\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.1967036361404635\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr15-41866015-T-TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCC\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr19\",\n \"start_position\": 501743,\n \"end_position\": 501743,\n \"ref\": \"T\",\n \"alt\": \"TCTCCCGACACCACCTCCCAGGAGC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 83,\n \"depth_ref\": 5,\n \"depth_alt\": 24,\n \"mapping_quality\": 56.04,\n \"vaf\": 0.2891566265060241,\n \"quality\": 3833.06,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"3850:1646:2157\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"MADCAM1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000215637\",\n \"hgvc_p\": \"p.Gln254_Ser261dup\",\n \"hgvc_c\": \"c.761_784dupAGGAGCCTCCCGACACCACCTCCC\",\n \"transcripts_count\": 5,\n \"exon_number\": 4,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"MADCAM1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_130760.3\",\n \"hgvc_p\": \"p.Gln254_Ser261dup\",\n \"hgvc_c\": \"c.761_784dup\",\n \"transcripts_count\": 2,\n \"exon_number\": 4,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs1555716199\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.1967036361404635\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-501743-T-TCTCCCGACACCACCTCCCAGGAGC\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr16\",\n \"start_position\": 89260013,\n \"end_position\": 89260013,\n \"ref\": \"A\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 103,\n \"depth_ref\": 95,\n \"depth_alt\": 8,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.07766990291262135,\n \"quality\": 35.64,\n \"zygosity\": \"HET\",\n \"gq\": 43.0,\n \"pl\": \"43:0:3933\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"CDH15\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000289746\",\n \"hgvc_p\": \"p.Gln664Leu\",\n \"hgvc_c\": \"c.1991A>T\",\n \"transcripts_count\": 4,\n \"exon_number\": 12,\n \"transcript_exon_count\": 14,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"CDH15\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_004933.3\",\n \"hgvc_p\": \"p.Gln664Leu\",\n \"hgvc_c\": \"c.1991A>T\",\n \"transcripts_count\": 14,\n \"exon_number\": 12,\n \"transcript_exon_count\": 14,\n \"closest_exon\": 12,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"aggregated_predictions\": 0.7996381114358514,\n \"mt\": 0.999703,\n \"revel\": 0.699,\n \"ada\": 0.998914334307554,\n \"fathmm\": -1.12,\n \"metalr\": 0.5783,\n \"genocanyon\": 0.999999935267741,\n \"gerp\": 4.47,\n \"ma\": 3.17,\n \"sift\": 0.0,\n \"fitcons\": 0.580535,\n \"splice_ai\": 0.18\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.15146215193711454\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr16-89260013-A-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr2\",\n \"start_position\": 16080794,\n \"end_position\": 16080794,\n \"ref\": \"A\",\n \"alt\": \"ACCCCCCCCCCCC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 61,\n \"depth_ref\": 49,\n \"depth_alt\": 12,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.19672131147540983,\n \"quality\": 319.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"327:0:1883\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"MYCN\",\n \"region\": \"UTR_5\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000281043\",\n \"hgvc_c\": \"c.-184_-183insCCCCCCCCCCCC\",\n \"transcripts_count\": 7,\n \"exon_number\": 1,\n \"transcript_exon_count\": 3,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"MYCN\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_001293231.2\",\n \"hgvc_p\": \"p.Pro30_Arg31insProProProPro\",\n \"hgvc_c\": \"c.91_92insCCCCCCCCCCCC\",\n \"transcripts_count\": 8,\n \"exon_number\": 1,\n \"transcript_exon_count\": 2,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {},\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n 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\"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.101\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr9-43624907-A-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr20\",\n \"start_position\": 2597716,\n \"end_position\": 2597716,\n \"ref\": \"A\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 66,\n \"depth_ref\": 33,\n \"depth_alt\": 33,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5,\n \"quality\": 987.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"995:0:1078\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TMC2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000358864\",\n \"hgvc_c\": \"c.1941-2A>T\",\n \"transcripts_count\": 2,\n \"exon_number\": 16,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 16,\n \"closest_distance_to_exon\": 2\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TMC2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_080751.3\",\n \"hgvc_c\": \"c.1941-2A>T\",\n \"transcripts_count\": 1,\n \"exon_number\": 16,\n \"transcript_exon_count\": 20,\n \"closest_exon\": 16,\n \"closest_distance_to_exon\": 2\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.003734547,\n \"max_gnomad_frequency\": 0.006653059273958206\n },\n \"predictions\": {\n \"dbsnp\": \"rs140053393\",\n \"aggregated_predictions\": 0.799996082597867,\n \"mt\": 1.0,\n \"ada\": 0.999988247793601,\n \"genocanyon\": 0.998388230895445,\n \"gerp\": 5.35,\n \"fitcons\": 0.074388,\n \"splice_ai\": 0.65\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.101\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr20-2597716-A-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr16\",\n \"start_position\": 89260018,\n \"end_position\": 89260018,\n \"ref\": \"A\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 98,\n \"depth_ref\": 89,\n \"depth_alt\": 9,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.09183673469387756,\n \"quality\": 50.64,\n \"zygosity\": \"HET\",\n \"gq\": 58.0,\n \"pl\": \"58:0:3678\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"CDH15\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000289746\",\n \"hgvc_c\": \"c.1992+4A>T\",\n \"transcripts_count\": 4,\n \"exon_number\": 12,\n \"transcript_exon_count\": 13,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"CDH15\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_004933.3\",\n \"hgvc_c\": \"c.1992+4A>T\",\n \"transcripts_count\": 14,\n \"exon_number\": 12,\n \"transcript_exon_count\": 14,\n \"closest_exon\": 12,\n \"closest_distance_to_exon\": 4\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"aggregated_predictions\": 0.6274643011854737,\n \"ada\": 0.607681837872421,\n \"splice_ai\": 0.19\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.09835181807023174\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr16-89260018-A-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr7\",\n \"start_position\": 151875100,\n \"end_position\": 151875101,\n \"ref\": \"TA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 25,\n \"depth_ref\": 2,\n \"depth_alt\": 15,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.6,\n \"quality\": 347.0,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"364:170:135\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"KMT2C\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000355193\",\n \"hgvc_c\": \"c.7443-6delT\",\n \"transcripts_count\": 6,\n \"exon_number\": 37,\n \"transcript_exon_count\": 59,\n \"closest_distance_to_exon\": 5\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"KMT2C\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_170606.3\",\n \"hgvc_c\": \"c.7443-6del\",\n \"transcripts_count\": 1,\n \"exon_number\": 38,\n \"transcript_exon_count\": 59,\n \"closest_exon\": 38,\n \"closest_distance_to_exon\": 6\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs746018833\",\n \"splice_ai\": 0.01\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"BENIGN\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.2460787856505135\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr7-151875100-TA-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr12\",\n \"start_position\": 40877427,\n \"end_position\": 40877434,\n \"ref\": \"GACCATCA\",\n \"alt\": \"G\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 61,\n \"depth_ref\": 56,\n \"depth_alt\": 5,\n \"mapping_quality\": 58.17,\n \"vaf\": 0.08196721311475409,\n \"quality\": 33.6,\n \"zygosity\": \"HET\",\n \"gq\": 41.0,\n \"pl\": \"41:0:2336\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"MUC19\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000454784\",\n \"hgvc_p\": \"p.Pro2992fs\",\n \"hgvc_c\": \"c.8973_8979delACCATCA\",\n \"transcripts_count\": 1,\n \"exon_number\": 49,\n \"transcript_exon_count\": 84,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"MUC19\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_173600.2\",\n \"hgvc_p\": \"p.Pro3559fs\",\n \"hgvc_c\": \"c.10674_10680delACCATCA\",\n \"transcripts_count\": 1,\n \"exon_number\": 56,\n \"transcript_exon_count\": 172,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs1163167564\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n 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\"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n 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\"dbsnp\": \"rs1307300945\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n 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10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n 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\"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TLE2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000590536\",\n \"hgvc_c\": \"c.25-2A>C\",\n \"transcripts_count\": 18,\n \"exon_number\": 2,\n \"transcript_exon_count\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TLE2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_003260.5\",\n \"hgvc_c\": \"c.25-2A>C\",\n \"transcripts_count\": 4,\n \"exon_number\": 2,\n \"transcript_exon_count\": 20,\n \"closest_exon\": 2,\n \"closest_distance_to_exon\": 2\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"aggregated_predictions\": 0.7999870562033611,\n \"mt\": 1.0,\n \"ada\": 0.999961168610083,\n \"genocanyon\": 0.999999887458926,\n \"gerp\": 3.03,\n \"fitcons\": 0.206829,\n \"splice_ai\": 0.95\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n 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\"https://franklin.genoox.com/clinical-db/variant/snp/chr11-31811460-CTTTT-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 145273366,\n \"end_position\": 145273366,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 636,\n \"depth_ref\": 538,\n \"depth_alt\": 98,\n \"mapping_quality\": 53.4,\n \"vaf\": 0.1540880503144654,\n \"quality\": 1683.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1691:0:17938\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"NOTCH2NLA\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"ENST00000362074\",\n \"hgvc_p\": \"p.Arg74*\",\n \"hgvc_c\": \"c.220C>T\",\n \"transcripts_count\": 4,\n \"exon_number\": 3,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 3,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"NOTCH2NLA\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"NM_203458.5\",\n \"hgvc_p\": \"p.Arg74Ter\",\n \"hgvc_c\": \"c.220C>T\",\n \"transcripts_count\": 2,\n \"exon_number\": 3,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 3,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.008410258,\n \"max_gnomad_frequency\": 0.01386010367423296\n },\n \"predictions\": {\n \"dbsnp\": \"rs140871032\",\n \"mt\": 1.0,\n \"genocanyon\": 0.998052222785833,\n \"gerp\": 2.75,\n \"fitcons\": 0.712529,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n 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\"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.05687503357123288\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-145273366-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr14\",\n \"start_position\": 91357007,\n \"end_position\": 91357007,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 95,\n \"depth_ref\": 51,\n \"depth_alt\": 44,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.4631578947368421,\n \"quality\": 1418.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1426:0:1572\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RPS6KA5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000261991\",\n \"hgvc_p\": \"p.Asp554Asn\",\n \"hgvc_c\": \"c.1660G>A\",\n \"transcripts_count\": 4,\n \"exon_number\": 14,\n \"transcript_exon_count\": 17,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RPS6KA5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_004755.4\",\n \"hgvc_p\": \"p.Asp554Asn\",\n \"hgvc_c\": \"c.1660G>A\",\n \"transcripts_count\": 14,\n \"exon_number\": 14,\n \"transcript_exon_count\": 17,\n \"closest_exon\": 14,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0018956646,\n \"max_gnomad_frequency\": 0.009775455109775066\n },\n \"predictions\": {\n \"dbsnp\": \"rs55911249\",\n \"aggregated_predictions\": 0.31995341614906836,\n \"mt\": 1.0,\n \"revel\": 0.199,\n \"fathmm\": -0.08,\n \"metalr\": 0.3002,\n \"genocanyon\": 0.999999999999966,\n \"gerp\": 5.45,\n \"ma\": 0.545,\n \"sift\": 0.05,\n \"polyphen2\": 0.99,\n \"fitcons\": 0.615465,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {\n \"uniprot_id\": \"O75582\",\n \"variant_link\": \"https://www.uniprot.org/uniprot/O75582\"\n }\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.101\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr14-91357007-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr9\",\n \"start_position\": 111662096,\n \"end_position\": 111662096,\n \"ref\": \"A\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 59,\n \"depth_ref\": 27,\n \"depth_alt\": 32,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5423728813559322,\n \"quality\": 1093.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1101:0:882\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ELP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000374647\",\n \"hgvc_c\": \"c.2204+6T>C\",\n \"transcripts_count\": 2,\n \"exon_number\": 20,\n \"transcript_exon_count\": 36,\n \"closest_exon\": 20,\n \"closest_distance_to_exon\": 6\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ELP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_003640.5\",\n \"hgvc_c\": \"c.2204+6T>C\",\n \"transcripts_count\": 3,\n \"exon_number\": 20,\n \"transcript_exon_count\": 37,\n \"closest_exon\": 20,\n \"closest_distance_to_exon\": 6\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 6.1548897E-4,\n \"max_gnomad_frequency\": 0.01341180969029665\n },\n \"predictions\": {\n \"dbsnp\": \"rs111033171\",\n \"aggregated_predictions\": 0.6658604420456709,\n \"ada\": 0.656549653512672,\n \"splice_ai\": 0.04\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 16\n },\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n },\n {\n \"level\": \"OTHER\",\n \"count\": 2\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": true,\n \"phenotypes\": [\n \"abnormality of the nervous system\",\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 1.0071210731391984\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr9-111662096-A-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr10\",\n \"start_position\": 126495427,\n \"end_position\": 126495429,\n \"ref\": \"CAA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 58,\n \"depth_ref\": 37,\n \"depth_alt\": 20,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.3448275862068966,\n \"quality\": 373.77,\n \"zygosity\": \"HET\",\n \"gq\": 160.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ABRAXAS2\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000298492\",\n \"hgvc_p\": \"p.Gln34fs\",\n \"hgvc_c\": \"c.101_102delAA\",\n \"transcripts_count\": 2,\n \"exon_number\": 2,\n \"transcript_exon_count\": 9,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ABRAXAS2\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_032182.4\",\n \"hgvc_p\": \"p.Gln34ArgfsTer5\",\n \"hgvc_c\": \"c.101_102del\",\n \"transcripts_count\": 1,\n \"exon_number\": 2,\n \"transcript_exon_count\": 9,\n \"closest_exon\": 2,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 8.079134E-6,\n \"max_gnomad_frequency\": 6.4708168793004E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs764723314\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.707\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr10-126495427-CAA-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr4\",\n \"start_position\": 84502765,\n \"end_position\": 84502765,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 183,\n \"depth_ref\": 94,\n \"depth_alt\": 89,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.48633879781420764,\n \"quality\": 2595.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"2603:0:2969\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"AGPAT9\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"ENST00000264409\",\n \"hgvc_p\": \"p.Arg87*\",\n \"hgvc_c\": \"c.259C>T\",\n \"transcripts_count\": 2,\n \"exon_number\": 3,\n \"transcript_exon_count\": 12,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"GPAT3\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"NM_032717.5\",\n \"hgvc_p\": \"p.Arg87Ter\",\n \"hgvc_c\": \"c.259C>T\",\n \"transcripts_count\": 3,\n \"exon_number\": 3,\n \"transcript_exon_count\": 12,\n \"closest_exon\": 3,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.605085E-4,\n \"max_gnomad_frequency\": 6.192717119120061E-4\n },\n \"predictions\": {\n \"dbsnp\": \"rs149617166\",\n \"mt\": 1.0,\n \"genocanyon\": 0.999999218725971,\n \"gerp\": 4.76,\n \"fitcons\": 0.693126,\n \"splice_ai\": 0.26\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n 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\"variant\": {\n \"chromosome\": \"chr8\",\n \"start_position\": 107704940,\n \"end_position\": 107704942,\n \"ref\": \"TAA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 28,\n \"depth_ref\": 19,\n \"depth_alt\": 9,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.32142857142857145,\n \"quality\": 168.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"176:0:549\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"OXR1\",\n \"region\": \"INTRONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000442977\",\n \"hgvc_c\": \"c.529-15_529-14delAA\",\n \"transcripts_count\": 11,\n \"exon_number\": 5,\n \"transcript_exon_count\": 15,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 14\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"OXR1\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001198533.2\",\n \"hgvc_c\": \"c.526-3_526-2del\",\n \"transcripts_count\": 4,\n \"exon_number\": 7,\n \"transcript_exon_count\": 17,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 3\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.011208421,\n \"max_gnomad_frequency\": 0.023155415430665016\n },\n \"predictions\": {\n \"dbsnp\": \"rs750764834\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": 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\"zygosity\": \"HET\",\n \"gq\": 4.0,\n \"pl\": \"133:0:4\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"CNIH3\",\n \"region\": \"INTRONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000272133\",\n \"hgvc_c\": \"c.456-33_456-32delTT\",\n \"transcripts_count\": 4,\n \"exon_number\": 5,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 32\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"CNIH3\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_152495.2\",\n \"hgvc_c\": \"c.456-10_456-9del\",\n \"transcripts_count\": 16,\n \"exon_number\": 6,\n \"transcript_exon_count\": 6,\n \"closest_exon\": 5,\n \"closest_distance_to_exon\": 9\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0024327908,\n \"max_gnomad_frequency\": 0.008064515888690948\n },\n 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false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": 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\"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n 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false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n 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\"score\": 0.0303\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr11-48387900-G-A\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr22\",\n \"start_position\": 24129357,\n \"end_position\": 24129357,\n \"ref\": \"A\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 40,\n \"depth_ref\": 22,\n \"depth_alt\": 18,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.45,\n \"quality\": 510.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"518:0:558\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SMARCB1\",\n \"region\": \"EXONIC\",\n \"effect\": \"START_LOSS\",\n \"transcript\": \"ENST00000344921\",\n \"hgvc_p\": \"p.Met1?\",\n \"hgvc_c\": \"c.1A>G\",\n \"transcripts_count\": 13,\n \"exon_number\": 1,\n \"transcript_exon_count\": 9,\n \"closest_distance_to_exon\": 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\"exon_number\": 9,\n \"transcript_exon_count\": 35,\n \"closest_exon\": 9,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ATRX\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_000489.6\",\n \"hgvc_p\": \"p.Arg907Gln\",\n \"hgvc_c\": \"c.2720G>A\",\n \"transcripts_count\": 2,\n \"exon_number\": 9,\n \"transcript_exon_count\": 35,\n \"closest_exon\": 9,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 4.2678963E-4,\n \"max_gnomad_frequency\": 0.0013111658627167344\n },\n \"predictions\": {\n \"dbsnp\": \"rs143413618\",\n \"aggregated_predictions\": 0.38742236024844723,\n \"mt\": 0.0,\n \"revel\": 0.278,\n \"fathmm\": -2.93,\n \"metalr\": 0.3778,\n \"genocanyon\": 0.999999999996214,\n \"gerp\": -11.6,\n \"sift\": 0.442,\n \"polyphen2\": 0.001,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"LIKELY_BENIGN\",\n \"count\": 3\n },\n {\n \"level\": \"BENIGN\",\n \"count\": 2\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": 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},\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.5048738397903818\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr9-127262527-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 235301496,\n \"end_position\": 235301498,\n \"ref\": \"CAA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 60,\n \"depth_ref\": 4,\n \"depth_alt\": 15,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.25,\n \"quality\": 1272.02,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1289:899:972\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RBM34\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000408888\",\n \"hgvc_c\": \"c.702-9_702-8delTT\",\n \"transcripts_count\": 6,\n \"exon_number\": 6,\n \"transcript_exon_count\": 10,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 7\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RBM34\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_015014.4\",\n \"hgvc_c\": \"c.702-9_702-8del\",\n \"transcripts_count\": 6,\n \"exon_number\": 7,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 8\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0041461866,\n \"max_gnomad_frequency\": 0.003661226248368621\n },\n \"predictions\": {\n \"dbsnp\": \"rs367780945\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.022766110163160557\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-235301496-CAA-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr12\",\n \"start_position\": 50589674,\n \"end_position\": 50589676,\n \"ref\": \"CAA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 30,\n \"depth_ref\": 18,\n \"depth_alt\": 12,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.4,\n \"quality\": 197.59,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"205:0:424\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"LIMA1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000394943\",\n \"hgvc_c\": \"c.973-6_973-5delTT\",\n \"transcripts_count\": 12,\n \"exon_number\": 7,\n \"transcript_exon_count\": 10,\n \"closest_exon\": 8,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"LIMA1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_016357.5\",\n \"hgvc_c\": 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},\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ANKLE1\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000598347\",\n \"hgvc_p\": \"p.Val585fs\",\n \"hgvc_c\": \"c.1753delG\",\n \"transcripts_count\": 12,\n \"exon_number\": 8,\n \"transcript_exon_count\": 8,\n \"closest_exon\": 8,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ANKLE1\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_001278444.2\",\n \"hgvc_p\": \"p.Val585CysfsTer24\",\n \"hgvc_c\": \"c.1753del\",\n \"transcripts_count\": 5,\n \"exon_number\": 8,\n \"transcript_exon_count\": 8,\n \"closest_exon\": 8,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.5084135E-4,\n \"max_gnomad_frequency\": 0.0014367816038429737\n },\n \"predictions\": {\n \"dbsnp\": \"rs60338123\",\n \"splice_ai\": 0.01\n },\n 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\"score\": 0.4543864558113436\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-17397482-TG-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr15\",\n \"start_position\": 27126057,\n \"end_position\": 27126057,\n \"ref\": \"A\",\n \"alt\": \"AGGATCTTGGATG\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 90,\n \"depth_ref\": 66,\n \"depth_alt\": 21,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.23333333333333334,\n \"quality\": 208.0,\n \"zygosity\": \"HET\",\n \"gq\": 160.0,\n \"pl\": \"null\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"GABRA5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000335625\",\n \"hgvc_p\": \"p.Ile52_Gly55dup\",\n \"hgvc_c\": \"c.154_165dupATCTTGGATGGG\",\n \"transcripts_count\": 11,\n \"exon_number\": 4,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"GABRA5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_000810.4\",\n \"hgvc_p\": \"p.Ile52_Gly55dup\",\n \"hgvc_c\": \"c.154_165dup\",\n \"transcripts_count\": 2,\n \"exon_number\": 4,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {},\n \"predictions\": {},\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n 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false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n 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\"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000317721\",\n \"hgvc_p\": \"p.Ser1118Phe\",\n \"hgvc_c\": \"c.3353C>T\",\n \"transcripts_count\": 5,\n \"exon_number\": 12,\n \"transcript_exon_count\": 18,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"NCKAP5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_207363.3\",\n \"hgvc_p\": \"p.Ser1118Phe\",\n \"hgvc_c\": \"c.3353C>T\",\n \"transcripts_count\": 2,\n \"exon_number\": 14,\n \"transcript_exon_count\": 20,\n \"closest_exon\": 14,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs868627372\",\n \"aggregated_predictions\": 0.03520000000000001,\n \"mt\": 0.0,\n \"revel\": 0.027,\n \"fathmm\": 2.85,\n \"metalr\": 0.0128,\n \"genocanyon\": 1.49737499166993E-4,\n \"gerp\": 1.36,\n \"ma\": 1.245,\n \"sift\": 0.158,\n \"fitcons\": 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},\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": 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\"CT\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 54,\n \"depth_ref\": 1,\n \"depth_alt\": 51,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.9444444444444444,\n \"quality\": 1443.38,\n \"zygosity\": \"HEMI_ALT\",\n \"gq\": 160.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"XLR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"OGT\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000373719\",\n \"hgvc_c\": \"c.1167-6delT\",\n \"transcripts_count\": 7,\n \"exon_number\": 9,\n \"transcript_exon_count\": 21,\n \"closest_exon\": 10,\n \"closest_distance_to_exon\": 6\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"OGT\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_181672.3\",\n \"hgvc_c\": 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\"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.04544545641659654\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr20-44676727-T-A\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr17\",\n \"start_position\": 80885864,\n \"end_position\": 80885864,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 103,\n \"depth_ref\": 54,\n \"depth_alt\": 49,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.47572815533980584,\n \"quality\": 1589.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1597:0:1796\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TBCD\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000539345\",\n \"hgvc_p\": \"p.Thr898Ile\",\n \"hgvc_c\": \"c.2693C>T\",\n \"transcripts_count\": 15,\n \"exon_number\": 30,\n \"transcript_exon_count\": 40,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TBCD\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_005993.5\",\n \"hgvc_p\": \"p.Thr898Ile\",\n \"hgvc_c\": \"c.2693C>T\",\n \"transcripts_count\": 1,\n \"exon_number\": 30,\n \"transcript_exon_count\": 39,\n \"closest_exon\": 30,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.2548083E-5,\n \"max_gnomad_frequency\": 1.0264832963002846E-4\n },\n \"predictions\": {\n \"dbsnp\": \"rs375374940\",\n \"aggregated_predictions\": 0.05946666666666667,\n \"mt\": 2.2999999999995246E-5,\n \"revel\": 0.053,\n \"ada\": 0.00115199021685201,\n \"fathmm\": -0.18,\n \"metalr\": 0.078,\n \"genocanyon\": 0.00200940028121265,\n \"gerp\": 2.96,\n \"ma\": -0.835,\n \"sift\": 0.512,\n \"polyphen2\": 0.001,\n \"fitcons\": 0.706548,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n 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\"start_position\": 623458,\n \"end_position\": 623458,\n \"ref\": \"T\",\n \"alt\": \"C\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 134,\n \"depth_ref\": 68,\n \"depth_alt\": 66,\n \"mapping_quality\": 59.97,\n \"vaf\": 0.4925373134328358,\n \"quality\": 2020.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"2028:0:2120\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"POLRMT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000588649\",\n \"hgvc_p\": \"p.His429Arg\",\n \"hgvc_c\": \"c.1286A>G\",\n \"transcripts_count\": 8,\n \"exon_number\": 6,\n \"transcript_exon_count\": 21,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"POLRMT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_005035.4\",\n \"hgvc_p\": \"p.His429Arg\",\n \"hgvc_c\": \"c.1286A>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 6,\n \"transcript_exon_count\": 21,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 4.6905075E-4,\n \"max_gnomad_frequency\": 0.010102972388267517\n },\n \"predictions\": {\n \"dbsnp\": \"rs147681201\",\n \"aggregated_predictions\": 0.02773333333333334,\n \"mt\": 0.0,\n \"revel\": 0.019,\n \"metalr\": 0.0581,\n \"genocanyon\": 0.999967733410569,\n \"gerp\": 3.34,\n \"ma\": 0.805,\n \"polyphen2\": 0.001,\n \"fitcons\": 0.646311,\n \"splice_ai\": 0.03\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n 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\"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 88,\n \"depth_ref\": 44,\n \"depth_alt\": 44,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5,\n \"quality\": 1297.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1305:0:1223\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"NEBL\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"ENST00000377122\",\n \"hgvc_p\": \"p.Glu736*\",\n \"hgvc_c\": \"c.2206G>T\",\n \"transcripts_count\": 8,\n \"exon_number\": 22,\n \"transcript_exon_count\": 28,\n \"closest_exon\": 22,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"NEBL\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"NM_006393.3\",\n \"hgvc_p\": \"p.Glu736Ter\",\n \"hgvc_c\": \"c.2206G>T\",\n \"transcripts_count\": 10,\n 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},\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n 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3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n 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\"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.15146215193711454\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr17-65822266-CGAG-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr14\",\n \"start_position\": 102894559,\n \"end_position\": 102894559,\n \"ref\": \"G\",\n \"alt\": \"GT\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 19,\n \"depth_ref\": 12,\n \"depth_alt\": 7,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.3684210526315789,\n \"quality\": 56.6,\n \"zygosity\": \"HET\",\n \"gq\": 64.0,\n \"pl\": \"64:0:195\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TECPR2\",\n \"region\": \"INTRONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000359520\",\n \"hgvc_c\": \"c.952-28_952-27insT\",\n \"transcripts_count\": 3,\n \"exon_number\": 6,\n \"transcript_exon_count\": 19,\n \"closest_distance_to_exon\": 28\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TECPR2\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_014844.5\",\n \"hgvc_c\": \"c.952-6dup\",\n \"transcripts_count\": 2,\n \"exon_number\": 7,\n \"transcript_exon_count\": 20,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 6\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs565236204\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n 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false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.09835181807023174\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr14-102894559-G-GT\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr2\",\n \"start_position\": 203500040,\n \"end_position\": 203500043,\n \"ref\": \"AAGC\",\n \"alt\": \"A\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 25,\n \"depth_ref\": 22,\n \"depth_alt\": 3,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.12,\n \"quality\": 52.6,\n \"zygosity\": \"HET\",\n \"gq\": 60.0,\n \"pl\": \"60:0:832\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"FAM117B\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000392238\",\n \"hgvc_p\": \"p.Gln50del\",\n \"hgvc_c\": \"c.147_149delGCA\",\n \"transcripts_count\": 3,\n \"exon_number\": 1,\n \"transcript_exon_count\": 8,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"FAM117B\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_173511.4\",\n \"hgvc_p\": \"p.Gln50del\",\n \"hgvc_c\": \"c.147_149del\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 8,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0012601537,\n \"max_gnomad_frequency\": 0.002155980560928583\n },\n \"predictions\": {\n \"dbsnp\": \"rs567562707\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n 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\"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SMG1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000389467\",\n \"hgvc_p\": \"p.Gly18del\",\n \"hgvc_c\": \"c.52_54delGGC\",\n \"transcripts_count\": 7,\n \"exon_number\": 1,\n \"transcript_exon_count\": 63,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SMG1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_015092.5\",\n \"hgvc_p\": \"p.Gly18del\",\n \"hgvc_c\": \"c.52_54del\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 63,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0032929261,\n \"max_gnomad_frequency\": 0.005316050257533789\n },\n \"predictions\": {\n \"dbsnp\": \"rs550064983\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n 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\"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.015366953133507407\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr2-16080800-G-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 1253863,\n \"end_position\": 1253864,\n \"ref\": \"CA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n 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\"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.015366953133507407\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr11-1253863-CA-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 61977858,\n \"end_position\": 61977862,\n \"ref\": \"CTTTT\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 22,\n \"depth_ref\": 5,\n \"depth_alt\": 5,\n \"mapping_quality\": 59.78,\n \"vaf\": 0.22727272727272727,\n \"quality\": 202.02,\n \"zygosity\": \"HET\",\n \"gq\": 61.0,\n \"pl\": \"219:86:448\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SCGB2A1\",\n 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\"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": 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\"gene\": \"ELL\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000262809\",\n \"hgvc_c\": \"c.136-7_136-5delTTT\",\n \"transcripts_count\": 4,\n \"exon_number\": 1,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 2,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ELL\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_006532.4\",\n \"hgvc_c\": \"c.136-7_136-5del\",\n \"transcripts_count\": 1,\n \"exon_number\": 2,\n \"transcript_exon_count\": 12,\n \"closest_exon\": 2,\n \"closest_distance_to_exon\": 5\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs748950436\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n 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{\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.01517740677544037\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-18583696-TAAA-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr14\",\n \"start_position\": 92537354,\n \"end_position\": 92537354,\n \"ref\": \"C\",\n \"alt\": \"CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 6,\n \"depth_ref\": 0,\n \"depth_alt\": 4,\n \"mapping_quality\": 58.35,\n \"vaf\": 0.6666666666666666,\n \"quality\": 1647.02,\n \"zygosity\": \"HET\",\n \"gq\": 57.0,\n \"pl\": \"1664:175:57\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ATXN3\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000545170\",\n \"hgvc_p\": \"p.Gln314_Gly315insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln\",\n \"hgvc_c\": \"c.942_943insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG\",\n \"transcripts_count\": 39,\n \"exon_number\": 10,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 10,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ATXN3\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_004993.6\",\n \"hgvc_p\": \"p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln\",\n \"hgvc_c\": \"c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG\",\n \"transcripts_count\": 31,\n \"exon_number\": 10,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 10,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs193922928\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n 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\"depth_alt\": 4,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.2857142857142857,\n \"quality\": 122.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"130:0:408\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"GJC2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000366714\",\n \"hgvc_c\": \"c.-19-2A>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 2,\n \"transcript_exon_count\": 1,\n \"closest_distance_to_exon\": 2\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"GJC2\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_020435.4\",\n \"hgvc_c\": \"c.-19-2A>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 2,\n \"transcript_exon_count\": 2,\n \"closest_exon\": 2,\n \"closest_distance_to_exon\": 21\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 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\"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.2954038997214485\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-228345439-A-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr4\",\n \"start_position\": 3076672,\n \"end_position\": 3076672,\n \"ref\": \"A\",\n \"alt\": \"ACCGCCG\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 11,\n \"depth_ref\": 0,\n \"depth_alt\": 9,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.8181818181818182,\n \"quality\": 228.64,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 74.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"HTT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000355072\",\n \"hgvc_p\": \"p.Pro47_Pro48dup\",\n \"hgvc_c\": \"c.138_143dupGCCGCC\",\n \"transcripts_count\": 2,\n \"exon_number\": 1,\n \"transcript_exon_count\": 67,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"HTT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_002111.8\",\n \"hgvc_p\": \"p.Pro47_Pro48dup\",\n \"hgvc_c\": \"c.138_143dupGCCGCC\",\n \"transcripts_count\": 2,\n \"exon_number\": 1,\n \"transcript_exon_count\": 67,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.032571778,\n \"max_gnomad_frequency\": 0.06594279408454895\n },\n \"predictions\": {\n \"dbsnp\": \"rs772429544\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": true,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.040900910774936884\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr4-3076672-A-ACCGCCG\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 67145440,\n \"end_position\": 67145440,\n \"ref\": \"G\",\n \"alt\": \"A\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 103,\n \"depth_ref\": 47,\n \"depth_alt\": 56,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5436893203883495,\n \"quality\": 1808.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1816:0:1347\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SGIP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000237247\",\n \"hgvc_c\": \"c.826+5G>A\",\n \"transcripts_count\": 10,\n \"exon_number\": 15,\n \"transcript_exon_count\": 26,\n \"closest_distance_to_exon\": 5\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SGIP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_032291.4\",\n \"hgvc_c\": \"c.814+5G>A\",\n \"transcripts_count\": 27,\n \"exon_number\": 14,\n \"transcript_exon_count\": 25,\n \"closest_exon\": 14,\n \"closest_distance_to_exon\": 5\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0015761701,\n \"max_gnomad_frequency\": 0.0030532744713127613\n },\n \"predictions\": {\n \"dbsnp\": \"rs201997789\",\n \"aggregated_predictions\": 0.7073555507816033,\n \"ada\": 0.72206665234481,\n \"splice_ai\": 0.03\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.012323153758624056\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-67145440-G-A\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr7\",\n \"start_position\": 151927025,\n \"end_position\": 151927025,\n \"ref\": \"A\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 279,\n \"depth_ref\": 200,\n \"depth_alt\": 79,\n \"mapping_quality\": 36.9,\n \"vaf\": 0.2831541218637993,\n \"quality\": 1476.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1484:0:6479\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"KMT2C\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000355193\",\n \"hgvc_p\": \"p.Tyr987His\",\n \"hgvc_c\": \"c.2959T>C\",\n \"transcripts_count\": 5,\n \"exon_number\": 18,\n \"transcript_exon_count\": 60,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"KMT2C\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_170606.3\",\n \"hgvc_p\": \"p.Tyr987His\",\n \"hgvc_c\": \"c.2959T>C\",\n \"transcripts_count\": 1,\n \"exon_number\": 18,\n \"transcript_exon_count\": 59,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs77735469\",\n \"aggregated_predictions\": 0.8480337078651686,\n \"mt\": 0.971252,\n \"revel\": 0.815,\n \"fathmm\": -2.28,\n \"metalr\": 0.7538,\n \"genocanyon\": 0.999787248307013,\n \"gerp\": 4.67,\n \"ma\": 2.22,\n \"sift\": 0.001,\n \"polyphen2\": 1.0,\n \"fitcons\": 0.6512,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.2954038997214485\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr7-151927025-A-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr6\",\n \"start_position\": 33419613,\n \"end_position\": 33419615,\n \"ref\": \"CAG\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 51,\n \"depth_ref\": 44,\n \"depth_alt\": 7,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.13725490196078433,\n \"quality\": 69.6,\n \"zygosity\": \"HET\",\n \"gq\": 77.0,\n \"pl\": \"77:0:1794\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SYNGAP1\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000418600\",\n \"hgvc_p\": \"p.Ala1322fs\",\n \"hgvc_c\": \"c.3963_3964delAG\",\n \"transcripts_count\": 8,\n \"exon_number\": 19,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SYNGAP1\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_006772.3\",\n \"hgvc_p\": \"p.Ala1322ProfsTer40\",\n \"hgvc_c\": \"c.3963_3964del\",\n \"transcripts_count\": 3,\n \"exon_number\": 19,\n \"transcript_exon_count\": 19,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs771389000\",\n \"splice_ai\": 0.01\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.2954038997214485\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr6-33419613-CAG-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr4\",\n \"start_position\": 1087329,\n \"end_position\": 1087329,\n \"ref\": \"C\",\n \"alt\": \"CAT\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 17,\n \"depth_ref\": 0,\n \"depth_alt\": 17,\n \"vaf\": 1.0,\n \"quality\": 528.27,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 122.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000333673\",\n \"hgvc_p\": \"p.Ser241fs\",\n \"hgvc_c\": \"c.719_720insAT\",\n \"transcripts_count\": 9,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_001193318.3\",\n \"hgvc_p\": \"p.Ser241CysfsTer21\",\n \"hgvc_c\": \"c.719_720insAT\",\n \"transcripts_count\": 14,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs555719638\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.2460787856505135\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr4-1087329-C-CAT\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr4\",\n \"start_position\": 1087328,\n \"end_position\": 1087328,\n \"ref\": \"A\",\n \"alt\": \"AGC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 17,\n \"depth_ref\": 0,\n \"depth_alt\": 17,\n \"vaf\": 1.0,\n \"quality\": 528.27,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 122.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000333673\",\n \"hgvc_p\": \"p.Ser241fs\",\n \"hgvc_c\": \"c.720_721insGC\",\n \"transcripts_count\": 9,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_001193318.3\",\n \"hgvc_p\": \"p.Ser241AlafsTer21\",\n \"hgvc_c\": \"c.720_721insGC\",\n \"transcripts_count\": 14,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs539986150\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.2460787856505135\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr4-1087328-A-AGC\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr4\",\n \"start_position\": 1087327,\n \"end_position\": 1087327,\n \"ref\": \"G\",\n \"alt\": \"GCTGCCCAGGCTGGAGCC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 17,\n \"depth_ref\": 0,\n \"depth_alt\": 17,\n \"vaf\": 1.0,\n \"quality\": 528.27,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 122.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000333673\",\n \"hgvc_p\": \"p.Ser241fs\",\n \"hgvc_c\": \"c.721_722insGGCTCCAGCCTGGGCAG\",\n \"transcripts_count\": 9,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RNF212\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_001193318.3\",\n \"hgvc_p\": \"p.Ser241TrpfsTer26\",\n \"hgvc_c\": \"c.721_722insGGCTCCAGCCTGGGCAG\",\n \"transcripts_count\": 14,\n \"exon_number\": 4,\n \"transcript_exon_count\": 4,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs138488801\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.2460787856505135\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr4-1087327-G-GCTGCCCAGGCTGGAGCC\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr15\",\n \"start_position\": 23608827,\n \"end_position\": 23608827,\n \"ref\": \"G\",\n \"alt\": \"C\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 8,\n \"depth_ref\": 0,\n \"depth_alt\": 8,\n \"vaf\": 1.0,\n \"quality\": 168.48,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 68.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"AR\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"GOLGA8S\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000562295\",\n \"hgvc_p\": \"p.Asp420His\",\n \"hgvc_c\": \"c.1258G>C\",\n \"transcripts_count\": 4,\n \"exon_number\": 15,\n \"transcript_exon_count\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n 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\"G\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 49,\n \"depth_ref\": 0,\n \"depth_alt\": 10,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.20408163265306123,\n \"quality\": 896.72,\n \"zygosity\": \"HET\",\n \"gq\": 38.0,\n \"pl\": \"null\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"EIF2AK1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000199389\",\n \"hgvc_c\": \"c.792-5_792-4delTT\",\n \"transcripts_count\": 7,\n \"exon_number\": 8,\n \"transcript_exon_count\": 14,\n \"closest_distance_to_exon\": 3\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"EIF2AK1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_014413.4\",\n \"hgvc_c\": \"c.792-5_792-4del\",\n \"transcripts_count\": 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\"variant\": {\n \"chromosome\": \"chr12\",\n \"start_position\": 112036798,\n \"end_position\": 112036800,\n \"ref\": \"TGC\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 30,\n \"depth_ref\": 25,\n \"depth_alt\": 5,\n \"mapping_quality\": 59.3,\n \"vaf\": 0.16666666666666666,\n \"quality\": 107.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"115:0:1015\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ATXN2\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000377617\",\n \"hgvc_p\": \"p.Gln174fs\",\n \"hgvc_c\": \"c.519_520delGC\",\n \"transcripts_count\": 11,\n \"exon_number\": 1,\n \"transcript_exon_count\": 25,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ATXN2\",\n 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\"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": 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\"priority\": {\n \"score\": 0.1967036361404635\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-228345438-C-CCGGGGGGGGGGGGG\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr9\",\n \"start_position\": 20986265,\n \"end_position\": 20986265,\n \"ref\": \"A\",\n \"alt\": \"ATTTTTTTTTTTTTTTTTTTT\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 6,\n \"depth_ref\": 0,\n \"depth_alt\": 6,\n \"mapping_quality\": 60.0,\n \"vaf\": 1.0,\n \"quality\": 252.92,\n \"zygosity\": \"HOM_ALT\",\n \"gq\": 17.0,\n \"pl\": \"267:17:0\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"FOCAD\",\n \"region\": \"INTRONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000338382\",\n \"hgvc_c\": \"c.4729-22_4729-21insTTTTTTTTTTTTTTTTTTTT\",\n \"transcripts_count\": 4,\n \"exon_number\": 38,\n \"transcript_exon_count\": 42,\n \"closest_exon\": 39,\n \"closest_distance_to_exon\": 22\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"FOCAD\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001375567.1\",\n \"hgvc_c\": \"c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTT\",\n \"transcripts_count\": 4,\n \"exon_number\": 40,\n \"transcript_exon_count\": 44,\n \"closest_exon\": 40,\n \"closest_distance_to_exon\": 5\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs545976303\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": 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\"uniprot_id\": \"P78363\",\n \"variant_link\": \"https://www.uniprot.org/uniprot/P78363\"\n }\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 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},\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n 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\"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": true,\n 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\"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"AGO1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001317122.2\",\n \"hgvc_p\": \"p.His879Pro\",\n \"hgvc_c\": \"c.2636A>C\",\n \"transcripts_count\": 3,\n \"exon_number\": 19,\n \"transcript_exon_count\": 19,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs558595376\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n 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}\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 2.5895983E-4,\n \"max_gnomad_frequency\": 0.005859375\n },\n \"predictions\": {\n \"dbsnp\": \"rs373345277\",\n \"aggregated_predictions\": 0.3097049689440994,\n \"mt\": 0.999908,\n \"revel\": 0.187,\n \"fathmm\": 2.78,\n \"metalr\": 0.0686,\n \"genocanyon\": 0.999651556765541,\n \"gerp\": 5.79,\n \"ma\": 2.325,\n \"sift\": 0.129,\n \"polyphen2\": 0.856,\n \"fitcons\": 0.638212,\n \"splice_ai\": 0.14\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 2\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n 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\"depth_ref\": 109,\n \"depth_alt\": 102,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.4834123222748815,\n \"quality\": 3007.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"3015:0:3497\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"CLCN6\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000376496\",\n \"hgvc_p\": \"p.Thr330Ile\",\n \"hgvc_c\": \"c.989C>T\",\n \"transcripts_count\": 8,\n \"exon_number\": 12,\n \"transcript_exon_count\": 22,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"CLCN6\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001286.5\",\n \"hgvc_p\": \"p.Thr330Ile\",\n \"hgvc_c\": \"c.989C>T\",\n \"transcripts_count\": 3,\n \"exon_number\": 12,\n \"transcript_exon_count\": 23,\n \"closest_exon\": 12,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"aggregated_predictions\": 0.8460674157303372,\n \"mt\": 1.0,\n \"revel\": 0.808,\n \"fathmm\": -3.46,\n \"metalr\": 0.8583,\n \"genocanyon\": 0.999999999995417,\n \"gerp\": 5.8,\n \"ma\": 1.605,\n \"sift\": 0.023,\n \"fitcons\": 0.706548,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_LOW\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n 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false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.681939300264403\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr16-89350393-T-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr16\",\n \"start_position\": 89341214,\n \"end_position\": 89341214,\n \"ref\": \"G\",\n \"alt\": \"A\",\n 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0.03409696501322015\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-15291576-C-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr19\",\n \"start_position\": 13418672,\n \"end_position\": 13418672,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 86,\n \"depth_ref\": 40,\n \"depth_alt\": 46,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5348837209302325,\n \"quality\": 1266.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1274:0:1108\",\n \"family_zygosities\": {\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"CACNA1A\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000360228\",\n \"hgvc_c\": \"c.1914-4G>A\",\n \"transcripts_count\": 2,\n \"exon_number\": 14,\n \"transcript_exon_count\": 46,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"CACNA1A\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001127222.2\",\n \"hgvc_c\": \"c.1914-4G>A\",\n \"transcripts_count\": 5,\n \"exon_number\": 15,\n \"transcript_exon_count\": 47,\n \"closest_exon\": 15,\n \"closest_distance_to_exon\": 4\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0014783707,\n \"max_gnomad_frequency\": 0.03386222943663597\n },\n \"predictions\": {\n \"dbsnp\": \"rs191026552\",\n \"aggregated_predictions\": 0.010274721728642704,\n \"ada\": 2.94344709260031E-4,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"BENIGN\",\n \"count\": 5\n },\n {\n \"level\": \"LIKELY_BENIGN\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": true,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\",\n \"neurodevelopmental delay\"\n ],\n \"priority\": {\n \"score\": 0.03409696501322015\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-13418672-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr14\",\n \"start_position\": 69376076,\n \"end_position\": 69376076,\n \"ref\": \"G\",\n \"alt\": \"A\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 169,\n \"depth_ref\": 81,\n \"depth_alt\": 88,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5207100591715976,\n \"quality\": 2551.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"2559:0:2390\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ACTN1\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"ENST00000538545\",\n \"hgvc_p\": \"p.Arg185*\",\n \"hgvc_c\": \"c.553C>T\",\n \"transcripts_count\": 12,\n \"exon_number\": 6,\n \"transcript_exon_count\": 21,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ACTN1\",\n \"region\": \"EXONIC\",\n \"effect\": \"STOP_GAIN\",\n \"transcript\": \"NM_001130004.2\",\n \"hgvc_p\": \"p.Arg185Ter\",\n \"hgvc_c\": \"c.553C>T\",\n \"transcripts_count\": 3,\n \"exon_number\": 6,\n \"transcript_exon_count\": 22,\n \"closest_exon\": 6,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"dbsnp\": \"rs1268659963\",\n \"mt\": 1.0,\n \"genocanyon\": 0.999998731901731,\n \"gerp\": 4.25,\n \"fitcons\": 0.732398,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n 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\"dbsnp\": \"rs144706702\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"BENIGN\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": true,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n 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\"chr3\",\n \"start_position\": 183493743,\n \"end_position\": 183493749,\n \"ref\": \"CGGAGGA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 120,\n \"depth_ref\": 0,\n \"depth_alt\": 11,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.09166666666666666,\n \"quality\": 4847.02,\n \"zygosity\": \"HET\",\n \"gq\": 53.0,\n \"pl\": \"4864:4496:4873\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"YEATS2\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"ENST00000305135\",\n \"hgvc_p\": \"p.Gly812_Gly813del\",\n \"hgvc_c\": \"c.2433_2438delAGGAGG\",\n \"transcripts_count\": 2,\n \"exon_number\": 18,\n \"transcript_exon_count\": 31,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"YEATS2\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_FRAMESHIFT\",\n \"transcript\": \"NM_018023.5\",\n \"hgvc_p\": \"p.Gly813_Gly814del\",\n \"hgvc_c\": \"c.2433_2438del\",\n \"transcripts_count\": 4,\n \"exon_number\": 18,\n \"transcript_exon_count\": 31,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0024681138,\n \"max_gnomad_frequency\": 0.005992178805172443\n },\n \"predictions\": {\n \"dbsnp\": \"rs146705467\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n 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\"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n 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\"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007588703387720185\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr7-150721146-A-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr5\",\n \"start_position\": 137507104,\n \"end_position\": 137507107,\n \"ref\": \"TAAA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 55,\n \"depth_ref\": 2,\n \"depth_alt\": 8,\n \"vaf\": 0.14545454545454545,\n \"quality\": 927.9,\n \"zygosity\": \"HET\",\n \"gq\": 51.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"BRD8\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": 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7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n 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\"ref\": \"T\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 79,\n \"depth_ref\": 66,\n \"depth_alt\": 13,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.16455696202531644,\n \"quality\": 146.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"154:0:1545\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"PCDH10\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000264360\",\n \"hgvc_p\": \"p.Leu224Arg\",\n \"hgvc_c\": \"c.671T>G\",\n \"transcripts_count\": 4,\n \"exon_number\": 1,\n \"transcript_exon_count\": 5,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"PCDH10\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_032961.3\",\n \"hgvc_p\": \"p.Leu224Arg\",\n \"hgvc_c\": 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\"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n 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\"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n 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},\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007588703387720185\n },\n \"variant_franklin_link\": 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}\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.8844006E-5,\n \"max_gnomad_frequency\": 1.2607160897459835E-4\n },\n \"predictions\": {\n \"dbsnp\": \"rs71888937\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": 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\"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007588703387720185\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr17-29086494-C-CTT\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr19\",\n \"start_position\": 17638211,\n \"end_position\": 17638211,\n \"ref\": \"A\",\n \"alt\": \"C\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 75,\n \"depth_ref\": 63,\n \"depth_alt\": 12,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.16,\n \"quality\": 175.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"183:0:2610\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"NIBAN3\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": 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\"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007588703387720185\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr19-17638211-A-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr16\",\n \"start_position\": 71805159,\n \"end_position\": 71805159,\n \"ref\": \"T\",\n \"alt\": \"TA\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 40,\n \"depth_ref\": 0,\n \"depth_alt\": -1,\n \"mapping_quality\": 60.0,\n \"vaf\": -0.025,\n \"quality\": 853.56,\n \"zygosity\": \"HET\",\n \"gq\": 64.0,\n \"pl\": \"null\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"AP1G1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000433195\",\n \"hgvc_c\": \"c.538-5_538-4insT\",\n \"transcripts_count\": 15,\n \"exon_number\": 7,\n \"transcript_exon_count\": 25,\n \"closest_exon\": 8,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"AP1G1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001128.6\",\n \"hgvc_c\": \"c.469-5_469-4insT\",\n \"transcripts_count\": 2,\n \"exon_number\": 5,\n \"transcript_exon_count\": 23,\n \"closest_exon\": 5,\n \"closest_distance_to_exon\": 4\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs546053980\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.28761846309219113\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr16-71805159-T-TA\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr3\",\n \"start_position\": 49759369,\n \"end_position\": 49759369,\n \"ref\": \"T\",\n \"alt\": \"TGCCCCCCCCC\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 81,\n \"depth_ref\": 71,\n \"depth_alt\": 10,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.12345679012345678,\n \"quality\": 115.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"123:0:2744\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"GMPPB\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000308375\",\n \"hgvc_p\": \"p.Glu327fs\",\n \"hgvc_c\": \"c.979_980insGGGGGGGGGC\",\n \"transcripts_count\": 17,\n \"exon_number\": 8,\n \"transcript_exon_count\": 8,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"GMPPB\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_013334.4\",\n \"hgvc_p\": \"p.Glu327GlyfsTer14\",\n \"hgvc_c\": \"c.979_980insGGGGGGGGGC\",\n \"transcripts_count\": 8,\n \"exon_number\": 8,\n \"transcript_exon_count\": 8,\n \"closest_exon\": 8,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {},\n \"predictions\": {},\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"LIKELY_PATHOGENIC\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": true,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": 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\"https://franklin.genoox.com/clinical-db/variant/snp/chr3-49759369-T-TGCCCCCCCCC\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr22\",\n \"start_position\": 23653975,\n \"end_position\": 23653975,\n \"ref\": \"T\",\n \"alt\": \"TCCGG\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"LOW\",\n \"depth\": 209,\n \"depth_ref\": 181,\n \"depth_alt\": 28,\n \"mapping_quality\": 52.97,\n \"vaf\": 0.1339712918660287,\n \"quality\": 622.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"630:0:7517\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"BCR\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"ENST00000305877\",\n \"hgvc_p\": \"p.Val1094fs\",\n \"hgvc_c\": \"c.3275_3278dupCCGG\",\n \"transcripts_count\": 7,\n \"exon_number\": 19,\n \"transcript_exon_count\": 23,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"BCR\",\n \"region\": \"EXONIC\",\n \"effect\": \"FRAMESHIFT\",\n \"transcript\": \"NM_004327.4\",\n \"hgvc_p\": \"p.Val1094ArgfsTer17\",\n \"hgvc_c\": \"c.3275_3278dup\",\n \"transcripts_count\": 2,\n \"exon_number\": 19,\n \"transcript_exon_count\": 23,\n \"closest_exon\": 19,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs372013175\"\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 3\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": 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\"closest_exon\": 10,\n \"closest_distance_to_exon\": 4\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 3.0E-5\n },\n \"predictions\": {\n \"dbsnp\": \"rs70978505\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 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\"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": 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\"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000253811\",\n \"hgvc_c\": \"c.3152-1G>T\",\n \"transcripts_count\": 15,\n \"exon_number\": 24,\n \"transcript_exon_count\": 27,\n \"closest_distance_to_exon\": 1\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"DIAPH1\",\n \"region\": \"SPLICE_ACCEPTOR\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_005219.5\",\n \"hgvc_c\": \"c.3149-1G>T\",\n \"transcripts_count\": 3,\n \"exon_number\": 24,\n \"transcript_exon_count\": 28,\n \"closest_exon\": 24,\n \"closest_distance_to_exon\": 1\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.010814201,\n \"max_gnomad_frequency\": 0.010885341092944145\n },\n \"predictions\": {\n \"dbsnp\": \"rs80342520\",\n \"aggregated_predictions\": 0.7999955585603358,\n \"mt\": 1.0,\n \"ada\": 0.999986675681007,\n \"genocanyon\": 0.999999999999999,\n \"gerp\": 5.64,\n \"fitcons\": 0.322412,\n \"splice_ai\": 0.99\n },\n \"clinical_evidences\": 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\"variant\": {\n \"chromosome\": \"chr3\",\n \"start_position\": 170846676,\n \"end_position\": 170846680,\n \"ref\": \"CAAAA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 38,\n \"depth_ref\": 28,\n \"depth_alt\": 10,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.2631578947368421,\n \"quality\": 179.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"187:0:849\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TNIK\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000436636\",\n \"hgvc_c\": \"c.1609-13_1609-10delTTTT\",\n \"transcripts_count\": 10,\n \"exon_number\": 15,\n \"transcript_exon_count\": 32,\n \"closest_exon\": 16,\n \"closest_distance_to_exon\": 9\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TNIK\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_015028.4\",\n \"hgvc_c\": \"c.1609-13_1609-10del\",\n \"transcripts_count\": 8,\n \"exon_number\": 16,\n \"transcript_exon_count\": 33,\n \"closest_exon\": 16,\n \"closest_distance_to_exon\": 10\n }\n ],\n \"frequencies\": {},\n \"predictions\": {},\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"phenotypes\": [\n \"global developmental delay\"\n ],\n \"priority\": {\n \"score\": 0.030733906267014815\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr3-170846676-CAAAA-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr2\",\n \"start_position\": 37276993,\n \"end_position\": 37276998,\n \"ref\": \"TAAAAA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 17,\n \"depth_ref\": 12,\n \"depth_alt\": 5,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.29411764705882354,\n \"quality\": 109.59,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"117:0:355\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"HEATR5B\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000233099\",\n \"hgvc_c\": \"c.2506-12_2506-8delTTTTT\",\n \"transcripts_count\": 3,\n \"exon_number\": 17,\n \"transcript_exon_count\": 35,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 7\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"HEATR5B\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_019024.3\",\n \"hgvc_c\": \"c.2506-12_2506-8del\",\n \"transcripts_count\": 1,\n \"exon_number\": 18,\n \"transcript_exon_count\": 36,\n \"closest_exon\": 18,\n \"closest_distance_to_exon\": 8\n }\n ],\n \"frequencies\": {},\n \"predictions\": {},\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n 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\"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n 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\"https://franklin.genoox.com/clinical-db/variant/snp/chr2-37276993-TAAAAA-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr1\",\n \"start_position\": 234601456,\n \"end_position\": 234601459,\n \"ref\": \"TAAA\",\n \"alt\": \"T\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 54,\n \"depth_ref\": 43,\n \"depth_alt\": 11,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.2037037037037037,\n \"quality\": 167.6,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"175:0:1259\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TARBP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000040877\",\n \"hgvc_c\": \"c.1249-5_1249-3delTTT\",\n \"transcripts_count\": 1,\n \"exon_number\": 4,\n \"transcript_exon_count\": 29,\n \"closest_distance_to_exon\": 2\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TARBP1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_005646.4\",\n \"hgvc_c\": \"c.1249-5_1249-3del\",\n \"transcripts_count\": 1,\n \"exon_number\": 5,\n \"transcript_exon_count\": 30,\n \"closest_exon\": 5,\n \"closest_distance_to_exon\": 3\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.009954454,\n \"max_gnomad_frequency\": 0.013282387517392635\n },\n \"predictions\": {\n \"dbsnp\": \"rs531256921\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"POSSIBLY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007393892255174433\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr1-234601456-TAAA-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr10\",\n \"start_position\": 90362307,\n \"end_position\": 90362310,\n \"ref\": \"CTTT\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 14,\n \"depth_ref\": 0,\n \"depth_alt\": 3,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.21428571428571427,\n \"quality\": 324.02,\n \"zygosity\": \"HET\",\n \"gq\": 49.0,\n \"pl\": \"341:257:339\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"LIPJ\",\n \"region\": \"INTRONIC\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000371939\",\n \"hgvc_c\": \"c.724-25_724-23delTTT\",\n \"transcripts_count\": 2,\n \"exon_number\": 8,\n \"transcript_exon_count\": 10,\n \"closest_exon\": 9,\n \"closest_distance_to_exon\": 23\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"LIPJ\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001010939.2\",\n \"hgvc_c\": \"c.724-12_724-10del\",\n \"transcripts_count\": 1,\n \"exon_number\": 9,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 9,\n \"closest_distance_to_exon\": 12\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0018356005,\n 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\"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.007393892255174433\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr10-90362307-CTTT-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chrX\",\n \"start_position\": 11272836,\n \"end_position\": 11272840,\n \"ref\": \"CAAAA\",\n \"alt\": \"C\",\n \"variation_type\": \"INDEL\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 23,\n \"depth_ref\": 7,\n \"depth_alt\": 6,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.2608695652173913,\n \"quality\": 195.02,\n \"zygosity\": \"HET\",\n \"gq\": 55.0,\n \"pl\": \"212:66:443\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ARHGAP6\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000337414\",\n 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\"transcript_exon_count\": 11,\n \"closest_exon\": 11,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0013355785,\n \"max_gnomad_frequency\": 0.0022356794215738773\n },\n \"predictions\": {\n \"dbsnp\": \"rs142803140\",\n \"aggregated_predictions\": 0.4232919254658385,\n \"mt\": 1.0,\n \"revel\": 0.32,\n \"fathmm\": 1.81,\n \"metalr\": 0.0838,\n \"genocanyon\": 0.999999999968406,\n \"gerp\": 5.02,\n \"ma\": 2.2,\n \"sift\": 0.049,\n \"polyphen2\": 0.82,\n \"fitcons\": 0.67177,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n 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\"mapping_quality\": 59.93,\n \"vaf\": 0.22709163346613545,\n \"quality\": 1289.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1297:0:6580\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"RETSAT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000295802\",\n \"hgvc_p\": \"p.Ala586Thr\",\n \"hgvc_c\": \"c.1756G>A\",\n \"transcripts_count\": 8,\n \"exon_number\": 11,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 11,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"RETSAT\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_017750.4\",\n \"hgvc_p\": \"p.Ala586Thr\",\n \"hgvc_c\": \"c.1756G>A\",\n \"transcripts_count\": 1,\n \"exon_number\": 11,\n \"transcript_exon_count\": 11,\n \"closest_exon\": 11,\n \"closest_distance_to_exon\": 0\n }\n 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\"family_zygosities\": {\n \"mother_zygosity\": \"HOM_ALT\",\n \"father_zygosity\": \"HOM_ALT\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ZNF717\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000422325\",\n \"hgvc_p\": \"p.Ala93Thr\",\n \"hgvc_c\": \"c.277G>A\",\n \"transcripts_count\": 8,\n \"exon_number\": 4,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ZNF717\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001290208.3\",\n \"hgvc_p\": \"p.Ala93Thr\",\n \"hgvc_c\": \"c.277G>A\",\n \"transcripts_count\": 8,\n \"exon_number\": 4,\n \"transcript_exon_count\": 5,\n \"closest_exon\": 4,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.004496139,\n \"max_gnomad_frequency\": 0.010095011442899704\n },\n 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\"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n 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\"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"ZFYVE1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000553891\",\n \"hgvc_c\": \"c.484-6_484-5delTT\",\n \"transcripts_count\": 3,\n \"exon_number\": 2,\n \"transcript_exon_count\": 12,\n \"closest_exon\": 3,\n \"closest_distance_to_exon\": 4\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"ZFYVE1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_021260.4\",\n \"hgvc_c\": \"c.484-6_484-5del\",\n \"transcripts_count\": 2,\n \"exon_number\": 3,\n \"transcript_exon_count\": 12,\n \"closest_exon\": 3,\n \"closest_distance_to_exon\": 5\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0076477826,\n \"max_gnomad_frequency\": 0.017622128129005432\n },\n \"predictions\": {\n \"dbsnp\": \"rs3061072\",\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.005366802899784404\n },\n 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\"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"OGFR\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_007346.4\",\n \"hgvc_p\": \"p.Arg545Ser\",\n \"hgvc_c\": \"c.1633C>A\",\n \"transcripts_count\": 2,\n \"exon_number\": 7,\n \"transcript_exon_count\": 7,\n \"closest_exon\": 7,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.003784119,\n \"max_gnomad_frequency\": 0.011924230493605137\n },\n \"predictions\": {\n \"dbsnp\": \"rs6122313\",\n \"aggregated_predictions\": 0.028666666666666674,\n \"mt\": 0.0,\n \"revel\": 0.02,\n \"fathmm\": 0.55,\n \"metalr\": 1.0E-4,\n \"genocanyon\": 0.995722869310868,\n \"gerp\": -0.396,\n \"ma\": 0.205,\n \"sift\": 0.319,\n \"polyphen2\": 0.001,\n \"fitcons\": 0.67177,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {\n \"uniprot_id\": \"Q9NZT2\",\n \"variant_link\": \"https://www.uniprot.org/uniprot/Q9NZT2\"\n }\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": 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\"https://franklin.genoox.com/clinical-db/variant/snp/chr20-61444600-C-A\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 48387890,\n \"end_position\": 48387890,\n \"ref\": \"T\",\n \"alt\": \"C\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 138,\n \"depth_ref\": 110,\n \"depth_alt\": 28,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.2028985507246377,\n \"quality\": 822.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"830:0:4509\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"OR4C5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000319813\",\n \"hgvc_p\": \"p.Glu43Gly\",\n \"hgvc_c\": \"c.128A>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 1,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"OR4C5\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001348223.1\",\n \"hgvc_p\": \"p.Glu43Gly\",\n \"hgvc_c\": \"c.128A>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 1,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0026325723,\n \"max_gnomad_frequency\": 0.005816368851810694\n },\n \"predictions\": {\n \"dbsnp\": \"rs74623688\",\n \"aggregated_predictions\": 0.094,\n \"mt\": 0.0,\n \"revel\": 0.09,\n \"fathmm\": 7.4,\n \"metalr\": 0.0012,\n \"genocanyon\": 0.0737539829474832,\n \"gerp\": 3.89,\n \"sift\": 0.077,\n \"polyphen2\": 0.004,\n \"fitcons\": 0.487112,\n \"splice_ai\": 0.0\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": 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\"SupportingPathogenic\"\n },\n {\n \"name\": \"BA1\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BS1\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BS2\",\n \"weight\": -6,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"BP1\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": true,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.005366802899784404\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr11-48387890-T-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr17\",\n \"start_position\": 39254149,\n \"end_position\": 39254149,\n \"ref\": \"G\",\n \"alt\": \"C\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 18,\n \"depth_ref\": 11,\n \"depth_alt\": 7,\n \"mapping_quality\": 52.32,\n \"vaf\": 0.3888888888888889,\n \"quality\": 218.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"226:0:441\",\n \"family_inheritance_model\": \"DE NOVO\",\n \"family_zygosities\": {}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"KRTAP4-8\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000333822\",\n \"hgvc_p\": \"p.Thr63Ser\",\n \"hgvc_c\": \"c.188C>G\",\n \"transcripts_count\": 2,\n \"exon_number\": 1,\n \"transcript_exon_count\": 1,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"KRTAP4-8\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_031960.3\",\n \"hgvc_p\": \"p.Thr63Ser\",\n \"hgvc_c\": \"c.188C>G\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 1,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.0022238411,\n \"max_gnomad_frequency\": 0.006861294154077768\n },\n \"predictions\": {\n \"dbsnp\": \"rs201246375\",\n \"aggregated_predictions\": 0.01933333333333334,\n \"mt\": 0.0,\n \"revel\": 0.01,\n \"fathmm\": 5.16,\n \"metalr\": 0.0024,\n \"genocanyon\": 9.38408768266848E-5,\n \"gerp\": -1.04,\n \"ma\": -0.02,\n \"sift\": 0.475,\n \"fitcons\": 0.487112,\n \"splice_ai\": 0.01\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"LIKELY_BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n 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\"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.005366802899784404\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chrX-7811824-G-C\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 1213135,\n \"end_position\": 1213135,\n \"ref\": \"C\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 358,\n \"depth_ref\": 224,\n \"depth_alt\": 129,\n \"vaf\": 0.36033519553072624,\n \"quality\": 2223.66,\n \"zygosity\": \"HET\",\n \"gq\": 160.0,\n \"pl\": \"null\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"MUC5AC\",\n \"region\": \"OTHER_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000358378\",\n \"hgvc_c\": \"n.376C>T\",\n \"transcripts_count\": 1,\n \"exon_number\": 1,\n \"transcript_exon_count\": 19,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"MUC5AC\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001304359.2\",\n \"hgvc_p\": \"p.Pro751Ser\",\n \"hgvc_c\": \"c.2251C>T\",\n \"transcripts_count\": 1,\n \"exon_number\": 18,\n \"transcript_exon_count\": 38,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.02450319\n },\n \"predictions\": {\n \"dbsnp\": \"rs75319504\",\n \"genocanyon\": 0.0144218515863174,\n \"gerp\": -0.412,\n \"fitcons\": 0.056701\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": []\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n 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\"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"weight\": -2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM6\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS2\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"PS3\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BS3\",\n \"weight\": -10,\n \"is_met\": false,\n \"influence\": \"StrongBenign\"\n },\n {\n \"name\": \"PM3\",\n \"weight\": 5,\n \"is_met\": false\n },\n {\n \"name\": \"BP2\",\n \"weight\": -5,\n \"is_met\": false\n },\n {\n \"name\": \"PP1\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BS4\",\n \"weight\": -10,\n \"is_met\": false\n },\n {\n \"name\": \"PP4\",\n \"weight\": 2,\n \"is_met\": false\n },\n {\n \"name\": \"BP5\",\n \"weight\": -2,\n \"is_met\": false\n },\n {\n \"name\": \"PS4\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n }\n ]\n },\n \"included_in_analysis_workbench\": false,\n \"priority\": {\n \"score\": 0.005366802899784404\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr11-1213135-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 1213118,\n \"end_position\": 1213118,\n \"ref\": \"C\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 382,\n \"depth_ref\": 283,\n \"depth_alt\": 99,\n \"vaf\": 0.2591623036649215,\n \"quality\": 822.16,\n \"zygosity\": \"HET\",\n \"gq\": 136.0,\n \"pl\": \"null\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": 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\"https://franklin.genoox.com/clinical-db/variant/snp/chr11-1213118-C-G\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr11\",\n \"start_position\": 1017988,\n \"end_position\": 1017988,\n \"ref\": \"G\",\n \"alt\": \"T\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"MEDIUM\",\n \"depth\": 104,\n \"depth_ref\": 81,\n \"depth_alt\": 23,\n \"mapping_quality\": 51.32,\n \"vaf\": 0.22115384615384615,\n \"quality\": 507.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"515:0:3019\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\",\n \"father_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"MUC6\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000421673\",\n \"hgvc_p\": \"p.Pro1605Thr\",\n \"hgvc_c\": \"c.4813C>A\",\n \"transcripts_count\": 3,\n \"exon_number\": 31,\n \"transcript_exon_count\": 33,\n 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\"acmg_classification\": \"UNCERTAIN_SIGNIFICANCE\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": true,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PP5\",\n \"weight\": 2,\n \"is_met\": 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{\n \"chromosome\": \"chr5\",\n \"start_position\": 149753894,\n \"end_position\": 149753894,\n \"ref\": \"G\",\n \"alt\": \"A\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 103,\n \"depth_ref\": 53,\n \"depth_alt\": 50,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.4854368932038835,\n \"quality\": 1579.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1587:0:1722\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"TCOF1\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000451292\",\n \"hgvc_p\": \"p.Ser343Asn\",\n \"hgvc_c\": \"c.1028G>A\",\n \"transcripts_count\": 14,\n \"exon_number\": 8,\n \"transcript_exon_count\": 28,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"TCOF1\",\n \"region\": \"EXONIC\",\n \"effect\": 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}\n ]\n },\n \"uniprot\": {\n \"uniprot_id\": \"P09619\",\n \"variant_link\": \"https://www.uniprot.org/uniprot/P09619\"\n }\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n 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\"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 114,\n \"depth_ref\": 65,\n \"depth_alt\": 49,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.4298245614035088,\n \"quality\": 1568.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1576:0:2098\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SETD1B\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000604567\",\n \"hgvc_c\": \"c.5589+10G>A\",\n \"transcripts_count\": 3,\n \"exon_number\": 15,\n \"transcript_exon_count\": 16,\n \"closest_distance_to_exon\": 10\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SETD1B\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"NM_001353345.2\",\n \"hgvc_c\": \"c.5589+10G>A\",\n \"transcripts_count\": 1,\n \"exon_number\": 15,\n 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}\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"SETD1B\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"ENST00000604567\",\n \"hgvc_p\": \"p.Leu1355Pro\",\n \"hgvc_c\": \"c.4064T>C\",\n \"transcripts_count\": 3,\n \"exon_number\": 12,\n \"transcript_exon_count\": 17,\n \"closest_distance_to_exon\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"SETD1B\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_001353345.2\",\n \"hgvc_p\": \"p.Leu1355Pro\",\n \"hgvc_c\": \"c.4064T>C\",\n \"transcripts_count\": 1,\n \"exon_number\": 12,\n \"transcript_exon_count\": 17,\n \"closest_exon\": 12,\n \"closest_distance_to_exon\": 0\n }\n ],\n \"frequencies\": {\n \"aggregated_frequency\": 0.020348558,\n \"max_gnomad_frequency\": 0.07172205299139023\n },\n \"predictions\": {\n \"dbsnp\": \"rs58801491\",\n \"aggregated_predictions\": 0.053866666666666674,\n \"mt\": 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{\n \"level\": \"LIKELY_BENIGN\",\n \"count\": 3\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n 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0.03409696501322015\n },\n \"variant_franklin_link\": \"https://franklin.genoox.com/clinical-db/variant/snp/chr4-114214588-C-T\"\n },\n {\n \"variant\": {\n \"chromosome\": \"chr13\",\n \"start_position\": 110844637,\n \"end_position\": 110844637,\n \"ref\": \"G\",\n \"alt\": \"A\",\n \"variation_type\": \"SNP\"\n },\n \"sample_data\": {\n \"confidence_level\": \"HIGH\",\n \"depth\": 98,\n \"depth_ref\": 46,\n \"depth_alt\": 52,\n \"mapping_quality\": 60.0,\n \"vaf\": 0.5306122448979592,\n \"quality\": 1554.64,\n \"zygosity\": \"HET\",\n \"gq\": 99.0,\n \"pl\": \"1562:0:1430\",\n \"family_zygosities\": {\n \"mother_zygosity\": \"HET\"\n }\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"COL4A1\",\n \"region\": \"SPLICE_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"ENST00000375820\",\n \"hgvc_c\": \"c.1466-6C>T\",\n \"transcripts_count\": 2,\n \"exon_number\": 23,\n \"transcript_exon_count\": 51,\n \"closest_exon\": 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},\n {\n \"level\": \"BENIGN\",\n \"count\": 6\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"BENIGN\",\n \"acmg_rules\": [\n {\n \"name\": \"PS1\",\n \"weight\": 7,\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"PP3\",\n \"weight\": 2,\n \"is_met\": false,\n \"influence\": \"SupportingPathogenic\"\n },\n {\n \"name\": \"PM2\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PVS1\",\n \"weight\": 10,\n \"is_met\": false,\n \"influence\": \"VeryStrongPathogenic\"\n },\n {\n \"name\": \"PM4\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM5\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PM1\",\n \"weight\": 3,\n \"is_met\": false,\n \"influence\": \"ModeratePathogenic\"\n },\n {\n \"name\": \"PP2\",\n \"weight\": 2,\n \"is_met\": false,\n 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Retrieves download links for VCF files associated with a specific case ID.
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Retrieves download links for FASTQ files associated with a specific case ID.

