Q8TEA7
PR
Gene name |
TBCK |
Protein name |
TBC domain-containing protein kinase-like protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93627 |
EC number |
|
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 Q8TEA7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TEA7-F1 | Predicted | AlphaFoldDB |
725 variants for Q8TEA7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000714764 rs1560929669 |
120 | H>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000256086 RCV000755061 RCV000623429 rs575822089 CA358316 RCV000210864 |
126 | R>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Inborn genetic diseases Syndromic Infantile Encephalopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1762393554 RCV001330403 |
152 | G>R | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865844 RCV001336265 rs1560911619 |
178 | P>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs577030895 RCV001260819 |
241 | E>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001782988 RCV000493909 rs1131691329 |
252 | K>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002524066 RCV000505183 CA357824908 rs1476004978 |
261 | R>S | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001267388 rs751710947 |
264 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_030123 CA3035283 RCV001511547 RCV000987460 rs3775091 |
266 | Q>E | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000210878 rs771481304 RCV000518876 |
268 | M>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000210868 rs869320769 |
278 | P>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3035225 RCV000907271 RCV001824905 rs145386125 RCV002540762 |
325 | V>A | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001775126 rs762552974 RCV000494303 CA3035219 |
347 | R>* | Global developmental delay Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA3035183 rs34840340 RCV000431902 RCV002522673 |
377 | D>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546771 rs773606670 CA3035172 RCV001336261 |
388 | L>I | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001001269 CA357823169 rs1579346494 |
441 | R>K | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000431110 RCV000210872 CA358671 rs376699648 RCV000755062 |
455 | K>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Syndromic Infantile Encephalopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002471074 RCV001268187 rs746860249 RCV000210867 |
457 | N>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000755063 RCV000210879 VAR_077816 rs869320711 CA358889 |
511 | R>H | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Syndromic Infantile Encephalopathy IHPRF3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001255209 rs1759036277 |
529 | R>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_077817 | 551 | L>P | IHPRF3 [UniProt] | Yes | UniProt |
|
RCV000760981 CA16042544 RCV000413719 rs1057518332 |
591 | Q>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003166080 rs150221832 CA3034927 RCV000791029 RCV001869245 |
602 | A>T | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000991424 rs1579257340 |
619 | P>missing | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1579198447 RCV000995893 CA357821555 |
626 | W>C | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000995892 CA357821549 rs1579198426 |
627 | F>C | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267033 CA3034836 rs199827883 RCV001880130 COSM1426253 |
667 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001330399 rs1750972768 |
696 | E>D | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1750971659 RCV001267386 |
698 | I>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253781 rs1750958862 |
715 | Q>* | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3034783 RCV001873567 rs370050799 RCV001169994 |
720 | S>F | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001865843 RCV001336263 CA3034741 rs748323368 |
762 | R>W | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357971976 RCV001330400 rs1176913216 |
790 | S>R | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001863221 RCV002546389 rs767308208 CA3034704 RCV001330401 |
807 | R>P | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001330402 RCV001863222 rs775830620 CA3034702 |
810 | I>V | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753601310 CA3035561 |
2 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA103421780 rs371875558 |
3 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3035560 rs371875558 |
3 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368009477 CA3035559 |
4 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357974253 rs1304880114 |
7 | A>T | No |
ClinGen gnomAD |
|
|
COSM3428034 CA3035556 rs758960293 |
9 | M>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773824314 CA3035555 |
11 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3035554 rs765813429 |
12 | F>V | No |
ClinGen ExAC |
|
|
rs1462514092 CA357974208 |
13 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357974187 rs866678116 |
16 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA103421777 COSM447202 rs866678116 |
16 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA357974184 rs1202451246 |
17 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3035552 rs777161111 |
17 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 18 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212748015 CA357974179 |
18 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357974168 rs1193957323 |
20 | P>S | No |
ClinGen gnomAD |
|
|
CA3035548 rs772253266 |
21 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs745914978 CA3035547 |
23 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3035546 rs778951968 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA357974128 rs1255121842 |
26 | S>N | No |
ClinGen gnomAD |
|
|
rs770884853 CA3035545 |
