@molgenis/vip-report-template 5.5.2 → 5.5.4
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- package/package.json +21 -21
- package/src/__tests__/decisionTreeUtils.test.ts +2 -2
- package/src/__tests__/query.test.ts +1 -1
- package/src/__tests__/sortUtils.test.ts +3 -3
- package/src/__tests__/viewUtils.test.ts +2 -2
- package/src/components/GenomeBrowser.tsx +3 -3
- package/src/components/InfoCollapsablePane.tsx +1 -1
- package/src/components/SampleTable.tsx +1 -1
- package/src/components/VariantInfoTable.tsx +1 -1
- package/src/components/VariantSampleTable.tsx +1 -1
- package/src/components/filter/Filter.tsx +0 -8
- package/src/components/filter/FilterHpo.tsx +2 -0
- package/src/components/filter/FilterInheritance.tsx +132 -0
- package/src/components/filter/SampleFilters.tsx +32 -4
- package/src/index.tsx +2 -2
- package/src/mocks/GRCh37/vcf/family.vcf.blob +3 -3
- package/src/utils/ApiUtils.ts +1 -1
- package/src/utils/query.ts +7 -3
- package/src/views/SampleVariant.tsx +2 -2
- package/src/views/SampleVariantConsequence.tsx +1 -1
- package/src/views/SampleVariants.tsx +13 -5
- package/src/views/Variant.tsx +1 -1
- package/src/components/filter/FilterIntegerVid.tsx +0 -37
- package/src/components/filter/FilterIntegerVim.tsx +0 -46
package/package.json
CHANGED
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@@ -1,6 +1,6 @@
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{
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"name": "@molgenis/vip-report-template",
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-
"version": "5.5.
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"version": "5.5.4",
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"description": "Report Template for Variant Call Format (VCF) Report Generator",
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"scripts": {
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"build": "vite build",
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@@ -15,33 +15,33 @@
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},
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"license": "LGPL-3.0",
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"devDependencies": {
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"@molgenis/vite-plugin-inline": "^1.0.
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"@typescript-eslint/eslint-plugin": "^
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"@typescript-eslint/parser": "^
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"@vitest/coverage-v8": "^0.
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"@molgenis/vite-plugin-inline": "^1.0.14",
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"@typescript-eslint/eslint-plugin": "^6.6.0",
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"@typescript-eslint/parser": "^6.6.0",
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"@vitest/coverage-v8": "^0.34.4",
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"bulma": "^0.9.4",
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"eslint": "^8.
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"eslint-config-prettier": "^
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"eslint-plugin-prettier": "^
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"eslint-plugin-solid": "^0.
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"eslint": "^8.49.0",
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"eslint-config-prettier": "^9.0.0",
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"eslint-plugin-prettier": "^5.0.0",
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"eslint-plugin-solid": "^0.13.0",
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"husky": "^8.0.3",
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"jsdom": "^22.1.0",
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"prettier": "^
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"sass": "^1.
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"typescript": "^5.
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"vite": "^4.4.
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"prettier": "^3.0.3",
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"sass": "^1.66.1",
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"typescript": "^5.2.2",
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"vite": "^4.4.9",
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"vite-plugin-solid": "^2.7.0",
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"vitest": "^0.
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"vitest": "^0.34.4"
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},
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"dependencies": {
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"@fortawesome/fontawesome-svg-core": "^6.4.
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"@fortawesome/free-solid-svg-icons": "^6.4.
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"@molgenis/vip-report-api": "^4.4.
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"@molgenis/vip-report-vcf": "^1.4.
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"@solidjs/router": "^0.8.
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"@fortawesome/fontawesome-svg-core": "^6.4.2",
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"@fortawesome/free-solid-svg-icons": "^6.4.2",
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"@molgenis/vip-report-api": "^4.4.3",
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"@molgenis/vip-report-vcf": "^1.4.3",
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"@solidjs/router": "^0.8.3",
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"base64-js": "^1.5.1",
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"igv": "^2.15.
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"solid-js": "^1.7.
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"igv": "^2.15.10",
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"solid-js": "^1.7.11"
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},
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"lint-staged": {
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"src/**/*.{tsx,ts}": [
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@@ -38,7 +38,7 @@ test("Get DecisionTree Path", () => {
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},
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} as unknown as Item<Record>;
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expect(getDecisionTreePath({ info: { CSQ: fieldMetaCsq }, lines: [], format: {}, samples: [] }, variant, 0)).toBe(
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"gnomad&mvl&clinvar&exit"
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"gnomad&mvl&clinvar&exit",
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);
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});
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@@ -70,6 +70,6 @@ test("Get DecisionTree Path - no VIPP", () => {
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},
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} as unknown as Item<Record>;
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expect(getDecisionTreePath({ info: { CSQ: fieldMetaCsq }, lines: [], format: {}, samples: [] }, variant, 0)).toBe(
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undefined
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undefined,
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);
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});
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@@ -178,7 +178,7 @@ describe("query utilities", () => {
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test("sampleFieldKey", () => {
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expect(sampleFieldKey({ id: 1, data: { person: person, index: 0, proband: false } }, fieldMeta1)).toStrictEqual(
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"s/0/CSQ/field1"
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"s/0/CSQ/field1",
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);
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});
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@@ -59,7 +59,7 @@ describe("sort utilities", () => {
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createRecordSort(metadata, {
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property: ["n", "n_string0"],
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compare: "asc",
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})
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}),
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).toStrictEqual({ orders: [{ field: nString0Meta, direction: DIRECTION_ASCENDING }] });
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});
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@@ -68,7 +68,7 @@ describe("sort utilities", () => {
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createRecordSort(metadata, {
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property: ["n", "n_object0", 1],
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compare: "asc",
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})
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}),
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).toStrictEqual({ orders: [{ field: nString2Meta, direction: DIRECTION_ASCENDING }] });
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});
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@@ -77,7 +77,7 @@ describe("sort utilities", () => {
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createRecordSort(metadata, {
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property: ["n", "n_unknown"],
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compare: "asc",
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})
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}),
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).toThrowError();
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});
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});
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@@ -33,13 +33,13 @@ test("Get specific consequence - out of bounds", () => {
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test("Get specific consequence - -1", () => {
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expect(() => getSpecificConsequence([valueArraya, valueArrayb], -1)).toThrowError(
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"Consequences index must be 0 or higher."
