Q96G46
PR
Gene name |
DUS3L |
Protein name |
tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like |
Names |
mRNA-dihydrouridine synthase DUS3L, tRNA-dihydrouridine synthase 3-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56931 |
EC number |
1.3.1.89: With NAD(+) or NADP(+) as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96G46
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96G46-F1 | Predicted | AlphaFoldDB |
641 variants for Q96G46
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA403574432 rs1320774945 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1239133922 CA403574417 |
4 | G>V | No |
ClinGen TOPMed |
|
|
rs763852837 CA9117620 |
5 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403574410 rs1473852395 |
6 | A>T | No |
ClinGen TOPMed |
|
|
rs752352018 CA9117618 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774409412 CA304700400 |
8 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA9117616 rs759335801 |
8 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9117615 rs774409412 |
8 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA403574394 rs1449973651 |
9 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776542494 CA9117612 |
10 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359147478 CA403574383 |
11 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228180370 CA403574359 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs933506608 CA304700379 |
15 | G>A | No |
ClinGen gnomAD |
|
|
CA403574356 rs1297907186 |
15 | G>S | No |
ClinGen gnomAD |
|
|
CA403574347 rs1449314168 |
16 | G>D | No |
ClinGen TOPMed |
|
|
CA304700375 rs986008353 |
16 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746204858 CA9117608 |
17 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780183843 CA9117609 |
17 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs747252394 CA9117610 |
17 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747252394 CA304700370 |
17 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9117606 rs779524301 |
18 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403574334 rs757677248 |
19 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757677248 CA9117605 |
19 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403574332 rs1188514587 |
20 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1477131496 CA403574327 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs777172773 CA9117603 |
21 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777172773 CA403574322 |
21 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490852688 CA403574320 |
22 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304700329 rs1030140427 |
22 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403574308 rs1599624978 |
24 | E>Q | No |
ClinGen Ensembl |
|
|
CA9117602 rs755631398 |
25 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9117601 rs574477099 |
26 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1241615862 CA403574292 |
27 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9117600 rs202028556 |
28 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9117599 rs199500740 |
28 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369940485 CA403574262 |
31 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436618595 CA403574260 |
32 | R>G | No |
ClinGen gnomAD |
|
|
CA9117564 COSM1002199 rs780880047 |
34 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1276339831 CA403573932 |
35 | L>V | No |
ClinGen TOPMed |
|
|
rs1345638051 CA403573868 |
43 | Q>H | No |
ClinGen TOPMed |
|
|
rs1599623896 CA403573845 |
47 | A>T | No |
ClinGen Ensembl |
|
|
rs1291922791 CA403573831 |
49 | G>R | No |
ClinGen gnomAD |
|
|
CA9117561 rs779753812 |
50 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9117560 rs758186249 |
50 | Q>R | No |
ClinGen ExAC |
|
|
rs1351021045 CA403573819 |
51 | E>Q | No |
ClinGen gnomAD |
|
|
CA403573807 rs1210867639 |
52 | K>N | No |
ClinGen TOPMed |
|
|
rs150467937 CA9117558 |
52 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287360135 CA403573803 |
53 | T>S | No |
ClinGen gnomAD |
|
|
CA403573797 rs1262690503 |
54 | C>G | No |
ClinGen TOPMed |
|
|
rs145101341 CA9117557 |
54 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403573792 rs757220461 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs139575458 CA9117555 |
55 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9117556 COSM1243216 rs757220461 |
55 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA304699413 rs946360681 |
57 | T>A | No |
ClinGen Ensembl |
|
|
CA403573770 rs1164166905 |
58 | E>D | No |
ClinGen gnomAD |
|
|
CA403573775 rs1189018419 |
58 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403573771 rs1487854975 |
58 | E>V | No |
ClinGen gnomAD |
|
|
CA9117554 rs767600580 |
59 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759597751 CA9117553 |
61 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs146880736 CA9117552 |
62 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9117551 rs766608246 |
64 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117550 rs763271275 |
64 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117549 rs773678024 |
65 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1052122154 CA304699405 |
65 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 66 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403573729 rs1158840540 |
66 | E>K | No |
ClinGen TOPMed |
|
|
CA403573688 rs1325318541 |
72 | A>T | No |
ClinGen TOPMed |
|
|
CA403573683 rs1331426072 |
72 | A>V | No |
ClinGen TOPMed |
|
|
CA9117546 rs777220313 |
73 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA9117545 rs140036183 |
74 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542377165 CA9117544 |
75 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9117543 rs779622871 |
76 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs771726203 CA9117542 |
76 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778705657 CA9117540 |
77 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117541 rs146556140 |
77 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261316682 CA403573647 |
79 | D>G | No |
ClinGen TOPMed |
|
|
rs1429325601 CA403573651 |
79 | D>N | No |
ClinGen gnomAD |
|
|
