@molgenis/vip-report-template 5.5.3 → 5.5.5

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 CHANGED
@@ -1,6 +1,6 @@
1
1
  {
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2
  "name": "@molgenis/vip-report-template",
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- "version": "5.5.3",
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+ "version": "5.5.5",
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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",
@@ -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": "^1.0.13",
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- "@typescript-eslint/eslint-plugin": "^5.61.0",
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- "@typescript-eslint/parser": "^5.61.0",
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- "@vitest/coverage-v8": "^0.32.4",
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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": "^8.44.0",
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- "eslint-config-prettier": "^8.8.0",
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- "eslint-plugin-prettier": "^4.2.1",
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- "eslint-plugin-solid": "^0.12.1",
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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": "^2.8.8",
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- "sass": "^1.63.6",
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- "typescript": "^5.1.6",
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- "vite": "^4.4.0",
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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": "^0.32.4"
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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": "^6.4.0",
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- "@fortawesome/free-solid-svg-icons": "^6.4.0",
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- "@molgenis/vip-report-api": "^4.4.2",
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- "@molgenis/vip-report-vcf": "^1.4.2",
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- "@solidjs/router": "^0.8.2",
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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": "^4.4.4",
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+ "@molgenis/vip-report-vcf": "^1.4.4",
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+ "@solidjs/router": "^0.8.3",
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  "base64-js": "^1.5.1",
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- "igv": "^2.15.8",
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- "solid-js": "^1.7.7"
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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}": [
@@ -38,7 +38,7 @@ test("Get DecisionTree Path", () => {
38
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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(
73
- undefined
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+ undefined,
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  );
75
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  });
@@ -178,7 +178,7 @@ describe("query utilities", () => {
178
178
 
179
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  test("sampleFieldKey", () => {
180
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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",
182
182
  );
183
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  });
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184
 
@@ -59,7 +59,7 @@ describe("sort utilities", () => {
59
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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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+ }),
72
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  ).toStrictEqual({ orders: [{ field: nString2Meta, direction: DIRECTION_ASCENDING }] });
73
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  });
74
74
 
@@ -77,7 +77,7 @@ describe("sort utilities", () => {
77
77
  createRecordSort(metadata, {
78
78
  property: ["n", "n_unknown"],
79
79
  compare: "asc",
80
- })
80
+ }),
81
81
  ).toThrowError();
82
82
  });
83
83
  });
@@ -33,13 +33,13 @@ test("Get specific consequence - out of bounds", () => {
33
33
 
34
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  test("Get specific consequence - -1", () => {
35
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  expect(() => getSpecificConsequence([valueArraya, valueArrayb], -1)).toThrowError(
36
- "Consequences index must be 0 or higher."
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+ "Consequences index must be 0 or higher.",
37
37
  );
38
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  });
39
39
 
40
40
  test("Get Consequence Label", () => {
41
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  expect(getConsequenceLabel([valueArraya, valueArrayb], 1, [fieldMeta1, fieldMetaCsq, fieldMeta2])).toBe(
42
- "testValue2b"
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+ "testValue2b",
43
43
  );
44
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  });
45
45
 
@@ -3,7 +3,7 @@ import igv, { Browser } from "igv";
3
3
  import api from "../Api";
4
4
  import { fromByteArray } from "base64-js";
5
5
  import { writeVcf } from "@molgenis/vip-report-vcf/src/VcfWriter";
6
- import { ComposedQuery, Cram, Sample } from "@molgenis/vip-report-api/src/Api";
6
+ import { ComposedQuery, Sample } from "@molgenis/vip-report-api/src/Api";
7
7
 
8
8
  async function createVcf(contig: string, position: number, samples: Sample[]): Promise<Uint8Array> {
9
9
  const query: ComposedQuery = {
@@ -22,14 +22,14 @@ async function createVcf(contig: string, position: number, samples: Sample[]): P
22
22
  const data = await Promise.all([api.getRecordsMeta(), api.getRecords({ query, size: Number.MAX_SAFE_INTEGER })]);
23
23
  const vcf = writeVcf(
24
24
  { metadata: data[0], data: data[1].items.map((item) => item.data) },
25
- { samples: samples.map((sample) => sample.person.individualId) }
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+ { samples: samples.map((sample) => sample.person.individualId) },
26
26
  );
27
27
  return toBytes(vcf);
28
28
  }
29
29
 
30
30
  const toBytes = (str: string): Uint8Array => Uint8Array.from(str.split("").map((letter) => letter.charCodeAt(0)));
31
31
 