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Retrieves download links for BAM and BAI files associated with a specific case ID.

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An API endpoint that returns a JSON with variants marked for orthogonal_confirmation, along with case details.

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Required Parameter:

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    \n
  • analysis_id
    • \n
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Retrieve a download lik of the report PDF which was generated for the case

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Retrieve the report data which was generated for the case

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This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]\",\n \"description\": \"SET nuclear proto-oncogene\",\n \"coding_exons\": 8,\n \"num_of_amino_acids\": 278,\n \"curated_transcript_gene_info\": {\n \"num_of_amino_acids\": 0\n }\n },\n \"is_mosaic\": false,\n \"snpeff_hgvs_g\": \"NC_000009.11:g.131451935_131451936insAACAGCAAGAAGCGATTGAACACAT\"\n }\n ]\n },\n {\n \"bin_name\": \"Additional Findings\",\n \"variants\": [\n {\n \"id\": \"chr5:112175210-112175211:4129bb3be6b9a138fa48f7080c14763a\",\n \"chr\": \"chr5\",\n \"gene\": \"APC\",\n \"depth\": 64,\n \"hgvs_c\": \"c.3920T>A\",\n \"hgvs_p\": \"p.Ile1307Lys\",\n \"disease\": \"No disease associated\",\n \"quality\": \"738.77\",\n \"coverage\": 64,\n \"position\": 112175211,\n \"zygosity\": \"Het\",\n \"alt_depth\": \"26 (41%)\",\n \"ref_depth\": \"38 (59%)\",\n \"transcript\": \"NM_000038.6\",\n \"variant_id\": \"chr5:112175210-112175211:4129bb3be6b9a138fa48f7080c14763a\",\n \"inheritance\": \"N/A\",\n \"variant_info\": \"NM_000038.6 | Chr5: 112175211 | Missense | rs1801155 | ClinVar ID: 822 | Inheritance model: N/A | OMIM number: N/A | Zygosity: Heterozygote\",\n \"classification\": 0,\n \"mapping_quality\": \"60.0\",\n \"variant_quality\": \"738.77\",\n \"family_zygosity\": {\n \"father\": \"Het\",\n \"mother\": \"N/A\",\n \"proband\": \"N/A\",\n \"show_on_report\": true,\n \"shared_with\": [\n \"Father\"\n ]\n },\n \"frequency\": \"0.201%\",\n \"gene_summary\": \"This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022]\",\n \"significance\": \"Additional Findings\",\n \"clinvar_id\": \"822\",\n \"disease_omim_id\": \"N/A\",\n \"variant_type\": \"snp\",\n \"end_position\": 112175211,\n \"genoox_classification\": 64,\n \"gnomad_aggregated\": 0.1855405862443149,\n \"vaf\": \"0.40625\",\n \"confidence\": \"HIGH\",\n \"effect\": \"Missense\",\n \"rs_id\": \"rs1801155\",\n \"custom_fields\": {\n \"gene_summary\": \"This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022]\"\n },\n \"ref\": \"T\",\n \"alt\": \"A\",\n \"classification_flag\": \"No classification\",\n \"hgvs_g\": \"chr5:g.112175211T>A (hg19)\",\n \"classification_color\": \"#000000\",\n \"amount_of_genes\": 1,\n \"predictions\": {\n \"revel_score\": 0.233,\n \"splice_ai_score\": 0.0,\n \"mt\": 0.985209,\n \"sift\": 0.086,\n \"polyphen\": 0.01,\n \"gerp\": 4.53\n },\n \"small_variant_variation_type\": \"snp\",\n \"diseases_data\": {\n \"omim_diseases_data\": {\n \"omim_diseases\": [\n {\n \"disease\": \"Desmoid tumor\",\n \"omim_ids\": [\n \"135290\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_DOMINANT\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/135290\"\n ]\n },\n {\n \"disease\": \"Hepatocellular carcinoma\",\n \"omim_ids\": [\n \"114550\"\n ],\n \"inheritance_models\": [\n \"UNKNOWN\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/114550\"\n ]\n },\n {\n \"disease\": \"Gastric cancer\",\n \"omim_ids\": [\n \"613659\"\n ],\n \"inheritance_models\": [\n \"UNKNOWN\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/613659\"\n ]\n },\n {\n \"disease\": \"Colorectal cancer\",\n \"omim_ids\": [\n \"114500\"\n ],\n \"inheritance_models\": [\n \"UNKNOWN\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/114500\"\n ]\n },\n {\n \"disease\": \"Familial adenomatous polyposis 1\",\n \"omim_ids\": [\n \"175100\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_DOMINANT\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/175100\"\n ]\n },\n {\n \"disease\": \"Gastric adenocarcinoma and proximal polyposis of the stomach\",\n \"omim_ids\": [\n \"619182\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_DOMINANT\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/619182\"\n ]\n }\n ]\n },\n \"inheritance_models\": [\n \"AUTOSOMAL_DOMINANT\",\n \"UNKNOWN\"\n ],\n \"inheritance_models_display_text\": [\n \"AD\",\n \"N/A\"\n ]\n },\n \"gnomad_aggregated_homc\": 7,\n \"non_refseq_hgvs_g\": \"chr5:g.112175211T>A (hg19)\",\n \"order_in_bin\": 0,\n \"gnomad_aggregated_allele_count\": 524,\n \"gnomad_max_sub_population_frequency\": 0.03759549558162689,\n \"family_coverage\": {\n \"coverage_data\": [\n {\n \"relation\": \"father\",\n \"alt_depth\": 40,\n \"alt_depth_with_percentage\": \"40 (56%)\"\n }\n ]\n },\n \"per_sample_data\": {\n \"per_sample_data\": [\n {\n \"relation\": \"proband\",\n \"zygosity\": \"N/A\"\n },\n {\n \"relation\": \"mother\",\n \"zygosity\": \"N/A\"\n },\n {\n \"sample_id\": \"tlv_0059_0_130\",\n \"relation\": \"father\",\n \"vaf\": 0.5555555555555556,\n \"zygosity\": \"Het\"\n }\n ]\n },\n \"affected_exons\": {\n \"start\": 16,\n \"end\": 16\n },\n \"num_exons_in_transcript\": 16,\n \"gene_omim_ids\": [\n \"611731\"\n ],\n \"gene_info\": {\n \"refseq_id\": \"NM_000038.6\",\n \"start_position\": 112073582,\n \"end_position\": 112181936,\n \"genomic_size\": 108355,\n \"num_of_exons\": 16,\n \"summary\": \"This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008]\",\n \"description\": \"APC regulator of WNT signaling pathway\",\n \"coding_exons\": 15,\n \"num_of_amino_acids\": 2844,\n \"curated_transcript_gene_info\": {\n \"num_of_amino_acids\": 0\n }\n },\n \"hgvs_p_single_letter\": \"p.Ile1307Lys\",\n \"is_mosaic\": false,\n \"snpeff_hgvs_g\": \"NC_000005.9:g.112175211T>A\"\n }\n ]\n }\n ],\n \"report_info\": {\n \"title\": \"IDT exome-NovaSeq\",\n \"physician\": \"Dr John Smith\",\n \"report_date\": \"11/10/2022\",\n \"analysis_date\": \"09/04/2023\",\n \"signed_by\": \"Genoox Demo\",\n \"report_status\": \"Amended\",\n \"revision_by\": \"Matan Levin, PhD\",\n \"revision_date\": \"20/08/2025\",\n \"signatures\": [\n {\n \"signer_name\": \"oron lev\",\n \"status\": \"Final\",\n \"date\": \"26/04/2022\"\n },\n {\n \"signer_name\": \"oron lev\",\n \"status\": \"Revision\",\n \"date\": \"26/04/2022\"\n },\n {\n \"signer_name\": \"oron lev\",\n \"status\": \"Addended\",\n \"date\": \"26/04/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"12/05/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"12/05/2022\"\n },\n {\n \"signer_name\": \"yaron_admin@genoox.com\",\n \"status\": \"Preliminary\",\n \"date\": \"08/06/2022\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary\",\n \"date\": \"03/08/2022\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary\",\n \"date\": \"03/08/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Final\",\n \"date\": \"11/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"11/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"11/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"11/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Amended\",\n \"date\": \"11/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"12/10/2022\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"14/11/2022\"\n },\n {\n \"signer_name\": \"yaron_admin@genoox.com\",\n \"status\": \"Preliminary revised\",\n \"date\": \"13/12/2022\"\n },\n {\n \"signer_name\": \"yaron_admin@genoox.com\",\n \"status\": \"Amended\",\n \"date\": \"12/01/2023\"\n },\n {\n \"signer_name\": \"yaron_admin@genoox.com\",\n \"status\": \"Revision\",\n \"date\": \"12/01/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"14/02/2023\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/02/2023\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/02/2023\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/02/2023\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Addended\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Addended\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Addended\",\n \"date\": \"27/02/2023\"\n },\n {\n \"signer_name\": \"yaron_admin@genoox.com\",\n \"status\": \"Revision\",\n \"date\": \"28/02/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"14/03/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"17/04/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/05/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"06/06/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"25/06/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"05/07/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"17/07/2023\"\n },\n {\n \"signer_name\": \"Carmen Cuenca\",\n \"status\": \"Amended\",\n \"date\": \"20/07/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Revision\",\n \"date\": \"24/07/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"08/08/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"11/09/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"19/10/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"31/10/2023\"\n },\n {\n \"signer_name\": \"Carmen Cuenca\",\n \"status\": \"Preliminary revised\",\n \"date\": \"21/12/2023\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/01/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Amended\",\n \"date\": \"05/02/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Revision\",\n \"date\": \"05/02/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Amended\",\n \"date\": \"05/02/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Revision\",\n \"date\": \"05/02/2024\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"14/02/2024\"\n },\n {\n \"signer_name\": \"Franklin the Panda\",\n \"status\": \"Preliminary revised\",\n \"date\": \"22/02/2024\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"28/02/2024\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"14/03/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"02/07/2024\"\n },\n {\n \"signer_name\": \"Genoox Demo\",\n \"status\": \"Preliminary revised\",\n \"date\": \"10/07/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Preliminary revised\",\n \"date\": \"08/08/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Amended\",\n \"date\": \"08/08/2024\"\n },\n {\n \"signer_name\": \"Carmen Cuenca\",\n \"status\": \"Revision\",\n \"date\": \"24/10/2024\"\n },\n {\n \"signer_name\": \"Carmen Cuenca\",\n \"status\": \"Preliminary revised\",\n \"date\": \"24/10/2024\"\n },\n {\n \"signer_name\": \"Carmen Cuenca\",\n \"status\": \"Amended\",\n \"date\": \"24/10/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Revision\",\n \"date\": \"18/11/2024\"\n },\n {\n \"signer_name\": \"Assaf Sheffer\",\n \"status\": \"Amended\",\n \"date\": \"18/11/2024\"\n },\n {\n \"signer_name\": \"Matan Levin, PhD\",\n \"status\": \"Revision\",\n \"date\": \"20/08/2025\"\n },\n {\n \"signer_name\": \"Matan Levin, PhD\",\n \"status\": \"Amended\",\n \"date\": \"20/08/2025\"\n }\n ]\n },\n \"sample_info\": {\n \"tissue_type\": \"Whole Blood\"\n },\n \"patient_info\": {\n \"id\": \"12345678\",\n \"sex\": \"Female\",\n \"name\": \"John Doe\",\n \"ethnicity\": \"Ashkenazi Jewish\",\n \"case_name\": \"DMO_5901\",\n \"description\": \"Complex brain and eye abnormalities were observed during pregnancy. Previous pregnancy was aborted due to similar findings. Clinical findings: Severe hydrocephalus,agenesis of corpus callosum, polyhdramnion, Suspected lissencephaly, retinal detachment, Z-shaped brainstem\",\n \"ped_tree_image\": 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\"consanguinity\": false\n },\n \"clinical_info\": {\n \"phenotypes\": [\n \"Retinal detachment\",\n \"Agenesis of corpus callosum\",\n \"Severe hydrocephalus\",\n \"Polyhydramnios\"\n ],\n \"phenotypes_description\": [\n {\n \"phenotype\": \"Retinal detachment\",\n \"hpo_name\": \"Retinal detachment\",\n \"hpo_id\": \"HP:0000541\"\n },\n {\n \"phenotype\": \"Agenesis of corpus callosum\",\n \"hpo_name\": \"Agenesis of corpus callosum\",\n \"hpo_id\": \"HP:0001274\"\n },\n {\n \"phenotype\": \"Severe hydrocephalus\",\n \"hpo_name\": \"Severe hydrocephalus\",\n \"hpo_id\": \"HP:0006882\"\n },\n {\n \"phenotype\": \"Polyhydramnios\",\n \"hpo_name\": \"Polyhydramnios\",\n \"hpo_id\": \"HP:0001561\"\n }\n ]\n },\n \"technical_info\": {\n \"disclaimer\": \"Test disclaimer was not configured\",\n \"description\": \"Test description was not configured\",\n \"limitations\": [\n \"Test limitations were not configured\"\n ],\n \"genes\": [\n \"FANCA\",\n \"RUNX1\",\n \"ABCC9\",\n \"ACADVL\",\n 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\"https://s3.amazonaws.com/resources.genoox.com/organization_logos/grtlab_logo.png\"\n },\n \"case_resolution_info\": {\n \"custom_fields\": {\n \"case_status\": \"Positive\"\n }\n },\n \"compound_variants_bin\": [\n {\n \"bin_name\": \"Causal Variants\",\n \"compound_variants\": [\n {\n \"first\": {\n \"id\": \"chr9:134398411-134398412:e5d1c94305980f095a5aac06a8a875c7\",\n \"chr\": \"chr9\",\n \"gene\": \"POMT1\",\n \"depth\": 96,\n \"hgvs_c\": \"c.2101dupG\",\n \"hgvs_p\": \"p.Asp701fs\",\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"quality\": \"1196.92\",\n \"coverage\": 96,\n \"diseases\": [\n \"Muscular dystrophy-dystroglycanopathy, type A\"\n ],\n \"position\": 134398412,\n \"zygosity\": \"Het\",\n \"alt_depth\": \"49 (51%)\",\n \"ref_depth\": \"47 (49%)\",\n \"transcript\": \"NM_001077365.2\",\n \"variant_id\": \"chr9:134398411-134398412:e5d1c94305980f095a5aac06a8a875c7\",\n \"inheritance\": \"AR\",\n \"variant_info\": \"NM_001077365.2 | Chr9: 134398412 | Frameshift | rs398124245 | ClinVar ID: 3255 | Inheritance model: AR | OMIM number: N/A | Zygosity: Heterozygote\",\n \"classification\": 64,\n \"interpretation\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"mapping_quality\": \"60.0\",\n \"variant_quality\": \"1196.92\",\n \"family_zygosity\": {\n \"father\": \"Het\",\n \"mother\": \"N/A\",\n \"proband\": \"N/A\",\n \"show_on_report\": true,\n \"shared_with\": [\n \"Father\"\n ]\n },\n \"frequency\": \"0.016%\",\n \"significance\": \"Causal Variants\",\n \"clinvar_id\": \"3255\",\n \"disease_omim_id\": \"N/A\",\n \"variant_type\": \"snp\",\n \"end_position\": 134398412,\n \"genoox_classification\": 128,\n \"gnomad_aggregated\": 0.016065003001131117,\n \"vaf\": \"0.5104166666666666\",\n \"confidence\": \"HIGH\",\n \"effect\": \"Frameshift\",\n \"rs_id\": \"rs398124245\",\n \"ref\": \"C\",\n \"alt\": \"CG\",\n \"classification_flag\": \"Likely Pathogenic\",\n \"hgvs_g\": \"chr9:g.134398416dup (hg19)\",\n \"classification_color\": \"#f19a2a\",\n \"amount_of_genes\": 1,\n \"predictions\": {\n \"splice_ai_score\": 0.0\n },\n \"small_variant_variation_type\": \"indel\",\n \"diseases_data\": {\n \"omim_diseases_data\": {\n \"omim_diseases\": [\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1\",\n \"omim_ids\": [\n \"613155\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/613155\"\n ]\n },\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1\",\n \"omim_ids\": [\n \"236670\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/236670\"\n ]\n },\n {\n \"disease\": \"Autosomal recessive limb-girdle muscular dystrophy type 2K\",\n \"omim_ids\": [\n \"609308\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/609308\"\n ]\n }\n ]\n },\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"inheritance_models_display_text\": [\n \"AR\"\n ]\n },\n \"gnomad_aggregated_homc\": 0,\n \"non_refseq_hgvs_g\": \"chr9:g.134398416dup (hg19)\",\n \"gnomad_aggregated_allele_count\": 45,\n \"gnomad_max_sub_population_frequency\": 0.00186428043525666,\n \"family_coverage\": {\n \"coverage_data\": [\n {\n \"relation\": \"father\",\n \"alt_depth\": 50,\n \"alt_depth_with_percentage\": \"50 (58%)\"\n }\n ]\n },\n \"per_sample_data\": {\n \"per_sample_data\": [\n {\n \"relation\": \"proband\",\n \"zygosity\": \"N/A\"\n },\n {\n \"relation\": \"mother\",\n \"zygosity\": \"N/A\"\n },\n {\n \"sample_id\": \"tlv_0059_0_130\",\n \"relation\": \"father\",\n \"vaf\": 0.5813953488372093,\n \"zygosity\": \"Het\"\n }\n ]\n },\n \"affected_exons\": {\n \"start\": 20,\n \"end\": 20\n },\n \"num_exons_in_transcript\": 20,\n \"gene_omim_ids\": [\n \"607423\"\n ],\n \"gene_info\": {\n \"refseq_id\": \"NM_001077365.2\",\n \"start_position\": 134378289,\n \"end_position\": 134399193,\n \"genomic_size\": 20905,\n \"num_of_exons\": 20,\n \"summary\": \"The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]\",\n \"description\": \"protein O-mannosyltransferase 1\",\n \"coding_exons\": 19,\n \"num_of_amino_acids\": 726,\n \"curated_transcript_gene_info\": {\n \"num_of_amino_acids\": 0\n }\n },\n \"hgvs_p_single_letter\": \"p.Asp701fs\",\n \"is_mosaic\": false\n },\n \"second\": {\n \"id\": \"chr9:134386499-134387868:ded96e2bf618b2e2cd2100982951b5ff\",\n \"chr\": \"chr9\",\n \"depth\": -1,\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"quality\": \"45.00\",\n \"coverage\": -1,\n \"diseases\": [\n \"Muscular dystrophy-dystroglycanopathy, type A\"\n ],\n \"position\": 134386500,\n \"zygosity\": \"Het\",\n \"transcript\": \"NM_001077365.1\",\n \"variant_id\": \"chr9:134386499-134387868:ded96e2bf618b2e2cd2100982951b5ff\",\n \"inheritance\": \"AR\",\n \"variant_info\": \"NM_001077365.1 | Chr9: 134386500 - 134387868 | Other | ClinVar ID: N/A | Inheritance model: AR | OMIM number: N/A | Zygosity: Heterozygote\",\n \"classification\": 128,\n \"interpretation\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"variant_quality\": \"45.00\",\n \"family_zygosity\": {\n \"father\": \"N/A\",\n \"mother\": \"Het\",\n \"proband\": \"Het\",\n \"show_on_report\": true,\n \"shared_with\": [\n \"Mother\"\n ],\n \"inherited_from\": \"mother\"\n },\n \"significance\": \"Causal Variants\",\n \"clinvar_id\": \"N/A\",\n \"disease_omim_id\": \"N/A\",\n \"sv_type\": \"DEL\",\n \"variant_type\": \"sv\",\n \"sv_length\": 1368,\n \"end_position\": 134387868,\n \"cipos\": {\n \"first\": 0,\n \"second\": 0\n },\n \"ciend\": {\n \"first\": 0,\n \"second\": 0\n },\n \"gene_list\": [\n \"POMT1\",\n \"RP11-334J6.6\"\n ],\n \"genoox_classification\": 64,\n \"confidence\": \"HIGH\",\n \"effect\": \"Other\",\n \"classification_flag\": \"Pathogenic\",\n \"hgvs_g\": \"NC_000009.11:g.134386500-134387868 del\",\n \"classification_color\": \"#e03a39\",\n \"sv_length_description\": \"1.37 Kb\",\n \"sv_type_full_name\": \"Deletion\",\n \"cytobands_description\": \"9q34.13\",\n \"amount_of_genes\": 2,\n \"diseases_data\": {\n \"omim_diseases_data\": {\n \"omim_diseases\": [\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1\",\n \"omim_ids\": [\n \"613155\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/613155\"\n ]\n },\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1\",\n \"omim_ids\": [\n \"236670\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/236670\"\n ]\n },\n {\n \"disease\": \"Autosomal recessive limb-girdle muscular dystrophy type 2K\",\n \"omim_ids\": [\n \"609308\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/609308\"\n ]\n }\n ]\n },\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"inheritance_models_display_text\": [\n \"AR\"\n ]\n },\n \"is_manually_called\": false,\n \"per_sample_data\": {\n \"per_sample_data\": [\n {\n \"sample_id\": \"124\",\n \"relation\": \"proband\",\n \"zygosity\": \"Het\"\n },\n {\n \"sample_id\": \"tlv_0059_0_131\",\n \"relation\": \"mother\",\n \"zygosity\": \"Het\"\n },\n {\n \"relation\": \"father\",\n \"zygosity\": \"N/A\"\n }\n ]\n },\n \"gene_omim_ids\": [\n \"607423\"\n ],\n \"gene_info\": {},\n \"is_mosaic\": false,\n \"iscn_seq\": \"sseq[GRCh37] del(9)(q34.13)\",\n \"iscn_gdot\": \"NC_000009.11:g.(134386500_134387868)del\"\n },\n \"interpretation\": {\n \"text\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"inheritance\": \"AR\"\n },\n \"significance\": \"Causal Variants\",\n \"order_in_bin\": 0\n }\n ]\n }\n ],\n \"compound_primary_findings\": [\n {\n \"first\": {\n \"id\": \"chr9:134398411-134398412:e5d1c94305980f095a5aac06a8a875c7\",\n \"chr\": \"chr9\",\n \"gene\": \"POMT1\",\n \"depth\": 96,\n \"hgvs_c\": \"c.2101dupG\",\n \"hgvs_p\": \"p.Asp701fs\",\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"quality\": \"1196.92\",\n \"coverage\": 96,\n \"diseases\": [\n \"Muscular dystrophy-dystroglycanopathy, type A\"\n ],\n \"position\": 134398412,\n \"zygosity\": \"Het\",\n \"alt_depth\": \"49 (51%)\",\n \"ref_depth\": \"47 (49%)\",\n \"transcript\": \"NM_001077365.2\",\n \"variant_id\": \"chr9:134398411-134398412:e5d1c94305980f095a5aac06a8a875c7\",\n \"inheritance\": \"AR\",\n \"variant_info\": \"NM_001077365.2 | Chr9: 134398412 | Frameshift | rs398124245 | ClinVar ID: 3255 | Inheritance model: AR | OMIM number: N/A | Zygosity: Heterozygote\",\n \"classification\": 64,\n \"interpretation\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"mapping_quality\": \"60.0\",\n \"variant_quality\": \"1196.92\",\n \"family_zygosity\": {\n \"father\": \"Het\",\n \"mother\": \"N/A\",\n \"proband\": \"N/A\",\n \"show_on_report\": true,\n \"shared_with\": [\n \"Father\"\n ]\n },\n \"frequency\": \"0.016%\",\n \"significance\": \"Causal Variants\",\n \"clinvar_id\": \"3255\",\n \"disease_omim_id\": \"N/A\",\n \"variant_type\": \"snp\",\n \"end_position\": 134398412,\n \"genoox_classification\": 128,\n \"gnomad_aggregated\": 0.016065003001131117,\n \"vaf\": \"0.5104166666666666\",\n \"confidence\": \"HIGH\",\n \"effect\": \"Frameshift\",\n \"rs_id\": \"rs398124245\",\n \"ref\": \"C\",\n \"alt\": \"CG\",\n \"classification_flag\": \"Likely Pathogenic\",\n \"hgvs_g\": \"chr9:g.134398416dup (hg19)\",\n \"classification_color\": \"#f19a2a\",\n \"amount_of_genes\": 1,\n \"predictions\": {\n \"splice_ai_score\": 0.0\n },\n \"small_variant_variation_type\": \"indel\",\n \"diseases_data\": {\n \"omim_diseases_data\": {\n \"omim_diseases\": [\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1\",\n \"omim_ids\": [\n \"613155\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/613155\"\n ]\n },\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1\",\n \"omim_ids\": [\n \"236670\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/236670\"\n ]\n },\n {\n \"disease\": \"Autosomal recessive limb-girdle muscular dystrophy type 2K\",\n \"omim_ids\": [\n \"609308\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/609308\"\n ]\n }\n ]\n },\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"inheritance_models_display_text\": [\n \"AR\"\n ]\n },\n \"gnomad_aggregated_homc\": 0,\n \"non_refseq_hgvs_g\": \"chr9:g.134398416dup (hg19)\",\n \"gnomad_aggregated_allele_count\": 45,\n \"gnomad_max_sub_population_frequency\": 0.00186428043525666,\n \"family_coverage\": {\n \"coverage_data\": [\n {\n \"relation\": \"father\",\n \"alt_depth\": 50,\n \"alt_depth_with_percentage\": \"50 (58%)\"\n }\n ]\n },\n \"per_sample_data\": {\n \"per_sample_data\": [\n {\n \"relation\": \"proband\",\n \"zygosity\": \"N/A\"\n },\n {\n \"relation\": \"mother\",\n \"zygosity\": \"N/A\"\n },\n {\n \"sample_id\": \"tlv_0059_0_130\",\n \"relation\": \"father\",\n \"vaf\": 0.5813953488372093,\n \"zygosity\": \"Het\"\n }\n ]\n },\n \"affected_exons\": {\n \"start\": 20,\n \"end\": 20\n },\n \"num_exons_in_transcript\": 20,\n \"gene_omim_ids\": [\n \"607423\"\n ],\n \"gene_info\": {\n \"refseq_id\": \"NM_001077365.2\",\n \"start_position\": 134378289,\n \"end_position\": 134399193,\n \"genomic_size\": 20905,\n \"num_of_exons\": 20,\n \"summary\": \"The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]\",\n \"description\": \"protein O-mannosyltransferase 1\",\n \"coding_exons\": 19,\n \"num_of_amino_acids\": 726,\n \"curated_transcript_gene_info\": {\n \"num_of_amino_acids\": 0\n }\n },\n \"hgvs_p_single_letter\": \"p.Asp701fs\",\n \"is_mosaic\": false\n },\n \"second\": {\n \"id\": \"chr9:134386499-134387868:ded96e2bf618b2e2cd2100982951b5ff\",\n \"chr\": \"chr9\",\n \"depth\": -1,\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"quality\": \"45.00\",\n \"coverage\": -1,\n \"diseases\": [\n \"Muscular dystrophy-dystroglycanopathy, type A\"\n ],\n \"position\": 134386500,\n \"zygosity\": \"Het\",\n \"transcript\": \"NM_001077365.1\",\n \"variant_id\": \"chr9:134386499-134387868:ded96e2bf618b2e2cd2100982951b5ff\",\n \"inheritance\": \"AR\",\n \"variant_info\": \"NM_001077365.1 | Chr9: 134386500 - 134387868 | Other | ClinVar ID: N/A | Inheritance model: AR | OMIM number: N/A | Zygosity: Heterozygote\",\n \"classification\": 128,\n \"interpretation\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"variant_quality\": \"45.00\",\n \"family_zygosity\": {\n \"father\": \"N/A\",\n \"mother\": \"Het\",\n \"proband\": \"Het\",\n \"show_on_report\": true,\n \"shared_with\": [\n \"Mother\"\n ],\n \"inherited_from\": \"mother\"\n },\n \"significance\": \"Causal Variants\",\n \"clinvar_id\": \"N/A\",\n \"disease_omim_id\": \"N/A\",\n \"sv_type\": \"DEL\",\n \"variant_type\": \"sv\",\n \"sv_length\": 1368,\n \"end_position\": 134387868,\n \"cipos\": {\n \"first\": 0,\n \"second\": 0\n },\n \"ciend\": {\n \"first\": 0,\n \"second\": 0\n },\n \"gene_list\": [\n \"POMT1\",\n \"RP11-334J6.6\"\n ],\n \"genoox_classification\": 64,\n \"confidence\": \"HIGH\",\n \"effect\": \"Other\",\n \"classification_flag\": \"Pathogenic\",\n \"hgvs_g\": \"NC_000009.11:g.134386500-134387868 del\",\n \"classification_color\": \"#e03a39\",\n \"sv_length_description\": \"1.37 Kb\",\n \"sv_type_full_name\": \"Deletion\",\n \"cytobands_description\": \"9q34.13\",\n \"amount_of_genes\": 2,\n \"diseases_data\": {\n \"omim_diseases_data\": {\n \"omim_diseases\": [\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1\",\n \"omim_ids\": [\n \"613155\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/613155\"\n ]\n },\n {\n \"disease\": \"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1\",\n \"omim_ids\": [\n \"236670\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/236670\"\n ]\n },\n {\n \"disease\": \"Autosomal recessive limb-girdle muscular dystrophy type 2K\",\n \"omim_ids\": [\n \"609308\"\n ],\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"omim_urls\": [\n \"http://www.omim.org/entry/609308\"\n ]\n }\n ]\n },\n \"inheritance_models\": [\n \"AUTOSOMAL_RECESSIVE\"\n ],\n \"inheritance_models_display_text\": [\n \"AR\"\n ]\n },\n \"is_manually_called\": false,\n \"per_sample_data\": {\n \"per_sample_data\": [\n {\n \"sample_id\": \"124\",\n \"relation\": \"proband\",\n \"zygosity\": \"Het\"\n },\n {\n \"sample_id\": \"tlv_0059_0_131\",\n \"relation\": \"mother\",\n \"zygosity\": \"Het\"\n },\n {\n \"relation\": \"father\",\n \"zygosity\": \"N/A\"\n }\n ]\n },\n \"gene_omim_ids\": [\n \"607423\"\n ],\n \"gene_info\": {},\n \"is_mosaic\": false,\n \"iscn_seq\": \"sseq[GRCh37] del(9)(q34.13)\",\n \"iscn_gdot\": \"NC_000009.11:g.(134386500_134387868)del\"\n },\n \"interpretation\": {\n \"text\": \"This variant resides in Exon 19 (out of 20). The duplication causes a frameshift starting with codon Aspartic acid 701, creating a truncated protein, in a gene in which loss of function is a known disease mechanism. The region in which the variant resides is critical to protein function, and contains 10 known pathogenic variants. This variant has an extremely low frequency in population dbs, is mostly found within the Ashkenazi Jewish background, and has not been observed in a homozygous state. In addition this variant has been reported on CliVar as pathogenic multiple times and in multiple individuals who presented with POMT1-related disorders, and has been reported in 21 affected cases in the Franklin community, some of which with reportable nervous system and/or eye associated phenotypes. Therefore, the Genoox automated classification engine has classified this variant as Pathogenic.