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"Consequences index must be 0 or higher.",
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);
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});
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test("Get Consequence Label", () => {
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expect(getConsequenceLabel([valueArraya, valueArrayb], 1, [fieldMeta1, fieldMetaCsq, fieldMeta2])).toBe(
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"testValue2b"
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"testValue2b",
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);
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});
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@@ -3,7 +3,7 @@ import igv, { Browser } from "igv";
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import api from "../Api";
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import { fromByteArray } from "base64-js";
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import { writeVcf } from "@molgenis/vip-report-vcf/src/VcfWriter";
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import { ComposedQuery,
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import { ComposedQuery, Sample } from "@molgenis/vip-report-api/src/Api";
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async function createVcf(contig: string, position: number, samples: Sample[]): Promise<Uint8Array> {
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const query: ComposedQuery = {
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@@ -22,14 +22,14 @@ async function createVcf(contig: string, position: number, samples: Sample[]): P
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const data = await Promise.all([api.getRecordsMeta(), api.getRecords({ query, size: Number.MAX_SAFE_INTEGER })]);
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const vcf = writeVcf(
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{ metadata: data[0], data: data[1].items.map((item) => item.data) },
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{ samples: samples.map((sample) => sample.person.individualId) }
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{ samples: samples.map((sample) => sample.person.individualId) },
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);
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return toBytes(vcf);
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}
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const toBytes = (str: string): Uint8Array => Uint8Array.from(str.split("").map((letter) => letter.charCodeAt(0)));
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const createBrowserConfig = async (contig: string, position: number, samples: Sample[]): Promise<unknown
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const createBrowserConfig = async (contig: string, position: number, samples: Sample[]): Promise<unknown> => {
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const data = await Promise.all([
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api.getFastaGz(contig, position),
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createVcf(contig, position, samples),
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@@ -99,7 +99,7 @@ export const SampleTable: Component<{
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<Show when={getPhenotypes(sample.data.person.individualId).length > 0}>
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<Anchor
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href={`https://vibe.molgeniscloud.org/?phenotypes=${getPhenotypes(
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sample.data.person.individualId
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sample.data.person.individualId,
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)
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.map((feature) => feature.type.id)
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.join(",")}`}
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<tbody>
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<For
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each={Object.values(props.infoFields).filter(
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(info) => !info.nested && props.record.data.n[info.id] !== undefined
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(info) => !info.nested && props.record.data.n[info.id] !== undefined,
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)}
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>
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{(infoField) => (
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record: Item<Record>;
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}> = (props) => {
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const sampleFields = createMemo((): FieldMetadata[] =>
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Object.keys(props.sampleValues[0]).map((fieldId) => props.formatFields[fieldId])
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Object.keys(props.sampleValues[0]).map((fieldId) => props.formatFields[fieldId]),
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);
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return (
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<div style={{ display: "grid" }}>
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import { Component, Match, Switch } from "solid-js";
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import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
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import { FilterCategorical } from "./FilterCategorical";
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import { FilterIntegerVim } from "./FilterIntegerVim";
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import { FilterIntegerGq } from "./FilterIntegerGq";
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import { FilterIntegerDp } from "./FilterIntegerDp";
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import { FilterIntegerVid } from "./FilterIntegerVid";
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import { Item, Query, Sample } from "@molgenis/vip-report-api/src/Api";
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import { FilterClinVar } from "./FilterClinVar";
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import { isAnyCsqInfo } from "../../utils/csqUtils";
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@@ -30,12 +28,6 @@ export const Filter: Component<FilterProps> = (props) => {
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<Match when={props.field.id === "DP"}>
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<FilterIntegerDp {...props} />
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</Match>
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<Match when={props.field.id === "VID"}>
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<FilterIntegerVid {...props} />
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</Match>
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<Match when={props.field.id === "VIM"}>
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<FilterIntegerVim {...props} />
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</Match>
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<Match when={props.field.id === "VIAB"}>
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<FilterAllelicBalance {...props} />
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</Match>
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@@ -44,9 +44,11 @@ export const FilterHpo: Component<
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selectorKey((childQuery as QueryClause).selector) === selectorKey(infoSelector(gadoMeta))