32
- const createBrowserConfig = async (contig: string, position: number, samples: Sample[]): Promise<unknown | null> => {
32
+ const createBrowserConfig = async (contig: string, position: number, samples: Sample[]): Promise<unknown> => {
33
33
  const data = await Promise.all([
34
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  api.getFastaGz(contig, position),
35
35
  createVcf(contig, position, samples),
@@ -39,7 +39,7 @@ export const InfoCollapsablePane: Component<{
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39
  });
40
40
  }
41
41
  throw new Error(`Nested field '${field.id}' needs to have a parent field.`);
42
- })
42
+ }),
43
43
  );
44
44
  return (
45
45
  <>
@@ -99,7 +99,7 @@ export const SampleTable: Component<{
99
99
  <Show when={getPhenotypes(sample.data.person.individualId).length > 0}>
100
100
  <Anchor
101
101
  href={`https://vibe.molgeniscloud.org/?phenotypes=${getPhenotypes(
102
- sample.data.person.individualId
102
+ sample.data.person.individualId,
103
103
  )
104
104
  .map((feature) => feature.type.id)
105
105
  .join(",")}`}
@@ -16,7 +16,7 @@ export const VariantInfoTable: Component<{
16
16
  <tbody>
17
17
  <For
18
18
  each={Object.values(props.infoFields).filter(
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- (info) => !info.nested && props.record.data.n[info.id] !== undefined
19
+ (info) => !info.nested && props.record.data.n[info.id] !== undefined,
20
20
  )}
21
21
  >
22
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  {(infoField) => (
@@ -13,7 +13,7 @@ export const VariantSampleTable: Component<{
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13
  record: Item<Record>;
14
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  }> = (props) => {
15
15
  const sampleFields = createMemo((): FieldMetadata[] =>
16
- Object.keys(props.sampleValues[0]).map((fieldId) => props.formatFields[fieldId])
16
+ Object.keys(props.sampleValues[0]).map((fieldId) => props.formatFields[fieldId]),
17
17
  );
18
18
  return (
19
19
  <div style={{ display: "grid" }}>
@@ -1,10 +1,8 @@
1
1
  import { Component, Match, Switch } from "solid-js";
2
2
  import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
3
3
  import { FilterCategorical } from "./FilterCategorical";
4
- import { FilterIntegerVim } from "./FilterIntegerVim";
5
4
  import { FilterIntegerGq } from "./FilterIntegerGq";
6
5
  import { FilterIntegerDp } from "./FilterIntegerDp";
7
- import { FilterIntegerVid } from "./FilterIntegerVid";
8
6
  import { Item, Query, Sample } from "@molgenis/vip-report-api/src/Api";
9
7
  import { FilterClinVar } from "./FilterClinVar";
10
8
  import { isAnyCsqInfo } from "../../utils/csqUtils";
@@ -30,12 +28,6 @@ export const Filter: Component<FilterProps> = (props) => {
30
28
  <Match when={props.field.id === "DP"}>
31
29
  <FilterIntegerDp {...props} />
32
30
  </Match>
33
- <Match when={props.field.id === "VID"}>
34
- <FilterIntegerVid {...props} />
35
- </Match>
36
- <Match when={props.field.id === "VIM"}>
37
- <FilterIntegerVim {...props} />
38
- </Match>
39
31
  <Match when={props.field.id === "VIAB"}>
40
32
  <FilterAllelicBalance {...props} />
41
33
  </Match>
@@ -0,0 +1,132 @@
1
+ import { Component } from "solid-js";
2
+ import { Checkbox, CheckboxEvent } from "../Checkbox";
3
+ import { selector, selectorKey } from "../../utils/query";
4
+ import { Item, Query, QueryClause, Sample, Selector } from "@molgenis/vip-report-api/src/Api";
5
+ import { FieldMetadata } from "@molgenis/vip-report-vcf/src/MetadataParser";
6
+ import { FilterChangeEvent, FilterClearEvent } from "./Filters";
7
+
8
+ export type FilterInheritanceProps = {
9
+ vimField: FieldMetadata;
10
+ vidField: FieldMetadata;
11
+ query?: Query;
12
+ onChange: (event: FilterChangeEvent) => void;
13
+ onClear: (event: FilterClearEvent) => void;
14
+ sample: Item<Sample>;
15
+ key: string;
16
+ };
17
+ export const FilterInheritance: Component<FilterInheritanceProps> = (props) => {
18
+ const VIM_TRUE = "VIM_true";
19
+ const VIM_MISSING = "VIM_missing";
20
+ const VID = "VID";
21
+
22
+ let isVimMissingChecked = false;
23
+ let isVimTrueChecked = false;
24
+ let isVidChecked = false;
25
+
26
+ const vimFieldSelector: Selector = ["s", props.sample.data.index, ...selector(props.vimField)];
27
+ const vidFieldSelector: Selector = ["s", props.sample.data.index, ...selector(props.vidField)];
28
+
29
+ if (props.query !== undefined) {
30
+ (props.query?.args as QueryClause[]).forEach((query) => {
31
+ const selectorKeyValue = selectorKey(query.selector);
32
+ if (selectorKeyValue === selectorKey(vimFieldSelector) && query.args === 1) {
33
+ isVimTrueChecked = true;
34
+ } else if (
35
+ selectorKeyValue === selectorKey(vimFieldSelector) &&
36
+ (query.args === null || query.args === undefined)
37
+ ) {
38
+ isVimMissingChecked = true;
39
+ } else if (selectorKeyValue === selectorKey(vidFieldSelector) && query.args === 1) {
40
+ isVidChecked = true;
41
+ }
42
+ });
43
+ }
44
+ const onFilterChange = (event: CheckboxEvent) => {
45
+ const queries: QueryClause[] = [];
46
+ if ((event.value === VIM_TRUE && event.checked) || (isVimTrueChecked && event.value !== VIM_TRUE)) {
47
+ queries.push({
48
+ selector: vimFieldSelector,
49
+ operator: "==",
50
+ args: 1,
51
+ });
52
+ isVimTrueChecked = true;
53
+ } else if (isVimTrueChecked && event.value === VIM_TRUE && !event.checked) {
54
+ isVimTrueChecked = false;
55
+ }
56
+
57
+ 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 (can include de novo variants)."
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 (can include de novo variants)."
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
- <p class="has-text-weight-semibold">{props.sample.data.person.individualId}</p>
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={props.fields}>
52
+ <For each={qualityFields}>
25
53
  {(field) => (
26
54
  <>
27
55
  {" "}
@@ -32,14 +32,14 @@ export const ClinVar: Component<FieldProps> = (props) => {
32
32
  };
33
33
 