rs756991246 CA9117539 |
82 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs756991246 CA403573626 |
82 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA403573619 rs1208235354 |
83 | A>V | No |
ClinGen TOPMed |
|
|
rs753783217 CA304699344 |
84 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777765499 CA9117537 |
85 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196203225 CA403573551 |
87 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1481482721 CA403573488 |
90 | A>S | No |
ClinGen gnomAD |
|
|
CA403573450 rs1182170934 |
92 | E>D | No |
ClinGen TOPMed |
|
|
rs1184417301 CA403573433 |
93 | P>L | No |
ClinGen gnomAD |
|
|
rs1250226760 CA403573440 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs1232758228 CA403573416 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs1285209820 CA403573408 |
95 | E>K | No |
ClinGen gnomAD |
|
|
rs749973114 CA304699331 |
96 | Q>L | No |
ClinGen Ensembl |
|
|
CA403573346 rs766546707 |
98 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA403573357 rs751632018 |
98 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9117535 rs751632018 |
98 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217650366 CA403573344 |
99 | T>S | No |
ClinGen Ensembl |
|
|
rs763296563 COSM1680543 CA9117533 |
100 | Q>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750622459 CA9117532 |
101 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468901553 CA403573272 |
103 | A>G | No |
ClinGen gnomAD |
|
|
rs1164617586 CA403573279 |
103 | A>T | No |
ClinGen TOPMed |
|
|
rs1366005652 CA403573260 |
104 | R>P | No |
ClinGen TOPMed |
|
|
CA304699293 rs964314229 |
104 | R>W | No |
ClinGen gnomAD |
|
|
rs765708825 CA9117531 |
106 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117530 rs762200704 |
107 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9117529 rs777336707 |
108 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403573195 rs1352259873 |
108 | K>R | No |
ClinGen TOPMed |
|
|
rs201303761 CA9117528 |
109 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304699275 rs142782804 |
110 | R>Q | No |
ClinGen ESP |
|
|
rs775097771 CA9117526 |
111 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9117525 rs771437379 |
112 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9117523 rs778474833 |
113 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403573098 rs11558180 |
115 | P>A | No |
ClinGen Ensembl |
|
|
CA9117522 rs770782788 |
115 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304699252 rs11558180 |
115 | P>S | No |
ClinGen Ensembl |
|
|
CA403573085 rs1241748158 |
116 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749065839 CA403573077 |
116 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs749065839 CA9117521 |
116 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9117519 rs371483245 |
117 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9117515 rs750677692 |
119 | D>G | No |
ClinGen ExAC |
|
|
CA403573039 rs758492683 |
119 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117516 rs758492683 |
119 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455231978 CA403572954 |
124 | C>S | No |
ClinGen gnomAD |
|
|
rs765550825 CA9117514 |
125 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196840511 COSM232223 CA403572942 |
125 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA403572946 rs765550825 |
125 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403572936 rs1254935170 |
126 | S>F | No |
ClinGen TOPMed |
|
|
rs754198984 CA304699187 |
128 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA403572923 rs1245252743 |
129 | Q>E | No |
ClinGen gnomAD |
|
|
CA304698905 rs972054724 |
131 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA304698901 rs972054724 |
131 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403572872 rs1328798868 |
133 | A>T | No |
ClinGen gnomAD |
|
|
CA403572863 rs1302506569 |
134 | K>E | No |
ClinGen gnomAD |
|
|
rs1373407473 CA403572852 |
135 | C>F | No |
ClinGen TOPMed |
|
|
rs961077161 CA304698893 |
135 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403572855 rs961077161 |
135 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403572835 rs201531051 |
137 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756369854 CA9117493 |
137 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9117491 rs768001990 |
138 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759092111 CA9117489 |
139 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs753082378 CA304698881 |
139 | D>H | No |
ClinGen Ensembl |
|
|
rs1428608159 CA403572820 |
140 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1428608159 CA403572819 |
140 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403572807 rs1491000590 |
142 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1250244851 CA403572780 |
146 | D>Y | No |
ClinGen gnomAD |
|
|
rs765833088 CA9117487 |
148 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9117486 rs762685545 |
149 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273296613 CA403572760 |
149 | R>P | No |
ClinGen gnomAD |
|
|
CA403572757 rs1215920556 |
150 | Y>H | No |
ClinGen gnomAD |
|
|
rs772681030 CA403572738 |
152 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403572741 rs1470550088 |
152 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 152 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342267073 CA403572744 |
152 | E>Q | No |
ClinGen gnomAD |
|
|
rs769633965 CA403572719 |
155 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs769633965 CA9117484 |
155 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286345283 CA403572709 |
157 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441240933 CA403572703 |
158 | L>V | No |
ClinGen gnomAD |
|
|
CA403572696 rs747890515 |
159 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164641504 CA403572697 |
159 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747890515 CA9117483 |
159 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776687007 CA9117482 |
161 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768684516 CA9117481 |
161 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1481443185 CA403572684 |
162 | C>S | No |
ClinGen gnomAD |
|
|