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) {
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if ((childQuery.args as string[]).indexOf("LC") !== -1) {
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+
group["gado_lc"] = true;
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gadoLcChecked = true;
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}
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if ((childQuery.args as string[]).indexOf("HC") !== -1) {
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group["gado_hc"] = true;
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gadoHcChecked = true;
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}
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}
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@@ -0,0 +1,132 @@
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import { Component } from "solid-js";
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import { Checkbox, CheckboxEvent } from "../Checkbox";
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import { selector, selectorKey } from "../../utils/query";
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import { Item, Query, QueryClause, Sample, Selector } from "@molgenis/vip-report-api/src/Api";
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import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
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import { FilterChangeEvent, FilterClearEvent } from "./Filters";
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export type FilterInheritanceProps = {
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vimField: FieldMetadata;
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vidField: FieldMetadata;
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query?: Query;
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onChange: (event: FilterChangeEvent) => void;
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onClear: (event: FilterClearEvent) => void;
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sample: Item<Sample>;
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key: string;
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};
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export const FilterInheritance: Component<FilterInheritanceProps> = (props) => {
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const VIM_TRUE = "VIM_true";
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const VIM_MISSING = "VIM_missing";
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const VID = "VID";
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let isVimMissingChecked = false;
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let isVimTrueChecked = false;
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let isVidChecked = false;
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const vimFieldSelector: Selector = ["s", props.sample.data.index, ...selector(props.vimField)];
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const vidFieldSelector: Selector = ["s", props.sample.data.index, ...selector(props.vidField)];
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if (props.query !== undefined) {
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(props.query?.args as QueryClause[]).forEach((query) => {
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const selectorKeyValue = selectorKey(query.selector);
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if (selectorKeyValue === selectorKey(vimFieldSelector) && query.args === 1) {
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isVimTrueChecked = true;
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} else if (
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selectorKeyValue === selectorKey(vimFieldSelector) &&
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(query.args === null || query.args === undefined)
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) {
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isVimMissingChecked = true;
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} else if (selectorKeyValue === selectorKey(vidFieldSelector) && query.args === 1) {
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isVidChecked = true;
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}
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});
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}
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const onFilterChange = (event: CheckboxEvent) => {
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const queries: QueryClause[] = [];
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if ((event.value === VIM_TRUE && event.checked) || (isVimTrueChecked && event.value !== VIM_TRUE)) {
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queries.push({
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selector: vimFieldSelector,
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operator: "==",
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args: 1,
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});
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isVimTrueChecked = true;
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} else if (isVimTrueChecked && event.value === VIM_TRUE && !event.checked) {
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isVimTrueChecked = false;
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}
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|
+
if ((event.value === VIM_MISSING && event.checked) || (isVimMissingChecked && event.value !== VIM_MISSING)) {
|
|
58
|
+
queries.push(
|
|
59
|
+
{
|
|
60
|
+
selector: vimFieldSelector,
|
|
61
|
+
operator: "==",
|
|
62
|
+
args: null,
|
|
63
|
+
},
|
|
64
|
+
{
|
|
65
|
+
selector: vimFieldSelector,
|
|
66
|
+
operator: "==",
|
|
67
|
+
args: undefined,
|
|
68
|
+
},
|
|
69
|
+
);
|
|
70
|
+
isVimMissingChecked = true;
|
|
71
|
+
} else if (isVimMissingChecked && event.value === VIM_MISSING && !event.checked) {
|
|
72
|
+
isVimMissingChecked = false;
|
|
73
|
+
}
|
|
74
|
+
if ((event.value === VID && event.checked) || (isVidChecked && event.value !== VID)) {
|
|
75
|
+
queries.push({
|
|
76
|
+
selector: vidFieldSelector,
|
|
77
|
+
operator: "==",
|
|
78
|
+
args: 1,
|
|
79
|
+
});
|
|
80
|
+
isVidChecked = true;
|
|
81
|
+
} else if (isVidChecked && event.value === VID && !event.checked) {
|
|
82
|
+
isVidChecked = false;
|
|
83
|
+
}
|
|
84
|
+
if (queries.length > 0) {
|
|
85
|
+
props.onChange({
|
|
86
|
+
key: props.key,
|
|
87
|
+
query: {
|
|
88
|
+
operator: "or",
|
|
89
|
+
args: queries,
|
|
90
|
+
},
|
|
91
|
+
});
|
|
92
|
+
} else {
|
|
93
|
+
props.onClear({ key: props.key });
|
|
94
|
+
}
|
|
95
|
+
};
|
|
96
|
+
|
|
97
|
+
return (
|
|
98
|
+
<>
|
|
99
|
+
<div class="control">
|
|
100
|
+
<Checkbox
|
|
101
|
+
value={VIM_TRUE}
|
|
102
|
+
label="Match"
|
|
103
|
+
desc="Genotypes, affected statuses and known gene inheritance patterns match."
|
|
104
|
+
checked={isVimTrueChecked}
|
|
105
|
+
onChange={onFilterChange}
|
|
106
|
+
/>
|
|
107
|
+
</div>
|
|
108
|
+
<div class="control">
|
|
109
|
+
<Checkbox
|
|
110
|
+
value={VIM_MISSING}
|
|
111
|
+
label="Match: Possible"
|
|
112
|
+
desc="Genotypes, affected statuses match but gene inheritance pattern is unknown. "
|
|
113
|
+
checked={isVimMissingChecked}
|
|
114
|
+
onChange={onFilterChange}
|
|
115
|
+
/>
|
|
116
|
+
</div>
|
|
117
|
+
<div class="control">
|
|
118
|
+
<Checkbox
|
|
119
|
+
value={VID}
|
|
120
|
+
label="De novo"
|
|
121
|
+
desc="On autosomes:
|
|
122
|
+
- available parents do not have the variant, or genotype is missing.
|
|
123
|
+
On the X chromosome:
|
|
124
|
+
- Female proband: same as autosomes.
|
|
125
|
+
- Male proband: Mother does not have the variant, or mother genotype missing."
|
|
126
|
+
checked={isVidChecked}