\",\n \"disease\": \"Muscular dystrophy-dystroglycanopathy, type A\",\n \"inheritance\": \"AR\"\n },\n \"significance\": \"Causal Variants\",\n \"order_in_bin\": 0\n }\n ],\n \"qc\": {\n \"family\": {\n \"samples\": [\n {\n \"relation\": \"proband\",\n \"sample_name\": \"DMO_0059_01 Sample Analysis\",\n \"coverage_data\": {\n \"relation\": \"proband\",\n \"avg_depth_targeted_exome\": 93.96,\n \"avg_depth_refseq_exome\": 91.49,\n \"percent_targeted_exome_covered\": 97.46,\n \"sample_name\": \"DMO_0059_01 Sample Analysis\",\n \"genes_coverage_percentage_stats\": {\n \"percent_covered_over_fully\": 0.9549309611320496,\n \"percent_covered_over_medium\": 0.9549309611320496,\n \"percent_covered_over_low\": 0.9549309611320496,\n \"percent_not_covered\": 0.9688453078269958,\n \"percent_covered_over_first_user_threshold\": 0.9688453078269958,\n \"percent_covered_over_second_user_threshold\": 0.9650760293006897,\n \"percent_covered_over_third_user_threshold\": 0.9631381630897522,\n \"percent_covered_over_fourth_user_threshold\": 0.8140432238578796,\n \"percent_covered_over_fifth_user_threshold\": 0.34240400791168213\n },\n \"kit_coverage_percentage_stats\": {\n \"percent_covered_over_fully\": 0.974632203578949,\n \"percent_covered_over_medium\": 0.974632203578949,\n \"percent_covered_over_low\": 0.974632203578949,\n \"percent_not_covered\": 0.9850596785545349,\n \"percent_covered_over_first_user_threshold\": 0.9850596785545349,\n \"percent_covered_over_second_user_threshold\": 0.9826563000679016,\n \"percent_covered_over_third_user_threshold\": 0.9809049367904663,\n \"percent_covered_over_fourth_user_threshold\": 0.8453972339630127,\n \"percent_covered_over_fifth_user_threshold\": 0.3595588207244873\n },\n \"virtual_panel_coverage_percentage_stats\": {}\n },\n \"ti_tv_ratio\": 2.87225604057312,\n \"hom_het_ratio\": 0.5546413064002991,\n \"num_valid_variants\": 115649,\n \"num_genes_with_variants\": 10467,\n \"num_exonic_variants\": 28956,\n 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Ancillary studies for POLE mutations, mismatch repair (MMR)/MSI, and aberrant p53 expression are encouraged to complement morphologic assessment of histologic tumor type (category 2A).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\"\n },\n {\n \"id\": \"CURATION10024\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN guidelines give a diagnostic algorithm for integrated genomic-pathologic classification of endometrial carcinomas. 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For recurrent endometrial cancer, NCCN recommends MSI-H or dMMR testing if not previously done.\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10043\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10030\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10003\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10021\",\n \"details\": \"FDA CURATION10021 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The Food and Drug Administration granted accelerated approval to ipilimumab for use in combination with nivolumab for the treatment of patients 12 years of age and older with microsatellite instability-high (MSI-H)\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-CTLA-4 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Yervoy\",\n \"name\": \"Ipilimumab\",\n \"details_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"FDA CURATION10004 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The U.S. Food and Drug Administration approved Keytruda (pembrolizumab) for intravenous injection for the first-line treatment of patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) colorectal cancer.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10005\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a subsequent therapy option following therapy with or without oxaliplatin/irinotecan for advanced or metastatic rectal cancer with dMMR/MSI-H, if no previous treatment with a checkpoint inhibitor was given (category 2A). If disease response, consider discontinuing checkpoint inhibitor after 2 years of treatment.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/rectal.pdf\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10026\",\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The checkpoint inhibitor, dostarlimab-gxly, has also been investigated as neoadjuvant therapy in a small phase II study of patients with dMMR/MSIH stage II or III rectal cancer. In this study, patients were initially treated with dostarlimab-gxly for 6 months, with chemoRT and surgery planned for those with residual disease. Remarkably, all 12 patients in this trial showed a complete clinical response to dostarlimab-gxly and no patients at the date of publication had required chemoRT or surgery. No cases of progression or recurrence were reported during follow-up (range, 6–25 months).\\\"\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"PMID: 35660797\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"PUBMED\",\n \"explicitly_in_report\": true\n }\n ]\n },\n \"gnx_classification\": \"TIER_1\"\n },\n \"name\": \"MSI\",\n \"resistant_drugs\": [\n {\n \"id\": \"CURATION10026\",\n \"details\": \"FDA CURATION10026 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab in combination with lenvatinib, for the treatment of patients with advanced endometrial carcinoma that is not MSI-H or dMMR, who have disease progression following prior systemic therapy and are not candidates for curative surgery or radiation.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Endometrial Cancer\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n }\n ],\n \"responsive_drugs\": [\n {\n \"id\": \"CURATION10052\",\n \"details\": \"FDA CURATION10052 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved dostarlimab-gxly in combination with carboplatin and paclitaxel, followed by dostarlimab-gxly as a single agent, is indicated for the treatment of adult patients with primary advanced or recurrent endometrial cancer (EC) that is mismatch repair deficient (dMMR), as determined by an FDAapproved test, or microsatellite instability-high (MSI-H). Clinical Feature: Age>18 | Disease stage: advanced or recurrent disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf\",\n \"evidence_disease\": \"Endometrial cancer\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10072\",\n \"details\": \"FDA CURATION10072 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved dostarlimab-gxly in combination with carboplatin and paclitaxel, followed by dostarlimab-gxly as a single agent, is indicated for the treatment of adult patients with primary advanced or recurrent endometrial cancer (EC) that is mismatch repair deficient (dMMR), as determined by an FDAapproved test, or microsatellite instability-high (MSI-H). Clinical Feature: Age>18 | Disease stage: advanced or recurrent disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf\",\n \"evidence_disease\": \"Endometrial cancer\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10064\",\n \"details\": \"FDA CURATION10064 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Select patients for treatment with pembrolizumab as a single agent based on MSI-H/dMMR status in tumor specimens. Clinical Feature: Age<18 | Age>18 | Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10024\",\n \"details\": \"FDA CURATION10024 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10005\",\n \"details\": \"FDA CURATION10005 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"Keytruda (pembrolizumab) is indicated for the treatment of adult and pediatric patients with unresectable or metastatic solid tumors that have been identified as having a biomarker referred to as microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR).\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-cancer-treatment-any-solid-tumor-specific-genetic-feature.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-cancer-treatment-any-solid-tumor-specific-genetic-feature\",\n \"evidence_disease\": \"SOLID TUMOR\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10056\",\n \"details\": \"FDA CURATION10056 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Select patients for treatment with pembrolizumab as a single agent based on MSI-H/dMMR status in tumor specimens. Clinical Feature: Age<18 | Age>18 | Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10039\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends nivolumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Opdivo\",\n \"name\": \"Nivolumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10021\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends nivolumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Opdivo\",\n \"name\": \"Nivolumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10009\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends pembrolizumab as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy (category 2A, useful in certain circumstances). For recurrent endometrial cancer, NCCN recommends MSI-H or dMMR testing if not previously done.\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10035\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends pembrolizumab as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy (category 2A, useful in certain circumstances). For recurrent endometrial cancer, NCCN recommends MSI-H or dMMR testing if not previously done.\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10043\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10030\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10003\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10021\",\n \"details\": \"FDA CURATION10021 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The Food and Drug Administration granted accelerated approval to ipilimumab for use in combination with nivolumab for the treatment of patients 12 years of age and older with microsatellite instability-high (MSI-H)\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-CTLA-4 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Yervoy\",\n \"name\": \"Ipilimumab\",\n \"details_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"FDA CURATION10004 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The U.S. Food and Drug Administration approved Keytruda (pembrolizumab) for intravenous injection for the first-line treatment of patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) colorectal cancer.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10005\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a subsequent therapy option following therapy with or without oxaliplatin/irinotecan for advanced or metastatic rectal cancer with dMMR/MSI-H, if no previous treatment with a checkpoint inhibitor was given (category 2A). If disease response, consider discontinuing checkpoint inhibitor after 2 years of treatment.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/rectal.pdf\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10026\",\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The checkpoint inhibitor, dostarlimab-gxly, has also been investigated as neoadjuvant therapy in a small phase II study of patients with dMMR/MSIH stage II or III rectal cancer. In this study, patients were initially treated with dostarlimab-gxly for 6 months, with chemoRT and surgery planned for those with residual disease. Remarkably, all 12 patients in this trial showed a complete clinical response to dostarlimab-gxly and no patients at the date of publication had required chemoRT or surgery. No cases of progression or recurrence were reported during follow-up (range, 6–25 months).\\\"\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"PMID: 35660797\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"PUBMED\",\n \"explicitly_in_report\": true\n }\n ],\n \"biomarker_drugs\": [\n {\n \"name\": \"Avelumab\",\n \"fda\": \"-\",\n \"nccn\": \"A\"\n },\n {\n \"name\": \"Dostarlimab-gxly\",\n \"fda\": \"A\",\n \"nccn\": \"A\"\n },\n {\n \"name\": \"Ipilimumab\",\n \"fda\": \"C\",\n \"nccn\": \"-\"\n },\n {\n \"name\": \"Nivolumab\",\n \"fda\": \"-\",\n \"nccn\": \"A\"\n },\n {\n \"name\": \"Pembrolizumab\",\n \"fda\": \"A\",\n \"nccn\": \"A\"\n }\n ]\n },\n {\n \"biomarker\": {\n \"score\": 34.3,\n \"level\": \"HIGH\",\n \"classification\": \"TIER_1\",\n \"evidence\": {\n \"therapeutic\": [\n {\n \"id\": \"CURATION9\",\n \"details\": \"FDA CURATION9 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION8\",\n \"details\": \"FDA CURATION8 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION22\",\n \"details\": \"FDA CURATION22 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Clinical Feature: Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION25\",\n \"details\": \"FDA CURATION25 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Clinical Feature: Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION26\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"The NCCN Panel recommends pembrolizumab as first-line or subsequent therapy option for advanced, recurrent/metastatic or inoperable Endometrial carcinoma (category 2A, useful in certain circumstances). For the treatment of patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] tumors, as determined by a validated and/or FDA-approved test, that have progressed following prior treatment and have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION9\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN guidelines recommend pembrolizumab as a recurrence therapy for malignant germ cell tumors with TMB-H tumors ≥10 mutations/megabase (category 2A, other recommended regimen).\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/ovarian.pdf\",\n \"evidence_disease\": \"Malignant germ cell tumor\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION8\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN Panel recommends pembrolizumab as second-line or subsequent therapy option for advanced, recurrent/metastatic or inoperable uterine sarcoma (category 2A, useful in certain circumstances). For the treatment of patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] tumors, as determined by a validated and/or FDA-approved test, that have progressed following prior treatment and have no satisfactory alternative treatment options.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"uterine corpus sarcoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n }\n ]\n },\n \"gnx_classification\": \"TIER_1\"\n },\n \"name\": \"TMB\",\n \"responsive_drugs\": [\n {\n \"id\": \"CURATION9\",\n \"details\": \"FDA CURATION9 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION8\",\n \"details\": \"FDA CURATION8 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION22\",\n \"details\": \"FDA CURATION22 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Clinical Feature: Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION25\",\n \"details\": \"FDA CURATION25 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Clinical Feature: Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"label\": \"FDA Approved\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION26\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"The NCCN Panel recommends pembrolizumab as first-line or subsequent therapy option for advanced, recurrent/metastatic or inoperable Endometrial carcinoma (category 2A, useful in certain circumstances). For the treatment of patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] tumors, as determined by a validated and/or FDA-approved test, that have progressed following prior treatment and have no satisfactory alternative treatment options.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"label\": \"Professional Guidelines\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION9\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN guidelines recommend pembrolizumab as a recurrence therapy for malignant germ cell tumors with TMB-H tumors ≥10 mutations/megabase (category 2A, other recommended regimen).\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/ovarian.pdf\",\n \"evidence_disease\": \"Malignant germ cell tumor\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION8\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN Panel recommends pembrolizumab as second-line or subsequent therapy option for advanced, recurrent/metastatic or inoperable uterine sarcoma (category 2A, useful in certain circumstances). For the treatment of patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] tumors, as determined by a validated and/or FDA-approved test, that have progressed following prior treatment and have no satisfactory alternative treatment options.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"uterine corpus sarcoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n }\n ],\n \"biomarker_drugs\": [\n {\n \"name\": \"Pembrolizumab\",\n \"fda\": \"A\",\n \"nccn\": \"A\"\n }\n ]\n }\n ],\n \"title\": \"Strong clinical significance - Tier 1\",\n \"total\": 2,\n \"total_therapies\": 2\n },\n \"tier2\": {\n \"classification\": \"TIER_2\",\n \"variants\": [\n {\n \"id\": \"chr10:89717714-89717715:bdf9326388d4e9f43491641407bbf722\",\n \"chr\": \"chr10\",\n \"gene\": \"PTEN\",\n \"vaf\": \"69.74\",\n \"drugs\": [\n {\n \"id\": \"FDA507\",\n \"details\": \"FDA FDA507 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved capivasertib in combination with fulvestrant, is indicated for the treatment of adult patients with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alteration as detected by an FDA-approved test following progression on at least one endocrine-based regimen in the metastatic setting or recurrence on or within 12 months of completing adjuvant therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Serine/threonine protein kinase inhibitor\",\n \"outcome\": true,\n \"name\": \"Capivasertib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf\",\n \"evidence_disease\": \"Her2-receptor negative breast cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"INNER_CIV4559\",\n \"pubmed_id\": 25672916,\n \"details\": \"CIVIC EID714 Level B | Rating 3\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel therapy in a phase I study in advanced solid cancers.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Alkylating agent, Chemotherapeutic agent\",\n \"outcome\": true,\n \"trade_name\": \"Paraplatin\",\n \"name\": \"Carboplatin\",\n \"details_url\": \"https://civicdb.org/evidence/714\",\n \"responsive\": true,\n \"evidence_url\": \"https://civicdb.org/evidence/714\",\n \"evidence_disease\": \"Cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"CIVIC\",\n \"pubmed_ids\": [\n 25672916\n ],\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"3.977218511863612E-6\",\n \"hgvs_c\": \"c.741dup\",\n \"hgvs_p\": \"p.Pro248Thrfs*5\",\n \"coverage\": 1966,\n \"position\": 89717715,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"p.Pro248Thrfs*5, a frameshift variant in the PTEN, a tumor suppressor gene.The variant resides within the PTEN_C2 domain.The variant was reported in COSMIC (COSV64288676) and ClinVar (142259).The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Pro248Thrfs*5 | c.741dup | NM_000314.8 | CHR10: 89717715 None | VAF: 69.74% | Coverage: 1966 | COSMIC ID: COSV64288676 | rs587782341 | ClinVar ID: RCV000541432, RCV000131274, RCV000520431, RCV003453082, RCV002483266\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase (PTEN), is a tumor suppressor with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway. PTEN is one of the most frequently mutated genes in human cancer. PTEN somatic alterations including R130G, R130Q, R130*, R233*, T319fs, T267fs, and R173C and loss of function mutations have been found in many types of cancer including, melanoma, endometrial, and prostate. PTEN germline mutations are common in a group of disorders referred to jointly as the 'PTEN hamartoma tumor syndrome (PHTS)', which is associated with glioma, breast and thyroid cancer.\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_000314.8\",\n \"variant_id\": \"chr10:89717714-89717715:bdf9326388d4e9f43491641407bbf722\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT4526470\",\n \"brief_title\": \"Alpelisib and Paclitaxel in PIK3CA-altered Gastric Cancer\",\n \"official_title\": \"Phase IB/II Study of Alpelisib in Combination With Paclitaxel in Patients With PIK3CA-altered Metastatic/Recurrent Gastric Cancer\",\n \"brief_summary\": \" Alpelisib (BYL719) is a PIK3CA-specific inhibitor, which was developed by Novartis (Basel,\\r Switzerland). Our group conducted pre-clinical study of alpelisib in eight gastric cancer\\r cell lines: four PIK3CA wild-type (SNU638, SNU668, SNU1, and SNU16) and four PIK3CA mutant\\r (SNU719, AGS, SNU601, and MKN). As a result, alpelisib preferentially inhibited the growth of\\r gastric cancer cells with PIK3CA mutations. In addition, alpelisib inhibited cell growth via\\r G1 arrest and subsequently induces apoptosis in GC cells, and this effect is more remarkable\\r in cells harboring PIK3CA mutations. Moreover, alpelisib in combination with paclitaxel\\r showed synergistic cytotoxic effects and significantly increased apoptosis compared with\\r alpelisib or paclitaxel monotherapy in GC cells.\\r \\r The purpose of the study is to define the maximal tolerated dose (MTD) and recommended phase\\r II dose (RP2D) of paclitaxel and alpelisib combination therapy in patients with advanced\\r tumors and to evaluate the efficacy of paclitaxel and AZD8186 combination therapy as a\\r second-line therapy in patients with advanced gastric cancer with PTEN aberrations. This\\r study is divided into Phase IB and Phase II.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|Stomach Cancer\",\n \"interventions\": \"DRUG: Alpelisib|DRUG: Paclitaxel\",\n \"gender\": \"All\",\n \"age\": \"20 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Other: Seoul National University Bundang Hospital\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"B-2004/604-002\",\n \"start_date\": \"September 2020\",\n \"primary_completion_date\": \"June 2023\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"August 2020\",\n \"last_update_posted\": \"August 2021\",\n \"locations\": \"Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Korea, Republic of|Asan Medical Center, Seoul, Korea, Republic of\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04526470\",\n \"genes\": [\n \"PTEN\",\n \"PIK3CA\",\n \"GC\"\n ],\n \"countries\": [\n \"Korea, Republic of\"\n ]\n },\n {\n \"nct_number\": \"NCT5023655\",\n \"brief_title\": \"Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation\",\n \"official_title\": \"A Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation\",\n \"brief_summary\": \" The FDA approved targeted agent tazemetostat inhibits EZH2 and induces durable tumor\\r responses in patients with B-cell non-Hodgkin's lymphoma and epithelioid sarcomas. Responses\\r have also been demonstrated in INI1 and SMARCA4 negative solid tumors patients. Since EZH2\\r plays a critical role in driving the biology of ARID1A mutated malignancies, we hypothesize\\r that inhibition of EZH2 with tazemetostat will lead to significant clinical benefit in ARID1A\\r mutated malignancies.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|ARID1A Gene Mutation\",\n \"interventions\": \"DRUG: Tazemetostat\",\n \"collaborators\": \"Industry: Ipsen\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Prisma Health-Upstate\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"EPZ-IST-001\",\n \"start_date\": \"January 2022\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"August 2021\",\n \"last_update_posted\": \"April 2023\",\n \"locations\": \"Prisma Health Cancer Institute, Greenville, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05023655\",\n \"genes\": [\n \"PTEN\",\n \"SMARCA4\",\n \"GC\",\n \"PIK3CA\",\n \"ARID1A\",\n \"EZH2\",\n \"PIK3IP1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5276973\",\n \"brief_title\": \"Testing the Addition of Ipatasertib to the Usual Chemotherapy Treatment (Paclitaxel and Carboplatin) for Stage III or IV Epithelial Ovarian Cancer\",\n \"official_title\": \"Phase I/IB Safety and Pharmacodynamic Study of Neoadjuvant (NACT) Paclitaxel and Carboplatin With Ipatasertib as Initial Therapy of Ovarian Cancer PTMA 100805\",\n \"brief_summary\": \" This phase I/IB trial tests the safety, side effects, and best dose of ipatasertib in\\r combination with paclitaxel and carboplatin in treating patients with stage III or IV\\r epithelial ovarian cancer. Ipatasertib may stop the growth of tumor cells by blocking some of\\r the enzymes needed for cell growth. Paclitaxel is in a class of medications called taxanes.\\r It stops tumor cells from growing and dividing and may kill them. Carboplatin is in a class\\r of medications known as platinum-containing compounds. It works in a way similar to the\\r anticancer drug cisplatin, but may be better tolerated than cisplatin. Carboplatin works by\\r killing, stopping or slowing the growth of tumor cells. Giving ipatasertib in combination\\r with paclitaxel and carboplatin may lower the chance of the tumor growing or spreading for\\r longer than the paclitaxel and carboplatin alone.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma|Unresectable Ovarian High Grade Serous Adenocarcinoma|Fallopian Tube High Grade Serous Adenocarcinoma|Stage IV Fallopian Tube Cancer AJCC v8|Ovarian High Grade Serous Adenocarcinoma|Stage III Primary Peritoneal Cancer AJCC v8|Unresectable Ovarian Endometrioid Adenocarcinoma|Unresectable Fallopian Tube High Grade Serous Adenocarcinoma|Primary Peritoneal High Grade Serous Adenocarcinoma|Ovarian Endometrioid Adenocarcinoma|Stage IV Primary Peritoneal Cancer AJCC v8|Fallopian Tube Endometrioid Adenocarcinoma|Stage III Fallopian Tube Cancer AJCC v8|Stage IV Ovarian Cancer AJCC v8|Primary Peritoneal Endometrioid Adenocarcinoma|Unresectable Fallopian Tube Endometrioid Adenocarcinoma|Stage III Ovarian Cancer AJCC v8|Unresectable Primary Peritoneal Endometrioid Adenocarcinoma\",\n \"interventions\": \"DRUG: Carboplatin|DRUG: Ipatasertib|DRUG: Paclitaxel|PROCEDURE: Biopsy\",\n \"collaborators\": \"Other: NRG Oncology\",\n \"gender\": \"Female\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"NIH: National Cancer Institute (NCI)\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NCI-2022-01930|NRG-GY027|U10CA180868\",\n \"start_date\": \"September 2022\",\n \"primary_completion_date\": \"June 2024\",\n \"completion_date\": \"June 2024\",\n \"first_posted\": \"March 2022\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States|Virginia Commonwealth University/Massey Cancer Center, Richmond, Virginia, United States|University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States|Medical College of Wisconsin, Milwaukee, Wisconsin, United States|Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05276973\",\n \"genes\": [\n \"PTEN\",\n \"TP53\",\n \"PIK3CA\",\n \"PTMA\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"responsive_drugs\": [\n \"Capivasertib\",\n \"Carboplatin\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"INDEL\",\n \"end_position\": 89717715,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"responsive\": [\n {\n \"id\": \"FDA507\",\n \"details\": \"FDA FDA507 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved capivasertib in combination with fulvestrant, is indicated for the treatment of adult patients with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alteration as detected by an FDA-approved test following progression on at least one endocrine-based regimen in the metastatic setting or recurrence on or within 12 months of completing adjuvant therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Serine/threonine protein kinase inhibitor\",\n \"outcome\": true,\n \"name\": \"Capivasertib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf\",\n \"evidence_disease\": \"Her2-receptor negative breast cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"INNER_CIV4559\",\n \"pubmed_id\": 25672916,\n \"details\": \"CIVIC EID714 Level B | Rating 3\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel therapy in a phase I study in advanced solid cancers.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Alkylating agent, Chemotherapeutic agent\",\n \"outcome\": true,\n \"trade_name\": \"Paraplatin\",\n \"name\": \"Carboplatin\",\n \"details_url\": \"https://civicdb.org/evidence/714\",\n \"responsive\": true,\n \"evidence_url\": \"https://civicdb.org/evidence/714\",\n \"evidence_disease\": \"Cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"CIVIC\",\n \"pubmed_ids\": [\n 25672916\n ],\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 7,\n \"end\": 7\n },\n \"num_exons_in_transcript\": 9,\n \"clinvar_id\": [\n \"142259\"\n ],\n \"gnomad_aggregated\": 0.000003977218511863612,\n \"variant_drugs\": [\n {\n \"name\": \"Capivasertib\",\n \"fda\": \"C\",\n \"nccn\": \"-\"\n },\n {\n \"name\": \"Carboplatin\",\n \"fda\": \"-\",\n \"nccn\": \"-\"\n }\n ],\n \"alt\": \"TA\",\n \"ref\": \"T\",\n \"variant_quality\": 19568.8,\n \"ref_depth\": 594,\n \"alt_depth\": 1371,\n \"cosmic_ids\": [\n \"COSV64288676\"\n ],\n \"dbsnp\": \"rs587782341\",\n \"somatic_interpretation_text\": \"p.Pro248Thrfs*5, a frameshift variant in the PTEN, a tumor suppressor gene.
The variant resides within the PTEN_C2 domain.
The variant was reported in COSMIC (COSV64288676) and ClinVar (142259).
The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1966,\n \"gene_coverage_data\": {\n \"percent_covered\": \"91.89\",\n \"average_coverage\": \"1501.60\",\n \"median_coverage\": 1264,\n \"max_coverage\": 4281,\n \"min_coverage\": 10\n },\n \"hgvs_p_single_letter\": \"p.P248Tfs*5\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 0,\n \"same_ref_alt_amino_acid_count\": 0\n },\n \"oncogenic_classification\": \"Oncogenic\",\n \"oncogenic_classification_display_name\": \"Oncogenic\"\n },\n {\n \"id\": \"chr3:37038113-37038114:b82dcc042094304f4e19b317fbd69c16\",\n \"chr\": \"chr3\",\n \"gene\": \"MLH1\",\n \"vaf\": \"7.12\",\n \"drugs\": [\n {\n \"id\": \"FDA531\",\n \"details\": \"FDA FDA531 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA442\",\n \"details\": \"FDA FDA442 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"hgvs_c\": \"c.-168-1G>T\",\n \"hgvs_p\": \"\",\n \"coverage\": 1179,\n \"position\": 37038114,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"c.-168-1G>T, a variant in the MLH1, a tumor suppressor gene.The variant resides within the HATPase_c, HATPase_c_3 domains.The variant was reported in COSMIC (COSV99212419) and ClinVar (1752818).The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"c.-168-1G>T | NM_001354620.2 | CHR3: 37038114 None | VAF: 7.12% | Coverage: 1179 | COSMIC ID: COSV99212419 | ClinVar ID: RCV002353985, RCV003103288\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"MutL Homolog 1 (MLH1), is a tumor suppressor that is a DNA mismatch repair protein, and is associated with microsatellite instability (MSI) and genomic stability. Germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome. Somatic mutations in MLH1 occur in multiple tissue types, but are most common in a specific subset of sporadic colon, gastric and endometrial cancers. MLH1 promoter hypermethylation, resulting in MLH1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers. Defects in the MMR pathway have been associated with improved response to radiotherapy, chemotherapy and immunotherapy.\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_001354620.2\",\n \"variant_id\": \"chr3:37038113-37038114:b82dcc042094304f4e19b317fbd69c16\",\n \"classification\": \"TIER_2\",\n \"responsive_drugs\": [\n \"Talazoparib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 37038114,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"Medium\",\n \"responsive\": [\n {\n \"id\": \"FDA531\",\n \"details\": \"FDA FDA531 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA442\",\n \"details\": \"FDA FDA442 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 19,\n \"clinvar_id\": [\n \"1752818\"\n ],\n \"variant_drugs\": [\n {\n \"name\": \"Talazoparib\",\n \"fda\": \"C\",\n \"nccn\": \"-\"\n }\n ],\n \"alt\": \"T\",\n \"ref\": \"G\",\n \"variant_quality\": 303.006,\n \"ref_depth\": 1095,\n \"alt_depth\": 84,\n \"cosmic_ids\": [\n \"COSV99212419\"\n ],\n \"dbsnp\": \"\",\n \"somatic_interpretation_text\": \"c.-168-1G>T, a variant in the MLH1, a tumor suppressor gene.
The variant resides within the HATPase_c, HATPase_c_3 domains.
The variant was reported in COSMIC (COSV99212419) and ClinVar (1752818).
The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1179,\n \"gene_coverage_data\": {\n \"percent_covered\": \"98.77\",\n \"average_coverage\": \"2148.91\",\n \"median_coverage\": 1971,\n \"max_coverage\": 5370,\n \"min_coverage\": 22\n },\n \"hgvs_p_single_letter\": \"\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 0,\n \"same_ref_alt_amino_acid_count\": 0\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\"\n },\n {\n \"id\": \"chr12:25398283-25398284:4f0e45ad7e8b66423281ee15776a01de\",\n \"chr\": \"chr12\",\n \"gene\": \"KRAS\",\n \"vaf\": \"12.17\",\n \"drugs\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Fruquintinib\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"4.056257694173837E-6\",\n \"hgvs_c\": \"c.35G>A\",\n \"hgvs_p\": \"p.Gly12Asp\",\n \"coverage\": 1989,\n \"position\": 25398284,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"KRAS G12D mutation falls within a hotspot of the KRAS gene, and results in a loss of GTPase activity, which in turn leads to a constitutively active form of KRAS . The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Gly12Asp | c.35G>A | NM_004985.5 | CHR12: 25398284 None | VAF: 12.17% | Coverage: 1989 | COSMIC ID: COSV55865099;COSV55497369;COSM25877 | rs121913529 | ClinVar ID: RCV000272938, RCV000144969, RCV002508117, RCV000548006, RCV005007840, RCV004018620, RCV000856666, RCV000144970, RCV000022799, RCV004668724, RCV001799604, RCV000150897, RCV000029214, RCV000585796, RCV000150896, RCV004554600, RCV005251035, RCV003327361, RCV000029215, RCV000433573, RCV000662266, RCV000013411, RCV001839445\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"KRAS proto-oncogene (KRAS), is a member of the small GTPase superfamily and a key regulator of PI3K and MAPK oncogenic pathways, playing a role in cell proliferation regulation. KRAS mutations including G12D, G12V, G12C, G12A, G12S, G12R, G13D, G13C, and Q61H are identified in a variety of cancers, including non-small cell lung cancer, pancreatic, endometrial, ovarian, biliary and colorecta. Germline KRAS mutations cause cardio-facio-cutaneous (CFC) syndrome and associate with Noonan syndrome (NS)\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_004985.5\",\n \"variant_id\": \"chr12:25398283-25398284:4f0e45ad7e8b66423281ee15776a01de\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT5737706\",\n \"brief_title\": \"Study of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" A Phase 1/2 study of MRTX1133 in solid tumors harboring a KRAS G12D mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Advanced Solid Tumor|Pancreatic Adenocarcinoma|Colo-rectal Cancer|Solid Tumor|Non-small Cell Lung Cancer\",\n \"interventions\": \"DRUG: MRTX1133\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"1133-001\",\n \"start_date\": \"March 2023\",\n \"primary_completion_date\": \"August 2026\",\n \"completion_date\": \"August 2026\",\n \"first_posted\": \"February 2023\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|START Midwest, Grand Rapids, Michigan, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|Sarah Cannon Research Institute at Florida Cancer Specialists, Orlando, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05737706\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5311709\",\n \"brief_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"official_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"brief_summary\": \" A single-arm, multicentre trial to investigate sotorasib in KRASG12C-mutated non-small cell\\r lung cancer stage III/IV not amenable for curative treatment including patients with\\r comorbidities, and to provide translational knowledge regarding mechanism of relapse and\\r differences in responses, including differences among patients with different co-occurring\\r mutations.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer, Lung|Lung Cancer|Cancer|NSCLC Stage IV|Mutation|NSCLC, Stage III|Lung Cancer Stage IV\",\n \"interventions\": \"DRUG: sotorasib\",\n \"collaborators\": \"Other: University Hospital of North Norway|Other: St. Olavs Hospital|Other: Rigshospitalet, Denmark|Other: Oslo University Hospital|Other: Aarhus University Hospital|Other: Haukeland University Hospital|Other: Odense University Hospital|Other: Karolinska University Hospital\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Vestre Viken Hospital Trust\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"SOLUCOM\",\n \"start_date\": \"May 2022\",\n \"primary_completion_date\": \"October 2024\",\n \"completion_date\": \"March 2025\",\n \"first_posted\": \"April 2022\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Vestre Viken Health Trust, Drammen, Viken, Norway\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05311709\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"Norway\"\n ]\n },\n {\n \"nct_number\": \"NCT6166836\",\n \"brief_title\": \"a Study to Evaluate the Safety and Efficacy of D-1553 Combined With IN10018 in KRAS G12C Mutant Solid Tumors\",\n \"official_title\": \"A Phase 1b/II, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of D-1553 Combined With IN10018 in Subjects With Locally Advanced or Metastatic Solid Tumors With KRAS G12C Mutation\",\n \"brief_summary\": \" This is a phase 1b/II, open-label study to evaluate the safety, tolerability,\\r pharmacokinetics and antitumor activities of D-1553 in combination with IN10018 in subjects\\r with locally advanced or metastatic solid tumor with KRAS G12C mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: IN10018（Ifebemtinib）|DRUG: D1553\",\n \"collaborators\": \"Industry: InventisBio Co., Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: InxMed (Shanghai) Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"D1553-106/IN10018-602\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"December 2023\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"First Affiliated Hospital of Bengbu Medical College, Bengbu, China|Renmin Hospital of Wuhan University, Wuhan, China|Fujian Cancer Hospital, Fuzhou, China|The first Affiliated Hospital of Zhengzhou University, Zhengzhou, China|Hunan Cancer Hospital, Changsha, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06166836\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5485974\",\n \"brief_title\": \"A Dose Escalation Study of HBI-2438 in Patients With Solid Tumors Harboring KRAS G12C Mutation\",\n \"official_title\": \"A Phase 1, Open Label, Dose Escalation of HBI-2438 in Patients With Advanced Malignant Solid Tumors Harboring KRAS G12C Mutation\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS G12C\\r mutation to determine the maximum tolerated dose and recommended Phase II dose of HBI-2438\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colon Cancer|Cancer of Pancreas|Lung Cancer|Non Small Cell Lung Cancer|Cancer|Colorectal Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: HBI-2438\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2438-101\",\n \"start_date\": \"August 2022\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"August 2025\",\n \"first_posted\": \"August 2022\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"The Oncology Institute of Hope and Innovation, Pasadena, California, United States|Alliance for Multispecialty Research, LLC, Kansas City, Missouri, United States|Michigan Center of Medical Research, Farmington Hills, Michigan, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Innovative Clinical Research Institute (ICRI), Whittier, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05485974\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT5887492\",\n \"brief_title\": \"Study of TNG260 and an Anti-PD Antibody in STK11 Mutated Solid Tumors\",\n \"official_title\": \"A Phase 1/2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of TNG260 as Single Agent and in Combination With an Anti-PD-1 Antibody In Patients With STK11 Mutated Advanced Solid Tumors\",\n \"brief_summary\": \" The goal of this interventional clinical trial is to learn about TNG260, a CoREST inhibitor,\\r in combination with pembrolizumab in patients with advanced solid tumors with a known STK11\\r mutation.\\r \\r The main question[s] it aims to answer are:\\r \\r - the recommended dose for Phase 2\\r \\r - to evaluate the safety and tolerability of the combination therapy\\r \\r - to determine the pharmacokinetics of TNG260\\r \\r - to evaluate the initial antineoplastic activity\\r \\r Participants will receive study treatment until they experience an undesirable side effect,\\r their disease progresses or until they withdraw consent.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumors, Adult|Carcinoma of Unknown Primary|Breast Cancer|Cervical Cancer|Endometrial Cancer|Pancreatic Cancer\",\n \"interventions\": \"DRUG: TNG260|DRUG: Pembrolizumab\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Tango Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"TNG260-C101\",\n \"start_date\": \"June 2023\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"June 2023\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"New York University Langone Health, New York, New York, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|SCRI at HealthOne, Denver, Colorado, United States|Sarah Cannon Tennessee Oncology, Nashville, Tennessee, United States|Florida Cancer Specialists, Sarasota, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05887492\",\n \"genes\": [\n \"KRAS\",\n \"STK11\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5382559\",\n \"brief_title\": \"A Study of ASP3082 in Adults With Previously Treated Solid Tumors\",\n \"official_title\": \"A Phase 1 Study of ASP3082 in Participants With Previously Treated Locally Advanced or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Many types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors. ASP3082 is a potential\\r new treatment for solid tumors in people who have the G12D mutation in their KRAS gene.\\r Before ASP3082 is available as a treatment, the researchers need to understand how it is\\r processed by and acts upon the body. This information will help find a suitable dose and to\\r check for potential medical problems from the treatment. People in this study will be adults\\r with locally advanced, unresectable or metastatic solid tumors with the G12D mutation in\\r their KRAS gene. Locally advanced means the cancer has spread to nearby tissue. Unresectable\\r means the cancer cannot be removed by surgery. Metastatic means the cancer has spread to\\r other parts of the body. They may have been previously treated with standard therapies. The\\r main aims of the study are: to check the safety of ASP3082 by itself and together with\\r cetuximab or chemotherapy, and how well it is tolerated, and to find a suitable dose of\\r ASP3082 by itself and together with cetuximab or chemotherapy. This is an open-label study.\\r This means that people in this study and clinic staff will know that they will receive\\r ASP3082. This study will be in 2 parts. In Part 1, different small groups of people will\\r receive lower to higher doses of ASP3082, by itself, or together with cetuximab. Any medical\\r problems will be recorded at each dose. This is done to find suitable doses of ASP3082, by\\r itself or together with cetuximab to use in Part 2 of the study. The first group will receive\\r the lowest dose of ASP3082. A medical expert panel will check the results from this group and\\r decide if the next group can receive a higher dose of ASP3082. The panel will do this for\\r each group until all groups have received ASP3082 (by itself or together with cetuximab) or\\r until suitable doses have been selected for Part 2. In Part 2, other different small groups\\r of people will receive ASP3082 by itself or together with cetuximab or chemotherapy, with the\\r most suitable doses worked out from Part 1. This will help find a more accurate dose of\\r ASP3082 to use in future studies. ASP3082 (cetuximab or chemotherapy if used), will be given\\r through a vein. This is called an infusion. Each treatment cycle is 21 or 28 days long.\\r People will continue treatment until: they have medical problems from the treatment they\\r can't tolerate; their cancer gets worse; they start other cancer treatment; or they ask to\\r stop treatment. At some visits, other checks will include a medical examination,\\r echocardiogram (ECHO) or multigated acquisition (MUGA) scan, blood and urine tests and vital\\r signs. Vital signs include temperature, pulse, breathing rate, and blood pressure. (Blood\\r oxygen levels will also be checked for people treated with ASP3082 together with cetuximab or\\r chemotherapy.) Tumor samples will be taken during certain visits during treatment and when\\r treatment has finished. People will visit the clinic on certain days during their treatment,\\r with extra visits during the first 2 cycles of treatment. The study doctors will check for\\r any medical problems from ASP3082 by itself or together with cetuximab or chemotherapy. At\\r some visits, other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, blood and urine tests and vital signs. Vital signs\\r include temperature, pulse, breathing rate, and blood pressure. (Blood oxygen levels will\\r also be checked for people treated with ASP3082 together with cetuximab or chemotherapy.)\\r Tumor samples will be taken during certain visits during treatment and when treatment has\\r finished. People will visit the clinic within 7 days after stopping treatment. The study\\r doctors will check for any medical problems from ASP3082 by itself or together with cetuximab\\r or chemotherapy. Other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, urine and blood tests and vital signs. After this, people\\r will continue to visit the clinic every 9 weeks to check the condition of their cancer. They\\r will do this until 45 weeks after treatment stopped, or if their cancer is worse, they start\\r other cancer treatment, or they ask to stop treatment. Also, people may visit the clinic at\\r 30 days and 90 days after stopping treatment. At the 30-day visit, the study doctors will\\r check for any medical problems from ASP3082 by itself or together with cetuximab or\\r chemotherapy. People will have their vital signs checked and have some blood tests. At the\\r 90-day visit, the study doctors will check for any medical problems from ASP3082 by itself or\\r together with cetuximab or chemotherapy and people will have their vital signs checked.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: Cetuximab|DRUG: Chemotherapy 2|DRUG: Chemotherapy 1|DRUG: ASP3082\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"jRCT2031220738|3082-CL-0101\",\n \"start_date\": \"June 2022\",\n \"primary_completion_date\": \"October 2026\",\n \"completion_date\": \"October 2026\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Florida Cancer Specialists & Research Institute Sarasota, Sarasota, Florida, United States|Columbia University - Herbert Irving Comprehensive Cancer Center, New York, New York, United States|University of Kansas Medical Center, Westwood, Kansas, United States|Shizuoka Cancer Center, Sunto-gun, Shizuoka, Japan\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05382559\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Japan\",\n \"France\"\n ]\n },\n {\n \"nct_number\": \"NCT6237413\",\n \"brief_title\": \"A Study of ZG2001 in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"official_title\": \"A Phase I/II Dose Escalation Study to Evaluating the Tolerability, Safety, Efficacy and Pharmacokinetics of ZG2001 Tosilate Tablets in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"brief_summary\": \" This study will evaluate the tolerability, safety, effects, and pharmacokinetics of ZG2001 in\\r Participants with advanced solid tumors that have a KRAS mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: ZG2001 Tosilate Tablets\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Suzhou Zelgen Biopharmaceuticals Co.,Ltd\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"ZG2001-001\",\n \"start_date\": \"August 2023\",\n \"primary_completion_date\": \"February 2026\",\n \"completion_date\": \"February 2026\",\n \"first_posted\": \"February 2024\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Chinese PLA General Hospital, Beijing, Beijing, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06237413\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT6105021\",\n \"brief_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"official_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"brief_summary\": \" This study is open to adult patients with solid tumors who have a KRAS G12V mutation. This\\r mutation is often found in non-small cell lung cancer (NSCLC), colorectal cancer (CRC),\\r pancreatic ductal adenocarcinoma (PDAC) and other cancers. The study is for patients whose\\r cancer has spread through the body and for whom previous treatments were not successful or\\r treatment does not exist. Patients must also be positive for HLA-A*11:01. The purpose of this\\r study is to find the best dose of AFNT-211 that is safe and can shrink tumors in patients.\\r AFNT-211 is an investigational therapy and this is the first time that AFNT-211 is being\\r administered to patients. AFNT-211 is an autologous T cell product which means that it is\\r made from a patient's own T cells. These cells are engineered and grown to recognize the KRAS\\r G12V protein on the cell surface of cancer cells. AFNT-211 is infused into patients after a\\r short course of lymphodepleting chemotherapy. Patients will frequently visit the study site.\\r The doctors there will regularly check the size of the cancer and the patient's health. They\\r will also take note of any unwanted effects. Patients may continue in this study for as long\\r as they benefit from the treatment.