rs757355388 CA9117478 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs944857124 CA304698843 |
164 | L>F | No |
ClinGen TOPMed |
|
|
CA9117476 rs777856795 |
167 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203797996 CA403572632 |
169 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA304698822 rs550931130 |
170 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9117472 rs185026554 |
170 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403572630 rs185026554 |
170 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9117473 rs550931130 |
170 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9117471 rs752011259 |
171 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1281133727 CA403572617 |
172 | P>L | No |
ClinGen gnomAD |
|
|
CA403572620 rs1198194280 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA9117470 rs765884809 |
174 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9117469 rs762302119 |
175 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403572596 rs1386489013 |
176 | T>N | No |
ClinGen gnomAD |
|
|
rs764784087 CA9117467 |
176 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs768523338 CA9117464 |
180 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760702481 CA9117463 |
182 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403572556 rs1568388554 |
182 | A>V | No |
ClinGen Ensembl |
|
|
rs2436487 VAR_027092 CA9117462 |
185 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403572537 rs1389993989 |
185 | R>S | No |
ClinGen TOPMed |
|
|
CA9117460 rs749319571 |
187 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403572519 rs1317521041 |
188 | G>E | No |
ClinGen gnomAD |
|
|
CA403572468 rs1316029526 |
195 | E>D | No |
ClinGen gnomAD |
|
|
CA403572474 rs1358405097 |
195 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9117459 rs778109870 |
197 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1288425352 CA403572415 |
199 | R>C | No |
ClinGen gnomAD |
|
|
rs748357871 CA9117457 |
199 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9117455 rs755275019 |
200 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA403572379 rs1386183492 |
201 | T>I | No |
ClinGen gnomAD |
|
|
rs992684829 CA304698767 |
202 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA304698736 rs372978143 |
202 | Q>H | No |
ClinGen Ensembl |
|
|
CA9117453 rs752063460 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250037940 CA403572358 |
203 | P>S | No |
ClinGen gnomAD |
|
|
rs780533959 CA9117452 |
204 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304698726 rs1015407861 COSM1189789 |
204 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9117450 rs749879529 |
206 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs749879529 CA9117451 |
206 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs942541725 CA304698711 |
207 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs34998818 CA304698710 |
207 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34998818 CA9117449 COSM1526719 |
207 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403572291 rs1247875772 |
208 | N>S | No |
ClinGen gnomAD |
|
|
rs1295086525 CA403572279 |
209 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1325723441 CA403572272 |
209 | G>V | No |
ClinGen TOPMed |
|
|
CA403572243 rs1204626036 |
211 | D>E | No |
ClinGen TOPMed |
|
|
rs1305411172 CA403572177 |
215 | Q>H | No |
ClinGen gnomAD |
|
|
rs763988246 CA9117446 |
215 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760544411 CA403572183 |
215 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9117445 rs760544411 |
215 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1428189738 CA403572157 |
216 | Q>L | No |
ClinGen gnomAD |
|
|
CA403572117 rs1371038070 |
217 | Q>R | No |
ClinGen gnomAD |
|
|
CA403572102 rs1195788834 |
218 | L>P | No |
ClinGen TOPMed |
|
|
CA403572083 rs1352420091 |
219 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775630350 CA9117444 |
219 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117442 rs375601676 |
221 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs1428629776 CA403572039 |
221 | R>L | No |
ClinGen gnomAD |
|
|
rs763137251 CA9117440 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773191777 CA9117439 |
223 | V>I | No |
ClinGen ExAC |
|
|
CA403571992 rs1386001122 |
224 | R>C | No |
ClinGen TOPMed |
|
|
CA304698664 rs900774876 |
224 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9117438 rs748379146 |
225 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571934 rs1250989158 |
226 | E>D | No |
ClinGen gnomAD |
|
|
CA403571954 rs781322586 |
226 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9117436 rs781322586 |
226 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403571904 rs769073529 |
228 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769073529 CA9117435 |
228 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039277401 CA304698632 |
230 | Q>E | No |
ClinGen TOPMed |
|
|
CA9117433 rs767870547 |
233 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304698612 rs767870547 |
233 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117432 rs758799429 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403571857 rs767870547 |
233 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571846 rs1390053476 |
234 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403571849 rs1390053476 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA304698596 rs918470089 |
234 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1348850227 CA403571824 |
236 | S>T | No |
ClinGen TOPMed |
|
|
rs373448979 CA9117430 |
241 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403571763 rs1462124948 |
241 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756721749 CA9117429 |
242 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403571746 rs1429964449 |
243 | A>T | No |
ClinGen gnomAD |
|
|
CA9117428 rs753614615 |
243 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9117427 rs200050979 |
244 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200050979 CA403571736 |
244 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403571720 rs1481780360 |
245 | V>I | No |
ClinGen gnomAD |
|
|
rs1481780360 CA403571722 |
245 | V>L | No |
ClinGen gnomAD |
|
|