|
|
127
|
+
onChange={onFilterChange}
|
|
128
|
+
/>
|
|
129
|
+
</div>
|
|
130
|
+
</>
|
|
131
|
+
);
|
|
132
|
+
};
|
|
@@ -1,10 +1,11 @@
|
|
|
1
|
-
import { Component, For } from "solid-js";
|
|
1
|
+
import { Component, For, Show } from "solid-js";
|
|
2
2
|
import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
|
|
3
3
|
import { Item, Sample } from "@molgenis/vip-report-api/src/Api";
|
|
4
4
|
import { Filter } from "./Filter";
|
|
5
5
|
import { FilterQueries } from "../../store";
|
|
6
|
-
import { sampleFieldKey } from "../../utils/query";
|
|
6
|
+
import { sampleCustomKey, sampleFieldKey } from "../../utils/query";
|
|
7
7
|
import { FilterChangeEvent, FilterClearEvent } from "./Filters";
|
|
8
|
+
import { FilterInheritance } from "./FilterInheritance";
|
|
8
9
|
|
|
9
10
|
export const SampleFilters: Component<{
|
|
10
11
|
sample: Item<Sample>;
|
|
@@ -17,11 +18,38 @@ export const SampleFilters: Component<{
|
|
|
17
18
|
throw Error("Cannot create Sample filters without a sample.");
|
|
18
19
|
}
|
|
19
20
|
|
|
21
|
+
const qualityFields = props.fields.filter((field) => field.id !== "VIM" && field.id !== "VID");
|
|
22
|
+
let vimField: FieldMetadata | undefined;
|
|
23
|
+
let vidField: FieldMetadata | undefined;
|
|
24
|
+
props.fields.forEach((field) => {
|
|
25
|
+
if (field.id === "VIM") {
|
|
26
|
+
vimField = field;
|
|
27
|
+
} else if (field.id === "VID") {
|
|
28
|
+
vidField = field;
|
|
29
|
+
}
|
|
30
|
+
});
|
|
31
|
+
|
|
32
|
+
const inheritanceFilterKey: string = sampleCustomKey(props.sample, "VIP_Inheritance");
|
|
20
33
|
return (
|
|
21
34
|
<>
|
|
22
|
-
<
|
|
35
|
+
<Show when={vimField !== undefined && vidField !== undefined}>
|
|
36
|
+
<p class="has-text-weight-semibold">{props.sample.data.person.individualId}: Inheritance</p>
|
|
37
|
+
<div class="field">
|
|
38
|
+
{" "}
|
|
39
|
+
<FilterInheritance
|
|
40
|
+
vimField={vimField as FieldMetadata}
|
|
41
|
+
vidField={vidField as FieldMetadata}
|
|
42
|
+
query={props.queries ? props.queries[inheritanceFilterKey] : undefined}
|
|
43
|
+
onChange={props.onChange}
|
|
44
|
+
onClear={props.onClear}
|
|
45
|
+
sample={props.sample}
|
|
46
|
+
key={inheritanceFilterKey}
|
|
47
|
+
/>
|
|
48
|
+
</div>
|
|
49
|
+
</Show>
|
|
50
|
+
<p class="has-text-weight-semibold">{props.sample.data.person.individualId}: Quality</p>
|
|
23
51
|
<div class="field">
|
|
24
|
-
<For each={
|
|
52
|
+
<For each={qualityFields}>
|
|
25
53
|
{(field) => (
|
|
26
54
|
<>
|
|
27
55
|
{" "}
|
package/src/index.tsx
CHANGED
|
@@ -95,7 +95,7 @@
|
|
|
95
95
|
##VIP_Version=5.6.0
|
|
96
96
|
##VIP_Command=nextflow -C /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/config/nxf_vcf.config,/groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/output/test_snv_proband_trio/custom.cfg -log /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/output/test_snv_proband_trio/.nxf.log run /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/vip_vcf.nf -offline -profile slurm -with-report /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/output/test_snv_proband_trio/nxf_report.html -with-timeline /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/output/test_snv_proband_trio/nxf_timeline.html --input /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/resources/snv_proband_trio.tsv --output /groups/umcg-gcc/tmp01/projects/vip/fastq/umcg-bcharbon/vip/test/output/test_snv_proband_trio -resume
|
|
97
97
|
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Patient Father MotherHasQuiteALongName Sister Nephew Unrelated
|
|
98
|
-
1 1701 . T C . PASS CSQ=C|intergenic_variant|MODIFIER||||||||||||||||1||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|chrom&gene&exit_rm;DP=131;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:1:64802
|
|
98
|
+
1 1701 . T C . PASS CSQ=C|intergenic_variant|MODIFIER||||||||||||||||1||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|chrom&gene&exit_rm;DP=131;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:1:64802:.:OK:HR&GQ&DP&VIM&VID&exit_ok 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
99
99
|
1 10042538 . C T . PASS CSQ=T|missense_variant|MODERATE|NMNAT1|64802|Transcript|NM_001297778.1|protein_coding|5/5||NM_001297778.1:c.619C>T|NP_001284707.1:p.Arg207Trp|778/3796|619/840|207/279|R/W|Cgg/Tgg|rs142968179&CM127756|1||1||1|EntrezGene|||||0.04|0.08||pathogenic||1&1|26103963&22842229&22842230|||||||101|0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.13080463||||||||1.09||AR||LP||||3.917000|1:10042538-10042538|3.88948e-05|0|37133|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,T|downstream_gene_variant|MODIFIER|NMNAT1|64802|Transcript|NM_001297779.2|protein_coding||||||||||rs142968179&CM127756|1|714|1|||EntrezGene||||||||pathogenic||1&1|26103963&22842229&22842230||||||||0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.12802194||||||||1.09||AR||LP||||3.917000|1:10042538-10042538|3.88948e-05|0|37133|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,T|missense_variant|MODERATE|NMNAT1|64802|Transcript|NM_022787.4|protein_coding|5/5||NM_022787.4:c.619C>T|NP_073624.2:p.Arg207Trp|716/3734|619/840|207/279|R/W|Cgg/Tgg|rs142968179&CM127756|1||1|||EntrezGene|||||0.04|0.08||pathogenic||1&1|26103963&22842229&22842230|||||||101|0|-36|-16|17|0.00|0.00|0.00|0.00|NMNAT1|VUS|0.14871566||||||||1.09||AR||LP||||3.917000|1:10042538-10042538|3.88948e-05|0|37133|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp;VIPC_S=LQ GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:10:AR:1:64802:1:LQ,LQ,LQ:HR&GQ&exit_lq,HR&GQ&exit_lq,HR&GQ&exit_lq 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
100
100
|
1 16375583 . GA G . PASS CSQ=-|intron_variant|MODIFIER|CLCNKB|1188|Transcript|NM_000085.5|protein_coding||7/19|NM_000085.5:c.656-31del|||||||rs751608665|1||1||1|EntrezGene||||||||uncertain_significance&pathogenic||1|||||||||20|45|-14|-45|0.05|0.00|0.00|0.00|CLCNKB|VUS|0.032756623||||||HP:0000951||1.439||AR||LP||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,-|frameshift_variant|HIGH|CLCNKB|1188|Transcript|NM_001165945.2|protein_coding|1/13||NM_001165945.2:c.118del|NP_001159417.2:p.Arg40GlyfsTer4|328/2174|118/1554|40/517|R/X|Agg/gg|rs751608665|1||1|||EntrezGene||||||||uncertain_significance&pathogenic||1|||||||||20|45|-14|-45|0.05|0.00|0.00|0.00|CLCNKB|VUS|0.9124473||||||HP:0000951||1.439||AR||LP||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000001994|promoter||||||||||rs751608665|1|||||||||||||uncertain_significance&pathogenic||1|||||||||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm,-|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000922299|CTCF_binding_site||||||||||rs751608665|1|||||||||||||uncertain_significance&pathogenic||1|||||||||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00533524886|||||||||||rs751608665|1||1|||||||||||uncertain_significance&pathogenic||1|||ENSPFM0617|1|N||ZBTB7B&ZBTB7A&ZBTB7C||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529659450|||||||||||rs751608665|1||1|||||||||||uncertain_significance&pathogenic||1|||ENSPFM0566|3|N||TEAD4::MAX||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00529435523|||||||||||rs751608665|1||1|||||||||||uncertain_significance&pathogenic||1|||ENSPFM0544|3|N||TEAD4::FIGLA||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm,-|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00910553844|||||||||||rs751608665|1||1|||||||||||uncertain_significance&pathogenic||1|||ENSPFM0383|17|N||MGA::EVX1||||||||||||||||||||||||||||-0.860000|1:16375584-16375585|0.000548455|0|638508|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm;VIPC_S=OK GT:AD:DP:GQ:VI:VIC:VID:VIG:VIM:VIPC_S:VIPP_S:VIS 1|0:25,25:50:50:AR:1_16376412_G_A,1_16376412_G_N:0:1188:1:OK,OK,OK,OK,OK,OK,OK,OK:HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok:AR_C 1|0:25,25:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:.