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non-Small Cell Lung Cancer|Colorectal Cancer|Solid Tumor|Pancreatic Ductal Adenocarcinoma|KRAS G12V\",\n \"interventions\": \"DRUG: AFNT-211\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Affini-T Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"AFNT211-22-101\",\n \"start_date\": \"March 2024\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2029\",\n \"first_posted\": \"October 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Providence Cancer Institute Franz Clinic, Portland, Oregon, United States|Memorial Sloan Kettering Cancer Center, New York, New York, United States|University of California Los Angeles Department of Medicine, Los Angeles, California, United States|Sarah Cannon Research Institute, Nashville, Tennessee, United States|Laura & Isaac Perlmutter Cancer Center at NYU Langone Health, New York, New York, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06105021\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4720976\",\n \"brief_title\": \"JAB-3312 Based Combination Therapy in Adult Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase 1/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Evidence of Antitumor Activity of JAB-3312 Based Combination Therapies in Adult Patients With Advanced Solid Tumors\",\n \"brief_summary\": \" To evaluate the safety and tolerability of JAB-3312 administered in investigational regimens\\r in adult participants with advanced solid tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"NSCLC|Solid Tumor\",\n \"interventions\": \"DRUG: JAB-3312|DRUG: Sotorasib|DRUG: Osimertinib|DRUG: Pembrolizumab|DRUG: Binimetinib\",\n \"collaborators\": \"Industry: AbbVie\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Jacobio Pharmaceuticals Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"JAB-3312-1003\",\n \"start_date\": \"March 2021\",\n \"primary_completion_date\": \"January 2024\",\n \"completion_date\": \"February 2024\",\n \"first_posted\": \"January 2021\",\n \"last_update_posted\": \"May 2023\",\n \"locations\": \"Research Site, Los Angeles, California, United States|Research Site, Houston, Texas, United States|Research Site, Orange City, Florida, United States|Research Site, Jacksonville, Florida, United States|Research Site, Oklahoma City, Oklahoma, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04720976\",\n \"genes\": [\n \"KRAS\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT6403735\",\n \"brief_title\": \"A Phase I Clinical Study of QLC1101 in Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase I Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of QLC1101 Monotherapy in the Treatment of Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" QLC1101 is a selective reversible inhibitor of KRAS G12D, with the dosage form of capsules\\r and administration route of oral administration. In the first-in-humans (FIH) study, the\\r sponsor will explore the safety, tolerability, pharmacokinetics (PK), and preliminary\\r efficacy of QLC1101 in subjects with advanced solid tumors harboring a KRAS G12D mutation.\\r The FIH study includes dose escalation, PK expansion, and efficacy expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colorectal Cancer|Pancreatic Cancer|Non-small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: QLC1101\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Qilu Pharmaceutical Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"QLC1101-101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"May 2026\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"May 2024\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Harbin Medical university cancer hospital, Ha'erbin, Heilongjiang, China|Yunnan Cancer Hospital, Kunming, Yunnan, China|Shanghai east hospital, Shanghai, Shanghai, China|Jiangxi Cancer Hospital, Nanchang, Jiangxi, China|The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, Guangdong, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06403735\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5163028\",\n \"brief_title\": \"A Dose Escalation Study of SHP2 Inhibitor in Patients With Solid Tumors Harboring KRAS of EGFR Mutations\",\n \"official_title\": \"A Phase 1, Open-Label, Dose Escalation of HBI-2376 in Patients With Advanced Malignant Solid Tumors Harboring KRAS or EGFR Mutations\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS or EGFR\\r mutations to determine the maximum tolerated dose and recommended Phase II dose of HBI-2376\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer of Pancreas|Non Small Cell Lung Cancer|Cancer|Cancer of Colon|Colorectal Cancer|Solid Tumor|Pancreatic Cancer\",\n \"interventions\": \"DRUG: HBI-2376\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2376-101\",\n \"start_date\": \"December 2021\",\n \"primary_completion_date\": \"December 2024\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"December 2021\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"Providence Medical Foundation, Fullerton, California, United States|Orlando Health, Inc., Orlando, Florida, United States|Virginia Cancer Specialists, Fairfax, Virginia, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Texas Oncology - Tyler, Tyler, Texas, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05163028\",\n \"genes\": [\n \"EGFR\",\n \"PTPN11\",\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6218914\",\n \"brief_title\": \"A Study of NT-112 in HLA-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/ or Metastatic Solid Tumors Positive for the KRAS G12D Mutation\",\n \"official_title\": \"An Open-label, Phase 1, Multicenter Study to Evaluate the Safety and Preliminary Anti-tumor Activity of NT-112 in Human Leukocyte Antigen-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/or Metastatic Solid Tumors That Are Positive for the KRAS G12D Mutation\",\n \"brief_summary\": \" Phase I Study of NT-112, an autologous T-cell therapy product genetically engineered to\\r express an HLA-C*08:02-restricted T cell receptor (TCR), targeting KRAS G12D mutant solid\\r tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"KRAS G12D|Colorectal Carcinoma|Non-small Cell Lung Cancer|Endometrial Cancer|Solid Tumor, Adult|Pancreatic Ductal Adenocarcinoma\",\n \"interventions\": \"BIOLOGICAL: NT-112: Autologous, engineered T Cells targeting KRAS G12D\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Neogene Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NT-112-301\",\n \"start_date\": \"February 2024\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"January 2040\",\n \"first_posted\": \"January 2024\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Sarah Cannon Research Institute, Nashville, Tennessee, United States|NYU Langone Health, New York, New York, United States|Hoag Hospital Newport Beach, Newport Beach, California, United States|City of Hope, Duarte, California, United States|UCLA Health Jonsson Comprehensive Cancer Center, Los Angeles, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06218914\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5375084\",\n \"brief_title\": \"SHP2 Inhibitor BBP-398 in Combination With Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"official_title\": \"A Phase 1 Study of the SHP2 Inhibitor BBP-398 (Formerly Known as IACS-15509) in Combination With the Programmed Death Receptor-1 Blocking Antibody Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"brief_summary\": \" This is a Phase 1 study of BBP-398, a SHP2 inhibitor, in combination with nivolumab, a PD-1\\r antibody, in patients with NSCLC with a KRAS mutation. The study involves 2 parts: Phase 1a\\r Dose Escalation and Phase 1b Dose Expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: BBP-398 with nivolumab\",\n \"collaborators\": \"Industry: Bristol-Myers Squibb\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Navire Pharma Inc., a BridgeBio company\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NAV-1004\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"July 2024\",\n \"completion_date\": \"January 2025\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"February 2024\",\n \"locations\": \"Cleveland Clinic, Cleveland, Ohio, United States|Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, United States|NEXT Oncology, Fairfax, Virginia, United States|Providence Medical Foundation, Santa Rosa, California, United States|Medical University of South Carolina (MUSC) - Hollings Cancer Center, Charleston, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05375084\",\n \"genes\": [\n \"PTPN11\",\n \"KRAS\",\n \"PDCD1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5661201\",\n \"brief_title\": \"NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"official_title\": \"Phase I Study of NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"brief_summary\": \" The goal of this clinical trial is to learn about the safety of NEROFE and doxorubicin and\\r how well it works in patients with advanced/unresectable or metastatic solid KRAS-mutated and\\r ST-positive solid tumors. The main question it aims to answer is to find the recommended dose\\r and scheduled for the combination of NEROFE and doxorubicin. Participants will receive weekly\\r doses of NEROFE and doxorubicin.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: NEROFE|DRUG: Doxorubicin\",\n \"collaborators\": \"Industry: Immune System Key Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Other: Georgetown University\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"STUDY00005711\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"January 2026\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"December 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Georgetown Lombardi Comprehensive Cancer Center, Washington, District of Columbia, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05661201\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5578092\",\n \"brief_title\": \"A Phase 1/2 Study of MRTX0902 in Solid Tumors With Mutations in the KRAS MAPK Pathway\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of the SOS1 Inhibitor MRTX0902 in Patients With Advanced Solid Tumors Harboring Mutations in the KRAS MAPK Pathway\",\n \"brief_summary\": \" This is a Phase 1/2, open-label, multicenter, study evaluating the safety, tolerability, PK,\\r PD, and anti-tumor activity of MRTX0902 alone and in combination with MRTX849 (adagrasib) in\\r patients with advanced solid tumor malignancy harboring mutations in the KRAS-MAPK pathways.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor|Advanced Solid Tumor|Colo-rectal Cancer\",\n \"interventions\": \"DRUG: MRTX0902|DRUG: MRTX849\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"0902-001\",\n \"start_date\": \"November 2022\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"July 2026\",\n \"first_posted\": \"October 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Seattle Cancer Care Alliance, Seattle, Washington, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|Denver Drug Development Unit - HealthONE, Denver, Colorado, United States|Pan America center for Oncology Trials LLC, Rio Piedras, Puerto Rico\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05578092\",\n \"genes\": [\n \"KRAS\",\n \"SOS1\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6364696\",\n \"brief_title\": \"A Study to Find a Suitable Dose of ASP4396 in Adults With Solid Tumors\",\n \"official_title\": \"An Open-label Phase 1 Study of ASP4396 in Participants With Locally Advanced (Unresectable) or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Some types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors.\\r \\r ASP4396 is being developed as a potential new treatment for solid tumors in people who have\\r the G12D mutation in their KRAS gene. ASP4396 is not currently available as a treatment for\\r the public. In this study, researchers will learn how ASP4396 is processed by and acts upon\\r the body. This information will help find a suitable dose and to check for potential medical\\r problems from ASP4396.\\r \\r In this study, ASP4396 is being given to humans for the first time.\\r \\r People in this study will be adults with locally advanced (unresectable), or metastatic solid\\r tumors with the G12D mutation in their KRAS gene. Locally advanced means the cancer has\\r spread to nearby tissue. Unresectable means the cancer cannot be removed by surgery.\\r Metastatic means the cancer has spread to other parts of the body. They may have been\\r previously treated with standard therapies or refused to receive those treatments.\\r \\r The main aims of the study are to check the safety of ASP4396, how well people cope with\\r medical problems during the study (how well it is tolerated), and to find a suitable dose of\\r ASP4396.\\r \\r This is an open-label study. This means that people in this study and clinic staff will know\\r that they will receive ASP4396.\\r \\r This study will be in 2 parts.\\r \\r Part 1 is called Dose Escalation. Different small groups of people will receive lower to\\r higher doses of ASP4396. For each dose, all medical problems will be recorded. The first\\r group will receive the lowest dose of ASP4396. A medical expert panel will check the results\\r and decide if the next group can receive a higher dose of ASP4396. The panel will do this\\r until all groups have taken ASP4396 or until suitable doses have been selected for Part 2.\\r \\r Part 2 is called Dose Expansion. Other different small groups of people will receive ASP4396\\r with the most suitable doses worked out from Part 1. This will help find a more accurate dose\\r of ASP4396 to use in future studies.\\r \\r In both parts of the study, ASP4396 will be given through a vein. This is called an infusion.\\r Each treatment cycle is 21 days long. People will continue treatment until: they have medical\\r problems from the treatment they can't cope with (can't tolerate); their cancer gets worse;\\r they start other cancer treatment; or they ask to stop treatment.\\r \\r People will visit the clinic on certain days during their treatment, with extra visits during\\r the first 2 cycles of treatment. The study doctors will check for any medical problems from\\r ASP4396. Also, people in the study will have a health check including blood tests. On some\\r visits they will also have scans to check for any changes in their cancer. Tumor samples will\\r be taken at certain visits during treatment with the option of a tumor sample being taken\\r after treatment has finished.\\r \\r People will visit the clinic about 7 days after they stop treatment. They will be asked about\\r any medical problems and will have a health check including blood tests.\\r \\r After this, people will visit the clinic for a health check several times. The number of\\r visits and checks done at each visit will depend on the health of each person and whether\\r they completed their treatment or not.\\r \\r After treatment has finished, people in the study will be followed up for up to 45 weeks.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: ASP4396\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"4396-CL-0101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"April 2027\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"April 2024\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"NEXT Oncology Dallas, Irving, Texas, United States|NEXT Oncology Virginia, Fairfax, Virginia, United States|START Midwest, Grand Rapids, Michigan, United States|START Mountain Region, West Valley City, Utah, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06364696\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4249843\",\n \"brief_title\": \"Study of Safety, Pharmacokinetics, and Antitumor Activity of BGB-3245 in Participants With Advanced or Refractory Tumors\",\n \"official_title\": \"A First-in-Human, Phase 1a/1b, Open Label, Dose-Escalation and Expansion Study to Investigate the Safety, Pharmacokinetics, and Antitumor Activity of the RAF Dimer Inhibitor BGB-3245 in Patients With Advanced or Refractory Tumors\",\n \"brief_summary\": \" The purpose of this study is to evaluate the safety, tolerability, and antitumor activity of\\r BGB-3245 in participants with advanced or refractory solid tumors\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"B-Raf Mutation-Related Tumors|Solid Tumor\",\n \"interventions\": \"DRUG: BGB-3245\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: MapKure, LLC\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BGB-3245-AU-001\",\n \"start_date\": \"February 2020\",\n \"primary_completion_date\": \"August 2024\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"January 2020\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|One Clinical Research, Nedlands, Perth, Australia|MD Anderson, Houston, Texas, United States|The Kinghorn Cancer Centre, St Vincent Hospital Sydney, Sydney, New South Wales, Australia\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04249843\",\n \"genes\": [\n \"KRAS\",\n \"NRAS\",\n \"BRAF\"\n ],\n \"countries\": [\n \"United States\",\n \"Australia\"\n ]\n },\n {\n \"nct_number\": \"NCT5786924\",\n \"brief_title\": \"A Study of BDTX-4933 in Patients With KRAS, BRAF and Select RAS/MAPK Mutation-Positive Cancers\",\n \"official_title\": \"A Phase 1, Open-label Study of Oral BDTX-4933 in Patients With KRAS, BRAF and Other Select RAS/MAPK Mutation Positive Neoplasms\",\n \"brief_summary\": \" BDTX-4933-101 is a first-in-human, open-label, Phase 1 dose escalation and an expansion\\r cohort study designed to evaluate the safety and tolerability, maximum tolerated dose (MTD)\\r and the preliminary recommended Phase 2 dose (RP2D), and antitumor activity of BDTX-4933. The\\r study population for the Dose Escalation part of the study comprises adults with recurrent\\r advanced/metastatic non-small cell lung cancer (NSCLC) harboring KRAS non-G12C mutations or\\r BRAF mutations, advanced/metastatic melanoma harboring BRAF or NRAS mutations, histiocytic\\r neoplasms harboring BRAF or NRAS mutations, and other solid tumors harboring BRAF mutations.\\r The study population for the Dose Expansion part of the study comprises adults with recurrent\\r advanced/metastatic NSCLC harboring KRAS non-G12C mutations. All patients will\\r self-administer BDTX-4933 orally in 28-day cycles until disease progression, toxicity,\\r withdrawal of consent, or termination of the study.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Thyroid Carcinoma|Melanoma (Skin)|Histiocytic Neoplasm|BRAF V600E|BRAF Gene Mutation|Histiocytosis|KRAS Mutation-Related Tumors|KRAS G12D|Metastatic Lung Cancer|Recurrent NSCLC|Recurrent Lung Cancer|Metastatic Lung Non-Small Cell Carcinoma|Melanoma|Colorectal Carcinoma|Solid Carcinoma|NSCLC|NRAS Gene Mutation|Recurrent Lung Non-Small Cell Carcinoma|Recurrent Melanoma|Brain Metastases|KRAS G13C|Colorectal Cancer|Solid Tumor|Thyroid Cancer|BRAF|Metastatic Melanoma|Non-small Cell Lung Cancer|Recurrent Histiocytic and Dendritic Cell Neoplasm|BRAF V600 Mutation|KRAS G12V|BRAF Mutation-Related Tumors\",\n \"interventions\": \"DRUG: BDTX-4933\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Black Diamond Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BDTX-4933-101\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"March 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Dana-Farber Cancer Institute, Boston, Massachusetts, United States|NEXT Virginia, Fairfax, Virginia, United States|University of Colorado - Aurora Cancer Center, Aurora, Colorado, United States|Banner Health- MD Anderson Cancer Center, Gilbert, Arizona, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05786924\",\n \"genes\": [\n \"KRAS\",\n \"BRAF\",\n \"NRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"resistant_drugs\": [\n \"Panitumumab\",\n \"Tucatinib\",\n \"Fruquintinib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 25398284,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"resistant\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 5,\n \"clinvar_id\": [\n \"12582\"\n ],\n \"gnomad_aggregated\": 0.000004010781140095787,\n \"alt\": \"T\",\n \"ref\": \"C\",\n \"internal_frequency\": 97,\n \"variant_quality\": 9731.01,\n \"ref_depth\": 1137,\n \"alt_depth\": 242,\n \"cosmic_ids\": [\n \"COSV55865099;COSV55497369;COSM25877\"\n ],\n \"dbsnp\": \"rs121913529\",\n \"somatic_interpretation_text\": \"KRAS G12D mutation falls within a hotspot of the KRAS gene, and results in a loss of GTPase activity, which in turn leads to a constitutively active form of KRAS . The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1989,\n \"gene_coverage_data\": {\n \"percent_covered\": \"100.00\",\n \"average_coverage\": \"3413.22\",\n \"median_coverage\": 2890,\n \"max_coverage\": 6258,\n \"min_coverage\": 710\n },\n \"hgvs_p_single_letter\": \"p.G12D\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 2175,\n \"same_ref_alt_amino_acid_count\": 757\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\",\n \"user_annotations\": [\n {\n \"name\": \"Oncomine Hotspot\",\n \"value\": \"\"\n }\n ]\n },\n {\n \"id\": \"chr12:25398281-25398282:93403b8bff10d6150207602eb248c457\",\n \"chr\": \"chr12\",\n \"gene\": \"KRAS\",\n \"vaf\": \"30.67\",\n \"drugs\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Fruquintinib\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"0.0\",\n \"hgvs_c\": \"c.37G>T\",\n \"hgvs_p\": \"p.Gly13Cys\",\n \"coverage\": 1989,\n \"position\": 25398282,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"p.Gly13Cys, a non synonymous variant in the KRAS, an oncogene.The variant resides within the Ras, Arf, Roc, MMR_HSR1 domains.The variant was reported in COSMIC (COSM4169642,COSV55538079,COSV55497378) and ClinVar (45123).The variant was classified as a Tier 1 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Gly13Cys | c.37G>T | NM_004985.5 | CHR12: 25398282 None | VAF: 30.67% | Coverage: 1989 | COSMIC ID: COSM4169642;COSV55538079;COSV55497378 | rs121913535 | ClinVar ID: RCV000038268, RCV000144972, RCV000681039, RCV003335071\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"KRAS proto-oncogene (KRAS), is a member of the small GTPase superfamily and a key regulator of PI3K and MAPK oncogenic pathways, playing a role in cell proliferation regulation. KRAS mutations including G12D, G12V, G12C, G12A, G12S, G12R, G13D, G13C, and Q61H are identified in a variety of cancers, including non-small cell lung cancer, pancreatic, endometrial, ovarian, biliary and colorecta. Germline KRAS mutations cause cardio-facio-cutaneous (CFC) syndrome and associate with Noonan syndrome (NS)\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_004985.5\",\n \"variant_id\": \"chr12:25398281-25398282:93403b8bff10d6150207602eb248c457\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT5737706\",\n \"brief_title\": \"Study of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" A Phase 1/2 study of MRTX1133 in solid tumors harboring a KRAS G12D mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Advanced Solid Tumor|Pancreatic Adenocarcinoma|Colo-rectal Cancer|Solid Tumor|Non-small Cell Lung Cancer\",\n \"interventions\": \"DRUG: MRTX1133\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"1133-001\",\n \"start_date\": \"March 2023\",\n \"primary_completion_date\": \"August 2026\",\n \"completion_date\": \"August 2026\",\n \"first_posted\": \"February 2023\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|START Midwest, Grand Rapids, Michigan, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|Sarah Cannon Research Institute at Florida Cancer Specialists, Orlando, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05737706\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5311709\",\n \"brief_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"official_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"brief_summary\": \" A single-arm, multicentre trial to investigate sotorasib in KRASG12C-mutated non-small cell\\r lung cancer stage III/IV not amenable for curative treatment including patients with\\r comorbidities, and to provide translational knowledge regarding mechanism of relapse and\\r differences in responses, including differences among patients with different co-occurring\\r mutations.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer, Lung|Lung Cancer|Cancer|NSCLC Stage IV|Mutation|NSCLC, Stage III|Lung Cancer Stage IV\",\n \"interventions\": \"DRUG: sotorasib\",\n \"collaborators\": \"Other: University Hospital of North Norway|Other: St. Olavs Hospital|Other: Rigshospitalet, Denmark|Other: Oslo University Hospital|Other: Aarhus University Hospital|Other: Haukeland University Hospital|Other: Odense University Hospital|Other: Karolinska University Hospital\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Vestre Viken Hospital Trust\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"SOLUCOM\",\n \"start_date\": \"May 2022\",\n \"primary_completion_date\": \"October 2024\",\n \"completion_date\": \"March 2025\",\n \"first_posted\": \"April 2022\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Vestre Viken Health Trust, Drammen, Viken, Norway\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05311709\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"Norway\"\n ]\n },\n {\n \"nct_number\": \"NCT6166836\",\n \"brief_title\": \"a Study to Evaluate the Safety and Efficacy of D-1553 Combined With IN10018 in KRAS G12C Mutant Solid Tumors\",\n \"official_title\": \"A Phase 1b/II, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of D-1553 Combined With IN10018 in Subjects With Locally Advanced or Metastatic Solid Tumors With KRAS G12C Mutation\",\n \"brief_summary\": \" This is a phase 1b/II, open-label study to evaluate the safety, tolerability,\\r pharmacokinetics and antitumor activities of D-1553 in combination with IN10018 in subjects\\r with locally advanced or metastatic solid tumor with KRAS G12C mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: IN10018（Ifebemtinib）|DRUG: D1553\",\n \"collaborators\": \"Industry: InventisBio Co., Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: InxMed (Shanghai) Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"D1553-106/IN10018-602\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"December 2023\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"First Affiliated Hospital of Bengbu Medical College, Bengbu, China|Renmin Hospital of Wuhan University, Wuhan, China|Fujian Cancer Hospital, Fuzhou, China|The first Affiliated Hospital of Zhengzhou University, Zhengzhou, China|Hunan Cancer Hospital, Changsha, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06166836\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5485974\",\n \"brief_title\": \"A Dose Escalation Study of HBI-2438 in Patients With Solid Tumors Harboring KRAS G12C Mutation\",\n \"official_title\": \"A Phase 1, Open Label, Dose Escalation of HBI-2438 in Patients With Advanced Malignant Solid Tumors Harboring KRAS G12C Mutation\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS G12C\\r mutation to determine the maximum tolerated dose and recommended Phase II dose of HBI-2438\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colon Cancer|Cancer of Pancreas|Lung Cancer|Non Small Cell Lung Cancer|Cancer|Colorectal Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: HBI-2438\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2438-101\",\n \"start_date\": \"August 2022\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"August 2025\",\n \"first_posted\": \"August 2022\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"The Oncology Institute of Hope and Innovation, Pasadena, California, United States|Alliance for Multispecialty Research, LLC, Kansas City, Missouri, United States|Michigan Center of Medical Research, Farmington Hills, Michigan, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Innovative Clinical Research Institute (ICRI), Whittier, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05485974\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT5887492\",\n \"brief_title\": \"Study of TNG260 and an Anti-PD Antibody in STK11 Mutated Solid Tumors\",\n \"official_title\": \"A Phase 1/2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of TNG260 as Single Agent and in Combination With an Anti-PD-1 Antibody In Patients With STK11 Mutated Advanced Solid Tumors\",\n \"brief_summary\": \" The goal of this interventional clinical trial is to learn about TNG260, a CoREST inhibitor,\\r in combination with pembrolizumab in patients with advanced solid tumors with a known STK11\\r mutation.\\r \\r The main question[s] it aims to answer are:\\r \\r - the recommended dose for Phase 2\\r \\r - to evaluate the safety and tolerability of the combination therapy\\r \\r - to determine the pharmacokinetics of TNG260\\r \\r - to evaluate the initial antineoplastic activity\\r \\r Participants will receive study treatment until they experience an undesirable side effect,\\r their disease progresses or until they withdraw consent.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumors, Adult|Carcinoma of Unknown Primary|Breast Cancer|Cervical Cancer|Endometrial Cancer|Pancreatic Cancer\",\n \"interventions\": \"DRUG: TNG260|DRUG: Pembrolizumab\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Tango Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"TNG260-C101\",\n \"start_date\": \"June 2023\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"June 2023\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"New York University Langone Health, New York, New York, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|SCRI at HealthOne, Denver, Colorado, United States|Sarah Cannon Tennessee Oncology, Nashville, Tennessee, United States|Florida Cancer Specialists, Sarasota, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05887492\",\n \"genes\": [\n \"KRAS\",\n \"STK11\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5382559\",\n \"brief_title\": \"A Study of ASP3082 in Adults With Previously Treated Solid Tumors\",\n \"official_title\": \"A Phase 1 Study of ASP3082 in Participants With Previously Treated Locally Advanced or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Many types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors. ASP3082 is a potential\\r new treatment for solid tumors in people who have the G12D mutation in their KRAS gene.\\r Before ASP3082 is available as a treatment, the researchers need to understand how it is\\r processed by and acts upon the body. This information will help find a suitable dose and to\\r check for potential medical problems from the treatment. People in this study will be adults\\r with locally advanced, unresectable or metastatic solid tumors with the G12D mutation in\\r their KRAS gene. Locally advanced means the cancer has spread to nearby tissue. Unresectable\\r means the cancer cannot be removed by surgery. Metastatic means the cancer has spread to\\r other parts of the body. They may have been previously treated with standard therapies. The\\r main aims of the study are: to check the safety of ASP3082 by itself and together with\\r cetuximab or chemotherapy, and how well it is tolerated, and to find a suitable dose of\\r ASP3082 by itself and together with cetuximab or chemotherapy. This is an open-label study.\\r This means that people in this study and clinic staff will know that they will receive\\r ASP3082. This study will be in 2 parts. In Part 1, different small groups of people will\\r receive lower to higher doses of ASP3082, by itself, or together with cetuximab. Any medical\\r problems will be recorded at each dose. This is done to find suitable doses of ASP3082, by\\r itself or together with cetuximab to use in Part 2 of the study. The first group will receive\\r the lowest dose of ASP3082. A medical expert panel will check the results from this group and\\r decide if the next group can receive a higher dose of ASP3082. The panel will do this for\\r each group until all groups have received ASP3082 (by itself or together with cetuximab) or\\r until suitable doses have been selected for Part 2. In Part 2, other different small groups\\r of people will receive ASP3082 by itself or together with cetuximab or chemotherapy, with the\\r most suitable doses worked out from Part 1. This will help find a more accurate dose of\\r ASP3082 to use in future studies. ASP3082 (cetuximab or chemotherapy if used), will be given\\r through a vein. This is called an infusion. Each treatment cycle is 21 or 28 days long.\\r People will continue treatment until: they have medical problems from the treatment they\\r can't tolerate; their cancer gets worse; they start other cancer treatment; or they ask to\\r stop treatment. At some visits, other checks will include a medical examination,\\r echocardiogram (ECHO) or multigated acquisition (MUGA) scan, blood and urine tests and vital\\r signs. Vital signs include temperature, pulse, breathing rate, and blood pressure. (Blood\\r oxygen levels will also be checked for people treated with ASP3082 together with cetuximab or\\r chemotherapy.) Tumor samples will be taken during certain visits during treatment and when\\r treatment has finished. People will visit the clinic on certain days during their treatment,\\r with extra visits during the first 2 cycles of treatment. The study doctors will check for\\r any medical problems from ASP3082 by itself or together with cetuximab or chemotherapy. At\\r some visits, other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, blood and urine tests and vital signs. Vital signs\\r include temperature, pulse, breathing rate, and blood pressure. (Blood oxygen levels will\\r also be checked for people treated with ASP3082 together with cetuximab or chemotherapy.)\\r Tumor samples will be taken during certain visits during treatment and when treatment has\\r finished. People will visit the clinic within 7 days after stopping treatment. The study\\r doctors will check for any medical problems from ASP3082 by itself or together with cetuximab\\r or chemotherapy. Other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, urine and blood tests and vital signs. After this, people\\r will continue to visit the clinic every 9 weeks to check the condition of their cancer. They\\r will do this until 45 weeks after treatment stopped, or if their cancer is worse, they start\\r other cancer treatment, or they ask to stop treatment. Also, people may visit the clinic at\\r 30 days and 90 days after stopping treatment. At the 30-day visit, the study doctors will\\r check for any medical problems from ASP3082 by itself or together with cetuximab or\\r chemotherapy. People will have their vital signs checked and have some blood tests. At the\\r 90-day visit, the study doctors will check for any medical problems from ASP3082 by itself or\\r together with cetuximab or chemotherapy and people will have their vital signs checked.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: Cetuximab|DRUG: Chemotherapy 2|DRUG: Chemotherapy 1|DRUG: ASP3082\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"jRCT2031220738|3082-CL-0101\",\n \"start_date\": \"June 2022\",\n \"primary_completion_date\": \"October 2026\",\n \"completion_date\": \"October 2026\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Florida Cancer Specialists & Research Institute Sarasota, Sarasota, Florida, United States|Columbia University - Herbert Irving Comprehensive Cancer Center, New York, New York, United States|University of Kansas Medical Center, Westwood, Kansas, United States|Shizuoka Cancer Center, Sunto-gun, Shizuoka, Japan\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05382559\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Japan\",\n \"France\"\n ]\n },\n {\n \"nct_number\": \"NCT6237413\",\n \"brief_title\": \"A Study of ZG2001 in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"official_title\": \"A Phase I/II Dose Escalation Study to Evaluating the Tolerability, Safety, Efficacy and Pharmacokinetics of ZG2001 Tosilate Tablets in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"brief_summary\": \" This study will evaluate the tolerability, safety, effects, and pharmacokinetics of ZG2001 in\\r Participants with advanced solid tumors that have a KRAS mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: ZG2001 Tosilate Tablets\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Suzhou Zelgen Biopharmaceuticals Co.,Ltd\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"ZG2001-001\",\n \"start_date\": \"August 2023\",\n \"primary_completion_date\": \"February 2026\",\n \"completion_date\": \"February 2026\",\n \"first_posted\": \"February 2024\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Chinese PLA General Hospital, Beijing, Beijing, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06237413\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT6105021\",\n \"brief_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"official_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"brief_summary\": \" This study is open to adult patients with solid tumors who have a KRAS G12V mutation. This\\r mutation is often found in non-small cell lung cancer (NSCLC), colorectal cancer (CRC),\\r pancreatic ductal adenocarcinoma (PDAC) and other cancers. The study is for patients whose\\r cancer has spread through the body and for whom previous treatments were not successful or\\r treatment does not exist. Patients must also be positive for HLA-A*11:01. The purpose of this\\r study is to find the best dose of AFNT-211 that is safe and can shrink tumors in patients.\\r AFNT-211 is an investigational therapy and this is the first time that AFNT-211 is being\\r administered to patients. AFNT-211 is an autologous T cell product which means that it is\\r made from a patient's own T cells. These cells are engineered and grown to recognize the KRAS\\r G12V protein on the cell surface of cancer cells. AFNT-211 is infused into patients after a\\r short course of lymphodepleting chemotherapy. Patients will frequently visit the study site.\\r The doctors there will regularly check the size of the cancer and the patient's health. They\\r will also take note of any unwanted effects. Patients may continue in this study for as long\\r as they benefit from the treatment.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non-Small Cell Lung Cancer|Colorectal Cancer|Solid Tumor|Pancreatic Ductal Adenocarcinoma|KRAS G12V\",\n \"interventions\": \"DRUG: AFNT-211\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Affini-T Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"AFNT211-22-101\",\n \"start_date\": \"March 2024\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2029\",\n \"first_posted\": \"October 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Providence Cancer Institute Franz Clinic, Portland, Oregon, United States|Memorial Sloan Kettering Cancer Center, New York, New York, United States|University of California Los Angeles Department of Medicine, Los Angeles, California, United States|Sarah Cannon Research Institute, Nashville, Tennessee, United States|Laura & Isaac Perlmutter Cancer Center at NYU Langone Health, New York, New York, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06105021\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4720976\",\n \"brief_title\": \"JAB-3312 Based Combination Therapy in Adult Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase 1/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Evidence of Antitumor Activity of JAB-3312 Based Combination Therapies in Adult Patients With Advanced Solid Tumors\",\n \"brief_summary\": \" To evaluate the safety and tolerability of JAB-3312 administered in investigational regimens\\r in adult participants with advanced solid tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"NSCLC|Solid Tumor\",\n \"interventions\": \"DRUG: JAB-3312|DRUG: Sotorasib|DRUG: Osimertinib|DRUG: Pembrolizumab|DRUG: Binimetinib\",\n \"collaborators\": \"Industry: AbbVie\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Jacobio Pharmaceuticals Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"JAB-3312-1003\",\n \"start_date\": \"March 2021\",\n \"primary_completion_date\": \"January 2024\",\n \"completion_date\": \"February 2024\",\n \"first_posted\": \"January 2021\",\n \"last_update_posted\": \"May 2023\",\n \"locations\": \"Research Site, Los Angeles, California, United States|Research Site, Houston, Texas, United States|Research Site, Orange City, Florida, United States|Research Site, Jacksonville, Florida, United States|Research Site, Oklahoma City, Oklahoma, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04720976\",\n \"genes\": [\n \"KRAS\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT6403735\",\n \"brief_title\": \"A Phase I Clinical Study of QLC1101 in Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase I Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of QLC1101 Monotherapy in the Treatment of Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" QLC1101 is a selective reversible inhibitor of KRAS G12D, with the dosage form of capsules\\r and administration route of oral administration. In the first-in-humans (FIH) study, the\\r sponsor will explore the safety, tolerability, pharmacokinetics (PK), and preliminary\\r efficacy of QLC1101 in subjects with advanced solid tumors harboring a KRAS G12D mutation.\\r The FIH study includes dose escalation, PK expansion, and efficacy expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colorectal Cancer|Pancreatic Cancer|Non-small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: QLC1101\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Qilu Pharmaceutical Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"QLC1101-101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"May 2026\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"May 2024\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Harbin Medical university cancer hospital, Ha'erbin, Heilongjiang, China|Yunnan Cancer Hospital, Kunming, Yunnan, China|Shanghai east hospital, Shanghai, Shanghai, China|Jiangxi Cancer Hospital, Nanchang, Jiangxi, China|The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, Guangdong, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06403735\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5163028\",\n \"brief_title\": \"A Dose Escalation Study of SHP2 Inhibitor in Patients With Solid Tumors Harboring KRAS of EGFR Mutations\",\n \"official_title\": \"A Phase 1, Open-Label, Dose Escalation of HBI-2376 in Patients With Advanced Malignant Solid Tumors Harboring KRAS or EGFR Mutations\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS or EGFR\\r mutations to determine the maximum tolerated dose and recommended Phase II dose of HBI-2376\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer of Pancreas|Non Small Cell Lung Cancer|Cancer|Cancer of Colon|Colorectal Cancer|Solid Tumor|Pancreatic Cancer\",\n \"interventions\": \"DRUG: HBI-2376\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2376-101\",\n \"start_date\": \"December 2021\",\n \"primary_completion_date\": \"December 2024\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"December 2021\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"Providence Medical Foundation, Fullerton, California, United States|Orlando Health, Inc., Orlando, Florida, United States|Virginia Cancer Specialists, Fairfax, Virginia, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Texas Oncology - Tyler, Tyler, Texas, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05163028\",\n \"genes\": [\n \"EGFR\",\n \"PTPN11\",\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6218914\",\n \"brief_title\": \"A Study of NT-112 in HLA-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/ or Metastatic Solid Tumors Positive for the KRAS G12D Mutation\",\n \"official_title\": \"An Open-label, Phase 1, Multicenter Study to Evaluate the Safety and Preliminary Anti-tumor Activity of NT-112 in Human Leukocyte Antigen-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/or Metastatic Solid Tumors That Are Positive for the KRAS G12D Mutation\",\n \"brief_summary\": \" Phase I Study of NT-112, an autologous T-cell therapy product genetically engineered to\\r express an HLA-C*08:02-restricted T cell receptor (TCR), targeting KRAS G12D mutant solid\\r tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"KRAS G12D|Colorectal Carcinoma|Non-small Cell Lung Cancer|Endometrial Cancer|Solid Tumor, Adult|Pancreatic Ductal Adenocarcinoma\",\n \"interventions\": \"BIOLOGICAL: NT-112: Autologous, engineered T Cells targeting KRAS G12D\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Neogene Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NT-112-301\",\n \"start_date\": \"February 2024\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"January 2040\",\n \"first_posted\": \"January 2024\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Sarah Cannon Research Institute, Nashville, Tennessee, United States|NYU Langone Health, New York, New York, United States|Hoag Hospital Newport Beach, Newport Beach, California, United States|City of Hope, Duarte, California, United States|UCLA Health Jonsson Comprehensive Cancer Center, Los Angeles, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06218914\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5375084\",\n \"brief_title\": \"SHP2 Inhibitor BBP-398 in Combination With Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"official_title\": \"A Phase 1 Study of the SHP2 Inhibitor BBP-398 (Formerly Known as IACS-15509) in Combination With the Programmed Death Receptor-1 Blocking Antibody Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"brief_summary\": \" This is a Phase 1 study of BBP-398, a SHP2 inhibitor, in combination with nivolumab, a PD-1\\r antibody, in patients with NSCLC with a KRAS mutation. The study involves 2 parts: Phase 1a\\r Dose Escalation and Phase 1b Dose Expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: BBP-398 with nivolumab\",\n \"collaborators\": \"Industry: Bristol-Myers Squibb\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Navire Pharma Inc., a BridgeBio company\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NAV-1004\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"July 2024\",\n \"completion_date\": \"January 2025\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"February 2024\",\n \"locations\": \"Cleveland Clinic, Cleveland, Ohio, United States|Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, United States|NEXT Oncology, Fairfax, Virginia, United States|Providence Medical Foundation, Santa Rosa, California, United States|Medical University of South Carolina (MUSC) - Hollings Cancer Center, Charleston, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05375084\",\n \"genes\": [\n \"PTPN11\",\n \"KRAS\",\n \"PDCD1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5661201\",\n \"brief_title\": \"NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"official_title\": \"Phase I Study of NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"brief_summary\": \" The goal of this clinical trial is to learn about the safety of NEROFE and doxorubicin and\\r how well it works in patients with advanced/unresectable or metastatic solid KRAS-mutated and\\r ST-positive solid tumors. The main question it aims to answer is to find the recommended dose\\r and scheduled for the combination of NEROFE and doxorubicin. Participants will receive weekly\\r doses of NEROFE and doxorubicin.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: NEROFE|DRUG: Doxorubicin\",\n \"collaborators\": \"Industry: Immune System Key Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Other: Georgetown University\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"STUDY00005711\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"January 2026\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"December 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Georgetown Lombardi Comprehensive Cancer Center, Washington, District of Columbia, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05661201\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5578092\",\n \"brief_title\": \"A Phase 1/2 Study of MRTX0902 in Solid Tumors With Mutations in the KRAS MAPK Pathway\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of the SOS1 Inhibitor MRTX0902 in Patients With Advanced Solid Tumors Harboring Mutations in the KRAS MAPK Pathway\",\n \"brief_summary\": \" This is a Phase 1/2, open-label, multicenter, study evaluating the safety, tolerability, PK,\\r PD, and anti-tumor activity of MRTX0902 alone and in combination with MRTX849 (adagrasib) in\\r patients with advanced solid tumor malignancy harboring mutations in the KRAS-MAPK pathways.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor|Advanced Solid Tumor|Colo-rectal Cancer\",\n \"interventions\": \"DRUG: MRTX0902|DRUG: MRTX849\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"0902-001\",\n \"start_date\": \"November 2022\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"July 2026\",\n \"first_posted\": \"October 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Seattle Cancer Care Alliance, Seattle, Washington, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|Denver Drug Development Unit - HealthONE, Denver, Colorado, United States|Pan America center for Oncology Trials LLC, Rio Piedras, Puerto Rico\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05578092\",\n \"genes\": [\n \"KRAS\",\n \"SOS1\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6364696\",\n \"brief_title\": \"A Study to Find a Suitable Dose of ASP4396 in Adults With Solid Tumors\",\n \"official_title\": \"An Open-label Phase 1 Study of ASP4396 in Participants With Locally Advanced (Unresectable) or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Some types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors.\\r \\r ASP4396 is being developed as a potential new treatment for solid tumors in people who have\\r the G12D mutation in their KRAS gene. ASP4396 is not currently available as a treatment for\\r the public. In this study, researchers will learn how ASP4396 is processed by and acts upon\\r the body. This information will help find a suitable dose and to check for potential medical\\r problems from ASP4396.