CA403571696 rs980860709 |
246 | P>H | No |
ClinGen gnomAD |
|
|
rs980860709 CA304698571 |
246 | P>L | No |
ClinGen gnomAD |
|
|
CA403571685 rs1324317583 |
247 | E>K | No |
ClinGen gnomAD |
|
|
rs1361502819 CA403571673 |
248 | G>R | No |
ClinGen TOPMed |
|
|
rs948373189 CA304698569 |
249 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403571623 rs1467844481 |
252 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403571601 rs1335556688 |
253 | G>S | No |
ClinGen gnomAD |
|
|
CA9117423 rs759410475 |
254 | A>T | No |
ClinGen ExAC |
|
|
rs577842991 CA9117422 |
255 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304698541 rs992756864 |
256 | R>G | No |
ClinGen TOPMed |
|
|
rs776896103 CA9117419 |
256 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117418 rs768844263 |
257 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9117417 rs747413829 |
257 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451619446 CA403571439 |
261 | G>C | No |
ClinGen gnomAD |
|
|
rs1363153906 CA403571408 |
262 | A>V | No |
ClinGen gnomAD |
|
|
rs144731277 CA9117415 |
263 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9117414 rs375902604 |
263 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375902604 CA304698495 |
263 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9117413 rs779471472 |
264 | Q>* | No |
ClinGen ExAC |
|
|
rs1203451271 CA403571318 |
267 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1002195 rs1350666577 CA403571277 |
269 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA304698469 rs749879527 |
269 | P>T | No |
ClinGen TOPMed |
|
|
rs1442327627 CA403571256 |
271 | T>A | No |
ClinGen TOPMed |
|
|
CA9117409 rs755865365 |
272 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 273 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357679200 CA403571231 |
273 | T>P | No |
ClinGen gnomAD |
|
|
rs767226190 CA9117407 |
274 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754733529 CA9117406 |
276 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571172 rs1335698515 |
277 | S>N | No |
ClinGen gnomAD |
|
|
CA9117404 rs751515588 |
278 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403571162 rs751515588 |
278 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs34473865 CA9117402 |
279 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403571143 rs776660701 |
280 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA403571141 rs1163196249 |
280 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776660701 CA9117401 |
280 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs567741133 CA9117399 |
281 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 282 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772385782 CA9117397 |
283 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571116 rs1360577546 |
284 | P>L | No |
ClinGen TOPMed |
|
|
CA403571114 rs1207366777 |
285 | L>V | No |
ClinGen gnomAD |
|
|
CA403571105 rs1238386611 |
286 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA304698408 rs1006635155 |
288 | E>G | No |
ClinGen TOPMed |
|
|
rs749776244 CA9117394 |
289 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749776244 CA9117393 |
289 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9117392 rs777443195 |
291 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571072 rs1224644250 |
292 | R>G | No |
ClinGen gnomAD |
|
|
CA9117391 rs755623568 |
292 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403571044 rs1363620146 |
294 | R>Q | No |
ClinGen gnomAD |
|
|
rs111761226 CA304698387 |
294 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs557560176 CA9117389 |
295 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA403571013 rs1416287170 |
296 | C>W | No |
ClinGen gnomAD |
|
|
rs1425023315 CA403571020 |
296 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571572241 CA9117387 |
300 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1002193 CA9117388 rs200849181 |
300 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA403569781 rs1268352702 |
301 | L>M | No |
ClinGen TOPMed |
|
|
rs770404189 CA9117354 |
302 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304694254 rs977856746 |
303 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9117353 rs761271828 |
304 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947392873 CA304694244 |
304 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs952391346 CA304694231 |
310 | A>S | No |
ClinGen TOPMed |
|
|
rs952391346 CA403569671 |
310 | A>T | No |
ClinGen TOPMed |
|
|
rs919590224 CA304694224 |
310 | A>V | No |
ClinGen Ensembl |
|
|
CA9117349 rs746677960 |
311 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1282039483 | 312 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745638565 | 314 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147435669 CA304694196 |
314 | T>M | No |
ClinGen ESP gnomAD |
|
|
CA9117301 rs775009437 |
315 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs766962868 CA9117300 |
315 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759196358 CA9117299 |
316 | G>R | No |
ClinGen ExAC |
|
|
COSM568369 rs770830758 CA9117297 |
321 | R>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA304693710 rs955321867 |
321 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1347313840 CA403569442 |
322 | R>L | No |
ClinGen TOPMed |
|
|
rs545783379 COSM3783298 CA9117296 |
322 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9117295 rs138911071 |
323 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902500715 CA304693692 |
324 | C>G | No |
ClinGen Ensembl |
|
|
CA9117294 rs769590113 |
325 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA304693681 rs748061036 |
326 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748061036 CA9117293 |
326 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117292 rs150098485 |
326 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746093606 CA9117290 CA403569361 |
328 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547585549 CA9117289 |
329 | A>V | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754119586 CA9117287 |
331 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1568387241 CA403569283 |
333 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 335 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403569249 rs1267713864 |