|
|
101
101
|
1 16376412 n_alt G N . PASS CSQ=N|splice_donor_variant|HIGH|CLCNKB|1188|Transcript|NM_000085.5|protein_coding||10/19||||||||CS1211892&CS971662|1||1||1|EntrezGene||||||||||1&1||||||||||||||||||VUS|0.9316635||||||HP:0000951||1.439||AR||||||4.909000||||||||LP|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&spliceAI&utr5&capice&exit_lp,N|splice_donor_variant|HIGH|CLCNKB|1188|Transcript|NM_001165945.2|protein_coding||3/12||||||||CS1211892&CS971662|1||1|||EntrezGene||||||||||1&1||||||||||||||||||VUS|0.9316635||||||HP:0000951||1.439||AR||||||4.909000||||||||LP|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&spliceAI&utr5&capice&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VIC:VID:VIG:VIM:VIPC_S:VIPP_S:VIS 1|0:5,45:50:.:AR,AD:1_16376412_G_A,1_16375583_GA_G:1:1188:1:OK,OK:HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok:AR_C 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.:.:.
|
|
@@ -103,9 +103,9 @@
|
|
|
103
103
|
1 17349219 g_ref G A . PASS CSQ=A|missense_variant|MODERATE|SDHB|6390|Transcript|NM_003000.3|protein_coding|7/8||NM_003000.3:c.649C>T|NP_002991.2:p.Arg217Cys|662/1015|649/843|217/280|R/C|Cgc/Tgc|rs200245469&CM094752&CM1210440&COSV64965760|1||-1||1|EntrezGene|||||0|1||likely_pathogenic|0&0&0&1|1&1&1&1||||||||180|28|6|6|5|0.00|0.00|0.00|0.00|SDHB|VUS|0.9769107||||||HP:0000951||2.452||AD&AR||LP||||9.093000||||183735|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:1:6390:1:OK:HR&GQ&DP&VIM&exit_ok 1|0:45,5:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 1|0:25,25:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
104
104
|
1 17355094 . C T . PASS CSQ=T|splice_donor_variant|HIGH|SDHB|6390|Transcript|NM_003000.3|protein_coding||4/7|NM_003000.3:c.423+1G>A|||||||rs398122805&CS056774&CS062098&COSV64965540|1||-1||1|EntrezGene||||||||pathogenic|0&0&0&1|1&1&1&1|21348866&17667967&17804857&16405730&21565294&15383933||||||||-49|12|26|1|0.00|0.00|0.14|0.97|SDHB|VUS|0.991252||||||HP:0000951||2.452||AD&AR||LP||||7.131000|1:17355094-17355094|1.19344e-05|0|29896|Pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|0:5,45:50:50:AD:1:6390:1:OK:HR&GQ&DP&VIM&exit_ok 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
105
105
|
1 152520788 symbolic1 A <DEL> . PASS CSQ=deletion|transcript_ablation|HIGH|LCE3D|84648|Transcript|NM_032563.2|protein_coding|||||||||||1||-1||1|EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&annotSV&spliceAI&utr5&capice&exit_vus,deletion|upstream_gene_variant|MODIFIER|LCE3C|353144|Transcript|NM_178434.3|protein_coding|||||||||||1|2608|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&annotSV&spliceAI&utr5&capice&exit_vus,deletion|transcript_ablation|HIGH|LCE3E|353145|Transcript|NM_178435.4|protein_coding|||||||||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&annotSV&spliceAI&utr5&capice&exit_vus,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946440||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787329||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000013752||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946442||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000946443||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001505919||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787330||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787331||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001787332||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00701519957||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00905971885||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00522719201||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm;SVLEN=-49314;SVTYPE=DEL;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:1:0:OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK:HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok 0|0:50,0:50:50:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:. 1|0:25,25:50:50:.:.:.:.:.