34 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs922267390 CA103421775 |
36 | I>F | No |
ClinGen Ensembl |
|
|
COSM3428033 CA3035544 rs749173215 |
36 | I>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 36 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755840392 CA3035543 |
37 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035541 rs543097738 |
37 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755840392 CA3035542 |
37 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755840392 CA357974058 |
37 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035540 rs780690759 |
38 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3035539 rs754562222 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3035538 COSM1049840 rs750999870 |
41 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3035537 rs371985941 |
41 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357974038 rs750999870 |
41 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA103421774 rs866357637 |
43 | Q>* | No |
ClinGen Ensembl |
|
|
rs781374842 CA3035536 |
43 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170136561 CA357974019 |
44 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754332830 CA3035535 |
46 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs764624117 CA3035534 COSM336750 |
48 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357973988 rs1579591244 |
49 | T>P | No |
ClinGen Ensembl |
|
|
CA103421773 rs976654604 |
50 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3035533 rs113924864 |
51 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357973965 rs1254886948 |
52 | R>S | No |
ClinGen gnomAD |
|
|
rs1419212818 CA357973967 |
52 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1185065412 CA357973961 |
53 | L>F | No |
ClinGen gnomAD |
|
|
CA3035532 rs775831728 |
54 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1216400610 CA357973947 |
55 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs574161082 CA3035530 |
56 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3035529 rs557542428 |
57 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1240410048 CA357973935 |
57 | V>M | No |
ClinGen gnomAD |
|
|
CA103421771 rs149301802 |
58 | D>A | No |
ClinGen ESP |
|
|
rs774755464 CA103420333 |
66 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs35784409 CA103420332 VAR_041380 |
66 | R>L | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs35784409 CA3035505 |
66 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357973328 rs768434280 |
69 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3035502 rs768434280 |
69 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs200673063 CA3035500 |
70 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200673063 CA3035501 |
70 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3035499 rs758032088 |
71 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3035496 rs756603134 |
73 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778527597 CA3035497 |
73 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357973251 rs1300914475 |
75 | E>K | No |
ClinGen gnomAD |
|
|
rs145078307 CA3035494 |
76 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3035493 rs528353733 |
76 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751833677 CA3035492 |
77 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330124358 CA357973225 |
77 | S>R | No |
ClinGen gnomAD |
|
|
rs1465905979 CA357973209 |
78 | L>P | No |
ClinGen gnomAD |
|
|
rs1393671493 CA357973198 |
79 | E>V | No |
ClinGen gnomAD |
|
|
CA357973182 rs1195816822 |
80 | D>V | No |
ClinGen gnomAD |
|
|
rs1040431539 CA103420331 |
81 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766562297 CA3035491 |
82 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs763057505 CA3035490 |
83 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA103420329 rs776333518 |
83 | R>Q | No |
ClinGen gnomAD |
|
|
CA357973107 rs1345914815 |
86 | K>R | No |
ClinGen gnomAD |
|
|
CA357973098 rs1277965968 |
87 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357973100 rs1277965968 |
87 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374168890 CA103416685 |
92 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780354149 CA3035472 |
92 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275005794 CA357970499 |
94 | L>W | No |
ClinGen TOPMed |
|
|
rs758640117 CA3035471 |
95 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035470 rs368864374 |
97 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA103416682 rs1055341717 |
100 | V>A | No |
ClinGen Ensembl |
|
|
rs896301143 CA103416683 |
100 | V>F | No |
ClinGen TOPMed |
|
|
rs896301143 CA103416684 |
100 | V>I | No |
ClinGen TOPMed |
|
|
rs1316600332 CA357970456 |
101 | L>F | No |
ClinGen gnomAD |
|
|
rs1330115613 RCV001268829 CA357970450 |
102 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA357970439 rs1488924138 |
103 | G>V | No |
ClinGen TOPMed |
|
|
rs1017048327 CA103416681 |
111 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144707881 CA3035469 |
112 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357970368 rs1002054538 |
113 | V>A | No |
ClinGen TOPMed |
|
|
CA103416680 rs1002054538 |
113 | V>G | No |
ClinGen TOPMed |
|
|
CA3035468 rs761943820 |
113 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1579435368 CA357970365 |
114 | H>Y | No |
ClinGen Ensembl |
|
|
CA103416677 rs906105497 |
119 | P>L | No |
ClinGen TOPMed |
|
|
rs569749175 CA103416678 |
119 | P>T | No |
ClinGen 1000Genomes |
|
|
rs905920761 CA103416676 |
120 | H>R | No |
ClinGen Ensembl |
|
|
rs376018295 CA3035466 |
121 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013224771 CA103416675 |
123 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA103416674 rs1043123580 |
125 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA103416673 rs947387010 |
126 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1264136881 CA357970265 |
