To add supporting information for a variant
You can add supporting information for a variant. Typically, this is information that you used to determine the appropriate pathogenicity for the variant. You can reference information from an external database or from a web page as supporting information. The supporting information is displayed in the Supporting Information pane on the Variant tab. (See
Supporting Information pane.)
1. If you have not done so already, do one of the following to open the Variant tab:
• Double-click a variant on the Variants sub-tab on the Patient tab.
• Double-click a variant on the Variant sub-tab on the Panel Statistics tab.
• Right-click a variant on the Sample Variant Data sub-tab on the Sample tab, and on the context menu that opens, select Variant Details.
• Double-click a variant on the Sample Variant Data sub-tab on the Sample tab.
2. Do one of the following:
• To reference information from any reference track, go to
Step 3. • To reference a specific web page, go to
Step 8. 3. In the appropriate reference information pane, review the information that you are using for supporting information. See
Reference information panes.
| This information is included in the References folder. Use the scroll bar at the bottom of the pane to view the available reference information for the variant. Note that all reference information is not available for all variants. |
4. Right-click any information in a pane, and on the context menu that opens, click Submit As Supporting Info.
The Supporting Info Submit dialog box opens. The dialog box lists all the reference information and the corresponding values that can be selected from the pane as supporting information.
5. Select the information that you are using as supporting information, and then click OK.
The Add Supporting Info dialog box closes. The information is displayed in the Supporting Information pane. See
Supporting Information pane.6. Repeat
Step 3 through
Step 5 for each piece of reference information that you are adding as supporting information.
7. Optionally, continue to
Step 8 to also add supporting information for the variant from a web page.
8. Right-click anywhere on the Variant pane or the Supporting Information pane, and on the context menu that opens, click Submit Supporting Hyperlink.
The Add Supporting Info (for a web page) dialog box opens. By default, the dialog box displays the dbSNP page for the variant.
9. Do one of the following:
• Click the Use This Link icon

to accept the NCBI dbSNP page. The URL is added under Supporting Info on the dialog box.
• Enter a new URL, click the Go To icon

to navigate to the web page, and then click the Use This Link icon

to accept the web page. The URL is added under Supporting Info on the dialog box.
| You can also use the Add Supporting Info dialog box like a standard web browser and search for the necessary URL. |
10. Click OK.
The Add Supporting Info dialog box closes. The URL is displayed in the Supporting Information pane on the Variant tab. See
Supporting Information pane.