|
|
106
|
-
2 321682 . T <DEL> . PASS CSQ=deletion|non_coding_transcript_exon_variant&intron_variant&feature_truncation|MODIFIER|LINC01865|105373350|Transcript|NR_146953.1|lncRNA|3/4|3/3|||685-?/2100||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0|||||||||VUS|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&annotSV&exit_vus;END=321887;SVLEN=-205;SVTYPE=DEL;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:
|
|
106
|
+
2 321682 . T <DEL> . PASS CSQ=deletion|non_coding_transcript_exon_variant&intron_variant&feature_truncation|MODIFIER|LINC01865|105373350|Transcript|NR_146953.1|lncRNA|3/4|3/3|||685-?/2100||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||||||||3|1A_(cf_Gene_count%2C_RE_gene%2C_+0.00)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(1_gene%2C_+0.00)%3B5F_(+0.00)|0.0|||||||||VUS|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&annotSV&exit_vus;END=321887;SVLEN=-205;SVTYPE=DEL;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:0:64802:.:OK:HR&GQ&DP&VIM&VID&exit_ok 1|0:50,0:50:50:.:.:.:.:.:. 1|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
107
107
|
2 6693415 . T <DEL> . PASS CSQ=deletion|regulatory_region_ablation®ulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001914803||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524064657||||||||||||1||||1|||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524052275||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524121752||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524688093||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00525576244||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524108762||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524259723||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524175972||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524198224||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524134566||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00769910345||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524344258||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524278495||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524312437||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524083163||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524770333||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00829572188||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524396085||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00909212078||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524214908||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524150456||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524239498||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00524095954||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|TFBS_ablation&TF_binding_site_variant|MODERATE|||MotifFeature|ENSM00530094654||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm,deletion|intergenic_variant|MODIFIER||||||||||||||||1|||||||||||||||||||||||||||||||||||||||||||||||3|1B_(cf_Gene_count%2C_RE_gene%2C_-0.60)%3B2B_(cf_po_P_loss_source%2C_HI_and_OMIM_morbid%2C_+0.00)%3B3A_(0_gene%2C_+0.00)%3B5F_(+0.00)|-0.6|||||||||LQ|chrom&gene&exit_rm;END=6707844;SVLEN=-14429;SVTYPE=DEL;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,50:50:50:AR:1:64802:0:OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK,OK:HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok,HR&GQ&DP&VIM&VID&exit_ok 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
108
|
-
4 106320294 . G A . PASS CSQ=A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_006903.4|protein_coding|7/11||NM_006903.4:c.596C>T|NP_008834.3:p.Pro199Leu|616/1586|596/918|199/305|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.985||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.7474259||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176866.2|protein_coding|4/8||NM_176866.2:c.377C>T|NP_789842.2:p.Pro126Leu|397/1367|377/699|126/232|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.992||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.75460654||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176867.3|protein_coding|2/6||NM_176867.3:c.185C>T|NP_789843.2:p.Pro62Leu|205/1175|185/507|62/168|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.995||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.89774835||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176869.3|protein_coding|8/12||NM_176869.3:c.683C>T|NP_789845.1:p.Pro228Leu|695/1665|683/1005|228/334|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1||1|EntrezGene|||||0|0.993||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.77676606||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001994744|promoter_flanking_region||||||||||rs138215926&CM1610192&COSV58994362|1|||||||||||||pathogenic|0&0&1|1&1&1|27523597||||||||||||||||||||||||||||||||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|
|
|
108
|
+
4 106320294 . G A . PASS CSQ=A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_006903.4|protein_coding|7/11||NM_006903.4:c.596C>T|NP_008834.3:p.Pro199Leu|616/1586|596/918|199/305|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.985||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.7474259||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176866.2|protein_coding|4/8||NM_176866.2:c.377C>T|NP_789842.2:p.Pro126Leu|397/1367|377/699|126/232|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.992||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.75460654||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176867.3|protein_coding|2/6||NM_176867.3:c.185C>T|NP_789843.2:p.Pro62Leu|205/1175|185/507|62/168|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1|||EntrezGene|||||0|0.995||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.89774835||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|missense_variant|MODERATE|PPA2|27068|Transcript|NM_176869.3|protein_coding|8/12||NM_176869.3:c.683C>T|NP_789845.1:p.Pro228Leu|695/1665|683/1005|228/334|P/L|cCg/cTg|rs138215926&CM1610192&COSV58994362|1||-1||1|EntrezGene|||||0|0.993||pathogenic|0&0&1|1&1&1|27523597|||||||98|-34|27|-2|-43|0.00|0.00|0.00|0.00|PPA2|VUS|0.77676606||||||||-1.922||AR||LP||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LP|chrom&gene&filter&vkgl&exit_lp,A|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001994744|promoter_flanking_region||||||||||rs138215926&CM1610192&COSV58994362|1|||||||||||||pathogenic|0&0&1|1&1&1|27523597||||||||||||||||||||||||||||||||||9.359000|4:106320294-106320294|0.000211803|0|372226|Pathogenic/Likely_pathogenic||criteria_provided&_multiple_submitters&_no_conflicts|LQ|chrom&gene&exit_rm;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|0:0,50:50:50:AD:1:27068:0:.:HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok,HR&GQ&DP&VIM&exit_ok 0|0:25,25:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 1|1:0,50:50:50:.:.:.:.:.:.
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109
109
|
9 107546633 . AAAGAT A . PASS CSQ=-|frameshift_variant|HIGH|ABCA1|19|Transcript|NM_005502.4|protein_coding|50/50||NM_005502.4:c.6744_6748del|NP_005493.2:p.Phe2250ThrfsTer3|7057-7061/10408|6744-6748/6786|2248-2250/2261|TSF/TX|acATCTTtt/actt||1||-1||1|EntrezGene||||||||||||||||||||||||||||VUS|0.97944254|||||||LC|4.243||AD&AR||||||||||||||LP|chrom&gene&filter&vkgl&clinVar&gnomAD&sv&spliceAI&utr5&capice&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|1:0,10:10:.:AR:0:19:1:OK:HR&GQ&DP&VIM&exit_ok 0|1:1,49:50:50:.:.:.:.:.:. 1|0:0,50:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
110
110
|
9 107584864 . AC A . PASS CSQ=-|frameshift_variant|HIGH|ABCA1|19|Transcript|NM_005502.4|protein_coding|19/50||NM_005502.4:c.2740del|NP_005493.2:p.Val914TrpfsTer8|3053/10408|2740/6786|914/2261|V/X|Gtg/tg||1||-1||1|EntrezGene|||||||||||||||||||33|-42|28|1|0.00|0.00|0.10|0.00|ABCA1|VUS|0.998016||||||HP:0000951|LC|4.243||AD&AR||LP||||4.010000||||||||LP|chrom&gene&filter&vkgl&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|0:10,90:50:50:AD:1:19:1:OK:HR&GQ&DP&VIM&exit_ok 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
|
111
111
|
9 107584865 . C G . PASS CSQ=-|frameshift_variant|HIGH|ABCA1|19|Transcript|NM_005502.4|protein_coding|19/50||NM_005502.4:c.2740del|NP_005493.2:p.Val914TrpfsTer8|3053/10408|2740/6786|914/2261|V/X|Gtg/tg||1||-1||1|EntrezGene|||||||||||||||||||33|-42|28|1|0.00|0.00|0.10|0.00|ABCA1|VUS|0.998016||||||HP:0003124|HC|4.243||AD&AR||LP||||4.010000||||||||LP|chrom&gene&filter&vkgl&exit_lp;VIPC_S=OK GT:AD:DP:GQ:VI:VID:VIG:VIM:VIPC_S:VIPP_S 1|0:10,90:50:50:AD:1:19:1:OK:HR&GQ&DP&VIM&exit_ok 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:. 0|0:50,0:50:50:.:.:.:.:.:.