34
34
  const href = () => {
35
- const clinVarIdsField = getCsqInfoIndex(props.infoMeta, "clinVar");
36
- const clinVarIds = clinVarIdsField ? (getCsqInfo(props.info, clinVarIdsField) as number[]) : [];
35
+ const clinVarIdsField = getCsqInfoIndex(props.infoMeta, "clinVar_CLNID");
36
+ const clinVarIds = clinVarIdsField !== -1 ? (getCsqInfo(props.info, clinVarIdsField) as number[]) : [];
37
37
  return clinVarIds.length === 1 ? `https://www.ncbi.nlm.nih.gov/clinvar/variation/${clinVarIds[0]}/` : undefined;
38
38
  };
39
39
 
40
40
  const description = () => {
41
41
  const statusField = getCsqInfoIndex(props.infoMeta, "clinVar_CLNREVSTAT");
42
- const status = statusField ? (getCsqInfo(props.info, statusField) as string[]) : [];
42
+ const status = statusField !== -1 ? (getCsqInfo(props.info, statusField) as string[]) : [];
43
43
  if (status.length === 0) return;
44
44
 
45
45
  let description;
package/src/index.tsx CHANGED
@@ -29,7 +29,7 @@ library.add(
29
29
  faDownload,
30
30
  faExternalLink,
31
31
  faHome,
32
- faSearch
32
+ faSearch,
33
33
  );
34
34
 
35
35
  function processIcons() {
@@ -49,5 +49,5 @@ render(
49
49
  <App />
50
50
  </Provider>
51
51
  ),
52
- document.body
52
+ document.body,
53
53
  );
@@ -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:1:64802:0: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:.:.:.:.:.:.
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&regulatory_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&regulatory_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&regulatory_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&regulatory_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&regulatory_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&regulatory_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&regulatory_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&regulatory_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&regulatory_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:1:64802:0: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:.:.:.:.:.:.
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&regulatory_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|1:0,50:50:50:AR:1:27068:1: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 1|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:.:.:.:.:.:.
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:.:.:.:.:.:.
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:.:.:.:.:.:.
@@ -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;
@@ -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 { createSampleQuery, infoSelector, infoSortPath, sampleSelector, selector, selectorKey } from "../utils/query";
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
- selectorKey(selectorVim)
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
  }
@@ -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
- };