127 | K>R | No |
ClinGen TOPMed |
|
|
CA103416517 rs1043228885 |
128 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA103416516 rs947552699 |
128 | G>V | No |
ClinGen TOPMed |
|
|
CA357970173 rs1213724402 |
130 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs910776688 CA103416515 |
131 | K>T | No |
ClinGen TOPMed |
|
|
CA357970152 rs1349647294 |
133 | A>T | No |
ClinGen TOPMed |
|
|
rs1270413700 CA357970065 |
140 | M>L | No |
ClinGen gnomAD |
|
|
rs1270413700 CA357970070 |
140 | M>V | No |
ClinGen gnomAD |
|
|
rs1216760409 CA357970032 |
142 | A>T | No |
ClinGen gnomAD |
|
|
rs770794972 CA103416514 |
143 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357970024 rs1363077813 |
143 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs115723993 CA3035455 |
145 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357969985 rs1373777005 |
146 | D>G | No |
ClinGen gnomAD |
|
|
rs976575995 CA103416513 |
146 | D>Y | No |
ClinGen Ensembl |
|
|
rs35835241 CA103416511 VAR_041381 |
151 | I>M | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA357969945 rs1374629687 |
151 | I>V | No |
ClinGen TOPMed |
|
|
rs1178392843 CA357825670 |
153 | Y>C | No |
ClinGen gnomAD |
|
|
CA3035433 rs772474357 |
154 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA357825662 rs1156532868 |
154 | P>L | No |
ClinGen gnomAD |
|
|
CA3035432 rs746213628 |
155 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035430 rs757526126 |
156 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1560911829 CA357825632 |
159 | P>L | No |
ClinGen Ensembl |
|
|
rs1455278232 CA357825634 |
159 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778007258 CA3035428 |
163 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379211208 CA357825601 |
164 | Q>R | No |
ClinGen TOPMed |
|
|
CA102847692 rs938229993 |
165 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3035424 rs754855970 |
170 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3035423 rs531903688 |
172 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357825536 rs1453006790 |
173 | M>I | No |
ClinGen gnomAD |
|
|
CA357825541 rs1386237030 |
173 | M>V | No |
ClinGen TOPMed |
|
|
rs766038883 CA3035422 |
174 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3035419 rs764787207 |
178 | P>T | No |
ClinGen ExAC |
|
|
rs1416800506 CA357825499 |
179 | L>M | No |
ClinGen gnomAD |
|
|
rs1321939642 CA357825495 |
179 | L>W | No |
ClinGen TOPMed |
|
|
rs940964523 CA102847584 |
181 | S>C | No |
ClinGen Ensembl |
|
|
CA357825478 rs1185329264 |
182 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373225780 CA3035418 |
183 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772602911 CA3035416 |
184 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772602911 CA3035417 |
184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308783929 CA357825460 |
185 | S>L | No |
ClinGen TOPMed |
|
|
rs1485189927 CA357825445 |
187 | V>G | No |
ClinGen gnomAD |
|
|
rs370534041 CA3035415 |
189 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262436498 CA357825421 |
191 | G>E | No |
ClinGen TOPMed |
|
|
rs1241192331 CA357825424 |
191 | G>R | No |
ClinGen TOPMed |
|
|
rs912945101 CA102847543 |
195 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774795123 CA3035414 |
195 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035413 rs749588240 |
196 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035410 rs377620473 |
197 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377620473 CA3035411 |
197 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357825371 rs1489836097 |
199 | V>M | No |
ClinGen gnomAD |
|
|
rs763510090 CA3035373 |
201 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA357825347 rs763510090 |
201 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA357825340 rs773733439 |
202 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3035372 rs773733439 |
202 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3035370 rs762129038 |
206 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA357825281 rs1458557710 |
210 | S>C | No |
ClinGen TOPMed |
|
|
CA102846087 rs1001022488 |
210 | S>P | No |
ClinGen gnomAD |
|
|
CA102846082 rs530670850 |
211 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3035369 rs776987269 |
212 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3035367 rs747030430 |
217 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357825235 rs1393218101 |
217 | L>P | No |
ClinGen TOPMed |
|
|
CA357825233 rs1187516147 |
218 | T>P | No |
ClinGen gnomAD |
|
|
CA357825221 rs1474311134 |
219 | L>F | No |
ClinGen gnomAD |
|
|
rs1403135607 CA357825206 |
220 | D>A | No |
ClinGen TOPMed |
|
|
CA3035366 rs200690220 |
220 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366496585 CA357825197 |
221 | C>F | No |
ClinGen gnomAD |
|
|
rs749049329 CA3035342 |
221 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs777579709 RCV000732706 CA3035341 |
222 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1438771366 CA357825175 |
224 | D>E | No |
ClinGen gnomAD |
|
|
CA357825181 rs1349902052 |
224 | D>N | No |
ClinGen TOPMed |
|
|
rs1383178106 CA357825168 |
225 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357825169 rs1383178106 |
225 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3035340 rs758167759 |
226 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3035339 rs747777238 |
227 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357825160 rs1372859876 |
227 | I>V | No |
ClinGen TOPMed |
|
|
rs1409543020 CA357825150 |
228 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165895467 CA357825143 |
230 | A>P | No |
ClinGen gnomAD |
|
|
rs1451273161 CA357825139 |
230 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762878213 COSM1485582 CA102844949 |
232 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA357825122 rs1192508909 |
233 | H>D | No |
ClinGen gnomAD |
|
|