|
package/src/utils/ApiUtils.ts
CHANGED
|
@@ -124,7 +124,7 @@ export async function fetchRecords(params: Params) {
|
|
|
124
124
|
order.field.parent?.id === "CSQ" &&
|
|
125
125
|
isNumerical(order.field) &&
|
|
126
126
|
order.field.number.type === "NUMBER" &&
|
|
127
|
-
order.field.number.count === 1
|
|
127
|
+
order.field.number.count === 1,
|
|
128
128
|
);
|
|
129
129
|
|
|
130
130
|
const fieldMetas = (recordsMeta.info.CSQ.nested as NestedFieldMetadata).items;
|
package/src/utils/query.ts
CHANGED
|
@@ -16,7 +16,7 @@ export function createSampleQuery(
|
|
|
16
16
|
sample: Item<Sample>,
|
|
17
17
|
search: string | undefined,
|
|
18
18
|
filters: FilterQueries | undefined,
|
|
19
|
-
metadata: Metadata
|
|
19
|
+
metadata: Metadata,
|
|
20
20
|
): Query | null {
|
|
21
21
|
const genotypeSelector: Selector = ["s", sample.data.index, "GT", "t"];
|
|
22
22
|
const sampleQuery: Query = {
|
|
@@ -35,7 +35,7 @@ export function createSampleQuery(
|
|
|
35
35
|
export function createQuery(
|
|
36
36
|
search: string | undefined,
|
|
37
37
|
filters: FilterQueries | undefined,
|
|
38
|
-
metadata: Metadata
|
|
38
|
+
metadata: Metadata,
|
|
39
39
|
): Query | null {
|
|
40
40
|
let query: Query | null;
|
|
41
41
|
|
|
@@ -63,7 +63,7 @@ function createSearchQueryClausesInfo(search: string, infoMetadata: InfoMetadata
|
|
|
63
63
|
if (infoMetadata.nested) {
|
|
64
64
|
for (let i = 0; i < infoMetadata.nested.items.length; ++i) {
|
|
65
65
|
clauses.push(
|
|
66
|
-
...createSearchQueryClausesInfo(search, infoMetadata.nested.items[i], [...selector, "*", i.toString()])
|
|
66
|
+
...createSearchQueryClausesInfo(search, infoMetadata.nested.items[i], [...selector, "*", i.toString()]),
|
|
67
67
|
);
|
|
68
68
|
}
|
|
69
69
|
} else {
|
|
@@ -141,6 +141,10 @@ export function sampleFieldKey(sample: Item<Sample>, field: FieldMetadata): stri
|
|
|
141
141
|
return selectorKey(sampleSelector(sample, field));
|
|
142
142
|
}
|
|
143
143
|
|
|
144
|
+
export function sampleCustomKey(sample: Item<Sample>, key: string): string {
|
|
145
|
+
return selectorKey(["s", sample.data.index, key]);
|
|
146
|
+
}
|
|
147
|
+
|
|
144
148
|
function sortPath(field: FieldMetadata): SortPath {
|
|
145
149
|
return selector(field).filter((part) => part !== "*");
|
|
146
150
|
}
|
|
@@ -70,7 +70,7 @@ export const SampleVariant: Component<{
|
|
|
70
70
|
<Show
|
|
71
71
|
when={
|
|
72
72
|
Object.values(props.recordsMeta.info).filter(
|
|
73
|
-
(info) => !info.nested && props.record.data.n[info.id] !== undefined
|
|
73
|
+
(info) => !info.nested && props.record.data.n[info.id] !== undefined,
|
|
74
74
|
).length > 0
|
|
75
75
|
}
|
|
76
76
|
>
|
|
@@ -87,7 +87,7 @@ export const SampleVariant: Component<{
|
|
|
87
87
|
sampleValues={getRecordSamples(
|
|
88
88
|
props.record.data,
|
|
89
89
|
props.sample.data,
|
|
90
|
-
props.pedigreeSamples.map((item) => item.data)
|
|
90
|
+
props.pedigreeSamples.map((item) => item.data),
|
|
91
91
|
)}
|
|
92
92
|
record={props.record}
|
|
93
93
|
/>
|
|
@@ -104,7 +104,7 @@ export const SampleVariantConsequence: Component<{
|
|
|
104
104
|
sampleValues={getRecordSamples(
|
|
105
105
|
props.variant.data,
|
|
106
106
|
props.sample.data,
|
|
107
|
-
props.pedigreeSamples.map((item) => item.data)
|
|
107
|
+
props.pedigreeSamples.map((item) => item.data),
|
|
108
108
|
)}
|
|
109
109
|
record={props.variant}
|
|
110
110
|
/>
|
|
@@ -14,7 +14,15 @@ import { SearchBox } from "../components/SearchBox";
|
|
|
14
14
|
import { Sort, SortEvent } from "../components/Sort";
|
|
15
15
|
import { Pager } from "../components/record/Pager";
|
|
16
16
|
import { RecordDownload } from "../components/record/RecordDownload";
|
|
17
|
-
import {
|
|
17
|
+
import {
|
|
18
|
+
createSampleQuery,
|
|
19
|
+
infoSelector,
|
|
20
|
+
infoSortPath,
|
|
21
|
+
sampleCustomKey,
|
|
22
|
+
sampleSelector,
|
|
23
|
+
selector,
|
|
24
|
+
selectorKey,
|
|
25
|
+
} from "../utils/query";
|
|
18
26
|
import { VariantsSampleTable } from "../components/VariantsSampleTable";
|
|
19
27
|
import {
|
|
20
28
|
fetchHtsFileMetadata,
|
|
@@ -112,7 +120,7 @@ export const SampleVariants: Component<{
|
|
|
112
120
|
operator: "or",
|
|
113
121
|
args: queries,
|
|
114
122
|
},
|
|
115
|
-
selectorKey(selectorHpo)
|
|
123
|
+
selectorKey(selectorHpo),
|
|
116
124
|
);
|
|
117
125
|
}
|
|
118
126
|
|
|
@@ -141,7 +149,7 @@ export const SampleVariants: Component<{