\\r \\r In this study, ASP4396 is being given to humans for the first time.\\r \\r People in this study will be adults with locally advanced (unresectable), or metastatic solid\\r tumors with the G12D mutation in their KRAS gene. Locally advanced means the cancer has\\r spread to nearby tissue. Unresectable means the cancer cannot be removed by surgery.\\r Metastatic means the cancer has spread to other parts of the body. They may have been\\r previously treated with standard therapies or refused to receive those treatments.\\r \\r The main aims of the study are to check the safety of ASP4396, how well people cope with\\r medical problems during the study (how well it is tolerated), and to find a suitable dose of\\r ASP4396.\\r \\r This is an open-label study. This means that people in this study and clinic staff will know\\r that they will receive ASP4396.\\r \\r This study will be in 2 parts.\\r \\r Part 1 is called Dose Escalation. Different small groups of people will receive lower to\\r higher doses of ASP4396. For each dose, all medical problems will be recorded. The first\\r group will receive the lowest dose of ASP4396. A medical expert panel will check the results\\r and decide if the next group can receive a higher dose of ASP4396. The panel will do this\\r until all groups have taken ASP4396 or until suitable doses have been selected for Part 2.\\r \\r Part 2 is called Dose Expansion. Other different small groups of people will receive ASP4396\\r with the most suitable doses worked out from Part 1. This will help find a more accurate dose\\r of ASP4396 to use in future studies.\\r \\r In both parts of the study, ASP4396 will be given through a vein. This is called an infusion.\\r Each treatment cycle is 21 days long. People will continue treatment until: they have medical\\r problems from the treatment they can't cope with (can't tolerate); their cancer gets worse;\\r they start other cancer treatment; or they ask to stop treatment.\\r \\r People will visit the clinic on certain days during their treatment, with extra visits during\\r the first 2 cycles of treatment. The study doctors will check for any medical problems from\\r ASP4396. Also, people in the study will have a health check including blood tests. On some\\r visits they will also have scans to check for any changes in their cancer. Tumor samples will\\r be taken at certain visits during treatment with the option of a tumor sample being taken\\r after treatment has finished.\\r \\r People will visit the clinic about 7 days after they stop treatment. They will be asked about\\r any medical problems and will have a health check including blood tests.\\r \\r After this, people will visit the clinic for a health check several times. The number of\\r visits and checks done at each visit will depend on the health of each person and whether\\r they completed their treatment or not.\\r \\r After treatment has finished, people in the study will be followed up for up to 45 weeks.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: ASP4396\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"4396-CL-0101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"April 2027\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"April 2024\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"NEXT Oncology Dallas, Irving, Texas, United States|NEXT Oncology Virginia, Fairfax, Virginia, United States|START Midwest, Grand Rapids, Michigan, United States|START Mountain Region, West Valley City, Utah, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06364696\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4249843\",\n \"brief_title\": \"Study of Safety, Pharmacokinetics, and Antitumor Activity of BGB-3245 in Participants With Advanced or Refractory Tumors\",\n \"official_title\": \"A First-in-Human, Phase 1a/1b, Open Label, Dose-Escalation and Expansion Study to Investigate the Safety, Pharmacokinetics, and Antitumor Activity of the RAF Dimer Inhibitor BGB-3245 in Patients With Advanced or Refractory Tumors\",\n \"brief_summary\": \" The purpose of this study is to evaluate the safety, tolerability, and antitumor activity of\\r BGB-3245 in participants with advanced or refractory solid tumors\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"B-Raf Mutation-Related Tumors|Solid Tumor\",\n \"interventions\": \"DRUG: BGB-3245\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: MapKure, LLC\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BGB-3245-AU-001\",\n \"start_date\": \"February 2020\",\n \"primary_completion_date\": \"August 2024\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"January 2020\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|One Clinical Research, Nedlands, Perth, Australia|MD Anderson, Houston, Texas, United States|The Kinghorn Cancer Centre, St Vincent Hospital Sydney, Sydney, New South Wales, Australia\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04249843\",\n \"genes\": [\n \"KRAS\",\n \"NRAS\",\n \"BRAF\"\n ],\n \"countries\": [\n \"United States\",\n \"Australia\"\n ]\n },\n {\n \"nct_number\": \"NCT5786924\",\n \"brief_title\": \"A Study of BDTX-4933 in Patients With KRAS, BRAF and Select RAS/MAPK Mutation-Positive Cancers\",\n \"official_title\": \"A Phase 1, Open-label Study of Oral BDTX-4933 in Patients With KRAS, BRAF and Other Select RAS/MAPK Mutation Positive Neoplasms\",\n \"brief_summary\": \" BDTX-4933-101 is a first-in-human, open-label, Phase 1 dose escalation and an expansion\\r cohort study designed to evaluate the safety and tolerability, maximum tolerated dose (MTD)\\r and the preliminary recommended Phase 2 dose (RP2D), and antitumor activity of BDTX-4933. The\\r study population for the Dose Escalation part of the study comprises adults with recurrent\\r advanced/metastatic non-small cell lung cancer (NSCLC) harboring KRAS non-G12C mutations or\\r BRAF mutations, advanced/metastatic melanoma harboring BRAF or NRAS mutations, histiocytic\\r neoplasms harboring BRAF or NRAS mutations, and other solid tumors harboring BRAF mutations.\\r The study population for the Dose Expansion part of the study comprises adults with recurrent\\r advanced/metastatic NSCLC harboring KRAS non-G12C mutations. All patients will\\r self-administer BDTX-4933 orally in 28-day cycles until disease progression, toxicity,\\r withdrawal of consent, or termination of the study.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Thyroid Carcinoma|Melanoma (Skin)|Histiocytic Neoplasm|BRAF V600E|BRAF Gene Mutation|Histiocytosis|KRAS Mutation-Related Tumors|KRAS G12D|Metastatic Lung Cancer|Recurrent NSCLC|Recurrent Lung Cancer|Metastatic Lung Non-Small Cell Carcinoma|Melanoma|Colorectal Carcinoma|Solid Carcinoma|NSCLC|NRAS Gene Mutation|Recurrent Lung Non-Small Cell Carcinoma|Recurrent Melanoma|Brain Metastases|KRAS G13C|Colorectal Cancer|Solid Tumor|Thyroid Cancer|BRAF|Metastatic Melanoma|Non-small Cell Lung Cancer|Recurrent Histiocytic and Dendritic Cell Neoplasm|BRAF V600 Mutation|KRAS G12V|BRAF Mutation-Related Tumors\",\n \"interventions\": \"DRUG: BDTX-4933\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Black Diamond Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BDTX-4933-101\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"March 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Dana-Farber Cancer Institute, Boston, Massachusetts, United States|NEXT Virginia, Fairfax, Virginia, United States|University of Colorado - Aurora Cancer Center, Aurora, Colorado, United States|Banner Health- MD Anderson Cancer Center, Gilbert, Arizona, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05786924\",\n \"genes\": [\n \"KRAS\",\n \"BRAF\",\n \"NRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"resistant_drugs\": [\n \"Panitumumab\",\n \"Tucatinib\",\n \"Fruquintinib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 25398282,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"resistant\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 5,\n \"clinvar_id\": [\n \"45123\"\n ],\n \"alt\": \"A\",\n \"ref\": \"C\",\n \"internal_frequency\": 10,\n \"variant_quality\": 9731.01,\n \"ref_depth\": 1137,\n \"alt_depth\": 610,\n \"cosmic_ids\": [\n \"COSM4169642;COSV55538079;COSV55497378\"\n ],\n \"dbsnp\": \"rs121913535\",\n \"somatic_interpretation_text\": \"p.Gly13Cys, a non synonymous variant in the KRAS, an oncogene.
The variant resides within the Ras, Arf, Roc, MMR_HSR1 domains.
The variant was reported in COSMIC (COSM4169642,COSV55538079,COSV55497378) and ClinVar (45123).
The variant was classified as a Tier 1 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1989,\n \"gene_coverage_data\": {\n \"percent_covered\": \"100.00\",\n \"average_coverage\": \"3413.22\",\n \"median_coverage\": 2890,\n \"max_coverage\": 6258,\n \"min_coverage\": 710\n },\n \"hgvs_p_single_letter\": \"p.G13C\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 264,\n \"same_ref_alt_amino_acid_count\": 32\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\",\n \"user_annotations\": [\n {\n \"name\": \"Oncomine Hotspot\",\n \"value\": \"\"\n }\n ]\n }\n ],\n \"title\": \"Potential clinical significance - Tier 2\",\n \"total\": 4,\n \"total_therapies\": 1\n },\n \"tier3\": {\n \"classification\": \"TIER_3\",\n \"title\": \"Unknown clinical significance - Tier 3\",\n \"sv_variants\": [\n {\n \"id\": \"chr6:31322251-31325035:ded96e2bf618b2e2cd2100982951b5ff\",\n \"chr\": \"chr6\",\n \"position\": 31322252,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"c.-100_*4+3del is a 2.8kb deletion.The variant was classified as a Tier 3 using the ASCO/CAP/AMP Guidelines and as VUS according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"CHR6: 31322252 None\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_005514.8\",\n \"variant_id\": \"chr6:31322251-31325035:ded96e2bf618b2e2cd2100982951b5ff\",\n \"classification\": \"TIER_3\",\n \"classification_flag\": \"TIER_3\",\n \"sv_length\": 2784,\n \"sv_type\": \"DELETION\",\n \"end_position\": 31325035,\n \"cipos\": {\n \"first\": 0,\n \"second\": 0\n },\n \"ciend\": {\n \"first\": 0,\n \"second\": 0\n },\n \"gene_list\": [\n \"MIR6891\",\n \"HLA-B\"\n ],\n \"germline_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"confidence\": \"High\",\n \"location\": \"TODO\",\n \"copy_number\": 0.39,\n \"somatic_interpretation_text\": \"c.-100_*4+3del is a 2.8kb deletion.
The variant was classified as a Tier 3 using the ASCO/CAP/AMP Guidelines and as VUS according to the ACMG Guidelines.\",\n \"sv_length_description\": \"2.78 Kb\",\n \"cytobands_description\": \"6p21.33\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"VUS\",\n \"amount_of_genes\": 2,\n \"highest_evidence_level\": \"?\"\n }\n ],\n \"total\": 1,\n \"total_therapies\": 1\n },\n \"report_info\": {\n \"title\": \"Tumor analysis\",\n \"report_date\": \"12/08/2024\",\n \"analysis_date\": \"12/08/2024\",\n \"signed_by\": \"Dr John Smith\",\n \"report_status\": \"Final\",\n \"signatures\": [\n {\n \"signer_name\": \"Dr John Smith\",\n \"status\": \"Final\",\n \"date\": \"12/08/2025\"\n }\n ]\n },\n \"sample_info\": {\n \"tissue_type\": \"FFPE\",\n \"disease\": \"endometrial carcinoma\",\n \"tumor_purity\": \"80.000%\",\n \"tumor_cellularity\": \"0.59\",\n \"batch_name\": \"22-Sep-2024\"\n },\n \"patient_info\": {\n \"dob\": \"17/10/1962\",\n \"sex\": \"Female\",\n \"name\": \"Eve Gall\",\n \"ethnicity\": \"\",\n \"age\": 63,\n \"case_name\": \"1234-abcd\",\n \"age_description\": {\n \"amount\": 63,\n \"date_unit\": \"YEARS\"\n }\n },\n \"technical_info\": {\n \"description\": \"Test description was not configured\",\n \"limitations\": [\n \"Test limitations were not configured\"\n ],\n \"disclaimers\": \"Test disclaimer was not configured\",\n \"genes\": [\n \"FLT3\",\n \"TET2\",\n \"NPM1\",\n \"SETBP1\",\n \"CEBPA\",\n \"MYD88\",\n \"RB1\",\n \"DNMT3A\",\n \"NF1\",\n \"SRSF2\",\n \"IDH1\",\n \"TP53\",\n \"ZRSR2\",\n \"ASXL1\",\n \"CSF3R\",\n \"EZH2\",\n \"ETV6\",\n \"WT1\",\n \"RUNX1\",\n \"IKZF1\",\n \"BRAF\",\n \"IDH2\",\n \"KRAS\",\n \"HRAS\",\n \"GATA2\",\n \"CBL\",\n \"STAG2\",\n \"JAK2\",\n \"NRAS\",\n \"KIT\",\n \"PHF6\",\n \"PTPN11\",\n \"PRPF8\",\n \"BCOR\",\n \"U2AF1\",\n \"CALR\",\n \"SH2B3\",\n \"ABL1\",\n \"MPL\",\n \"SF3B1\"\n ],\n \"annotation_version\": 87,\n \"cnv_annotation_version\": 87,\n \"genomic_build\": \"HG19\",\n \"refseq_version\": \"2023-08-10\",\n \"clinvar_version\": \"2025-06\",\n \"gnomad_version\": \"r2.1.1\",\n \"acmg_sf_version\": \"3.2\",\n \"coverage_info\": {\n \"low_covered_genes\": [\n {\n \"gene_symbol\": \"A1CF\",\n \"coverage_percentage\": 0.8883025646209717,\n \"average_coverage\": 1110.7071533203125,\n \"median_coverage\": 1048,\n \"max_coverage\": 2293,\n \"min_coverage\": 1\n },\n {\n \"gene_symbol\": \"ABCB1\",\n \"coverage_percentage\": 0.919603168964386,\n \"average_coverage\": 1393.2784423828125,\n \"median_coverage\": 1259,\n \"max_coverage\": 2750,\n \"min_coverage\": 57\n },\n {\n \"gene_symbol\": \"ACSM2B\",\n \"coverage_percentage\": 0.889737069606781,\n \"average_coverage\": 1351.8150634765625,\n \"median_coverage\": 1627,\n \"max_coverage\": 2453,\n \"min_coverage\": 40\n },\n {\n \"gene_symbol\": \"ACVR1B\",\n \"coverage_percentage\": 0.9407265782356262,\n \"average_coverage\": 1637.2650146484375,\n \"median_coverage\": 1602,\n \"max_coverage\": 4397,\n \"min_coverage\": 71\n },\n {\n \"gene_symbol\": \"ADAMTS2\",\n \"coverage_percentage\": 0.6848623752593994,\n \"average_coverage\": 430.6105651855469,\n \"median_coverage\": 337,\n \"max_coverage\": 1018,\n \"min_coverage\": 4\n },\n {\n \"gene_symbol\": \"AKT1\",\n \"coverage_percentage\": 0.7548770308494568,\n \"average_coverage\": 604.9618530273438,\n \"median_coverage\": 487,\n \"max_coverage\": 1291,\n \"min_coverage\": 146\n },\n {\n \"gene_symbol\": \"AKT2\",\n \"coverage_percentage\": 0.9058441519737244,\n \"average_coverage\": 473.9066467285156,\n \"median_coverage\": 450,\n \"max_coverage\": 697,\n \"min_coverage\": 231\n },\n {\n \"gene_symbol\": \"ANKIB1\",\n \"coverage_percentage\": 0,\n \"average_coverage\": 97.0569076538086,\n \"median_coverage\": 97,\n \"max_coverage\": 99,\n \"min_coverage\": 96\n },\n {\n \"gene_symbol\": \"ANO4\",\n \"coverage_percentage\": 0.9480230808258057,\n \"average_coverage\": 1476.692138671875,\n \"median_coverage\": 1582,\n \"max_coverage\": 2471,\n \"min_coverage\": 252\n },\n {\n \"gene_symbol\": \"AR\",\n \"coverage_percentage\": 0.8993055820465088,\n \"average_coverage\": 1641.0946044921875,\n \"median_coverage\": 1380,\n \"max_coverage\": 3767,\n \"min_coverage\": 257\n },\n {\n \"gene_symbol\": \"ARID1A\",\n \"coverage_percentage\": 0.90361088514328,\n \"average_coverage\": 1423.42724609375,\n \"median_coverage\": 1264,\n \"max_coverage\": 4339,\n \"min_coverage\": 37\n },\n {\n \"gene_symbol\": \"ARID1B\",\n \"coverage_percentage\": 0.891566276550293,\n \"average_coverage\": 1635.886474609375,\n \"median_coverage\": 1494,\n \"max_coverage\": 5304,\n \"min_coverage\": 0\n },\n {\n \"gene_symbol\": \"ARMC4\",\n \"coverage_percentage\": 0.8841262459754944,\n \"average_coverage\": 1473.7451171875,\n \"median_coverage\": 1596,\n \"max_coverage\": 2500,\n \"min_coverage\": 7\n },\n {\n \"gene_symbol\": \"ASB18\",\n \"coverage_percentage\": 0,\n \"average_coverage\": 192.97959899902344,\n \"median_coverage\": 193,\n \"max_coverage\": 197,\n \"min_coverage\": 190\n },\n {\n \"gene_symbol\": \"AURKA\",\n \"coverage_percentage\": 0.9298112988471985,\n \"average_coverage\": 1600.2755126953125,\n \"median_coverage\": 1584,\n \"max_coverage\": 3752,\n \"min_coverage\": 279\n },\n {\n \"gene_symbol\": \"AXIN1\",\n \"coverage_percentage\": 0.8398185968399048,\n \"average_coverage\": 756.5929565429688,\n \"median_coverage\": 612,\n \"max_coverage\": 2468,\n \"min_coverage\": 2\n },\n {\n \"gene_symbol\": \"BAP1\",\n \"coverage_percentage\": 0.9145234227180481,\n \"average_coverage\": 1050.323486328125,\n \"median_coverage\": 877,\n \"max_coverage\": 3680,\n \"min_coverage\": 186\n },\n {\n \"gene_symbol\": \"BIN3\",\n \"coverage_percentage\": 0,\n \"average_coverage\": 276.6666564941406,\n \"median_coverage\": 287,\n \"max_coverage\": 292,\n \"min_coverage\": 220\n },\n {\n \"gene_symbol\": \"BMPR2\",\n \"coverage_percentage\": 0.9140568375587463,\n \"average_coverage\": 1314.7078857421875,\n \"median_coverage\": 1445,\n \"max_coverage\": 2335,\n \"min_coverage\": 78\n },\n {\n \"gene_symbol\": \"BORCS8-MEF2B\",\n \"coverage_percentage\": 0.8542621731758118,\n \"average_coverage\": 726.1494140625,\n \"median_coverage\": 665,\n \"max_coverage\": 1836,\n \"min_coverage\": 74\n },\n {\n \"gene_symbol\": \"BRINP3\",\n \"coverage_percentage\": 0.8908406496047974,\n \"average_coverage\": 1809.899169921875,\n \"median_coverage\": 2065,\n \"max_coverage\": 2869,\n \"min_coverage\": 42\n },\n {\n \"gene_symbol\": \"BRIP1\",\n \"coverage_percentage\": 0.9364799857139587,\n \"average_coverage\": 2119.505615234375,\n \"median_coverage\": 1806,\n \"max_coverage\": 5550,\n \"min_coverage\": 4\n },\n {\n \"gene_symbol\": \"C14orf39\",\n \"coverage_percentage\": 0,\n \"average_coverage\": 252.1525421142578,\n \"median_coverage\": 253,\n \"max_coverage\": 254,\n \"min_coverage\": 243\n },\n {\n \"gene_symbol\": \"C6\",\n \"coverage_percentage\": 0.7905491590499878,\n \"average_coverage\": 1197.62744140625,\n \"median_coverage\": 1388,\n \"max_coverage\": 2755,\n \"min_coverage\": 49\n },\n {\n \"gene_symbol\": \"C8A\",\n \"coverage_percentage\": 0.8935986161231995,\n \"average_coverage\": 1297.8270263671875,\n \"median_coverage\": 1365,\n \"max_coverage\": 2126,\n \"min_coverage\": 292\n },\n {\n \"gene_symbol\": \"C8B\",\n \"coverage_percentage\": 0.9130998849868774,\n \"average_coverage\": 1195.95068359375,\n \"median_coverage\": 981,\n \"max_coverage\": 2610,\n \"min_coverage\": 0\n },\n {\n \"gene_symbol\": \"CANX\",\n \"coverage_percentage\": 0.914478600025177,\n \"average_coverage\": 1533.771240234375,\n \"median_coverage\": 1247,\n \"max_coverage\": 3138,\n \"min_coverage\": 273\n },\n {\n \"gene_symbol\": \"CARD11\",\n \"coverage_percentage\": 0.8770833611488342,\n \"average_coverage\": 615.2557373046875,\n \"median_coverage\": 681,\n \"max_coverage\": 948,\n \"min_coverage\": 204\n },\n {\n \"gene_symbol\": 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For the treatment of patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [≥10 mutations/megabase (mut/Mb)] tumors, as determined by a validated and/or FDA-approved test, that have progressed following prior treatment and have no satisfactory alternative treatment options.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"uterine corpus sarcoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n }\n ]\n },\n \"gnx_classification\": \"TIER_1\"\n },\n \"msi\": {\n \"score\": 70.67923780747094,\n \"level\": \"HIGH\",\n \"classification\": \"TIER_1\",\n \"evidence\": {\n \"diagnostic\": [\n {\n \"id\": \"CURATION10001\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN guidelines give a diagnostic algorithm for integrated genomic-pathologic classification of endometrial carcinomas. Ancillary studies for POLE mutations, mismatch repair (MMR)/MSI, and aberrant p53 expression are encouraged to complement morphologic assessment of histologic tumor type (category 2A).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\"\n },\n {\n \"id\": \"CURATION10024\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN guidelines give a diagnostic algorithm for integrated genomic-pathologic classification of endometrial carcinomas. Ancillary studies for POLE mutations, mismatch repair (MMR)/MSI, and aberrant p53 expression are encouraged to complement morphologic assessment of histologic tumor type (category 2A).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\"\n },\n {\n \"id\": \"CURATION10001\",\n \"pubmed_id\": 8521398,\n \"details\": \"PUBLICATIONS\",\n \"positive\": false,\n \"selected\": false,\n \"description\": \"High levels of MSI are the biologic hallmark of Lynch syndrome\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"responsive\": false,\n \"evidence_disease\": \"Lynch syndrome\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 8521398\n ]\n }\n ],\n \"prognostic\": [\n {\n \"id\": \"CURATION10003\",\n \"pubmed_id\": 15800322,\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"Among patients with localized CRCs, tumors that are MSI-H are associated with longer survival than tumors that either have low microsatellite instability MSI-L or are microsatellite stable (MSS),\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 15800322,\n 8261392,\n 17606714,\n 24019539,\n 8484122,\n 21383284,\n 8608876,\n 28983557,\n 11309634,\n 10631274,\n 16710035\n ]\n },\n {\n \"id\": \"CURATION10011\",\n \"pubmed_id\": 31956294,\n \"details\": \"PUBLICATIONS\",\n \"positive\": false,\n \"selected\": false,\n \"description\": \"MSI-H patients with breast cancer have bad prognosis\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"responsive\": false,\n \"evidence_url\": \"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958913/\",\n \"evidence_disease\": \"BREAST CANCER\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 31956294\n ]\n },\n {\n \"id\": \"CURATION10016\",\n \"pubmed_id\": 31956294,\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"MSI-H/dMMR patients with bladder cancer have good prognosis\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958913/\",\n \"evidence_disease\": \"BLADDER CANCER\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 31956294\n ]\n },\n {\n \"id\": \"CURATION10014\",\n \"pubmed_id\": 31956294,\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"MSI-H/dMMR patients with cholangiocarcinoma have good prognosis\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958913/\",\n \"evidence_disease\": \"CHOLANGIOCARCINOMA\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 31956294\n ]\n },\n {\n \"id\": \"CURATION10009\",\n \"pubmed_id\": 31956294,\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"MSI-H resectable primary gastric cancer have good prognosis\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958913/\",\n \"evidence_disease\": \"GASTRIC CANCER\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 31956294\n ]\n },\n {\n \"id\": \"CURATION10018\",\n \"pubmed_id\": 31956294,\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"MSI-H/dMMR patients with PDAC have good prognosis\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": true,\n \"responsive\": true,\n \"evidence_url\": \"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958913/\",\n \"evidence_disease\": \"PANCREATIC DUCTAL ADENOCARCINOMA\",\n \"evidence_source\": \"PUBMED\",\n \"pubmed_ids\": [\n 31956294\n ]\n }\n ],\n \"therapeutic\": [\n {\n \"id\": \"CURATION10052\",\n \"details\": \"FDA CURATION10052 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved dostarlimab-gxly in combination with carboplatin and paclitaxel, followed by dostarlimab-gxly as a single agent, is indicated for the treatment of adult patients with primary advanced or recurrent endometrial cancer (EC) that is mismatch repair deficient (dMMR), as determined by an FDAapproved test, or microsatellite instability-high (MSI-H). Clinical Feature: Age>18 | Disease stage: advanced or recurrent disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf\",\n \"evidence_disease\": \"Endometrial cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10072\",\n \"details\": \"FDA CURATION10072 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved dostarlimab-gxly in combination with carboplatin and paclitaxel, followed by dostarlimab-gxly as a single agent, is indicated for the treatment of adult patients with primary advanced or recurrent endometrial cancer (EC) that is mismatch repair deficient (dMMR), as determined by an FDAapproved test, or microsatellite instability-high (MSI-H). Clinical Feature: Age>18 | Disease stage: advanced or recurrent disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/761174s006lbl.pdf\",\n \"evidence_disease\": \"Endometrial cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10064\",\n \"details\": \"FDA CURATION10064 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Select patients for treatment with pembrolizumab as a single agent based on MSI-H/dMMR status in tumor specimens. Clinical Feature: Age<18 | Age>18 | Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10024\",\n \"details\": \"FDA CURATION10024 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab for the treatment of adult and pediatric patients with unresectable or metastatic, microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors that have progressed following prior treatment and who have no satisfactory alternative treatment options\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Solid Tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10005\",\n \"details\": \"FDA CURATION10005 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"Keytruda (pembrolizumab) is indicated for the treatment of adult and pediatric patients with unresectable or metastatic solid tumors that have been identified as having a biomarker referred to as microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR).\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-cancer-treatment-any-solid-tumor-specific-genetic-feature.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-cancer-treatment-any-solid-tumor-specific-genetic-feature\",\n \"evidence_disease\": \"SOLID TUMOR\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10056\",\n \"details\": \"FDA CURATION10056 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab is indicated for the treatment of adult and pediatric patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. Select patients for treatment with pembrolizumab as a single agent based on MSI-H/dMMR status in tumor specimens. Clinical Feature: Age<18 | Age>18 | Disease stage: unresectable or metastatic disease\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/125514s145lbl.pdf\",\n \"evidence_disease\": \"Solid tumor\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10026\",\n \"details\": \"FDA CURATION10026 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved pembrolizumab in combination with lenvatinib, for the treatment of patients with advanced endometrial carcinoma that is not MSI-H or dMMR, who have disease progression following prior systemic therapy and are not candidates for curative surgery or radiation.\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/125514s088lbl.pdf\",\n \"evidence_disease\": \"Endometrial Cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10039\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends nivolumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Opdivo\",\n \"name\": \"Nivolumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10021\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends nivolumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Opdivo\",\n \"name\": \"Nivolumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10009\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends pembrolizumab as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy (category 2A, useful in certain circumstances). For recurrent endometrial cancer, NCCN recommends MSI-H or dMMR testing if not previously done.\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10035\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends pembrolizumab as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy (category 2A, useful in certain circumstances). For recurrent endometrial cancer, NCCN recommends MSI-H or dMMR testing if not previously done.\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10043\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends avelumab as a second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-L1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Bavencio\",\n \"name\": \"Avelumab\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10030\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10003\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a first-line or second-line or subsequent therapy option for recurrent dMMR/MSI-H endometrial carcinoma that has progressed on or following prior treatment with a platinum-containing regimen in any setting including neoadjuvant or adjuvant therapy. (category 2A, useful in certain circumstances).\\\"\",\n \"level\": \"A\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/uterine.pdf\",\n \"evidence_disease\": \"Endometrial Carcinoma\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10021\",\n \"details\": \"FDA CURATION10021 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The Food and Drug Administration granted accelerated approval to ipilimumab for use in combination with nivolumab for the treatment of patients 12 years of age and older with microsatellite instability-high (MSI-H)\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-CTLA-4 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Yervoy\",\n \"name\": \"Ipilimumab\",\n \"details_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/drugs/resources-information-approved-drugs/fda-grants-accelerated-approval-ipilimumab-msi-h-or-dmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10004\",\n \"details\": \"FDA CURATION10004 \",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"The U.S. Food and Drug Administration approved Keytruda (pembrolizumab) for intravenous injection for the first-line treatment of patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR) colorectal cancer.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-PD-1 monoclonal antibody\",\n \"outcome\": true,\n \"trade_name\": \"Keytruda\",\n \"name\": \"Pembrolizumab\",\n \"details_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.fda.gov/news-events/press-announcements/fda-approves-first-line-immunotherapy-patientsmsi-hdmmr-metastatic-colorectal-cancer\",\n \"evidence_disease\": \"Colon-rectal cancer\",\n \"evidence_source\": \"FDA\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10005\",\n \"details\": \"NCCN\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The NCCN panel recommends dostarlimab-gxly as a subsequent therapy option following therapy with or without oxaliplatin/irinotecan for advanced or metastatic rectal cancer with dMMR/MSI-H, if no previous treatment with a checkpoint inhibitor was given (category 2A). If disease response, consider discontinuing checkpoint inhibitor after 2 years of treatment.\\\"\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.nccn.org/professionals/physician_gls/pdf/rectal.pdf\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"NCCN\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"CURATION10026\",\n \"details\": \"PUBLICATIONS\",\n \"positive\": true,\n \"selected\": false,\n \"description\": \"\\\"The checkpoint inhibitor, dostarlimab-gxly, has also been investigated as neoadjuvant therapy in a small phase II study of patients with dMMR/MSIH stage II or III rectal cancer. In this study, patients were initially treated with dostarlimab-gxly for 6 months, with chemoRT and surgery planned for those with residual disease. Remarkably, all 12 patients in this trial showed a complete clinical response to dostarlimab-gxly and no patients at the date of publication had required chemoRT or surgery. No cases of progression or recurrence were reported during follow-up (range, 6–25 months).\\\"\",\n \"level\": \"?\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Dostarlimab-gxly\",\n \"outcome\": true,\n \"trade_name\": \"Jemperli | GlaxoSmithKline\",\n \"name\": \"Dostarlimab-gxly\",\n \"responsive\": true,\n \"evidence_url\": \"PMID: 35660797\",\n \"evidence_disease\": \"Rectal cancer\",\n \"evidence_source\": \"PUBMED\",\n \"explicitly_in_report\": true\n }\n ]\n },\n \"gnx_classification\": \"TIER_1\"\n }\n },\n \"clinical_trials\": [\n {\n \"id\": \"NCT6105021\",\n \"details\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06105021\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT5786924\",\n \"details\": \"A Phase 1, Open-label Study of Oral BDTX-4933 in Patients With KRAS, BRAF and Other Select RAS/MAPK Mutation Positive Neoplasms\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05786924\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT5276973\",\n \"details\": \"Phase I/IB Safety and Pharmacodynamic Study of Neoadjuvant (NACT) Paclitaxel and Carboplatin With Ipatasertib as Initial Therapy of Ovarian Cancer PTMA 100805\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05276973\",\n \"biomarkers\": [\n \"PTEN p.Pro248Thrfs*5\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT6364696\",\n \"details\": \"An Open-label Phase 1 Study of ASP4396 in Participants With Locally Advanced (Unresectable) or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06364696\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT6237413\",\n \"details\": \"A Phase I/II Dose Escalation Study to Evaluating the Tolerability, Safety, Efficacy and Pharmacokinetics of ZG2001 Tosilate Tablets in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06237413\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"id\": \"NCT5375084\",\n \"details\": \"A Phase 1 Study of the SHP2 Inhibitor BBP-398 (Formerly Known as IACS-15509) in Combination With the Programmed Death Receptor-1 Blocking Antibody Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05375084\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT4526470\",\n \"details\": \"Phase IB/II Study of Alpelisib in Combination With Paclitaxel in Patients With PIK3CA-altered Metastatic/Recurrent Gastric Cancer\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04526470\",\n \"biomarkers\": [\n \"PTEN p.Pro248Thrfs*5\"\n ],\n \"countries\": [\n \"Korea, Republic of\"\n ]\n },\n {\n \"id\": \"NCT5023655\",\n \"details\": \"A Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation\",\n \"phases\": \"2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05023655\",\n \"biomarkers\": [\n \"PTEN p.Pro248Thrfs*5\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT5163028\",\n \"details\": \"A Phase 1, Open-Label, Dose Escalation of HBI-2376 in Patients With Advanced Malignant Solid Tumors Harboring KRAS or EGFR Mutations\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05163028\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"id\": \"NCT4720976\",\n \"details\": \"A Phase 1/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Evidence of Antitumor Activity of JAB-3312 Based Combination Therapies in Adult Patients With Advanced Solid Tumors\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04720976\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT6218914\",\n \"details\": \"An Open-label, Phase 1, Multicenter Study to Evaluate the Safety and Preliminary Anti-tumor Activity of NT-112 in Human Leukocyte Antigen-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/or Metastatic Solid Tumors That Are Positive for the KRAS G12D Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06218914\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT6403735\",\n \"details\": \"A Phase I Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of QLC1101 Monotherapy in the Treatment of Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06403735\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"id\": \"NCT5737706\",\n \"details\": \"A Phase 1/2 Multiple Expansion Cohort Trial of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05737706\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT5661201\",\n \"details\": \"Phase I Study of NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05661201\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT5382559\",\n \"details\": \"A Phase 1 Study of ASP3082 in Participants With Previously Treated Locally Advanced or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05382559\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\",\n \"Japan\",\n \"France\"\n ]\n },\n {\n \"id\": \"NCT5887492\",\n \"details\": \"A Phase 1/2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of TNG260 as Single Agent and in Combination With an Anti-PD-1 Antibody In Patients With STK11 Mutated Advanced Solid Tumors\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05887492\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"id\": \"NCT4249843\",\n \"details\": \"A First-in-Human, Phase 1a/1b, Open Label, Dose-Escalation and Expansion Study to Investigate the Safety, Pharmacokinetics, and Antitumor Activity of the RAF Dimer Inhibitor BGB-3245 in Patients With Advanced or Refractory Tumors\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04249843\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\",\n \"Australia\"\n ]\n },\n {\n \"id\": \"NCT5578092\",\n \"details\": \"A Phase 1/2 Multiple Expansion Cohort Trial of the SOS1 Inhibitor MRTX0902 in Patients With Advanced Solid Tumors Harboring Mutations in the KRAS MAPK Pathway\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05578092\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"id\": \"NCT5311709\",\n \"details\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"phases\": \"2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05311709\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"Norway\"\n ]\n },\n {\n \"id\": \"NCT5485974\",\n \"details\": \"A Phase 1, Open Label, Dose Escalation of HBI-2438 in Patients With Advanced Malignant Solid Tumors Harboring KRAS G12C Mutation\",\n \"phases\": \"1\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05485974\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"id\": \"NCT6166836\",\n \"details\": \"A Phase 1b/II, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of D-1553 Combined With IN10018 in Subjects With Locally Advanced or Metastatic Solid Tumors With KRAS G12C Mutation\",\n \"phases\": \"1|2\",\n \"status\": \"Recruiting\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06166836\",\n \"biomarkers\": [\n \"KRAS p.Gly12Asp\\nKRAS p.Gly13Cys\"\n ],\n \"countries\": [\n \"China\"\n ]\n }\n ],\n \"genes\": [\n \" RET\",\n \" FBXW7\",\n \" DPYD\",\n \" NTRK3\",\n \" TP53\",\n \" PPP2R1A\",\n \" CCNE1\",\n \" ERBB2\",\n \" NTRK2\",\n \" AKT1\",\n \" BRAF\",\n \" NRG1\",\n \" NTRK1\",\n \" MTAP\",\n \" POLE\"\n ],\n \"reported_variants\": [\n {\n \"id\": \"chr10:89717714-89717715:bdf9326388d4e9f43491641407bbf722\",\n \"chr\": \"chr10\",\n \"gene\": \"PTEN\",\n \"vaf\": \"69.74\",\n \"drugs\": [\n {\n \"id\": \"FDA507\",\n \"details\": \"FDA FDA507 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved capivasertib in combination with fulvestrant, is indicated for the treatment of adult patients with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alteration as detected by an FDA-approved test following progression on at least one endocrine-based regimen in the metastatic setting or recurrence on or within 12 months of completing adjuvant therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Serine/threonine protein kinase inhibitor\",\n \"outcome\": true,\n \"name\": \"Capivasertib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf\",\n \"evidence_disease\": \"Her2-receptor negative breast cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"INNER_CIV4559\",\n \"pubmed_id\": 25672916,\n \"details\": \"CIVIC EID714 Level B | Rating 3\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel therapy in a phase I study in advanced solid cancers.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Alkylating agent, Chemotherapeutic agent\",\n \"outcome\": true,\n \"trade_name\": \"Paraplatin\",\n \"name\": \"Carboplatin\",\n \"details_url\": \"https://civicdb.org/evidence/714\",\n \"responsive\": true,\n \"evidence_url\": \"https://civicdb.org/evidence/714\",\n \"evidence_disease\": \"Cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"CIVIC\",\n \"pubmed_ids\": [\n 25672916\n ],\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"3.977218511863612E-6\",\n \"hgvs_c\": \"c.741dup\",\n \"hgvs_p\": \"p.Pro248Thrfs*5\",\n \"coverage\": 1966,\n \"position\": 89717715,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"p.Pro248Thrfs*5, a frameshift variant in the PTEN, a tumor suppressor gene.The variant resides within the PTEN_C2 domain.The variant was reported in COSMIC (COSV64288676) and ClinVar (142259).The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Pro248Thrfs*5 | c.741dup | NM_000314.8 | CHR10: 89717715 None | VAF: 69.74% | Coverage: 1966 | COSMIC ID: COSV64288676 | rs587782341 | ClinVar ID: RCV000541432, RCV000131274, RCV000520431, RCV003453082, RCV002483266\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase (PTEN), is a tumor suppressor with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway. PTEN is one of the most frequently mutated genes in human cancer. PTEN somatic alterations including R130G, R130Q, R130*, R233*, T319fs, T267fs, and R173C and loss of function mutations have been found in many types of cancer including, melanoma, endometrial, and prostate. PTEN germline mutations are common in a group of disorders referred to jointly as the 'PTEN hamartoma tumor syndrome (PHTS)', which is associated with glioma, breast and thyroid cancer.\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_000314.8\",\n \"variant_id\": \"chr10:89717714-89717715:bdf9326388d4e9f43491641407bbf722\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT4526470\",\n \"brief_title\": \"Alpelisib and Paclitaxel in PIK3CA-altered Gastric Cancer\",\n \"official_title\": \"Phase IB/II Study of Alpelisib in Combination With Paclitaxel in Patients With PIK3CA-altered Metastatic/Recurrent Gastric Cancer\",\n \"brief_summary\": \" Alpelisib (BYL719) is a PIK3CA-specific inhibitor, which was developed by Novartis (Basel,\\r Switzerland). Our group conducted pre-clinical study of alpelisib in eight gastric cancer\\r cell lines: four PIK3CA wild-type (SNU638, SNU668, SNU1, and SNU16) and four PIK3CA mutant\\r (SNU719, AGS, SNU601, and MKN). As a result, alpelisib preferentially inhibited the growth of\\r gastric cancer cells with PIK3CA mutations. In addition, alpelisib inhibited cell growth via\\r G1 arrest and subsequently induces apoptosis in GC cells, and this effect is more remarkable\\r in cells harboring PIK3CA mutations. Moreover, alpelisib in combination with paclitaxel\\r showed synergistic cytotoxic effects and significantly increased apoptosis compared with\\r alpelisib or paclitaxel monotherapy in GC cells.\\r \\r The purpose of the study is to define the maximal tolerated dose (MTD) and recommended phase\\r II dose (RP2D) of paclitaxel and alpelisib combination therapy in patients with advanced\\r tumors and to evaluate the efficacy of paclitaxel and AZD8186 combination therapy as a\\r second-line therapy in patients with advanced gastric cancer with PTEN aberrations. This\\r study is divided into Phase IB and Phase II.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|Stomach Cancer\",\n \"interventions\": \"DRUG: Alpelisib|DRUG: Paclitaxel\",\n \"gender\": \"All\",\n \"age\": \"20 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Other: Seoul National University Bundang Hospital\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"B-2004/604-002\",\n \"start_date\": \"September 2020\",\n \"primary_completion_date\": \"June 2023\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"August 2020\",\n \"last_update_posted\": \"August 2021\",\n \"locations\": \"Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, Korea, Republic of|Asan Medical Center, Seoul, Korea, Republic of\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04526470\",\n \"genes\": [\n \"PTEN\",\n \"PIK3CA\",\n \"GC\"\n ],\n \"countries\": [\n \"Korea, Republic of\"\n ]\n },\n {\n \"nct_number\": \"NCT5023655\",\n \"brief_title\": \"Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation\",\n \"official_title\": \"A Phase II Study of Tazemetostat in Solid Tumors Harboring an ARID1A Mutation\",\n \"brief_summary\": \" The FDA approved targeted agent tazemetostat inhibits EZH2 and induces durable tumor\\r responses in patients with B-cell non-Hodgkin's lymphoma and epithelioid sarcomas. Responses\\r have also been demonstrated in INI1 and SMARCA4 negative solid tumors patients. Since EZH2\\r plays a critical role in driving the biology of ARID1A mutated malignancies, we hypothesize\\r that inhibition of EZH2 with tazemetostat will lead to significant clinical benefit in ARID1A\\r mutated malignancies.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|ARID1A Gene Mutation\",\n \"interventions\": \"DRUG: Tazemetostat\",\n \"collaborators\": \"Industry: Ipsen\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Prisma Health-Upstate\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"EPZ-IST-001\",\n \"start_date\": \"January 2022\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"August 2021\",\n \"last_update_posted\": \"April 2023\",\n \"locations\": \"Prisma Health Cancer Institute, Greenville, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05023655\",\n \"genes\": [\n \"PTEN\",\n \"SMARCA4\",\n \"GC\",\n \"PIK3CA\",\n \"ARID1A\",\n \"EZH2\",\n \"PIK3IP1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5276973\",\n \"brief_title\": \"Testing the Addition of Ipatasertib to the Usual Chemotherapy Treatment (Paclitaxel and Carboplatin) for Stage III or IV Epithelial Ovarian Cancer\",\n \"official_title\": \"Phase I/IB Safety and Pharmacodynamic Study of Neoadjuvant (NACT) Paclitaxel and Carboplatin With Ipatasertib as Initial Therapy of Ovarian Cancer PTMA 100805\",\n \"brief_summary\": \" This phase I/IB trial tests the safety, side effects, and best dose of ipatasertib in\\r combination with paclitaxel and carboplatin in treating patients with stage III or IV\\r epithelial ovarian cancer. Ipatasertib may stop the growth of tumor cells by blocking some of\\r the enzymes needed for cell growth. Paclitaxel is in a class of medications called taxanes.\\r It stops tumor cells from growing and dividing and may kill them. Carboplatin is in a class\\r of medications known as platinum-containing compounds. It works in a way similar to the\\r anticancer drug cisplatin, but may be better tolerated than cisplatin. Carboplatin works by\\r killing, stopping or slowing the growth of tumor cells. Giving ipatasertib in combination\\r with paclitaxel and carboplatin may lower the chance of the tumor growing or spreading for\\r longer than the paclitaxel and carboplatin alone.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma|Unresectable Ovarian High Grade Serous Adenocarcinoma|Fallopian Tube High Grade Serous Adenocarcinoma|Stage IV Fallopian Tube Cancer AJCC v8|Ovarian High Grade Serous Adenocarcinoma|Stage III Primary Peritoneal Cancer AJCC v8|Unresectable Ovarian Endometrioid Adenocarcinoma|Unresectable Fallopian Tube High Grade Serous Adenocarcinoma|Primary Peritoneal High Grade Serous Adenocarcinoma|Ovarian Endometrioid Adenocarcinoma|Stage IV Primary Peritoneal Cancer AJCC v8|Fallopian Tube Endometrioid Adenocarcinoma|Stage III Fallopian Tube Cancer AJCC v8|Stage IV Ovarian Cancer AJCC v8|Primary Peritoneal Endometrioid Adenocarcinoma|Unresectable Fallopian Tube Endometrioid Adenocarcinoma|Stage III Ovarian Cancer AJCC v8|Unresectable Primary Peritoneal Endometrioid Adenocarcinoma\",\n \"interventions\": \"DRUG: Carboplatin|DRUG: Ipatasertib|DRUG: Paclitaxel|PROCEDURE: Biopsy\",\n \"collaborators\": \"Other: NRG Oncology\",\n \"gender\": \"Female\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"NIH: National Cancer Institute (NCI)\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NCI-2022-01930|NRG-GY027|U10CA180868\",\n \"start_date\": \"September 2022\",\n \"primary_completion_date\": \"June 2024\",\n \"completion_date\": \"June 2024\",\n \"first_posted\": \"March 2022\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, United States|Virginia Commonwealth University/Massey Cancer Center, Richmond, Virginia, United States|University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States|Medical College of Wisconsin, Milwaukee, Wisconsin, United States|Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05276973\",\n \"genes\": [\n \"PTEN\",\n \"TP53\",\n \"PIK3CA\",\n \"PTMA\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"responsive_drugs\": [\n \"Capivasertib\",\n \"Carboplatin\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"INDEL\",\n \"end_position\": 89717715,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"responsive\": [\n {\n \"id\": \"FDA507\",\n \"details\": \"FDA FDA507 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved capivasertib in combination with fulvestrant, is indicated for the treatment of adult patients with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alteration as detected by an FDA-approved test following progression on at least one endocrine-based regimen in the metastatic setting or recurrence on or within 12 months of completing adjuvant therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Serine/threonine protein kinase inhibitor\",\n \"outcome\": true,\n \"name\": \"Capivasertib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/218197s000lbl.pdf\",\n \"evidence_disease\": \"Her2-receptor negative breast cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"INNER_CIV4559\",\n \"pubmed_id\": 25672916,\n \"details\": \"CIVIC EID714 Level B | Rating 3\",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"All three patients with PTEN loss had benefit from adding Buparlisib to carboplatin+paclitaxel therapy in a phase I study in advanced solid cancers.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Alkylating agent, Chemotherapeutic agent\",\n \"outcome\": true,\n \"trade_name\": \"Paraplatin\",\n \"name\": \"Carboplatin\",\n \"details_url\": \"https://civicdb.org/evidence/714\",\n \"responsive\": true,\n \"evidence_url\": \"https://civicdb.org/evidence/714\",\n \"evidence_disease\": \"Cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"CIVIC\",\n \"pubmed_ids\": [\n 25672916\n ],\n \"evidence_genes\": [\n \"PTEN\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 7,\n \"end\": 7\n },\n \"num_exons_in_transcript\": 9,\n \"clinvar_id\": [\n \"142259\"\n ],\n \"gnomad_aggregated\": 0.000003977218511863612,\n \"variant_drugs\": [\n {\n \"name\": \"Capivasertib\",\n \"fda\": \"C\",\n \"nccn\": \"-\"\n },\n {\n \"name\": \"Carboplatin\",\n \"fda\": \"-\",\n \"nccn\": \"-\"\n }\n ],\n \"alt\": \"TA\",\n \"ref\": \"T\",\n \"variant_quality\": 19568.8,\n \"ref_depth\": 594,\n \"alt_depth\": 1371,\n \"cosmic_ids\": [\n \"COSV64288676\"\n ],\n \"dbsnp\": \"rs587782341\",\n \"somatic_interpretation_text\": \"p.Pro248Thrfs*5, a frameshift variant in the PTEN, a tumor suppressor gene.