336 | M>L | No |
ClinGen gnomAD |
|
|
CA9117282 rs767014289 |
336 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9117280 rs751287901 |
338 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403569146 rs1364824808 |
340 | T>I | No |
ClinGen TOPMed |
|
|
rs1320044284 CA403569132 |
341 | N>S | No |
ClinGen gnomAD |
|
|
rs1404415212 CA403569110 |
342 | L>Q | No |
ClinGen TOPMed |
|
|
CA9117275 rs200704099 |
344 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1279380295 CA403569048 |
345 | G>D | No |
ClinGen TOPMed |
|
|
CA403569063 rs1437431761 |
345 | G>S | No |
ClinGen TOPMed |
|
|
CA403569026 rs1390003742 |
346 | Q>R | No |
ClinGen gnomAD |
|
|
rs200834506 CA9117274 |
347 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141881706 CA403568976 |
349 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9117272 rs141881706 |
349 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141881706 CA304693571 |
349 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1037669915 CA304693568 |
351 | A>S | No |
ClinGen gnomAD |
|
|
rs376136230 CA9117270 |
353 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9117269 rs749475502 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778010317 CA9117268 |
355 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403568898 rs1417059623 |
355 | R>H | No |
ClinGen gnomAD |
|
|
CA403568892 rs1179422074 |
356 | H>Y | No |
ClinGen gnomAD |
|
|
CA9117267 rs756401002 |
357 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9117265 rs781659247 |
358 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346378448 CA403568858 |
358 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1236196450 CA403568841 |
359 | E>D | No |
ClinGen TOPMed |
|
|
CA9117264 rs754535899 |
359 | E>K | No |
ClinGen ExAC |
|
|
rs372607593 CA9117263 |
360 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 362 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143475735 CA9117261 |
364 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403568773 rs1378633494 |
365 | Q>* | No |
ClinGen gnomAD |
|
|
rs369831822 CA9117229 |
369 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403568168 rs1343332429 |
371 | P>S | No |
ClinGen gnomAD |
|
|
rs756990384 CA9117224 |
372 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9117225 rs778525638 |
372 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403568141 rs753481870 |
373 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9117223 rs753481870 |
373 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA403568136 rs1599620079 |
373 | T>S | No |
ClinGen Ensembl |
|
|
CA304693156 rs894140172 |
374 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755929736 CA9117221 |
377 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA403568069 rs1599620066 |
378 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9117220 rs369668022 |
379 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 380 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9117219 rs767464574 |
380 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117216 rs750535542 |
381 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs924350406 CA304693120 |
383 | R>C | No |
ClinGen gnomAD |
|
|
rs1451865334 CA403568018 COSM1194752 |
383 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1451865334 CA403568021 |
383 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9117214 rs373231566 |
385 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9117213 rs776769215 |
386 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768968397 CA304693097 |
392 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117211 rs768968397 |
392 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304693093 rs145511580 |
393 | N>S | No |
ClinGen 1000Genomes |
|
|
rs775901684 CA9117209 |
394 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148984495 CA9117208 |
395 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328653311 CA403567854 |
397 | P>A | No |
ClinGen gnomAD |
|
|
rs200384889 CA9117205 |
399 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479183501 CA403567807 |
401 | V>M | No |
ClinGen gnomAD |
|
|
rs372947008 CA9117201 |
403 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9117200 rs549732623 |
403 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1238315595 CA403567758 |
404 | K>N | No |
ClinGen gnomAD |
|
|
rs982880954 CA403567690 |
406 | G>R | No |
ClinGen gnomAD |
|
|
rs982880954 CA304692805 |
406 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756142988 CA9117159 |
409 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs972014190 CA304692788 |
411 | M>V | No |
ClinGen Ensembl |
|
|
rs1219571217 CA403567592 |
413 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138936621 CA9117158 |
413 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA403567570 rs1599619584 |
415 | T>P | No |
ClinGen Ensembl |
|
|
CA304692783 rs991584313 |
416 | K>T | No |
ClinGen Ensembl |
|
|
rs958960403 CA304692772 |
417 | F>L | No |
ClinGen TOPMed |
|
|
CA403567478 rs1450729331 |
419 | Q>H | No |
ClinGen TOPMed |
|
|
rs370604860 CA9117157 |
419 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403567471 rs1339161999 |
420 | I>V | No |
ClinGen gnomAD |
|
|
CA9117154 rs766803219 |
421 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9117155 rs373669780 |
421 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9117153 COSM179267 rs763571268 |
422 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA403567440 rs763571268 |
422 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456120695 CA403567436 |
422 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403567382 rs1468534367 |
424 | M>I | No |
ClinGen gnomAD |
|
|
CA9117152 rs773529309 |
424 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1348907909 CA403567402 |
424 | M>V | No |
ClinGen gnomAD |
|
|
CA403566887 rs1599618943 |
429 | D>E | No |
ClinGen Ensembl |
|
|
rs149595304 CA304692327 |
429 | D>H | No |
ClinGen 1000Genomes |
|
|
rs1446860225 CA403566878 |
430 | V>M | No |
ClinGen gnomAD |
|
|
rs1215443004 CA403566846 |
431 | P>L | No |
ClinGen gnomAD |
|
|
CA9117053 rs762805570 |