|
|
|
141
149
|
},
|
|
142
150
|
],
|
|
143
151
|
},
|
|
144
|
-
|
|
152
|
+
sampleCustomKey(props.sample, "VIP_Inheritance"),
|
|
145
153
|
);
|
|
146
154
|
}
|
|
147
155
|
const gqField = props.recordsMeta.format?.GQ;
|
|
@@ -154,7 +162,7 @@ export const SampleVariants: Component<{
|
|
|
154
162
|
operator: ">=",
|
|
155
163
|
args: 20,
|
|
156
164
|
},
|
|
157
|
-
selectorKey(selectorGq)
|
|
165
|
+
selectorKey(selectorGq),
|
|
158
166
|
);
|
|
159
167
|
}
|
|
160
168
|
const viabField = props.recordsMeta.format?.VIAB;
|
|
@@ -162,7 +170,7 @@ export const SampleVariants: Component<{
|
|
|
162
170
|
actions.setSampleVariantsFilterQuery(
|
|
163
171
|
props.sample,
|
|
164
172
|
getAllelicBalanceQuery(props.sample.data.index),
|
|
165
|
-
selectorKey(["s", props.sample.data.index, ...selector(viabField)])
|
|
173
|
+
selectorKey(["s", props.sample.data.index, ...selector(viabField)]),
|
|
166
174
|
);
|
|
167
175
|
}
|
|
168
176
|
}
|
package/src/views/Variant.tsx
CHANGED
|
@@ -29,7 +29,7 @@ export const Variant: Component = () => {
|
|
|
29
29
|
<Show
|
|
30
30
|
when={
|
|
31
31
|
Object.values(recordsMetadata().info).filter(
|
|
32
|
-
(info) => !info.nested && variant().data.n[info.id] !== undefined
|
|
32
|
+
(info) => !info.nested && variant().data.n[info.id] !== undefined,
|
|
33
33
|
).length > 0
|
|
34
34
|
}
|
|
35
35
|
>
|
|
@@ -1,37 +0,0 @@
|
|
|
1
|
-
import { Component } from "solid-js";
|
|
2
|
-
import { FilterProps } from "./Filter";
|
|
3
|
-
import { Checkbox, CheckboxEvent } from "../Checkbox";
|
|
4
|
-
import { selector, selectorKey } from "../../utils/query";
|
|
5
|
-
import { Item, Sample, Selector } from "@molgenis/vip-report-api/src/Api";
|
|
6
|
-
|
|
7
|
-
export const FilterIntegerVid: Component<FilterProps> = (props) => {
|
|
8
|
-
const onFilterChange = (event: CheckboxEvent) => {
|
|
9
|
-
const fieldSelector: Selector = ["s", (props.sample as Item<Sample>).data.index, ...selector(props.field)];
|
|
10
|
-
if (event.checked)
|
|
11
|
-
props.onChange({
|
|
12
|
-
key: selectorKey(fieldSelector),
|
|
13
|
-
query: {
|
|
14
|
-
selector: fieldSelector,
|
|
15
|
-
operator: "==",
|
|
16
|
-
args: 1,
|
|
17
|
-
},
|
|
18
|
-
});
|
|
19
|
-
else props.onClear({ key: selectorKey(fieldSelector) });
|
|
20
|
-
};
|
|
21
|
-
|
|
22
|
-
return (
|
|
23
|
-
<div class="control">
|
|
24
|
-
<Checkbox
|
|
25
|
-
label="Inheritance: de novo"
|
|
26
|
-
desc="Inheritance De Novo:
|
|
27
|
-
On autosomes:
|
|
28
|
-
- available parents do not have the variant, or genotype is missing.
|
|
29
|
-
On the X chromosome:
|
|
30
|
-
- Female proband: same as autosomes.
|
|
31
|
-
- Male proband: Mother does not have the variant, or mother genotype missing."
|
|
32
|
-
checked={props.query && props.query.args === 1}
|
|
33
|
-
onChange={onFilterChange}
|
|
34
|
-
/>
|
|
35
|
-
</div>
|
|
36
|
-
);
|
|
37
|
-
};
|
|
@@ -1,46 +0,0 @@
|
|
|
1
|
-
import { Component } from "solid-js";
|
|
2
|
-
import { FilterProps } from "./Filter";
|
|
3
|
-
import { Checkbox, CheckboxEvent } from "../Checkbox";
|
|
4
|
-
import { selector, selectorKey } from "../../utils/query";
|
|
5
|
-
import { Item, Sample, Selector } from "@molgenis/vip-report-api/src/Api";
|
|
6
|
-
|
|
7
|
-
export const FilterIntegerVim: Component<FilterProps> = (props) => {
|
|
8
|
-
const onFilterChange = (event: CheckboxEvent) => {
|
|
9
|
-
const fieldSelector: Selector = ["s", (props.sample as Item<Sample>).data.index, ...selector(props.field)];
|
|
10
|
-
if (event.checked)
|
|
11
|
-
props.onChange({
|
|
12
|
-
key: selectorKey(fieldSelector),
|
|
13
|
-
query: {
|
|
14
|
-
operator: "or",
|
|
15
|
-
args: [
|
|
16
|
-
{
|
|
17
|
-
selector: fieldSelector,
|
|
18
|
-
operator: "==",
|
|
19
|
-
args: 1,
|
|
20
|
-
},
|
|
21
|
-
{
|
|
22
|
-
selector: fieldSelector,
|
|
23
|
-
operator: "==",
|
|
24
|
-
args: null,
|
|
25
|
-
},
|
|
26
|
-
{
|
|
27
|
-
selector: fieldSelector,
|
|
28
|
-
operator: "==",
|
|
29
|
-
args: undefined,
|
|
30
|
-
},
|
|
31
|
-
],
|
|
32
|
-
},
|
|
33
|
-
});
|
|
34
|
-
else props.onClear({ key: selectorKey(fieldSelector) });
|
|
35
|
-
};
|
|
36
|
-
|
|
37
|
-
return (
|
|
38
|
-
<div class="control">
|
|
39
|
-
<Checkbox
|
|
40
|
-
label="Inheritance: match"
|
|
41
|
-
checked={props.query && props.query.args !== undefined}
|
|
42
|
-
onChange={onFilterChange}
|
|
43
|
-
/>
|
|
44
|
-
</div>
|
|
45
|
-
);
|
|
46
|
-
};
|