The variant resides within the PTEN_C2 domain.
The variant was reported in COSMIC (COSV64288676) and ClinVar (142259).
The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1966,\n \"gene_coverage_data\": {\n \"percent_covered\": \"91.89\",\n \"average_coverage\": \"1501.60\",\n \"median_coverage\": 1264,\n \"max_coverage\": 4281,\n \"min_coverage\": 10\n },\n \"hgvs_p_single_letter\": \"p.P248Tfs*5\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 0,\n \"same_ref_alt_amino_acid_count\": 0\n },\n \"oncogenic_classification\": \"Oncogenic\",\n \"oncogenic_classification_display_name\": \"Oncogenic\"\n },\n {\n \"id\": \"chr3:37038113-37038114:b82dcc042094304f4e19b317fbd69c16\",\n \"chr\": \"chr3\",\n \"gene\": \"MLH1\",\n \"vaf\": \"7.12\",\n \"drugs\": [\n {\n \"id\": \"FDA531\",\n \"details\": \"FDA FDA531 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA442\",\n \"details\": \"FDA FDA442 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"hgvs_c\": \"c.-168-1G>T\",\n \"hgvs_p\": \"\",\n \"coverage\": 1179,\n \"position\": 37038114,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"c.-168-1G>T, a variant in the MLH1, a tumor suppressor gene.The variant resides within the HATPase_c, HATPase_c_3 domains.The variant was reported in COSMIC (COSV99212419) and ClinVar (1752818).The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"c.-168-1G>T | NM_001354620.2 | CHR3: 37038114 None | VAF: 7.12% | Coverage: 1179 | COSMIC ID: COSV99212419 | ClinVar ID: RCV002353985, RCV003103288\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"MutL Homolog 1 (MLH1), is a tumor suppressor that is a DNA mismatch repair protein, and is associated with microsatellite instability (MSI) and genomic stability. Germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome. Somatic mutations in MLH1 occur in multiple tissue types, but are most common in a specific subset of sporadic colon, gastric and endometrial cancers. MLH1 promoter hypermethylation, resulting in MLH1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers. Defects in the MMR pathway have been associated with improved response to radiotherapy, chemotherapy and immunotherapy.\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_001354620.2\",\n \"variant_id\": \"chr3:37038113-37038114:b82dcc042094304f4e19b317fbd69c16\",\n \"classification\": \"TIER_2\",\n \"responsive_drugs\": [\n \"Talazoparib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 37038114,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"Medium\",\n \"responsive\": [\n {\n \"id\": \"FDA531\",\n \"details\": \"FDA FDA531 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA442\",\n \"details\": \"FDA FDA442 \",\n \"positive\": true,\n \"selected\": true,\n \"description\": \"FDA-Approved talazoparib is indicated in combination with enzalutamide for the treatment of adult patients with homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC). Select patients for the treatment of HRR gene-mutated mCRPC with talazoparib based on the presence of HRR gene mutations (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, or RAD51C).\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"PARP inhibitor\",\n \"outcome\": true,\n \"trade_name\": \"Talzenna\",\n \"name\": \"Talazoparib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf.htm\",\n \"responsive\": true,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/211651s010lbl.pdf\",\n \"evidence_disease\": \"metastatic prostate carcinoma\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"MLH1\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 19,\n \"clinvar_id\": [\n \"1752818\"\n ],\n \"variant_drugs\": [\n {\n \"name\": \"Talazoparib\",\n \"fda\": \"C\",\n \"nccn\": \"-\"\n }\n ],\n \"alt\": \"T\",\n \"ref\": \"G\",\n \"variant_quality\": 303.006,\n \"ref_depth\": 1095,\n \"alt_depth\": 84,\n \"cosmic_ids\": [\n \"COSV99212419\"\n ],\n \"dbsnp\": \"\",\n \"somatic_interpretation_text\": \"c.-168-1G>T, a variant in the MLH1, a tumor suppressor gene.
The variant resides within the HATPase_c, HATPase_c_3 domains.
The variant was reported in COSMIC (COSV99212419) and ClinVar (1752818).
The variant was classified as a Tier 2 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1179,\n \"gene_coverage_data\": {\n \"percent_covered\": \"98.77\",\n \"average_coverage\": \"2148.91\",\n \"median_coverage\": 1971,\n \"max_coverage\": 5370,\n \"min_coverage\": 22\n },\n \"hgvs_p_single_letter\": \"\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 0,\n \"same_ref_alt_amino_acid_count\": 0\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\"\n },\n {\n \"id\": \"chr12:25398283-25398284:4f0e45ad7e8b66423281ee15776a01de\",\n \"chr\": \"chr12\",\n \"gene\": \"KRAS\",\n \"vaf\": \"12.17\",\n \"drugs\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Fruquintinib\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"4.056257694173837E-6\",\n \"hgvs_c\": \"c.35G>A\",\n \"hgvs_p\": \"p.Gly12Asp\",\n \"coverage\": 1989,\n \"position\": 25398284,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"KRAS G12D mutation falls within a hotspot of the KRAS gene, and results in a loss of GTPase activity, which in turn leads to a constitutively active form of KRAS . The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Gly12Asp | c.35G>A | NM_004985.5 | CHR12: 25398284 None | VAF: 12.17% | Coverage: 1989 | COSMIC ID: COSV55865099;COSV55497369;COSM25877 | rs121913529 | ClinVar ID: RCV000272938, RCV000144969, RCV002508117, RCV000548006, RCV005007840, RCV004018620, RCV000856666, RCV000144970, RCV000022799, RCV004668724, RCV001799604, RCV000150897, RCV000029214, RCV000585796, RCV000150896, RCV004554600, RCV005251035, RCV003327361, RCV000029215, RCV000433573, RCV000662266, RCV000013411, RCV001839445\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"KRAS proto-oncogene (KRAS), is a member of the small GTPase superfamily and a key regulator of PI3K and MAPK oncogenic pathways, playing a role in cell proliferation regulation. KRAS mutations including G12D, G12V, G12C, G12A, G12S, G12R, G13D, G13C, and Q61H are identified in a variety of cancers, including non-small cell lung cancer, pancreatic, endometrial, ovarian, biliary and colorecta. Germline KRAS mutations cause cardio-facio-cutaneous (CFC) syndrome and associate with Noonan syndrome (NS)\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_004985.5\",\n \"variant_id\": \"chr12:25398283-25398284:4f0e45ad7e8b66423281ee15776a01de\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT5737706\",\n \"brief_title\": \"Study of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" A Phase 1/2 study of MRTX1133 in solid tumors harboring a KRAS G12D mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Advanced Solid Tumor|Pancreatic Adenocarcinoma|Colo-rectal Cancer|Solid Tumor|Non-small Cell Lung Cancer\",\n \"interventions\": \"DRUG: MRTX1133\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"1133-001\",\n \"start_date\": \"March 2023\",\n \"primary_completion_date\": \"August 2026\",\n \"completion_date\": \"August 2026\",\n \"first_posted\": \"February 2023\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|START Midwest, Grand Rapids, Michigan, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|Sarah Cannon Research Institute at Florida Cancer Specialists, Orlando, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05737706\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5311709\",\n \"brief_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"official_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"brief_summary\": \" A single-arm, multicentre trial to investigate sotorasib in KRASG12C-mutated non-small cell\\r lung cancer stage III/IV not amenable for curative treatment including patients with\\r comorbidities, and to provide translational knowledge regarding mechanism of relapse and\\r differences in responses, including differences among patients with different co-occurring\\r mutations.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer, Lung|Lung Cancer|Cancer|NSCLC Stage IV|Mutation|NSCLC, Stage III|Lung Cancer Stage IV\",\n \"interventions\": \"DRUG: sotorasib\",\n \"collaborators\": \"Other: University Hospital of North Norway|Other: St. Olavs Hospital|Other: Rigshospitalet, Denmark|Other: Oslo University Hospital|Other: Aarhus University Hospital|Other: Haukeland University Hospital|Other: Odense University Hospital|Other: Karolinska University Hospital\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Vestre Viken Hospital Trust\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"SOLUCOM\",\n \"start_date\": \"May 2022\",\n \"primary_completion_date\": \"October 2024\",\n \"completion_date\": \"March 2025\",\n \"first_posted\": \"April 2022\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Vestre Viken Health Trust, Drammen, Viken, Norway\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05311709\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"Norway\"\n ]\n },\n {\n \"nct_number\": \"NCT6166836\",\n \"brief_title\": \"a Study to Evaluate the Safety and Efficacy of D-1553 Combined With IN10018 in KRAS G12C Mutant Solid Tumors\",\n \"official_title\": \"A Phase 1b/II, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of D-1553 Combined With IN10018 in Subjects With Locally Advanced or Metastatic Solid Tumors With KRAS G12C Mutation\",\n \"brief_summary\": \" This is a phase 1b/II, open-label study to evaluate the safety, tolerability,\\r pharmacokinetics and antitumor activities of D-1553 in combination with IN10018 in subjects\\r with locally advanced or metastatic solid tumor with KRAS G12C mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: IN10018（Ifebemtinib）|DRUG: D1553\",\n \"collaborators\": \"Industry: InventisBio Co., Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: InxMed (Shanghai) Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"D1553-106/IN10018-602\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"December 2023\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"First Affiliated Hospital of Bengbu Medical College, Bengbu, China|Renmin Hospital of Wuhan University, Wuhan, China|Fujian Cancer Hospital, Fuzhou, China|The first Affiliated Hospital of Zhengzhou University, Zhengzhou, China|Hunan Cancer Hospital, Changsha, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06166836\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5485974\",\n \"brief_title\": \"A Dose Escalation Study of HBI-2438 in Patients With Solid Tumors Harboring KRAS G12C Mutation\",\n \"official_title\": \"A Phase 1, Open Label, Dose Escalation of HBI-2438 in Patients With Advanced Malignant Solid Tumors Harboring KRAS G12C Mutation\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS G12C\\r mutation to determine the maximum tolerated dose and recommended Phase II dose of HBI-2438\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colon Cancer|Cancer of Pancreas|Lung Cancer|Non Small Cell Lung Cancer|Cancer|Colorectal Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: HBI-2438\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2438-101\",\n \"start_date\": \"August 2022\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"August 2025\",\n \"first_posted\": \"August 2022\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"The Oncology Institute of Hope and Innovation, Pasadena, California, United States|Alliance for Multispecialty Research, LLC, Kansas City, Missouri, United States|Michigan Center of Medical Research, Farmington Hills, Michigan, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Innovative Clinical Research Institute (ICRI), Whittier, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05485974\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT5887492\",\n \"brief_title\": \"Study of TNG260 and an Anti-PD Antibody in STK11 Mutated Solid Tumors\",\n \"official_title\": \"A Phase 1/2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of TNG260 as Single Agent and in Combination With an Anti-PD-1 Antibody In Patients With STK11 Mutated Advanced Solid Tumors\",\n \"brief_summary\": \" The goal of this interventional clinical trial is to learn about TNG260, a CoREST inhibitor,\\r in combination with pembrolizumab in patients with advanced solid tumors with a known STK11\\r mutation.\\r \\r The main question[s] it aims to answer are:\\r \\r - the recommended dose for Phase 2\\r \\r - to evaluate the safety and tolerability of the combination therapy\\r \\r - to determine the pharmacokinetics of TNG260\\r \\r - to evaluate the initial antineoplastic activity\\r \\r Participants will receive study treatment until they experience an undesirable side effect,\\r their disease progresses or until they withdraw consent.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumors, Adult|Carcinoma of Unknown Primary|Breast Cancer|Cervical Cancer|Endometrial Cancer|Pancreatic Cancer\",\n \"interventions\": \"DRUG: TNG260|DRUG: Pembrolizumab\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Tango Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"TNG260-C101\",\n \"start_date\": \"June 2023\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"June 2023\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"New York University Langone Health, New York, New York, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|SCRI at HealthOne, Denver, Colorado, United States|Sarah Cannon Tennessee Oncology, Nashville, Tennessee, United States|Florida Cancer Specialists, Sarasota, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05887492\",\n \"genes\": [\n \"KRAS\",\n \"STK11\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5382559\",\n \"brief_title\": \"A Study of ASP3082 in Adults With Previously Treated Solid Tumors\",\n \"official_title\": \"A Phase 1 Study of ASP3082 in Participants With Previously Treated Locally Advanced or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Many types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors. ASP3082 is a potential\\r new treatment for solid tumors in people who have the G12D mutation in their KRAS gene.\\r Before ASP3082 is available as a treatment, the researchers need to understand how it is\\r processed by and acts upon the body. This information will help find a suitable dose and to\\r check for potential medical problems from the treatment. People in this study will be adults\\r with locally advanced, unresectable or metastatic solid tumors with the G12D mutation in\\r their KRAS gene. Locally advanced means the cancer has spread to nearby tissue. Unresectable\\r means the cancer cannot be removed by surgery. Metastatic means the cancer has spread to\\r other parts of the body. They may have been previously treated with standard therapies. The\\r main aims of the study are: to check the safety of ASP3082 by itself and together with\\r cetuximab or chemotherapy, and how well it is tolerated, and to find a suitable dose of\\r ASP3082 by itself and together with cetuximab or chemotherapy. This is an open-label study.\\r This means that people in this study and clinic staff will know that they will receive\\r ASP3082. This study will be in 2 parts. In Part 1, different small groups of people will\\r receive lower to higher doses of ASP3082, by itself, or together with cetuximab. Any medical\\r problems will be recorded at each dose. This is done to find suitable doses of ASP3082, by\\r itself or together with cetuximab to use in Part 2 of the study. The first group will receive\\r the lowest dose of ASP3082. A medical expert panel will check the results from this group and\\r decide if the next group can receive a higher dose of ASP3082. The panel will do this for\\r each group until all groups have received ASP3082 (by itself or together with cetuximab) or\\r until suitable doses have been selected for Part 2. In Part 2, other different small groups\\r of people will receive ASP3082 by itself or together with cetuximab or chemotherapy, with the\\r most suitable doses worked out from Part 1. This will help find a more accurate dose of\\r ASP3082 to use in future studies. ASP3082 (cetuximab or chemotherapy if used), will be given\\r through a vein. This is called an infusion. Each treatment cycle is 21 or 28 days long.\\r People will continue treatment until: they have medical problems from the treatment they\\r can't tolerate; their cancer gets worse; they start other cancer treatment; or they ask to\\r stop treatment. At some visits, other checks will include a medical examination,\\r echocardiogram (ECHO) or multigated acquisition (MUGA) scan, blood and urine tests and vital\\r signs. Vital signs include temperature, pulse, breathing rate, and blood pressure. (Blood\\r oxygen levels will also be checked for people treated with ASP3082 together with cetuximab or\\r chemotherapy.) Tumor samples will be taken during certain visits during treatment and when\\r treatment has finished. People will visit the clinic on certain days during their treatment,\\r with extra visits during the first 2 cycles of treatment. The study doctors will check for\\r any medical problems from ASP3082 by itself or together with cetuximab or chemotherapy. At\\r some visits, other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, blood and urine tests and vital signs. Vital signs\\r include temperature, pulse, breathing rate, and blood pressure. (Blood oxygen levels will\\r also be checked for people treated with ASP3082 together with cetuximab or chemotherapy.)\\r Tumor samples will be taken during certain visits during treatment and when treatment has\\r finished. People will visit the clinic within 7 days after stopping treatment. The study\\r doctors will check for any medical problems from ASP3082 by itself or together with cetuximab\\r or chemotherapy. Other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, urine and blood tests and vital signs. After this, people\\r will continue to visit the clinic every 9 weeks to check the condition of their cancer. They\\r will do this until 45 weeks after treatment stopped, or if their cancer is worse, they start\\r other cancer treatment, or they ask to stop treatment. Also, people may visit the clinic at\\r 30 days and 90 days after stopping treatment. At the 30-day visit, the study doctors will\\r check for any medical problems from ASP3082 by itself or together with cetuximab or\\r chemotherapy. People will have their vital signs checked and have some blood tests. At the\\r 90-day visit, the study doctors will check for any medical problems from ASP3082 by itself or\\r together with cetuximab or chemotherapy and people will have their vital signs checked.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: Cetuximab|DRUG: Chemotherapy 2|DRUG: Chemotherapy 1|DRUG: ASP3082\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"jRCT2031220738|3082-CL-0101\",\n \"start_date\": \"June 2022\",\n \"primary_completion_date\": \"October 2026\",\n \"completion_date\": \"October 2026\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Florida Cancer Specialists & Research Institute Sarasota, Sarasota, Florida, United States|Columbia University - Herbert Irving Comprehensive Cancer Center, New York, New York, United States|University of Kansas Medical Center, Westwood, Kansas, United States|Shizuoka Cancer Center, Sunto-gun, Shizuoka, Japan\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05382559\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Japan\",\n \"France\"\n ]\n },\n {\n \"nct_number\": \"NCT6237413\",\n \"brief_title\": \"A Study of ZG2001 in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"official_title\": \"A Phase I/II Dose Escalation Study to Evaluating the Tolerability, Safety, Efficacy and Pharmacokinetics of ZG2001 Tosilate Tablets in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"brief_summary\": \" This study will evaluate the tolerability, safety, effects, and pharmacokinetics of ZG2001 in\\r Participants with advanced solid tumors that have a KRAS mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: ZG2001 Tosilate Tablets\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Suzhou Zelgen Biopharmaceuticals Co.,Ltd\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"ZG2001-001\",\n \"start_date\": \"August 2023\",\n \"primary_completion_date\": \"February 2026\",\n \"completion_date\": \"February 2026\",\n \"first_posted\": \"February 2024\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Chinese PLA General Hospital, Beijing, Beijing, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06237413\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT6105021\",\n \"brief_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"official_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"brief_summary\": \" This study is open to adult patients with solid tumors who have a KRAS G12V mutation. This\\r mutation is often found in non-small cell lung cancer (NSCLC), colorectal cancer (CRC),\\r pancreatic ductal adenocarcinoma (PDAC) and other cancers. The study is for patients whose\\r cancer has spread through the body and for whom previous treatments were not successful or\\r treatment does not exist. Patients must also be positive for HLA-A*11:01. The purpose of this\\r study is to find the best dose of AFNT-211 that is safe and can shrink tumors in patients.\\r AFNT-211 is an investigational therapy and this is the first time that AFNT-211 is being\\r administered to patients. AFNT-211 is an autologous T cell product which means that it is\\r made from a patient's own T cells. These cells are engineered and grown to recognize the KRAS\\r G12V protein on the cell surface of cancer cells. AFNT-211 is infused into patients after a\\r short course of lymphodepleting chemotherapy. Patients will frequently visit the study site.\\r The doctors there will regularly check the size of the cancer and the patient's health. They\\r will also take note of any unwanted effects. Patients may continue in this study for as long\\r as they benefit from the treatment.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non-Small Cell Lung Cancer|Colorectal Cancer|Solid Tumor|Pancreatic Ductal Adenocarcinoma|KRAS G12V\",\n \"interventions\": \"DRUG: AFNT-211\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Affini-T Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"AFNT211-22-101\",\n \"start_date\": \"March 2024\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2029\",\n \"first_posted\": \"October 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Providence Cancer Institute Franz Clinic, Portland, Oregon, United States|Memorial Sloan Kettering Cancer Center, New York, New York, United States|University of California Los Angeles Department of Medicine, Los Angeles, California, United States|Sarah Cannon Research Institute, Nashville, Tennessee, United States|Laura & Isaac Perlmutter Cancer Center at NYU Langone Health, New York, New York, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06105021\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4720976\",\n \"brief_title\": \"JAB-3312 Based Combination Therapy in Adult Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase 1/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Evidence of Antitumor Activity of JAB-3312 Based Combination Therapies in Adult Patients With Advanced Solid Tumors\",\n \"brief_summary\": \" To evaluate the safety and tolerability of JAB-3312 administered in investigational regimens\\r in adult participants with advanced solid tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"NSCLC|Solid Tumor\",\n \"interventions\": \"DRUG: JAB-3312|DRUG: Sotorasib|DRUG: Osimertinib|DRUG: Pembrolizumab|DRUG: Binimetinib\",\n \"collaborators\": \"Industry: AbbVie\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Jacobio Pharmaceuticals Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"JAB-3312-1003\",\n \"start_date\": \"March 2021\",\n \"primary_completion_date\": \"January 2024\",\n \"completion_date\": \"February 2024\",\n \"first_posted\": \"January 2021\",\n \"last_update_posted\": \"May 2023\",\n \"locations\": \"Research Site, Los Angeles, California, United States|Research Site, Houston, Texas, United States|Research Site, Orange City, Florida, United States|Research Site, Jacksonville, Florida, United States|Research Site, Oklahoma City, Oklahoma, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04720976\",\n \"genes\": [\n \"KRAS\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT6403735\",\n \"brief_title\": \"A Phase I Clinical Study of QLC1101 in Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase I Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of QLC1101 Monotherapy in the Treatment of Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" QLC1101 is a selective reversible inhibitor of KRAS G12D, with the dosage form of capsules\\r and administration route of oral administration. In the first-in-humans (FIH) study, the\\r sponsor will explore the safety, tolerability, pharmacokinetics (PK), and preliminary\\r efficacy of QLC1101 in subjects with advanced solid tumors harboring a KRAS G12D mutation.\\r The FIH study includes dose escalation, PK expansion, and efficacy expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colorectal Cancer|Pancreatic Cancer|Non-small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: QLC1101\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Qilu Pharmaceutical Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"QLC1101-101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"May 2026\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"May 2024\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Harbin Medical university cancer hospital, Ha'erbin, Heilongjiang, China|Yunnan Cancer Hospital, Kunming, Yunnan, China|Shanghai east hospital, Shanghai, Shanghai, China|Jiangxi Cancer Hospital, Nanchang, Jiangxi, China|The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, Guangdong, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06403735\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5163028\",\n \"brief_title\": \"A Dose Escalation Study of SHP2 Inhibitor in Patients With Solid Tumors Harboring KRAS of EGFR Mutations\",\n \"official_title\": \"A Phase 1, Open-Label, Dose Escalation of HBI-2376 in Patients With Advanced Malignant Solid Tumors Harboring KRAS or EGFR Mutations\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS or EGFR\\r mutations to determine the maximum tolerated dose and recommended Phase II dose of HBI-2376\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer of Pancreas|Non Small Cell Lung Cancer|Cancer|Cancer of Colon|Colorectal Cancer|Solid Tumor|Pancreatic Cancer\",\n \"interventions\": \"DRUG: HBI-2376\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2376-101\",\n \"start_date\": \"December 2021\",\n \"primary_completion_date\": \"December 2024\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"December 2021\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"Providence Medical Foundation, Fullerton, California, United States|Orlando Health, Inc., Orlando, Florida, United States|Virginia Cancer Specialists, Fairfax, Virginia, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Texas Oncology - Tyler, Tyler, Texas, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05163028\",\n \"genes\": [\n \"EGFR\",\n \"PTPN11\",\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6218914\",\n \"brief_title\": \"A Study of NT-112 in HLA-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/ or Metastatic Solid Tumors Positive for the KRAS G12D Mutation\",\n \"official_title\": \"An Open-label, Phase 1, Multicenter Study to Evaluate the Safety and Preliminary Anti-tumor Activity of NT-112 in Human Leukocyte Antigen-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/or Metastatic Solid Tumors That Are Positive for the KRAS G12D Mutation\",\n \"brief_summary\": \" Phase I Study of NT-112, an autologous T-cell therapy product genetically engineered to\\r express an HLA-C*08:02-restricted T cell receptor (TCR), targeting KRAS G12D mutant solid\\r tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"KRAS G12D|Colorectal Carcinoma|Non-small Cell Lung Cancer|Endometrial Cancer|Solid Tumor, Adult|Pancreatic Ductal Adenocarcinoma\",\n \"interventions\": \"BIOLOGICAL: NT-112: Autologous, engineered T Cells targeting KRAS G12D\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Neogene Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NT-112-301\",\n \"start_date\": \"February 2024\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"January 2040\",\n \"first_posted\": \"January 2024\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Sarah Cannon Research Institute, Nashville, Tennessee, United States|NYU Langone Health, New York, New York, United States|Hoag Hospital Newport Beach, Newport Beach, California, United States|City of Hope, Duarte, California, United States|UCLA Health Jonsson Comprehensive Cancer Center, Los Angeles, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06218914\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5375084\",\n \"brief_title\": \"SHP2 Inhibitor BBP-398 in Combination With Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"official_title\": \"A Phase 1 Study of the SHP2 Inhibitor BBP-398 (Formerly Known as IACS-15509) in Combination With the Programmed Death Receptor-1 Blocking Antibody Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"brief_summary\": \" This is a Phase 1 study of BBP-398, a SHP2 inhibitor, in combination with nivolumab, a PD-1\\r antibody, in patients with NSCLC with a KRAS mutation. The study involves 2 parts: Phase 1a\\r Dose Escalation and Phase 1b Dose Expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: BBP-398 with nivolumab\",\n \"collaborators\": \"Industry: Bristol-Myers Squibb\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Navire Pharma Inc., a BridgeBio company\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NAV-1004\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"July 2024\",\n \"completion_date\": \"January 2025\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"February 2024\",\n \"locations\": \"Cleveland Clinic, Cleveland, Ohio, United States|Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, United States|NEXT Oncology, Fairfax, Virginia, United States|Providence Medical Foundation, Santa Rosa, California, United States|Medical University of South Carolina (MUSC) - Hollings Cancer Center, Charleston, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05375084\",\n \"genes\": [\n \"PTPN11\",\n \"KRAS\",\n \"PDCD1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5661201\",\n \"brief_title\": \"NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"official_title\": \"Phase I Study of NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"brief_summary\": \" The goal of this clinical trial is to learn about the safety of NEROFE and doxorubicin and\\r how well it works in patients with advanced/unresectable or metastatic solid KRAS-mutated and\\r ST-positive solid tumors. The main question it aims to answer is to find the recommended dose\\r and scheduled for the combination of NEROFE and doxorubicin. Participants will receive weekly\\r doses of NEROFE and doxorubicin.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: NEROFE|DRUG: Doxorubicin\",\n \"collaborators\": \"Industry: Immune System Key Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Other: Georgetown University\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"STUDY00005711\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"January 2026\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"December 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Georgetown Lombardi Comprehensive Cancer Center, Washington, District of Columbia, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05661201\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5578092\",\n \"brief_title\": \"A Phase 1/2 Study of MRTX0902 in Solid Tumors With Mutations in the KRAS MAPK Pathway\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of the SOS1 Inhibitor MRTX0902 in Patients With Advanced Solid Tumors Harboring Mutations in the KRAS MAPK Pathway\",\n \"brief_summary\": \" This is a Phase 1/2, open-label, multicenter, study evaluating the safety, tolerability, PK,\\r PD, and anti-tumor activity of MRTX0902 alone and in combination with MRTX849 (adagrasib) in\\r patients with advanced solid tumor malignancy harboring mutations in the KRAS-MAPK pathways.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor|Advanced Solid Tumor|Colo-rectal Cancer\",\n \"interventions\": \"DRUG: MRTX0902|DRUG: MRTX849\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"0902-001\",\n \"start_date\": \"November 2022\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"July 2026\",\n \"first_posted\": \"October 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Seattle Cancer Care Alliance, Seattle, Washington, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|Denver Drug Development Unit - HealthONE, Denver, Colorado, United States|Pan America center for Oncology Trials LLC, Rio Piedras, Puerto Rico\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05578092\",\n \"genes\": [\n \"KRAS\",\n \"SOS1\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6364696\",\n \"brief_title\": \"A Study to Find a Suitable Dose of ASP4396 in Adults With Solid Tumors\",\n \"official_title\": \"An Open-label Phase 1 Study of ASP4396 in Participants With Locally Advanced (Unresectable) or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Some types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors.\\r \\r ASP4396 is being developed as a potential new treatment for solid tumors in people who have\\r the G12D mutation in their KRAS gene. ASP4396 is not currently available as a treatment for\\r the public. In this study, researchers will learn how ASP4396 is processed by and acts upon\\r the body. This information will help find a suitable dose and to check for potential medical\\r problems from ASP4396.\\r \\r In this study, ASP4396 is being given to humans for the first time.\\r \\r People in this study will be adults with locally advanced (unresectable), or metastatic solid\\r tumors with the G12D mutation in their KRAS gene. Locally advanced means the cancer has\\r spread to nearby tissue. Unresectable means the cancer cannot be removed by surgery.\\r Metastatic means the cancer has spread to other parts of the body. They may have been\\r previously treated with standard therapies or refused to receive those treatments.\\r \\r The main aims of the study are to check the safety of ASP4396, how well people cope with\\r medical problems during the study (how well it is tolerated), and to find a suitable dose of\\r ASP4396.\\r \\r This is an open-label study. This means that people in this study and clinic staff will know\\r that they will receive ASP4396.\\r \\r This study will be in 2 parts.\\r \\r Part 1 is called Dose Escalation. Different small groups of people will receive lower to\\r higher doses of ASP4396. For each dose, all medical problems will be recorded. The first\\r group will receive the lowest dose of ASP4396. A medical expert panel will check the results\\r and decide if the next group can receive a higher dose of ASP4396. The panel will do this\\r until all groups have taken ASP4396 or until suitable doses have been selected for Part 2.\\r \\r Part 2 is called Dose Expansion. Other different small groups of people will receive ASP4396\\r with the most suitable doses worked out from Part 1. This will help find a more accurate dose\\r of ASP4396 to use in future studies.\\r \\r In both parts of the study, ASP4396 will be given through a vein. This is called an infusion.\\r Each treatment cycle is 21 days long. People will continue treatment until: they have medical\\r problems from the treatment they can't cope with (can't tolerate); their cancer gets worse;\\r they start other cancer treatment; or they ask to stop treatment.\\r \\r People will visit the clinic on certain days during their treatment, with extra visits during\\r the first 2 cycles of treatment. The study doctors will check for any medical problems from\\r ASP4396. Also, people in the study will have a health check including blood tests. On some\\r visits they will also have scans to check for any changes in their cancer. Tumor samples will\\r be taken at certain visits during treatment with the option of a tumor sample being taken\\r after treatment has finished.\\r \\r People will visit the clinic about 7 days after they stop treatment. They will be asked about\\r any medical problems and will have a health check including blood tests.\\r \\r After this, people will visit the clinic for a health check several times. The number of\\r visits and checks done at each visit will depend on the health of each person and whether\\r they completed their treatment or not.\\r \\r After treatment has finished, people in the study will be followed up for up to 45 weeks.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: ASP4396\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"4396-CL-0101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"April 2027\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"April 2024\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"NEXT Oncology Dallas, Irving, Texas, United States|NEXT Oncology Virginia, Fairfax, Virginia, United States|START Midwest, Grand Rapids, Michigan, United States|START Mountain Region, West Valley City, Utah, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06364696\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4249843\",\n \"brief_title\": \"Study of Safety, Pharmacokinetics, and Antitumor Activity of BGB-3245 in Participants With Advanced or Refractory Tumors\",\n \"official_title\": \"A First-in-Human, Phase 1a/1b, Open Label, Dose-Escalation and Expansion Study to Investigate the Safety, Pharmacokinetics, and Antitumor Activity of the RAF Dimer Inhibitor BGB-3245 in Patients With Advanced or Refractory Tumors\",\n \"brief_summary\": \" The purpose of this study is to evaluate the safety, tolerability, and antitumor activity of\\r BGB-3245 in participants with advanced or refractory solid tumors\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"B-Raf Mutation-Related Tumors|Solid Tumor\",\n \"interventions\": \"DRUG: BGB-3245\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: MapKure, LLC\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BGB-3245-AU-001\",\n \"start_date\": \"February 2020\",\n \"primary_completion_date\": \"August 2024\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"January 2020\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|One Clinical Research, Nedlands, Perth, Australia|MD Anderson, Houston, Texas, United States|The Kinghorn Cancer Centre, St Vincent Hospital Sydney, Sydney, New South Wales, Australia\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04249843\",\n \"genes\": [\n \"KRAS\",\n \"NRAS\",\n \"BRAF\"\n ],\n \"countries\": [\n \"United States\",\n \"Australia\"\n ]\n },\n {\n \"nct_number\": \"NCT5786924\",\n \"brief_title\": \"A Study of BDTX-4933 in Patients With KRAS, BRAF and Select RAS/MAPK Mutation-Positive Cancers\",\n \"official_title\": \"A Phase 1, Open-label Study of Oral BDTX-4933 in Patients With KRAS, BRAF and Other Select RAS/MAPK Mutation Positive Neoplasms\",\n \"brief_summary\": \" BDTX-4933-101 is a first-in-human, open-label, Phase 1 dose escalation and an expansion\\r cohort study designed to evaluate the safety and tolerability, maximum tolerated dose (MTD)\\r and the preliminary recommended Phase 2 dose (RP2D), and antitumor activity of BDTX-4933. The\\r study population for the Dose Escalation part of the study comprises adults with recurrent\\r advanced/metastatic non-small cell lung cancer (NSCLC) harboring KRAS non-G12C mutations or\\r BRAF mutations, advanced/metastatic melanoma harboring BRAF or NRAS mutations, histiocytic\\r neoplasms harboring BRAF or NRAS mutations, and other solid tumors harboring BRAF mutations.\\r The study population for the Dose Expansion part of the study comprises adults with recurrent\\r advanced/metastatic NSCLC harboring KRAS non-G12C mutations. All patients will\\r self-administer BDTX-4933 orally in 28-day cycles until disease progression, toxicity,\\r withdrawal of consent, or termination of the study.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Thyroid Carcinoma|Melanoma (Skin)|Histiocytic Neoplasm|BRAF V600E|BRAF Gene Mutation|Histiocytosis|KRAS Mutation-Related Tumors|KRAS G12D|Metastatic Lung Cancer|Recurrent NSCLC|Recurrent Lung Cancer|Metastatic Lung Non-Small Cell Carcinoma|Melanoma|Colorectal Carcinoma|Solid Carcinoma|NSCLC|NRAS Gene Mutation|Recurrent Lung Non-Small Cell Carcinoma|Recurrent Melanoma|Brain Metastases|KRAS G13C|Colorectal Cancer|Solid Tumor|Thyroid Cancer|BRAF|Metastatic Melanoma|Non-small Cell Lung Cancer|Recurrent Histiocytic and Dendritic Cell Neoplasm|BRAF V600 Mutation|KRAS G12V|BRAF Mutation-Related Tumors\",\n \"interventions\": \"DRUG: BDTX-4933\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Black Diamond Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BDTX-4933-101\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"March 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Dana-Farber Cancer Institute, Boston, Massachusetts, United States|NEXT Virginia, Fairfax, Virginia, United States|University of Colorado - Aurora Cancer Center, Aurora, Colorado, United States|Banner Health- MD Anderson Cancer Center, Gilbert, Arizona, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05786924\",\n \"genes\": [\n \"KRAS\",\n \"BRAF\",\n \"NRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"resistant_drugs\": [\n \"Panitumumab\",\n \"Tucatinib\",\n \"Fruquintinib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 25398284,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"resistant\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 5,\n \"clinvar_id\": [\n \"12582\"\n ],\n \"gnomad_aggregated\": 0.000004010781140095787,\n \"alt\": \"T\",\n \"ref\": \"C\",\n \"internal_frequency\": 97,\n \"variant_quality\": 9731.01,\n \"ref_depth\": 1137,\n \"alt_depth\": 242,\n \"cosmic_ids\": [\n \"COSV55865099;COSV55497369;COSM25877\"\n ],\n \"dbsnp\": \"rs121913529\",\n \"somatic_interpretation_text\": \"KRAS G12D mutation falls within a hotspot of the KRAS gene, and results in a loss of GTPase activity, which in turn leads to a constitutively active form of KRAS . The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1989,\n \"gene_coverage_data\": {\n \"percent_covered\": \"100.00\",\n \"average_coverage\": \"3413.22\",\n \"median_coverage\": 2890,\n \"max_coverage\": 6258,\n \"min_coverage\": 710\n },\n \"hgvs_p_single_letter\": \"p.G12D\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 2175,\n \"same_ref_alt_amino_acid_count\": 757\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\",\n \"user_annotations\": [\n {\n \"name\": \"Oncomine Hotspot\",\n \"value\": \"\"\n }\n ]\n },\n {\n \"id\": \"chr12:25398281-25398282:93403b8bff10d6150207602eb248c457\",\n \"chr\": \"chr12\",\n \"gene\": \"KRAS\",\n \"vaf\": \"30.67\",\n \"drugs\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Fruquintinib\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"explicitly_in_report\": true\n }\n ],\n \"allele\": \"0.0\",\n \"hgvs_c\": \"c.37G>T\",\n \"hgvs_p\": \"p.Gly13Cys\",\n \"coverage\": 1989,\n \"position\": 25398282,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"p.Gly13Cys, a non synonymous variant in the KRAS, an oncogene.The variant resides within the Ras, Arf, Roc, MMR_HSR1 domains.The variant was reported in COSMIC (COSM4169642,COSV55538079,COSV55497378) and ClinVar (45123).The variant was classified as a Tier 1 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"p.Gly13Cys | c.37G>T | NM_004985.5 | CHR12: 25398282 None | VAF: 30.67% | Coverage: 1989 | COSMIC ID: COSM4169642;COSV55538079;COSV55497378 | rs121913535 | ClinVar ID: RCV000038268, RCV000144972, RCV000681039, RCV003335071\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"KRAS proto-oncogene (KRAS), is a member of the small GTPase superfamily and a key regulator of PI3K and MAPK oncogenic pathways, playing a role in cell proliferation regulation. KRAS mutations including G12D, G12V, G12C, G12A, G12S, G12R, G13D, G13C, and Q61H are identified in a variety of cancers, including non-small cell lung cancer, pancreatic, endometrial, ovarian, biliary and colorecta. Germline KRAS mutations cause cardio-facio-cutaneous (CFC) syndrome and associate with Noonan syndrome (NS)\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_004985.5\",\n \"variant_id\": \"chr12:25398281-25398282:93403b8bff10d6150207602eb248c457\",\n \"classification\": \"TIER_2\",\n \"clinical_trials\": [\n {\n \"nct_number\": \"NCT5737706\",\n \"brief_title\": \"Study of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of MRTX1133 in Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" A Phase 1/2 study of MRTX1133 in solid tumors harboring a KRAS G12D mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Advanced Solid Tumor|Pancreatic Adenocarcinoma|Colo-rectal Cancer|Solid Tumor|Non-small Cell Lung Cancer\",\n \"interventions\": \"DRUG: MRTX1133\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"1133-001\",\n \"start_date\": \"March 2023\",\n \"primary_completion_date\": \"August 2026\",\n \"completion_date\": \"August 2026\",\n \"first_posted\": \"February 2023\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|START Midwest, Grand Rapids, Michigan, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|Sarah Cannon Research Institute at Florida Cancer Specialists, Orlando, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05737706\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5311709\",\n \"brief_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"official_title\": \"Sotorasib in Advanced KRASG12C-mutated Non-small Cell Lung Cancer Patients With Comorbidities\",\n \"brief_summary\": \" A single-arm, multicentre trial to investigate sotorasib in KRASG12C-mutated non-small cell\\r lung cancer stage III/IV not amenable for curative treatment including patients with\\r comorbidities, and to provide translational knowledge regarding mechanism of relapse and\\r differences in responses, including differences among patients with different co-occurring\\r mutations.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer, Lung|Lung Cancer|Cancer|NSCLC Stage IV|Mutation|NSCLC, Stage III|Lung Cancer Stage IV\",\n \"interventions\": \"DRUG: sotorasib\",\n \"collaborators\": \"Other: University Hospital of North Norway|Other: St. Olavs Hospital|Other: Rigshospitalet, Denmark|Other: Oslo University Hospital|Other: Aarhus University Hospital|Other: Haukeland University Hospital|Other: Odense University Hospital|Other: Karolinska University Hospital\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"TWO\",\n \"funded_by\": \"Other: Vestre Viken Hospital Trust\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"SOLUCOM\",\n \"start_date\": \"May 2022\",\n \"primary_completion_date\": \"October 2024\",\n \"completion_date\": \"March 2025\",\n \"first_posted\": \"April 2022\",\n \"last_update_posted\": \"November 2023\",\n \"locations\": \"Vestre Viken Health Trust, Drammen, Viken, Norway\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05311709\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"Norway\"\n ]\n },\n {\n \"nct_number\": \"NCT6166836\",\n \"brief_title\": \"a Study to Evaluate the Safety and Efficacy of D-1553 Combined With IN10018 in KRAS G12C Mutant Solid Tumors\",\n \"official_title\": \"A Phase 1b/II, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of D-1553 Combined With IN10018 in Subjects With Locally Advanced or Metastatic Solid Tumors With KRAS G12C Mutation\",\n \"brief_summary\": \" This is a phase 1b/II, open-label study to evaluate the safety, tolerability,\\r pharmacokinetics and antitumor activities of D-1553 in combination with IN10018 in subjects\\r with locally advanced or metastatic solid tumor with KRAS G12C mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: IN10018（Ifebemtinib）|DRUG: D1553\",\n \"collaborators\": \"Industry: InventisBio Co., Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: InxMed (Shanghai) Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"D1553-106/IN10018-602\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"December 2023\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"First Affiliated Hospital of Bengbu Medical College, Bengbu, China|Renmin Hospital of Wuhan University, Wuhan, China|Fujian Cancer Hospital, Fuzhou, China|The first Affiliated Hospital of Zhengzhou University, Zhengzhou, China|Hunan Cancer Hospital, Changsha, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06166836\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5485974\",\n \"brief_title\": \"A Dose Escalation Study of HBI-2438 in Patients With Solid Tumors Harboring KRAS G12C Mutation\",\n \"official_title\": \"A Phase 1, Open Label, Dose Escalation of HBI-2438 in Patients With Advanced Malignant Solid Tumors Harboring KRAS G12C Mutation\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS G12C\\r mutation to determine the maximum tolerated dose and recommended Phase II dose of HBI-2438\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colon Cancer|Cancer of Pancreas|Lung Cancer|Non Small Cell Lung Cancer|Cancer|Colorectal Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: HBI-2438\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2438-101\",\n \"start_date\": \"August 2022\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"August 2025\",\n \"first_posted\": \"August 2022\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"The Oncology Institute of Hope and Innovation, Pasadena, California, United States|Alliance for Multispecialty Research, LLC, Kansas City, Missouri, United States|Michigan Center of Medical Research, Farmington Hills, Michigan, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Innovative Clinical Research Institute (ICRI), Whittier, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05485974\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT5887492\",\n \"brief_title\": \"Study of TNG260 and an Anti-PD Antibody in STK11 Mutated Solid Tumors\",\n \"official_title\": \"A Phase 1/2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of TNG260 as Single Agent and in Combination With an Anti-PD-1 Antibody In Patients With STK11 Mutated Advanced Solid Tumors\",\n \"brief_summary\": \" The goal of this interventional clinical trial is to learn about TNG260, a CoREST inhibitor,\\r in combination with pembrolizumab in patients with advanced solid tumors with a known STK11\\r mutation.