434 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9117050 rs773281714 |
436 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9117049 rs111529816 |
437 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747063877 CA304692310 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747063877 CA9117048 |
437 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304692305 rs1005494101 |
438 | T>R | No |
ClinGen TOPMed |
|
|
rs780464929 CA9117047 |
439 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746055828 CA9117045 |
440 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117042 rs376836451 |
442 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9117041 rs373435940 |
443 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755658465 CA9117040 |
443 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755658465 CA403566610 |
443 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355537721 CA403566596 |
445 | N>K | No |
ClinGen TOPMed |
|
|
CA9117037 rs754597709 |
447 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403566564 rs1599618783 |
448 | H>P | No |
ClinGen Ensembl |
|
|
rs766157430 CA9117035 |
449 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9117034 rs762832615 |
449 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9117033 rs200981144 |
453 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374786730 CA304692218 |
455 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1488146596 CA403566436 |
455 | R>W | No |
ClinGen gnomAD |
|
|
CA403566373 rs1481142892 |
457 | W>* | No |
ClinGen gnomAD |
|
|
CA9117030 rs775456187 |
458 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403566345 rs1243395439 |
459 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1341016869 CA403566308 |
460 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9117028 rs746141629 |
461 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA403566290 rs1298566694 |
462 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403566279 rs771247478 |
463 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403566272 rs749617996 |
463 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs771247478 CA9117026 |
463 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9117025 rs749617996 |
463 | T>R | No |
ClinGen ExAC |
|
|
rs192808016 CA304691970 |
465 | H>P | No |
ClinGen 1000Genomes |
|
|
rs762219438 CA9116984 |
465 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9116982 rs527698661 |
467 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304691961 rs913443761 |
467 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373587986 CA304691954 |
468 | S>A | No |
ClinGen ESP TOPMed |
|
|
CA403565772 rs779724928 |
469 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304691949 rs941891323 |
469 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs941891323 CA403565771 |
469 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9116980 rs779724928 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408158935 CA403565759 |
471 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1408158935 CA403565760 |
471 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9116979 rs771642917 |
472 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs187597254 CA9116978 |
472 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1046049 CA304691942 |
473 | Y>C | No |
ClinGen Ensembl |
|
|
rs778684839 CA9116977 |
473 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs757157405 CA9116976 |
474 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403565740 rs757157405 |
474 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403565728 rs753697925 |
476 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216235049 CA403565713 |
477 | A>T | No |
ClinGen gnomAD |
|
|
CA403565693 rs1568385799 |
478 | D>E | No |
ClinGen Ensembl |
|
|
rs199854498 CA9116971 |
478 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA9116973 rs199854498 |
478 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs140421155 CA304691935 |
479 | W>R | No |
ClinGen ESP |
|
|
rs1278734343 CA403565682 |
479 | W>S | No |
ClinGen TOPMed |
|
| TCGA novel | 480 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568385782 CA403565646 |
481 | Y>C | No |
ClinGen Ensembl |
|
|
CA9116969 rs766509457 |
482 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417012210 CA403565627 |
483 | E>A | No |
ClinGen gnomAD |
|
|
CA9116967 rs151277031 |
483 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403565594 rs1599618082 |
485 | C>G | No |
ClinGen Ensembl |
|
|
rs201763995 CA9116966 |
485 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403565579 rs777075956 |
486 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116964 rs777075956 |
486 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296230390 CA403565561 |
487 | Q>H | No |
ClinGen gnomAD |
|
|
rs995925013 CA304691925 |
489 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM4132670 CA403565541 rs1599618052 |
489 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9116961 rs776125315 |
492 | M>I | No |
ClinGen ExAC |
|
|
CA403565499 rs761251077 CA9116962 |
492 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116960 rs142310612 |
493 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9116959 rs140791550 |
493 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs886376950 | 495 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199689479 CA9116958 |
496 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443775794 CA403565337 |
499 | D>N | No |
ClinGen TOPMed |
|
|
rs764189871 CA9116929 |
500 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1279599989 CA403565305 |
503 | F>C | No |
ClinGen TOPMed |
|
|
CA403565302 rs1355262466 |
504 | E>K | No |
ClinGen TOPMed |
|
|
rs879775130 CA304691786 |
505 | D>H | No |
ClinGen gnomAD |
|
|
rs879775130 CA403565294 |
505 | D>N | No |
ClinGen gnomAD |
|
|
rs867637855 CA304691784 |
506 | A>V | No |
ClinGen Ensembl |
|
|
rs200024803 CA9116927 |
507 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116928 rs540799273 |
507 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116926 rs371714095 |
508 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147413719 CA9116925 |
508 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9116923 rs140658529 |