\\r \\r The main question[s] it aims to answer are:\\r \\r - the recommended dose for Phase 2\\r \\r - to evaluate the safety and tolerability of the combination therapy\\r \\r - to determine the pharmacokinetics of TNG260\\r \\r - to evaluate the initial antineoplastic activity\\r \\r Participants will receive study treatment until they experience an undesirable side effect,\\r their disease progresses or until they withdraw consent.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumors, Adult|Carcinoma of Unknown Primary|Breast Cancer|Cervical Cancer|Endometrial Cancer|Pancreatic Cancer\",\n \"interventions\": \"DRUG: TNG260|DRUG: Pembrolizumab\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Tango Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"TNG260-C101\",\n \"start_date\": \"June 2023\",\n \"primary_completion_date\": \"January 2025\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"June 2023\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"New York University Langone Health, New York, New York, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|SCRI at HealthOne, Denver, Colorado, United States|Sarah Cannon Tennessee Oncology, Nashville, Tennessee, United States|Florida Cancer Specialists, Sarasota, Florida, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05887492\",\n \"genes\": [\n \"KRAS\",\n \"STK11\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5382559\",\n \"brief_title\": \"A Study of ASP3082 in Adults With Previously Treated Solid Tumors\",\n \"official_title\": \"A Phase 1 Study of ASP3082 in Participants With Previously Treated Locally Advanced or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Many types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors. ASP3082 is a potential\\r new treatment for solid tumors in people who have the G12D mutation in their KRAS gene.\\r Before ASP3082 is available as a treatment, the researchers need to understand how it is\\r processed by and acts upon the body. This information will help find a suitable dose and to\\r check for potential medical problems from the treatment. People in this study will be adults\\r with locally advanced, unresectable or metastatic solid tumors with the G12D mutation in\\r their KRAS gene. Locally advanced means the cancer has spread to nearby tissue. Unresectable\\r means the cancer cannot be removed by surgery. Metastatic means the cancer has spread to\\r other parts of the body. They may have been previously treated with standard therapies. The\\r main aims of the study are: to check the safety of ASP3082 by itself and together with\\r cetuximab or chemotherapy, and how well it is tolerated, and to find a suitable dose of\\r ASP3082 by itself and together with cetuximab or chemotherapy. This is an open-label study.\\r This means that people in this study and clinic staff will know that they will receive\\r ASP3082. This study will be in 2 parts. In Part 1, different small groups of people will\\r receive lower to higher doses of ASP3082, by itself, or together with cetuximab. Any medical\\r problems will be recorded at each dose. This is done to find suitable doses of ASP3082, by\\r itself or together with cetuximab to use in Part 2 of the study. The first group will receive\\r the lowest dose of ASP3082. A medical expert panel will check the results from this group and\\r decide if the next group can receive a higher dose of ASP3082. The panel will do this for\\r each group until all groups have received ASP3082 (by itself or together with cetuximab) or\\r until suitable doses have been selected for Part 2. In Part 2, other different small groups\\r of people will receive ASP3082 by itself or together with cetuximab or chemotherapy, with the\\r most suitable doses worked out from Part 1. This will help find a more accurate dose of\\r ASP3082 to use in future studies. ASP3082 (cetuximab or chemotherapy if used), will be given\\r through a vein. This is called an infusion. Each treatment cycle is 21 or 28 days long.\\r People will continue treatment until: they have medical problems from the treatment they\\r can't tolerate; their cancer gets worse; they start other cancer treatment; or they ask to\\r stop treatment. At some visits, other checks will include a medical examination,\\r echocardiogram (ECHO) or multigated acquisition (MUGA) scan, blood and urine tests and vital\\r signs. Vital signs include temperature, pulse, breathing rate, and blood pressure. (Blood\\r oxygen levels will also be checked for people treated with ASP3082 together with cetuximab or\\r chemotherapy.) Tumor samples will be taken during certain visits during treatment and when\\r treatment has finished. People will visit the clinic on certain days during their treatment,\\r with extra visits during the first 2 cycles of treatment. The study doctors will check for\\r any medical problems from ASP3082 by itself or together with cetuximab or chemotherapy. At\\r some visits, other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, blood and urine tests and vital signs. Vital signs\\r include temperature, pulse, breathing rate, and blood pressure. (Blood oxygen levels will\\r also be checked for people treated with ASP3082 together with cetuximab or chemotherapy.)\\r Tumor samples will be taken during certain visits during treatment and when treatment has\\r finished. People will visit the clinic within 7 days after stopping treatment. The study\\r doctors will check for any medical problems from ASP3082 by itself or together with cetuximab\\r or chemotherapy. Other checks will include a medical examination, echocardiogram (ECHO) or\\r multigated acquisition (MUGA) scan, urine and blood tests and vital signs. After this, people\\r will continue to visit the clinic every 9 weeks to check the condition of their cancer. They\\r will do this until 45 weeks after treatment stopped, or if their cancer is worse, they start\\r other cancer treatment, or they ask to stop treatment. Also, people may visit the clinic at\\r 30 days and 90 days after stopping treatment. At the 30-day visit, the study doctors will\\r check for any medical problems from ASP3082 by itself or together with cetuximab or\\r chemotherapy. People will have their vital signs checked and have some blood tests. At the\\r 90-day visit, the study doctors will check for any medical problems from ASP3082 by itself or\\r together with cetuximab or chemotherapy and people will have their vital signs checked.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: Cetuximab|DRUG: Chemotherapy 2|DRUG: Chemotherapy 1|DRUG: ASP3082\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"jRCT2031220738|3082-CL-0101\",\n \"start_date\": \"June 2022\",\n \"primary_completion_date\": \"October 2026\",\n \"completion_date\": \"October 2026\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Florida Cancer Specialists & Research Institute Sarasota, Sarasota, Florida, United States|Columbia University - Herbert Irving Comprehensive Cancer Center, New York, New York, United States|University of Kansas Medical Center, Westwood, Kansas, United States|Shizuoka Cancer Center, Sunto-gun, Shizuoka, Japan\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05382559\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Japan\",\n \"France\"\n ]\n },\n {\n \"nct_number\": \"NCT6237413\",\n \"brief_title\": \"A Study of ZG2001 in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"official_title\": \"A Phase I/II Dose Escalation Study to Evaluating the Tolerability, Safety, Efficacy and Pharmacokinetics of ZG2001 Tosilate Tablets in Participants With KRAS Mutated Advanced Solid Tumours\",\n \"brief_summary\": \" This study will evaluate the tolerability, safety, effects, and pharmacokinetics of ZG2001 in\\r Participants with advanced solid tumors that have a KRAS mutation.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: ZG2001 Tosilate Tablets\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Suzhou Zelgen Biopharmaceuticals Co.,Ltd\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"ZG2001-001\",\n \"start_date\": \"August 2023\",\n \"primary_completion_date\": \"February 2026\",\n \"completion_date\": \"February 2026\",\n \"first_posted\": \"February 2024\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Chinese PLA General Hospital, Beijing, Beijing, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06237413\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT6105021\",\n \"brief_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"official_title\": \"Phase I Study of Autologous CD8+ and CD4+ Engineered T Cell Receptor T Cells in Subjects With Advanced or Metastatic Solid Tumor\",\n \"brief_summary\": \" This study is open to adult patients with solid tumors who have a KRAS G12V mutation. This\\r mutation is often found in non-small cell lung cancer (NSCLC), colorectal cancer (CRC),\\r pancreatic ductal adenocarcinoma (PDAC) and other cancers. The study is for patients whose\\r cancer has spread through the body and for whom previous treatments were not successful or\\r treatment does not exist. Patients must also be positive for HLA-A*11:01. The purpose of this\\r study is to find the best dose of AFNT-211 that is safe and can shrink tumors in patients.\\r AFNT-211 is an investigational therapy and this is the first time that AFNT-211 is being\\r administered to patients. AFNT-211 is an autologous T cell product which means that it is\\r made from a patient's own T cells. These cells are engineered and grown to recognize the KRAS\\r G12V protein on the cell surface of cancer cells. AFNT-211 is infused into patients after a\\r short course of lymphodepleting chemotherapy. Patients will frequently visit the study site.\\r The doctors there will regularly check the size of the cancer and the patient's health. They\\r will also take note of any unwanted effects. Patients may continue in this study for as long\\r as they benefit from the treatment.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non-Small Cell Lung Cancer|Colorectal Cancer|Solid Tumor|Pancreatic Ductal Adenocarcinoma|KRAS G12V\",\n \"interventions\": \"DRUG: AFNT-211\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Affini-T Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"AFNT211-22-101\",\n \"start_date\": \"March 2024\",\n \"primary_completion_date\": \"December 2025\",\n \"completion_date\": \"December 2029\",\n \"first_posted\": \"October 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Providence Cancer Institute Franz Clinic, Portland, Oregon, United States|Memorial Sloan Kettering Cancer Center, New York, New York, United States|University of California Los Angeles Department of Medicine, Los Angeles, California, United States|Sarah Cannon Research Institute, Nashville, Tennessee, United States|Laura & Isaac Perlmutter Cancer Center at NYU Langone Health, New York, New York, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06105021\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4720976\",\n \"brief_title\": \"JAB-3312 Based Combination Therapy in Adult Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase 1/2a, Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Evidence of Antitumor Activity of JAB-3312 Based Combination Therapies in Adult Patients With Advanced Solid Tumors\",\n \"brief_summary\": \" To evaluate the safety and tolerability of JAB-3312 administered in investigational regimens\\r in adult participants with advanced solid tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"NSCLC|Solid Tumor\",\n \"interventions\": \"DRUG: JAB-3312|DRUG: Sotorasib|DRUG: Osimertinib|DRUG: Pembrolizumab|DRUG: Binimetinib\",\n \"collaborators\": \"Industry: AbbVie\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Jacobio Pharmaceuticals Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"JAB-3312-1003\",\n \"start_date\": \"March 2021\",\n \"primary_completion_date\": \"January 2024\",\n \"completion_date\": \"February 2024\",\n \"first_posted\": \"January 2021\",\n \"last_update_posted\": \"May 2023\",\n \"locations\": \"Research Site, Los Angeles, California, United States|Research Site, Houston, Texas, United States|Research Site, Orange City, Florida, United States|Research Site, Jacksonville, Florida, United States|Research Site, Oklahoma City, Oklahoma, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04720976\",\n \"genes\": [\n \"KRAS\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT6403735\",\n \"brief_title\": \"A Phase I Clinical Study of QLC1101 in Patients With Advanced Solid Tumors\",\n \"official_title\": \"A Phase I Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of QLC1101 Monotherapy in the Treatment of Patients With Advanced Solid Tumors Harboring a KRAS G12D Mutation\",\n \"brief_summary\": \" QLC1101 is a selective reversible inhibitor of KRAS G12D, with the dosage form of capsules\\r and administration route of oral administration. In the first-in-humans (FIH) study, the\\r sponsor will explore the safety, tolerability, pharmacokinetics (PK), and preliminary\\r efficacy of QLC1101 in subjects with advanced solid tumors harboring a KRAS G12D mutation.\\r The FIH study includes dose escalation, PK expansion, and efficacy expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Colorectal Cancer|Pancreatic Cancer|Non-small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: QLC1101\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Qilu Pharmaceutical Co., Ltd.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"QLC1101-101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"May 2026\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"May 2024\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Harbin Medical university cancer hospital, Ha'erbin, Heilongjiang, China|Yunnan Cancer Hospital, Kunming, Yunnan, China|Shanghai east hospital, Shanghai, Shanghai, China|Jiangxi Cancer Hospital, Nanchang, Jiangxi, China|The First Affiliated Hospital of Guangdong Pharmaceutical University, Guangzhou, Guangdong, China\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06403735\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"China\"\n ]\n },\n {\n \"nct_number\": \"NCT5163028\",\n \"brief_title\": \"A Dose Escalation Study of SHP2 Inhibitor in Patients With Solid Tumors Harboring KRAS of EGFR Mutations\",\n \"official_title\": \"A Phase 1, Open-Label, Dose Escalation of HBI-2376 in Patients With Advanced Malignant Solid Tumors Harboring KRAS or EGFR Mutations\",\n \"brief_summary\": \" A Phase 1 dose escalation study in patients with advanced solid tumors harboring KRAS or EGFR\\r mutations to determine the maximum tolerated dose and recommended Phase II dose of HBI-2376\\r and characterize its pharmacokinetic profile.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Cancer of Pancreas|Non Small Cell Lung Cancer|Cancer|Cancer of Colon|Colorectal Cancer|Solid Tumor|Pancreatic Cancer\",\n \"interventions\": \"DRUG: HBI-2376\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: HUYABIO International, LLC.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"HBI-2376-101\",\n \"start_date\": \"December 2021\",\n \"primary_completion_date\": \"December 2024\",\n \"completion_date\": \"December 2024\",\n \"first_posted\": \"December 2021\",\n \"last_update_posted\": \"September 2023\",\n \"locations\": \"Providence Medical Foundation, Fullerton, California, United States|Orlando Health, Inc., Orlando, Florida, United States|Virginia Cancer Specialists, Fairfax, Virginia, United States|Pan American Center for Oncology Trials (PanOncology Trials), Rio Piedras, Puerto Rico|Texas Oncology - Tyler, Tyler, Texas, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05163028\",\n \"genes\": [\n \"EGFR\",\n \"PTPN11\",\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6218914\",\n \"brief_title\": \"A Study of NT-112 in HLA-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/ or Metastatic Solid Tumors Positive for the KRAS G12D Mutation\",\n \"official_title\": \"An Open-label, Phase 1, Multicenter Study to Evaluate the Safety and Preliminary Anti-tumor Activity of NT-112 in Human Leukocyte Antigen-C*08:02-Positive Adult Subjects With Unresectable, Advanced, and/or Metastatic Solid Tumors That Are Positive for the KRAS G12D Mutation\",\n \"brief_summary\": \" Phase I Study of NT-112, an autologous T-cell therapy product genetically engineered to\\r express an HLA-C*08:02-restricted T cell receptor (TCR), targeting KRAS G12D mutant solid\\r tumors.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"KRAS G12D|Colorectal Carcinoma|Non-small Cell Lung Cancer|Endometrial Cancer|Solid Tumor, Adult|Pancreatic Ductal Adenocarcinoma\",\n \"interventions\": \"BIOLOGICAL: NT-112: Autologous, engineered T Cells targeting KRAS G12D\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Neogene Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: N/A|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NT-112-301\",\n \"start_date\": \"February 2024\",\n \"primary_completion_date\": \"August 2025\",\n \"completion_date\": \"January 2040\",\n \"first_posted\": \"January 2024\",\n \"last_update_posted\": \"June 2024\",\n \"locations\": \"Sarah Cannon Research Institute, Nashville, Tennessee, United States|NYU Langone Health, New York, New York, United States|Hoag Hospital Newport Beach, Newport Beach, California, United States|City of Hope, Duarte, California, United States|UCLA Health Jonsson Comprehensive Cancer Center, Los Angeles, California, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06218914\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5375084\",\n \"brief_title\": \"SHP2 Inhibitor BBP-398 in Combination With Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"official_title\": \"A Phase 1 Study of the SHP2 Inhibitor BBP-398 (Formerly Known as IACS-15509) in Combination With the Programmed Death Receptor-1 Blocking Antibody Nivolumab in Patients With Advanced Non-Small Cell Lung Cancer With a KRAS Mutation\",\n \"brief_summary\": \" This is a Phase 1 study of BBP-398, a SHP2 inhibitor, in combination with nivolumab, a PD-1\\r antibody, in patients with NSCLC with a KRAS mutation. The study involves 2 parts: Phase 1a\\r Dose Escalation and Phase 1b Dose Expansion.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor\",\n \"interventions\": \"DRUG: BBP-398 with nivolumab\",\n \"collaborators\": \"Industry: Bristol-Myers Squibb\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Navire Pharma Inc., a BridgeBio company\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"NAV-1004\",\n \"start_date\": \"October 2022\",\n \"primary_completion_date\": \"July 2024\",\n \"completion_date\": \"January 2025\",\n \"first_posted\": \"May 2022\",\n \"last_update_posted\": \"February 2024\",\n \"locations\": \"Cleveland Clinic, Cleveland, Ohio, United States|Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, Maryland, United States|NEXT Oncology, Fairfax, Virginia, United States|Providence Medical Foundation, Santa Rosa, California, United States|Medical University of South Carolina (MUSC) - Hollings Cancer Center, Charleston, South Carolina, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05375084\",\n \"genes\": [\n \"PTPN11\",\n \"KRAS\",\n \"PDCD1\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5661201\",\n \"brief_title\": \"NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"official_title\": \"Phase I Study of NEROFE and Doxorubicin in KRAS-mutated ST2-positive Solid Tumors\",\n \"brief_summary\": \" The goal of this clinical trial is to learn about the safety of NEROFE and doxorubicin and\\r how well it works in patients with advanced/unresectable or metastatic solid KRAS-mutated and\\r ST-positive solid tumors. The main question it aims to answer is to find the recommended dose\\r and scheduled for the combination of NEROFE and doxorubicin. Participants will receive weekly\\r doses of NEROFE and doxorubicin.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor|KRAS Mutation-Related Tumors\",\n \"interventions\": \"DRUG: NEROFE|DRUG: Doxorubicin\",\n \"collaborators\": \"Industry: Immune System Key Ltd\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Other: Georgetown University\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"STUDY00005711\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"January 2026\",\n \"completion_date\": \"January 2026\",\n \"first_posted\": \"December 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Georgetown Lombardi Comprehensive Cancer Center, Washington, District of Columbia, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05661201\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT5578092\",\n \"brief_title\": \"A Phase 1/2 Study of MRTX0902 in Solid Tumors With Mutations in the KRAS MAPK Pathway\",\n \"official_title\": \"A Phase 1/2 Multiple Expansion Cohort Trial of the SOS1 Inhibitor MRTX0902 in Patients With Advanced Solid Tumors Harboring Mutations in the KRAS MAPK Pathway\",\n \"brief_summary\": \" This is a Phase 1/2, open-label, multicenter, study evaluating the safety, tolerability, PK,\\r PD, and anti-tumor activity of MRTX0902 alone and in combination with MRTX849 (adagrasib) in\\r patients with advanced solid tumor malignancy harboring mutations in the KRAS-MAPK pathways.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Non Small Cell Lung Cancer|Solid Tumor|Advanced Solid Tumor|Colo-rectal Cancer\",\n \"interventions\": \"DRUG: MRTX0902|DRUG: MRTX849\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE|TWO\",\n \"funded_by\": \"Industry: Mirati Therapeutics Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"0902-001\",\n \"start_date\": \"November 2022\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"July 2026\",\n \"first_posted\": \"October 2022\",\n \"last_update_posted\": \"March 2024\",\n \"locations\": \"Seattle Cancer Care Alliance, Seattle, Washington, United States|Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland, United States|The University of Texas MD Anderson Cancer Center, Houston, Texas, United States|Denver Drug Development Unit - HealthONE, Denver, Colorado, United States|Pan America center for Oncology Trials LLC, Rio Piedras, Puerto Rico\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05578092\",\n \"genes\": [\n \"KRAS\",\n \"SOS1\",\n \"EGFR\"\n ],\n \"countries\": [\n \"United States\",\n \"Puerto Rico\"\n ]\n },\n {\n \"nct_number\": \"NCT6364696\",\n \"brief_title\": \"A Study to Find a Suitable Dose of ASP4396 in Adults With Solid Tumors\",\n \"official_title\": \"An Open-label Phase 1 Study of ASP4396 in Participants With Locally Advanced (Unresectable) or Metastatic Solid Tumor Malignancies With KRAS G12D Mutation\",\n \"brief_summary\": \" Genes contain genetic code which tell the body which proteins to make. Some types of cancer\\r are caused by changes, or mutations, in a gene called KRAS. Researchers are looking for ways\\r to stop the actions of abnormal proteins made from the mutated KRAS gene. The so-called G12D\\r mutation in the KRAS gene is common in people with some solid tumors.\\r \\r ASP4396 is being developed as a potential new treatment for solid tumors in people who have\\r the G12D mutation in their KRAS gene. ASP4396 is not currently available as a treatment for\\r the public. In this study, researchers will learn how ASP4396 is processed by and acts upon\\r the body. This information will help find a suitable dose and to check for potential medical\\r problems from ASP4396.\\r \\r In this study, ASP4396 is being given to humans for the first time.\\r \\r People in this study will be adults with locally advanced (unresectable), or metastatic solid\\r tumors with the G12D mutation in their KRAS gene. Locally advanced means the cancer has\\r spread to nearby tissue. Unresectable means the cancer cannot be removed by surgery.\\r Metastatic means the cancer has spread to other parts of the body. They may have been\\r previously treated with standard therapies or refused to receive those treatments.\\r \\r The main aims of the study are to check the safety of ASP4396, how well people cope with\\r medical problems during the study (how well it is tolerated), and to find a suitable dose of\\r ASP4396.\\r \\r This is an open-label study. This means that people in this study and clinic staff will know\\r that they will receive ASP4396.\\r \\r This study will be in 2 parts.\\r \\r Part 1 is called Dose Escalation. Different small groups of people will receive lower to\\r higher doses of ASP4396. For each dose, all medical problems will be recorded. The first\\r group will receive the lowest dose of ASP4396. A medical expert panel will check the results\\r and decide if the next group can receive a higher dose of ASP4396. The panel will do this\\r until all groups have taken ASP4396 or until suitable doses have been selected for Part 2.\\r \\r Part 2 is called Dose Expansion. Other different small groups of people will receive ASP4396\\r with the most suitable doses worked out from Part 1. This will help find a more accurate dose\\r of ASP4396 to use in future studies.\\r \\r In both parts of the study, ASP4396 will be given through a vein. This is called an infusion.\\r Each treatment cycle is 21 days long. People will continue treatment until: they have medical\\r problems from the treatment they can't cope with (can't tolerate); their cancer gets worse;\\r they start other cancer treatment; or they ask to stop treatment.\\r \\r People will visit the clinic on certain days during their treatment, with extra visits during\\r the first 2 cycles of treatment. The study doctors will check for any medical problems from\\r ASP4396. Also, people in the study will have a health check including blood tests. On some\\r visits they will also have scans to check for any changes in their cancer. Tumor samples will\\r be taken at certain visits during treatment with the option of a tumor sample being taken\\r after treatment has finished.\\r \\r People will visit the clinic about 7 days after they stop treatment. They will be asked about\\r any medical problems and will have a health check including blood tests.\\r \\r After this, people will visit the clinic for a health check several times. The number of\\r visits and checks done at each visit will depend on the health of each person and whether\\r they completed their treatment or not.\\r \\r After treatment has finished, people in the study will be followed up for up to 45 weeks.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Solid Tumor\",\n \"interventions\": \"DRUG: ASP4396\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Astellas Pharma Inc\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"4396-CL-0101\",\n \"start_date\": \"April 2024\",\n \"primary_completion_date\": \"April 2027\",\n \"completion_date\": \"April 2027\",\n \"first_posted\": \"April 2024\",\n \"last_update_posted\": \"April 2024\",\n \"locations\": \"NEXT Oncology Dallas, Irving, Texas, United States|NEXT Oncology Virginia, Fairfax, Virginia, United States|START Midwest, Grand Rapids, Michigan, United States|START Mountain Region, West Valley City, Utah, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT06364696\",\n \"genes\": [\n \"KRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n },\n {\n \"nct_number\": \"NCT4249843\",\n \"brief_title\": \"Study of Safety, Pharmacokinetics, and Antitumor Activity of BGB-3245 in Participants With Advanced or Refractory Tumors\",\n \"official_title\": \"A First-in-Human, Phase 1a/1b, Open Label, Dose-Escalation and Expansion Study to Investigate the Safety, Pharmacokinetics, and Antitumor Activity of the RAF Dimer Inhibitor BGB-3245 in Patients With Advanced or Refractory Tumors\",\n \"brief_summary\": \" The purpose of this study is to evaluate the safety, tolerability, and antitumor activity of\\r BGB-3245 in participants with advanced or refractory solid tumors\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"B-Raf Mutation-Related Tumors|Solid Tumor\",\n \"interventions\": \"DRUG: BGB-3245\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: MapKure, LLC\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BGB-3245-AU-001\",\n \"start_date\": \"February 2020\",\n \"primary_completion_date\": \"August 2024\",\n \"completion_date\": \"June 2025\",\n \"first_posted\": \"January 2020\",\n \"last_update_posted\": \"January 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Massachusetts General Hospital, Boston, Massachusetts, United States|One Clinical Research, Nedlands, Perth, Australia|MD Anderson, Houston, Texas, United States|The Kinghorn Cancer Centre, St Vincent Hospital Sydney, Sydney, New South Wales, Australia\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT04249843\",\n \"genes\": [\n \"KRAS\",\n \"NRAS\",\n \"BRAF\"\n ],\n \"countries\": [\n \"United States\",\n \"Australia\"\n ]\n },\n {\n \"nct_number\": \"NCT5786924\",\n \"brief_title\": \"A Study of BDTX-4933 in Patients With KRAS, BRAF and Select RAS/MAPK Mutation-Positive Cancers\",\n \"official_title\": \"A Phase 1, Open-label Study of Oral BDTX-4933 in Patients With KRAS, BRAF and Other Select RAS/MAPK Mutation Positive Neoplasms\",\n \"brief_summary\": \" BDTX-4933-101 is a first-in-human, open-label, Phase 1 dose escalation and an expansion\\r cohort study designed to evaluate the safety and tolerability, maximum tolerated dose (MTD)\\r and the preliminary recommended Phase 2 dose (RP2D), and antitumor activity of BDTX-4933. The\\r study population for the Dose Escalation part of the study comprises adults with recurrent\\r advanced/metastatic non-small cell lung cancer (NSCLC) harboring KRAS non-G12C mutations or\\r BRAF mutations, advanced/metastatic melanoma harboring BRAF or NRAS mutations, histiocytic\\r neoplasms harboring BRAF or NRAS mutations, and other solid tumors harboring BRAF mutations.\\r The study population for the Dose Expansion part of the study comprises adults with recurrent\\r advanced/metastatic NSCLC harboring KRAS non-G12C mutations. All patients will\\r self-administer BDTX-4933 orally in 28-day cycles until disease progression, toxicity,\\r withdrawal of consent, or termination of the study.\\r \",\n \"status\": \"Recruiting\",\n \"conditions\": \"Thyroid Carcinoma|Melanoma (Skin)|Histiocytic Neoplasm|BRAF V600E|BRAF Gene Mutation|Histiocytosis|KRAS Mutation-Related Tumors|KRAS G12D|Metastatic Lung Cancer|Recurrent NSCLC|Recurrent Lung Cancer|Metastatic Lung Non-Small Cell Carcinoma|Melanoma|Colorectal Carcinoma|Solid Carcinoma|NSCLC|NRAS Gene Mutation|Recurrent Lung Non-Small Cell Carcinoma|Recurrent Melanoma|Brain Metastases|KRAS G13C|Colorectal Cancer|Solid Tumor|Thyroid Cancer|BRAF|Metastatic Melanoma|Non-small Cell Lung Cancer|Recurrent Histiocytic and Dendritic Cell Neoplasm|BRAF V600 Mutation|KRAS G12V|BRAF Mutation-Related Tumors\",\n \"interventions\": \"DRUG: BDTX-4933\",\n \"gender\": \"All\",\n \"age\": \"18 Years to N/A\",\n \"phases\": \"ONE\",\n \"funded_by\": \"Industry: Black Diamond Therapeutics, Inc.\",\n \"study_type\": \"Interventional\",\n \"study_designs\": \"allocation: Non-Randomized|masking: None (Open Label)|primary purpose: Treatment\",\n \"other_ids\": \"BDTX-4933-101\",\n \"start_date\": \"April 2023\",\n \"primary_completion_date\": \"June 2026\",\n \"completion_date\": \"December 2026\",\n \"first_posted\": \"March 2023\",\n \"last_update_posted\": \"May 2024\",\n \"locations\": \"Memorial Sloan Kettering Cancer Center, New York, New York, United States|Dana-Farber Cancer Institute, Boston, Massachusetts, United States|NEXT Virginia, Fairfax, Virginia, United States|University of Colorado - Aurora Cancer Center, Aurora, Colorado, United States|Banner Health- MD Anderson Cancer Center, Gilbert, Arizona, United States\",\n \"url\": \"https://clinicaltrials.gov/ct2/show/NCT05786924\",\n \"genes\": [\n \"KRAS\",\n \"BRAF\",\n \"NRAS\"\n ],\n \"countries\": [\n \"United States\"\n ]\n }\n ],\n \"resistant_drugs\": [\n \"Panitumumab\",\n \"Tucatinib\",\n \"Fruquintinib\"\n ],\n \"classification_flag\": \"TIER_2\",\n \"variant_type\": \"SNP\",\n \"end_position\": 25398282,\n \"germline_classification\": \"PATHOGENIC\",\n \"confidence\": \"High\",\n \"resistant\": [\n {\n \"id\": \"FDA219\",\n \"details\": \"FDA FDA219 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab in combination with FOLFOX, as first-line therapy for the treatment of patients with wild-type RAS metastatic colorectal cancer. Panitumumab and FOLFOX is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA217\",\n \"details\": \"FDA FDA217 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved panitumumab for the treatment of patients with wild-type RAS metastatic colorectal cancer, following disease progression after prior treatment with fluoropyrimidine, oxaliplatin, and irinotecan-containing chemotherapy. Panitumumab is not indicated for the treatment of patients with CRC that harbor somatic mutations in exon 2 (codons 12 and 13), exon 3 (codons 59 and 61), and exon 4 (codons 117 and 146) of either K-Ras or N-Ras.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"Anti-EGFR monoclonal antibody\",\n \"outcome\": false,\n \"trade_name\": \"Vectibix\",\n \"name\": \"Panitumumab\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/125147s207lbl.pdf\",\n \"evidence_disease\": \"Colorectal Cancer\",\n \"evidence_type\": \"VARIANT\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA480\",\n \"details\": \"FDA FDA480 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-Approved tucatinib in combination with trastuzumab is indicated for the treatment of adult patients with RAS wild-type, HER2-positive unresectable or metastatic colorectal cancer that has progressed following treatment with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy. Select patients for treatment of unresectable or metastatic colorectal cancer with tucatinib based on the presence of HER2 overexpression or gene amplification.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"drug_type\": \"HER2 tyrosine kinase inhibitor\",\n \"outcome\": false,\n \"trade_name\": \"Tukysa\",\n \"name\": \"Tucatinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/213411s004lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"EXON\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n },\n {\n \"id\": \"FDA485\",\n \"details\": \"FDA FDA485 \",\n \"positive\": false,\n \"selected\": true,\n \"description\": \"FDA-approved fruquintinib is indicated for the treatment of adult patients with metastatic colorectal cancer (mCRC) who have been previously treated with fluoropyrimidine-, oxaliplatin-, and irinotecan-based chemotherapy, an anti-VEGF therapy, and, if RAS wild-type and medically appropriate, an anti-EGFR therapy.\",\n \"level\": \"C\",\n \"evidence_direction\": \"SUPPORTS\",\n \"outcome\": false,\n \"trade_name\": \"Fruzaqla\",\n \"name\": \"Fruquintinib\",\n \"details_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf.htm\",\n \"responsive\": false,\n \"evidence_url\": \"https://www.accessdata.fda.gov/drugsatfda_docs/label/2023/217564s000lbl.pdf\",\n \"evidence_disease\": \"Colorectal cancer\",\n \"evidence_type\": \"GENE\",\n \"evidence_source\": \"FDA\",\n \"evidence_genes\": [\n \"KRAS\"\n ],\n \"label\": \"FDA Approved for Different Disease\",\n \"explicitly_in_report\": true\n }\n ],\n \"location\": \"TODO\",\n \"affected_exons\": {\n \"start\": 2,\n \"end\": 2\n },\n \"num_exons_in_transcript\": 5,\n \"clinvar_id\": [\n \"45123\"\n ],\n \"alt\": \"A\",\n \"ref\": \"C\",\n \"internal_frequency\": 10,\n \"variant_quality\": 9731.01,\n \"ref_depth\": 1137,\n \"alt_depth\": 610,\n \"cosmic_ids\": [\n \"COSM4169642;COSV55538079;COSV55497378\"\n ],\n \"dbsnp\": \"rs121913535\",\n \"somatic_interpretation_text\": \"p.Gly13Cys, a non synonymous variant in the KRAS, an oncogene.
The variant resides within the Ras, Arf, Roc, MMR_HSR1 domains.
The variant was reported in COSMIC (COSM4169642,COSV55538079,COSV55497378) and ClinVar (45123).
The variant was classified as a Tier 1 using the ASCO/CAP/AMP Guidelines and as Pathogenic according to the ACMG Guidelines.\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"Pathogenic\",\n \"highest_evidence_level\": \"C\",\n \"depth\": 1989,\n \"gene_coverage_data\": {\n \"percent_covered\": \"100.00\",\n \"average_coverage\": \"3413.22\",\n \"median_coverage\": 2890,\n \"max_coverage\": 6258,\n \"min_coverage\": 710\n },\n \"hgvs_p_single_letter\": \"p.G13C\",\n \"cancer_hotspot_data\": {\n \"same_ref_amino_acid_count\": 264,\n \"same_ref_alt_amino_acid_count\": 32\n },\n \"oncogenic_classification\": \"Likely Oncogenic\",\n \"oncogenic_classification_display_name\": \"Likely Oncogenic\",\n \"user_annotations\": [\n {\n \"name\": \"Oncomine Hotspot\",\n \"value\": \"\"\n }\n ]\n },\n {\n \"id\": \"chr6:31322251-31325035:ded96e2bf618b2e2cd2100982951b5ff\",\n \"chr\": \"chr6\",\n \"position\": 31322252,\n \"zygosity\": \"N/A\",\n \"text_fields\": [\n {\n \"id\": \"Interpretation\",\n \"value\": \"c.-100_*4+3del is a 2.8kb deletion.The variant was classified as a Tier 3 using the ASCO/CAP/AMP Guidelines and as VUS according to the ACMG Guidelines.\",\n \"display_name\": \"Interpretation\"\n },\n {\n \"id\": \"details\",\n \"value\": \"CHR6: 31322252 None\",\n \"display_name\": \"details\"\n },\n {\n \"id\": \"Gene_Summary\",\n \"value\": \"HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]\",\n \"display_name\": \"Gene Summary\"\n }\n ],\n \"transcript\": \"NM_005514.8\",\n \"variant_id\": \"chr6:31322251-31325035:ded96e2bf618b2e2cd2100982951b5ff\",\n \"classification\": \"TIER_3\",\n \"classification_flag\": \"TIER_3\",\n \"sv_length\": 2784,\n \"sv_type\": \"DELETION\",\n \"end_position\": 31325035,\n \"cipos\": {\n \"first\": 0,\n \"second\": 0\n },\n \"ciend\": {\n \"first\": 0,\n \"second\": 0\n },\n \"gene_list\": [\n \"MIR6891\",\n \"HLA-B\"\n ],\n \"germline_classification\": \"POSSIBLY_PATHOGENIC_MODERATE\",\n \"confidence\": \"High\",\n \"location\": \"TODO\",\n \"copy_number\": 0.39,\n \"somatic_interpretation_text\": \"c.-100_*4+3del is a 2.8kb deletion.
The variant was classified as a Tier 3 using the ASCO/CAP/AMP Guidelines and as VUS according to the ACMG Guidelines.\",\n \"sv_length_description\": \"2.78 Kb\",\n \"cytobands_description\": \"6p21.33\",\n \"is_case_specific_interpretation_text\": false,\n \"germline_classification_display_name\": \"VUS\",\n \"amount_of_genes\": 2,\n \"highest_evidence_level\": \"?\"\n }\n ],\n \"clinically_significant_genes_status\": {\n \"all_genes_statuses\": [\n {\n \"gene_symbol\": \"AKT1\",\n \"is_detected\": false,\n \"average_coverage\": 604.9618530273438,\n \"coverage_percentage\": 0.7548770308494568\n },\n {\n \"gene_symbol\": \"BRAF\",\n \"is_detected\": false,\n \"average_coverage\": 2957.4638671875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"CCNE1\",\n \"is_detected\": false,\n \"average_coverage\": 1459.640380859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"DPYD\",\n \"is_detected\": false,\n \"average_coverage\": 2325.35498046875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"ERBB2\",\n \"is_detected\": false,\n \"average_coverage\": 1157.437744140625,\n \"coverage_percentage\": 0.9686120748519897\n },\n {\n \"gene_symbol\": \"FBXW7\",\n \"is_detected\": false,\n \"average_coverage\": 2395.937255859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"KRAS\",\n \"is_detected\": true,\n \"detected_snps\": [\n {\n \"hgvs_c\": \"c.35G>A\",\n \"hgvs_p\": \"p.Gly12Asp\"\n },\n {\n \"hgvs_c\": \"c.37G>T\",\n \"hgvs_p\": \"p.Gly13Cys\"\n }\n ],\n \"average_coverage\": 3413.222900390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"MLH1\",\n \"is_detected\": true,\n \"detected_snps\": [\n {\n \"hgvs_c\": \"c.-168-1G>T\",\n \"hgvs_p\": \"\"\n }\n ],\n \"average_coverage\": 2148.906494140625,\n \"coverage_percentage\": 0.9877075552940369\n },\n {\n \"gene_symbol\": \"MTAP\",\n \"is_detected\": false,\n \"average_coverage\": 1916.8304443359375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NRG1\",\n \"is_detected\": false,\n \"average_coverage\": 2998.603271484375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NTRK1\",\n \"is_detected\": false,\n \"average_coverage\": 942.8361206054688,\n \"coverage_percentage\": 0.8505315780639648\n },\n {\n \"gene_symbol\": \"NTRK2\",\n \"is_detected\": false,\n \"average_coverage\": 1627.3345947265625,\n \"coverage_percentage\": 0.9111531376838684\n },\n {\n \"gene_symbol\": \"NTRK3\",\n \"is_detected\": false,\n \"average_coverage\": 1373.85400390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"POLE\",\n \"is_detected\": false,\n \"average_coverage\": 1211.2237548828125,\n \"coverage_percentage\": 0.9657700061798096\n },\n {\n \"gene_symbol\": \"PPP2R1A\",\n \"is_detected\": false,\n \"average_coverage\": 738.8914794921875,\n \"coverage_percentage\": 0.90086829662323\n },\n {\n \"gene_symbol\": \"PTEN\",\n \"is_detected\": true,\n \"detected_snps\": [\n {\n \"hgvs_c\": \"c.741dup\",\n \"hgvs_p\": \"p.Pro248Thrfs*5\"\n }\n ],\n \"average_coverage\": 1501.5950927734375,\n \"coverage_percentage\": 0.9188918471336365\n },\n {\n \"gene_symbol\": \"RET\",\n \"is_detected\": false,\n \"average_coverage\": 943.4221801757812,\n \"coverage_percentage\": 0.9868255853652954\n },\n {\n \"gene_symbol\": \"TP53\",\n \"is_detected\": false,\n \"average_coverage\": 1146.1800537109375,\n \"coverage_percentage\": 0.9593437910079956\n }\n ],\n \"dna_genes_statuses\": [\n {\n \"gene_symbol\": \"AKT1\",\n \"is_detected\": false,\n \"average_coverage\": 604.9618530273438,\n \"coverage_percentage\": 0.7548770308494568\n },\n {\n \"gene_symbol\": \"BRAF\",\n \"is_detected\": false,\n \"average_coverage\": 2957.4638671875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"CCNE1\",\n \"is_detected\": false,\n \"average_coverage\": 1459.640380859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"DPYD\",\n \"is_detected\": false,\n \"average_coverage\": 2325.35498046875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"ERBB2\",\n \"is_detected\": false,\n \"average_coverage\": 1157.437744140625,\n \"coverage_percentage\": 0.9686120748519897\n },\n {\n \"gene_symbol\": \"FBXW7\",\n \"is_detected\": false,\n \"average_coverage\": 2395.937255859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"KRAS\",\n \"is_detected\": true,\n \"average_coverage\": 3413.222900390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"MLH1\",\n \"is_detected\": true,\n \"average_coverage\": 2148.906494140625,\n \"coverage_percentage\": 0.9877075552940369\n },\n {\n \"gene_symbol\": \"MTAP\",\n \"is_detected\": false,\n \"average_coverage\": 1916.8304443359375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NRG1\",\n \"is_detected\": false,\n \"average_coverage\": 2998.603271484375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NTRK1\",\n \"is_detected\": false,\n \"average_coverage\": 942.8361206054688,\n \"coverage_percentage\": 0.8505315780639648\n },\n {\n \"gene_symbol\": \"NTRK2\",\n \"is_detected\": false,\n \"average_coverage\": 1627.3345947265625,\n \"coverage_percentage\": 0.9111531376838684\n },\n {\n \"gene_symbol\": \"NTRK3\",\n \"is_detected\": false,\n \"average_coverage\": 1373.85400390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"POLE\",\n \"is_detected\": false,\n \"average_coverage\": 1211.2237548828125,\n \"coverage_percentage\": 0.9657700061798096\n },\n {\n \"gene_symbol\": \"PPP2R1A\",\n \"is_detected\": false,\n \"average_coverage\": 738.8914794921875,\n \"coverage_percentage\": 0.90086829662323\n },\n {\n \"gene_symbol\": \"PTEN\",\n \"is_detected\": true,\n \"average_coverage\": 1501.5950927734375,\n \"coverage_percentage\": 0.9188918471336365\n },\n {\n \"gene_symbol\": \"RET\",\n \"is_detected\": false,\n \"average_coverage\": 943.4221801757812,\n \"coverage_percentage\": 0.9868255853652954\n },\n {\n \"gene_symbol\": \"TP53\",\n \"is_detected\": false,\n \"average_coverage\": 1146.1800537109375,\n \"coverage_percentage\": 0.9593437910079956\n }\n ],\n \"rna_genes_statuses\": [\n {\n \"gene_symbol\": \"AKT1\",\n \"is_detected\": false,\n \"average_coverage\": 604.9618530273438,\n \"coverage_percentage\": 0.7548770308494568\n },\n {\n \"gene_symbol\": \"BRAF\",\n \"is_detected\": false,\n \"average_coverage\": 2957.4638671875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"CCNE1\",\n \"is_detected\": false,\n \"average_coverage\": 1459.640380859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"DPYD\",\n \"is_detected\": false,\n \"average_coverage\": 2325.35498046875,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"ERBB2\",\n \"is_detected\": false,\n \"average_coverage\": 1157.437744140625,\n \"coverage_percentage\": 0.9686120748519897\n },\n {\n \"gene_symbol\": \"FBXW7\",\n \"is_detected\": false,\n \"average_coverage\": 2395.937255859375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"KRAS\",\n \"is_detected\": true,\n \"average_coverage\": 3413.222900390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"MLH1\",\n \"is_detected\": true,\n \"average_coverage\": 2148.906494140625,\n \"coverage_percentage\": 0.9877075552940369\n },\n {\n \"gene_symbol\": \"MTAP\",\n \"is_detected\": false,\n \"average_coverage\": 1916.8304443359375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NRG1\",\n \"is_detected\": false,\n \"average_coverage\": 2998.603271484375,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"NTRK1\",\n \"is_detected\": false,\n \"average_coverage\": 942.8361206054688,\n \"coverage_percentage\": 0.8505315780639648\n },\n {\n \"gene_symbol\": \"NTRK2\",\n \"is_detected\": false,\n \"average_coverage\": 1627.3345947265625,\n \"coverage_percentage\": 0.9111531376838684\n },\n {\n \"gene_symbol\": \"NTRK3\",\n \"is_detected\": false,\n \"average_coverage\": 1373.85400390625,\n \"coverage_percentage\": 1\n },\n {\n \"gene_symbol\": \"POLE\",\n \"is_detected\": false,\n \"average_coverage\": 1211.2237548828125,\n \"coverage_percentage\": 0.9657700061798096\n },\n {\n \"gene_symbol\": \"PPP2R1A\",\n \"is_detected\": false,\n \"average_coverage\": 738.8914794921875,\n \"coverage_percentage\": 0.90086829662323\n },\n {\n \"gene_symbol\": \"PTEN\",\n \"is_detected\": true,\n \"average_coverage\": 1501.5950927734375,\n \"coverage_percentage\": 0.9188918471336365\n },\n {\n \"gene_symbol\": \"RET\",\n \"is_detected\": false,\n \"average_coverage\": 943.4221801757812,\n \"coverage_percentage\": 0.9868255853652954\n },\n {\n \"gene_symbol\": \"TP53\",\n \"is_detected\": false,\n \"average_coverage\": 1146.1800537109375,\n \"coverage_percentage\": 0.9593437910079956\n }\n ]\n },\n \"case_resolution_info\": {},\n \"qc\": {\n \"somatic\": {\n \"coverage_data\": {\n \"relation\": \"proband\",\n \"avg_depth_targeted_exome\": 1655.82,\n \"avg_depth_refseq_exome\": 48.91,\n \"percent_targeted_exome_covered\": 95.03,\n \"sample_name\": \"25-12107-3-4\",\n \"genes_coverage_percentage_stats\": {\n \"percent_covered_over_fully\": 0.028723368421196938,\n \"percent_covered_over_medium\": 0.03016793727874756,\n \"percent_covered_over_low\": 0.030617058277130127,\n \"percent_covered_over_first_user_threshold\": 0.03192353993654251,\n \"percent_covered_over_second_user_threshold\": 0.03143702819943428,\n \"percent_covered_over_third_user_threshold\": 0.03112119436264038,\n \"percent_covered_over_fourth_user_threshold\": 0.029492564499378204,\n \"percent_covered_over_fifth_user_threshold\": 0.026867492124438286\n },\n \"kit_coverage_percentage_stats\": {\n \"percent_covered_over_fully\": 0.9502578973770142,\n \"percent_covered_over_medium\": 0.9849613904953003,\n \"percent_covered_over_low\": 0.991165280342102,\n \"percent_covered_over_first_user_threshold\": 0.9972184300422668,\n \"percent_covered_over_second_user_threshold\": 0.9958634376525879,\n \"percent_covered_over_third_user_threshold\": 0.9946165084838867,\n \"percent_covered_over_fourth_user_threshold\": 0.9714561104774475,\n \"percent_covered_over_fifth_user_threshold\": 0.8928326368331909\n },\n \"virtual_panel_coverage_percentage_stats\": {}\n },\n \"quality\": 100,\n \"num_variants_none_low_confidence\": 1956,\n \"num_variants\": 7925,\n \"num_genes_with_variants\": 1279,\n \"num_variants_none_failed_confidence\": 2003,\n \"num_snp_variants_none_failed_confidence\": 1925,\n \"num_indel_variants_none_failed_confidence\": 78,\n \"percent_variants_in_dbsnp\": 0.6021451104100947,\n \"average_depth\": 1341.9913366336634,\n \"custom_qc_params\": {\n \"rna_pool1Reads\": \"1735159\",\n \"deamination_metric\": \"5\",\n \"assumed_gender\": \"f\",\n \"rna_mean_read_length\": \"70.0\",\n \"rna_mapped_reads\": \"2333158\",\n \"mapd\": \"0.333\",\n \"rna_unmapped_reads\": \"192672\",\n \"rna_pool2Reads\": \"597999\",\n \"median_reads_per_amplicon\": \"1336.0\",\n \"percent_non_zero_amplicons\": \"99.77\"\n }\n }\n },\n \"clinical_info\": {}\n}"}],"_postman_id":"9da73d25-c871-49e3-9adc-a85533784754"},{"name":"Generate report","id":"6e856a65-5fd5-4e31-adab-3ee77fb48b07","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\n \"analysis_id\": \"1234\"\n}","options":{"raw":{"language":"json"}}},"url":"https://dev-api.genoox.com/v1/analysis/report/publish","description":"

Generates a clinical report for a specified case (analysis), including variants in the clinical significance bin with their currect user classification state (without saving any new final classifications).

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","analysis","report","publish"],"host":["dev-api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"0e0ebe56-87e2-4c70-82bd-b349bafc613b","name":"Generate report","originalRequest":{"method":"POST","header":[],"body":{"mode":"raw","raw":"{\n \"analysis_id\": \"1234\"\n}","options":{"raw":{"language":"json"}}},"url":"https://dev-api.genoox.com/v1/analysis/report/publish"},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n \"report_id\": \"1234\",\n \"report_file\": \"https://genoox-dataengine-westeurope.s3.eu-west-1.amazonaws.com/1234\"\n}"}],"_postman_id":"6e856a65-5fd5-4e31-adab-3ee77fb48b07"},{"name":"Lists cases with reports","id":"0e2ef745-ca01-4cbb-af75-bf592cf08762","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"GET","header":[],"url":"https://api.genoox.com/v1/reports/list?signed_after=&report_status=&analysis_id=&signed_before=&page_number=","description":"

Returns a paginated list of reports with optional filtering. The response includes only the most recent (latest) report per analysis.

\n

Filters:

\n
    \n

  • analysis_id

    \n
    • \n

  • signed date range (signed_after, signed_before)

    \n
    • \n

  • report_status (e.g., Final, Amended, Addended, Revision, Preliminary, etc.)

    \n
    • \n
\n

Date Formats for signed_after and signed_before****:

\n
    \n

  • Unix timestamp in seconds (10 digits): 1704067200

    \n
    • \n

  • Unix timestamp in milliseconds (13 digits): 1704067200000

    \n
    • \n

  • Date string ddMMyyyy: 15012024

    \n
    • \n

  • Month/year MMyyyy: 012024

    \n
    • \n

  • Year only yyyy: 2024

    \n
    • \n
\n

Note: Invalid date formats will return a 400 error with message indicating the unparseable value.

\n

Pagination: Results are paginated. Use page_number to navigate through pages.

\n

Response Fields:

\n
\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
FieldTypeDescription
num_pagesintegerTotal number of pages matching the filters
page_numberintegerCurrent page number returned
reportsarrayArray of report objects
\n

Report object

\n
\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
FieldTypeDescription
analysis_idintegerAnalysis identifier
report_idintegerReport identifier
signed_atstring (ISO 8601)Timestamp the report was signed
signed_bystringSigner name
signed_by_mailstringSigner email
report_statusstringReport status
revision_atstring (ISO 8601)Timestamp of last revision (if applicable)
revision_bystringName of reviser (if applicable)
\n
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Creates a new knowledge-base panel with a defined set of genes and optional metadata. The request must include a unique panel_name, a valid panel_type (Germline or Somatic), and a non-empty list of genes, each with a required gene name and optional transcripts. Gene names are normalized to canonical symbols by default; genes normalized to a different symbol and genes that cannot be recognized are reported in the response. If a panel with the same name already exists, the request fails and returns the existing panel ID. On success, the API creates the panel with version 1 and returns the panel metadata, total genes added, and details of normalized and filtered genes.

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v2","panel","create"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"a5898c19-d6c7-4e12-a4f8-21870fe5a4b4","name":"Create Panel","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"panel_name\": \"Panel1\",\n \"panel_type\": \"Germline\",\n \"description\": \"Test the create panel API\",\n \"clinical_domains\": [\"Cardiac Channelopathies\"],\n \"genes\": [\n {\n \"name\": \"ACAD9\",\n \"transcripts\": [\"NR_033426.2\"]\n },\n {\n \"name\": \"EPRS1\"\n },\n {\n \"name\": \"notreal\"\n }\n ]\n}","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v2/panel/create"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text"}],"cookie":[{"expires":"Invalid Date","domain":"","path":""}],"responseTime":null,"body":"{\n \"kb_panel\": {\n \"panel_id\": \"8ef35521-3776-4ce3-b269-27d58e02a23e\",\n \"panel_name\": \"Panel1\",\n \"panel_type\": \"Germline\",\n \"description\": \"Test the create panel API\",\n \"clinical_domains\": [\n \"Cardiac Channelopathies\"\n ],\n \"phenotypes\": [],\n \"last_update\": \"2025-12-23T11:33:49.859+00:00\",\n \"updated_by\": \"test@genoox.com\",\n \"created_by\": \"test@genoox.com\",\n \"version\": 1\n },\n \"total_genes\": 2,\n \"total_variants\": 0,\n \"normalized_genes\": [\n {\n \"input\": \"EPRS1\",\n \"normalized\": \"EPRS\"\n }\n ],\n \"filtered_genes\": [\n \"notreal\"\n ]\n}"}],"_postman_id":"af2f532b-49f5-4795-92ae-a55c392cef14"},{"name":"Update Panel","id":"62e32f42-4f16-47fd-89fb-55372fd2d8bc","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"url":"https://api.genoox.com/v1/panel/update","description":"

Updates an existing knowledge-base panel by creating a new version with an updated gene list. The request must include a valid panel_id and a non-empty list of genes. By default, the update replaces the panel’s gene list and normalizes gene names. When overwrite is set to false, the provided genes are added to the existing panel genes instead of replacing them. Gene names are normalized to canonical symbols by default, and any unrecognized genes are excluded and returned in the response. If the specified panel ID does not exist, the request fails with an error. On success, the response includes the updated panel metadata, the new version number and id, and details about normalized and filtered genes.

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","panel","update"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"fe058cfe-a5a8-407d-8ca7-daf5e78e722f","name":"Update Panel","originalRequest":{"method":"POST","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"{\n \"panel_id\": \"90072864-91cf-4b3f-a1b9-27c6f376036d\",\n \"genes\": [\n {\n \"name\": \"BRCA1\"\n }\n ],\n \"overwrite\": false\n}\n","options":{"raw":{"language":"json"}}},"url":"https://api.genoox.com/v1/panel/update"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text"}],"cookie":[{"expires":"Invalid Date","domain":"","path":""}],"responseTime":null,"body":"{\n \"kb_panel\": {\n \"panel_id\": \"7f0345e3-fc40-47fc-bed0-985fbce98f99\",\n \"panel_name\": \"panel1\",\n \"panel_type\": \"Germline\",\n \"description\": \"\",\n \"clinical_domains\": [],\n \"phenotypes\": [],\n \"last_update\": \"2026-01-06T09:12:59.086+00:00\",\n \"updated_by\": \"test@genoox.com\",\n \"created_by\": \"test@genoox.com\",\n \"version\": 2\n },\n \"total_genes\": 518,\n \"total_variants\": 0,\n \"normalized_genes\": [],\n \"filtered_genes\": []\n}"}],"_postman_id":"62e32f42-4f16-47fd-89fb-55372fd2d8bc"},{"name":"List all panels","id":"8287139b-582c-49ee-8930-809812e4f1fb","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"url":"https://api.genoox.com/v1/panels/list","description":"

Returns a list of latest version all panels, including both private and public panels. Each panel entry includes the panel ID, name, description, visibility, last update timestamp, and audit information.

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v1","panels","list"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"dad08371-04fe-416d-bc73-a2092656600a","name":"List all panels","originalRequest":{"method":"POST","header":[],"url":"https://api.genoox.com/v1/panels/list"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text"}],"cookie":[{"expires":"Invalid Date","domain":"","path":""}],"responseTime":null,"body":"[\n {\n \"id\": \"34cb0f81-ba38-412f-b5fd-cbd3dcd4b48e\",\n \"name\": \"POLR1C\",\n \"description\": \"\",\n \"is_public\": false,\n \"last_update_millis\": 1748897793761,\n \"created_by\": \"carmen@genoox.com\",\n \"updated_by\": \"carmen@genoox.com\"\n },\n {\n \"id\": \"8c6bfda3-312e-436b-a0c1-f43d43b1b36b\",\n \"name\": \"WES-Inwz-v1\",\n \"description\": \"\",\n \"is_public\": false,\n \"last_update_millis\": 1749467411381,\n \"created_by\": \"carmen@genoox.com\",\n \"updated_by\": \"carmen@genoox.com\"\n },\n {\n \"id\": \"0d9259ed-6477-423e-9e8e-3c89a11b1c28\",\n \"name\": \"TCTE1\",\n \"description\": \"\",\n \"is_public\": false,\n \"last_update_millis\": 1748940325692,\n \"created_by\": \"matan@genoox.com\",\n \"updated_by\": \"matan@genoox.com\"\n },\n {\n \"id\": \"7f0345e3-fc40-47fc-bed0-985fbce98f99\",\n \"name\": \"PID_v7_full\",\n \"description\": \"\",\n \"is_public\": false,\n \"last_update_millis\": 1767690779086,\n \"created_by\": \"carmen@genoox.com\",\n \"updated_by\": \"carmen@genoox.com\"\n }\n]"}],"_postman_id":"8287139b-582c-49ee-8930-809812e4f1fb"},{"name":"Export All Panels","id":"2fa56331-cd6b-4a4e-96c2-92763f23c9df","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"POST","header":[],"url":"https://api.genoox.com/v3/panel/export_all","description":"

Exports all panels into a single downloadable ZIP package. The response returns a time-limited download_url to fetch the ZIP file and a manifest (panels) describing what was exported. Each manifest entry maps the panel’s name in Franklin to the generated export file name, along with the exported version and the panel ID.

\n","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["v3","panel","export_all"],"host":["api","genoox","com"],"query":[],"variable":[]}},"response":[{"id":"6e033e61-5278-4bdd-b03f-1f0bdecc46ef","name":"Export All Panels","originalRequest":{"method":"POST","header":[],"url":"https://api.genoox.com/v3/panel/export_all"},"_postman_previewlanguage":"json","header":[{"key":"Content-Type","value":"application/json","description":"","type":"text"}],"cookie":[{"expires":"Invalid Date","domain":"","path":""}],"responseTime":null,"body":"{\n \"download_url\": \"https://.../KB_Panels.zip\",\n \"panels\": [\n {\n \"panel_name\": \"PID_v7_full\",\n \"export_file_name\": \"PID_v7_full_version_2_7f0345e3-fc40-47fc-bed0-985fbce98f99.tsv\",\n \"version\": 2,\n \"panel_id\": \"7f0345e3-fc40-47fc-bed0-985fbce98f99\"\n },\n {\n \"panel_name\": \"PID_v7_full\",\n \"export_file_name\": \"PID_v7_full_version_1_90072864-91cf-4b3f-a1b9-27c6f376036d.tsv\",\n \"version\": 1,\n \"panel_id\": \"90072864-91cf-4b3f-a1b9-27c6f376036d\"\n }\n ]\n}"}],"_postman_id":"2fa56331-cd6b-4a4e-96c2-92763f23c9df"},{"name":"Get panel by id","id":"4d993d61-0a3e-43aa-ba3d-e33268ac83b4","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"method":"GET","header":[],"url":"https://franklin.genoox.com/api/kb/panels/export?panel_id=3129dbb8-6d24-4aaa-bfbe-2199e3a0e4d9","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}},"urlObject":{"protocol":"https","path":["api","kb","panels","export"],"host":["franklin","genoox","com"],"query":[{"key":"panel_id","value":"3129dbb8-6d24-4aaa-bfbe-2199e3a0e4d9"}],"variable":[]}},"response":[{"id":"08de74a1-f717-4f69-b4ec-cf0cda193d87","name":"Get panel by id","originalRequest":{"method":"GET","header":[]},"_postman_previewlanguage":null,"header":null,"cookie":[],"responseTime":null,"body":null}],"_postman_id":"4d993d61-0a3e-43aa-ba3d-e33268ac83b4"}],"id":"504ef8e0-afcf-43c6-b113-9517e4ee6e4b","_postman_id":"504ef8e0-afcf-43c6-b113-9517e4ee6e4b","description":"","auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":"{{AuthToken}}"}]},"isInherited":true,"source":{"_postman_id":"4335389d-12e3-445f-8182-339df95b2a09","id":"4335389d-12e3-445f-8182-339df95b2a09","name":"Franklin API","type":"collection"}}},{"name":"Variant Interpertation","item":[{"name":"Search Variant","id":"dedb5833-abad-4f9d-9c24-a3dc150e0913","protocolProfileBehavior":{"disableBodyPruning":true},"request":{"auth":{"type":"bearer","bearer":{"basicConfig":[{"key":"token","value":""}]},"isInherited":false},"method":"GET","header":[],"url":"https://api.genoox.com/v2/search/snp/?search_text=chr3-10183824-A-G","description":"

Converts a search text string, to a 0..N number of possible variants (SNP \\ CNV) response includes a link to Franklin and additional annotations which can form variant nomenclatures such as Gene, transcript, c.Dot, p.Dot etc.

\n","urlObject":{"protocol":"https","path":["v2","search","snp",""],"host":["api","genoox","com"],"query":[{"description":{"content":"

Search text string that represents a variant in a variety of nomenclatures (c.Dot \\ p.Dot \\ chrom position etc.)

\n","type":"text/plain"},"key":"search_text","value":"chr3-10183824-A-G"}],"variable":[]}},"response":[{"id":"ace42ad1-3d9d-4db1-ae03-ffbcbea8531a","name":"chr-position-ref-alt","originalRequest":{"method":"GET","header":[{"key":"Content-Type","value":"application/json","type":"text"}],"body":{"mode":"raw","raw":"","options":{"raw":{"language":"json"}}},"url":{"raw":"https://api.genoox.com/v2/search/snp/?search_text=chr3-10183824-A-G","protocol":"https","host":["api","genoox","com"],"path":["v2","search","snp",""],"query":[{"key":"search_text","value":"chr3-10183824-A-G","description":"Search text string that represents a variant in a variety of nomenclatures (c.Dot \\ p.Dot \\ chrom position etc.)"}]}},"_postman_previewlanguage":"Text","header":null,"cookie":[],"responseTime":null,"body":"{\n \"variant\": {\n \"chromosome\": \"chr3\",\n \"start_position\": 10183824,\n \"end_position\": 10183824,\n \"ref\": \"A\",\n \"alt\": \"G\",\n \"variation_type\": \"SNP\"\n },\n \"annotations\": {\n \"transcripts\": [\n {\n \"transcript_type\": \"ENSEMBL\",\n \"gene\": \"\",\n \"region\": \"OTHER_REGION\",\n \"effect\": \"OTHER_IMPACT\",\n \"transcript\": \"\",\n \"hgvc_p\": \"\",\n \"hgvc_c\": \"\",\n \"transcripts_count\": 0\n },\n {\n \"transcript_type\": \"REFSEQ\",\n \"gene\": \"VHL\",\n \"region\": \"EXONIC\",\n \"effect\": \"NON_SYNONYMOUS\",\n \"transcript\": \"NM_000551.4\",\n \"hgvc_p\": \"p.Tyr98Cys\",\n \"hgvc_c\": \"c.293A>G\",\n \"transcripts_count\": 3,\n \"exon_number\": 1,\n \"transcript_exon_count\": 3,\n \"closest_exon\": 1,\n \"closest_distance_to_exon\": -48\n }\n ],\n \"frequencies\": {},\n \"predictions\": {\n \"dbsnp\": \"rs864321643\",\n \"aggregated_predictions\": 0.9825842696629212,\n \"mt\": 0.989919,\n \"revel\": 0.938,\n \"fathmm\": -8.96,\n \"metalr\": 0.9977,\n \"genocanyon\": 1.0,\n \"gerp\": 5.17,\n \"ma\": 2.56,\n \"sift\": 0.015,\n \"fitcons\": 0.441713,\n \"splice_ai\": 0.01\n },\n \"clinical_evidences\": {\n \"clinvar\": {\n \"submissions_by_classification\": [\n {\n \"level\": \"PATHOGENIC\",\n \"count\": 2\n },\n {\n \"level\": \"UNCERTAIN_SIGNIFICANCE\",\n \"count\": 1\n },\n {\n \"level\": \"LIKELY_PATHOGENIC\",\n \"count\": 1\n }\n ]\n },\n \"uniprot\": {}\n }\n },\n \"classification\": {\n \"acmg_classification\": \"PATHOGENIC\",\n \"acmg_rules\": [\n {\n \"name\": \"BA1\",\n \"is_met\": false,\n \"influence\": \"BenignStandAlone\"\n },\n {\n \"name\": \"BP1\",\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP2\",\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP3\",\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP4\",\n \"is_met\": false,\n \"influence\": \"StrongPathogenic\"\n },\n {\n \"name\": \"BP5\",\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP6\",\n \"is_met\": false,\n \"influence\": \"SupportingBenign\"\n },\n {\n \"name\": \"BP7\",\n \"is_met\": 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