509 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393867063 CA403565257 |
510 | M>I | No |
ClinGen gnomAD |
|
|
CA304691772 rs187270701 |
511 | Q>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs187270701 CA403565249 |
511 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 511 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195604251 CA403565205 |
515 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769366681 CA9116920 |
516 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761409647 CA9116919 |
516 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769366681 CA403565187 |
516 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403565165 rs1453735411 |
518 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9116918 rs144091319 |
521 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9116917 rs144091319 |
521 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9116916 rs747017214 |
521 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781540486 CA403564569 |
523 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781540486 CA9116890 |
523 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1443669594 CA403564565 |
523 | A>V | No |
ClinGen TOPMed |
|
|
rs946555550 CA304691314 |
525 | L>F | No |
ClinGen TOPMed |
|
|
CA9116889 rs755435601 |
527 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403564533 rs1486523259 |
528 | W>C | No |
ClinGen gnomAD |
|
|
CA9116886 rs201456382 |
531 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs923271549 CA304691294 |
534 | K>R | No |
ClinGen Ensembl |
|
|
rs1294953345 CA403564484 |
535 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1326104009 CA403564473 |
537 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403564474 rs1216515353 |
537 | R>W | No |
ClinGen gnomAD |
|
|
CA9116883 rs556988645 |
541 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9116882 rs544571310 |
542 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9116880 rs760323016 |
543 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403564418 rs1372150206 |
545 | E>D | No |
ClinGen gnomAD |
|
|
CA9116876 rs371175612 |
545 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1049218368 COSM3693116 CA304691253 |
546 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9116875 rs759457626 |
546 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1412535871 CA403564403 |
548 | D>G | No |
ClinGen TOPMed |
|
|
rs770041321 CA9116873 |
549 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116870 rs769023788 |
551 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs896710091 CA403564378 |
552 | D>H | No |
ClinGen gnomAD |
|
|
CA304691238 rs896710091 |
552 | D>Y | No |
ClinGen gnomAD |
|
|
CA403564322 rs1490490072 |
555 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 555 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370209351 CA9116869 |
555 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758790438 CA9116867 |
557 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 558 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 559 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397366031 CA403564233 |
560 | H>R | No |
ClinGen gnomAD |
|
|
rs746423393 CA9116866 |
563 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756803226 CA9116864 |
565 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141670860 CA9116861 |
568 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9116860 rs752389825 |
572 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752389825 CA403564100 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403564104 rs1192499776 |
572 | R>W | No |
ClinGen gnomAD |
|
|
rs201040106 CA304691220 |
573 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201040106 CA403564087 |
573 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs925808504 CA304691216 |
573 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9116858 rs566932517 |
577 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1197312792 CA403564012 |
577 | E>G | No |
ClinGen gnomAD |
|
|
CA9116857 rs566932517 |
577 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403564017 rs566932517 |
577 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9116856 rs766452533 |
578 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA403563949 rs1345402939 |
580 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA304691210 rs943332803 |
580 | S>P | No |
ClinGen TOPMed |
|
|
rs1412020784 CA403563864 |
583 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747265517 COSM1204711 CA9116852 |
584 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768788999 CA9116853 |
584 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599615880 CA403563731 |
585 | Y>D | No |
ClinGen Ensembl |
|
|
rs759817503 CA9116814 |
586 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403563681 rs1336796262 |
587 | P>S | No |
ClinGen gnomAD |
|
|
CA9116811 rs559204251 |
588 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs943396294 CA304691112 |
589 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 590 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9116809 rs369595939 |
593 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773406821 CA9116810 |
593 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1417649921 CA403563559 |
594 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9116807 rs780760402 |
596 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA403563527 rs780760402 |
596 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA304691100 rs910548300 |
599 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304691098 rs375224330 |
600 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1049492063 CA304691091 |
601 | R>Q | No |
ClinGen Ensembl |
|
|
rs371971773 CA9116806 |
601 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9116805 rs746718058 |
602 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9116802 rs750276856 |
603 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758312337 CA9116803 |
603 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3960607 CA9116800 rs757219484 |
604 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778526477 CA403563332 |
604 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116801 rs778526477 |
604 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403563296 rs1299241458 |
605 | Y>C | No |
ClinGen gnomAD |
|
|
rs868355702 CA304691069 |
607 | G>S | No |
ClinGen Ensembl |
|
|
rs373588150 CA9116798 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116799 rs373588150 |
608 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755027707 CA9116797 |
608 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9116795 VAR_027093 rs12977803 |
609 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403563188 rs1352609243 |
610 | Y>H | No |
ClinGen gnomAD |
|
|
CA304691048 rs970005734 |
612 | E>G | No |
ClinGen TOPMed |
|
|
rs763111241 CA9116794 |
613 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9116793 rs773640452 |
615 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA403562988 rs1209726657 |
618 | Q>H | No |
ClinGen TOPMed |
|
|
CA403562998 rs1483216539 |
618 | Q>P | No |
ClinGen TOPMed |
|
|
CA9116791 rs145132124 |
622 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9116789 rs543781101 |
622 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145132124 CA9116790 |
622 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1479941878 CA403562897 |
623 | W>* | No |
ClinGen gnomAD |
|
|
rs904165880 CA304691034 |
623 | W>R | No |
ClinGen TOPMed |
|
|
rs1021970086 CA304691031 |
625 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780921432 CA9116788 |
625 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403562840 rs956500052 |
626 | I>L | No |
ClinGen gnomAD |
|
|
rs1276289143 COSM714220 CA403562816 |
626 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA304691026 rs956500052 |
626 | I>V | No |
ClinGen gnomAD |
|
|
rs1231453641 CA403562814 |
627 | S>R | No |
ClinGen gnomAD |
|
|
CA403562735 rs1187650393 |
628 | E>K | No |
ClinGen gnomAD |
|
|
CA403562706 rs1485153512 |
629 | M>I | No |
ClinGen gnomAD |
|
|
rs890591488 CA304690968 |
629 | M>L | No |
ClinGen TOPMed |
|
|
CA9116763 rs777492912 |
630 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769735974 CA9116762 |
630 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216493821 CA403562624 |
634 | V>A | No |
ClinGen gnomAD |
|
|
CA403562631 rs1259617889 |
634 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748013222 CA9116761 |
635 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs1232406748 | 637 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 637 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403562580 rs1356375723 |
637 | S>I | No |
ClinGen gnomAD |
|
|
rs183908607 CA9116759 |
639 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289487699 CA403562538 |
639 | A>V | No |
ClinGen gnomAD |
|
|
CA9116756 rs757464660 |
640 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778975901 CA9116757 |
640 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754178877 CA9116755 |
641 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9116753 rs764497665 |
642 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370795072 CA403562441 |
644 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9116751 rs753239315 |
646 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965084731 CA304690938 |
646 | A>V | No |
ClinGen Ensembl |
|
|
rs758933835 CA9116749 |
647 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403562369 rs762607568 |
648 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9116747 rs762607568 |
648 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773871088 CA9116748 |
648 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762607568 CA9116746 |
648 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304690928 rs758915723 |
650 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA304690926 rs938539816 |
651 | K>Q | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q96G46
3 regional properties for Q96G46
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 233 - 254 | IPR001611-1 |
| repeat | Leucine-rich repeat | 255 - 276 | IPR001611-2 |
| domain | LKB1 serine/threonine kinase interacting protein 1, N-terminal | 6 - 93 | IPR031782 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.1.89 | With NAD(+) or NADP(+) as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| flavin adenine dinucleotide binding | Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2. |
| metal ion binding | Binding to a metal ion. |
| mRNA dihydrouridine synthase activity | Catalysis of the reaction: mRNA-uracil + acceptor = mRNA-dihydrouridine + reduced acceptor. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tRNA dihydrouridine synthase activity | Catalysis of the reaction: tRNA-uracil + acceptor = tRNA-dihydrouridine + reduced acceptor. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| tRNA dihydrouridine synthesis | The process whereby a uridine in a transfer RNA is converted to dihydrouridine. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEGTAEAPL | ENGGGGDSGA | GALERGVAPI | KRQYLTTKEQ | FHQFLEAKGQ | EKTCRETEVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DPAGNELAEP | EAKRIRLEDG | QTADGQTEEA | AEPGEQLQTQ | KRARGQNKGR | PHVKPTNYDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NRLCPSLIQE | SAAKCFFGDR | CRFLHDVGRY | LETKPADLGP | RCVLFETFGR | CPYGVTCRFA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAHLRPEGQN | LVQEELAARG | TQPPSIRNGL | DKALQQQLRK | REVRFERAEQ | ALRRFSQGPT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PAAAVPEGTA | AEGAPRQENC | GAQQVPAGPG | TSTPPSSPVR | TCGPLTDEDV | VRLRPCEKKR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LDIRGKLYLA | PLTTCGNLPF | RRICKRFGAD | VTCGEMAVCT | NLLQGQMSEW | ALLKRHQCED |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IFGVQLEGAF | PDTMTKCAEL | LSRTVEVDFV | DINVGCPIDL | VYKKGGGCAL | MNRSTKFQQI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VRGMNQVLDV | PLTVKIRTGV | QERVNLAHRL | LPELRDWGVA | LVTLHGRSRE | QRYTKLADWQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YIEECVQAAS | PMPLFGNGDI | LSFEDANRAM | QTGVTGIMIA | RGALLKPWLF | TEIKEQRHWD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ISSSERLDIL | RDFTNYGLEH | WGSDTQGVEK | TRRFLLEWLS | FLCRYVPVGL | LERLPQRINE |
| 610 | 620 | 630 | 640 | ||
| RPPYYLGRDY | LETLMASQKA | ADWIRISEML | LGPVPPSFAF | LPKHKANAYK |