CA357825119 rs1377286891 |
233 | H>R | No |
ClinGen TOPMed |
|
|
CA357825121 rs1192508909 |
233 | H>Y | No |
ClinGen gnomAD |
|
|
CA3035337 rs754528997 |
235 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs751023993 CA3035336 |
236 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA357825083 rs1221856910 |
238 | I>T | No |
ClinGen gnomAD |
|
|
CA3035334 rs757801162 |
239 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1231043420 CA357825077 |
239 | I>M | No |
ClinGen gnomAD |
|
|
rs757801162 CA357825079 |
239 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3035335 COSM1327993 rs765809259 |
239 | I>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3035333 rs575805235 |
240 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779661610 CA3035315 |
241 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs577030895 CA102844469 |
241 | E>K | No |
ClinGen Ensembl |
|
|
CA357825039 rs1207782732 |
244 | E>Q | No |
ClinGen TOPMed |
|
|
CA102844451 rs145662552 |
245 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA357825028 rs1411490888 |
245 | T>I | No |
ClinGen gnomAD |
|
|
CA357825026 rs1442078738 |
246 | V>L | No |
ClinGen TOPMed |
|
|
rs544569244 CA3035314 |
247 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370952172 CA357825020 |
247 | I>V | No |
ClinGen gnomAD |
|
|
rs200179597 CA3035313 |
248 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357825014 rs1185607631 |
248 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 249 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764437169 CA3035312 |
250 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3035309 rs767692734 |
259 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA357824932 rs1279426088 |
260 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3035307 rs759711628 |
260 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1334491972 CA357824907 |
262 | P>T | No |
ClinGen gnomAD |
|
|
rs755203126 CA3035287 |
264 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751710947 CA3035286 |
264 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755203126 CA102843724 |
264 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34770077 VAR_041382 CA3035285 |
265 | D>N | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 265 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3775091 CA357824884 |
266 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357824885 rs3775091 |
266 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765189647 CA3035282 |
266 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322024082 CA357824871 |
268 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1274040257 CA357824857 |
269 | K>N | No |
ClinGen TOPMed |
|
|
rs761609016 CA3035281 |
270 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA102843684 rs988703268 |
270 | D>N | No |
ClinGen TOPMed |
|
|
CA3035280 rs776580685 |
271 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760474795 CA357824827 |
274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760474795 CA3035278 |
274 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA357824824 rs1170131117 |
274 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357824826 rs1170131117 |
274 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1448257270 CA357824821 |
275 | E>K | No |
ClinGen gnomAD |
|
|
CA357824813 rs1392535319 |
276 | V>I | No |
ClinGen gnomAD |
|
|
rs775272781 CA3035277 |
277 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1010651366 CA102843605 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA357824781 rs370040550 |
281 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488908306 CA357824778 |
281 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1488908306 CA357824780 |
281 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs370040550 CA3035275 |
281 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538717258 CA102843588 |
282 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA357824775 rs778242457 |
282 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035274 rs778242457 |
282 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538717258 CA102843592 |
282 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 283 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748591782 CA102843549 |
284 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3035272 rs748591782 |
284 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs79412473 CA3035268 |
285 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035270 rs755330300 |
285 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1320936843 CA357824752 |
286 | P>L | No |
ClinGen gnomAD |
|
|
CA3035267 rs543689231 |
288 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357824741 rs1411471023 |
288 | S>T | No |
ClinGen TOPMed |
|
|
rs765174930 CA3035265 |
290 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373010317 CA357824719 |
292 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1579385272 CA357824704 |
294 | L>P | No |
ClinGen Ensembl |
|
|
rs753822901 CA3035263 |
295 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1201031852 CA357824690 |
296 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA357824692 rs1376029739 |
296 | C>Y | No |
ClinGen gnomAD |
|
|
rs997038529 CA102843448 |
299 | L>V | No |
ClinGen TOPMed |
|
|
CA357824663 rs1434030109 |
300 | T>I | No |
ClinGen gnomAD |
|
|
rs1250038996 CA357824661 |
301 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760528118 CA3035261 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767233770 CA3035260 |
304 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3035259 rs767233770 |
304 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA102843415 rs1047061250 |
304 | D>N | No |
ClinGen Ensembl |
|
|
CA3035258 rs759058439 |
305 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102843394 rs900986956 |
306 | S>R | No |
ClinGen TOPMed |
|
|
CA102843386 rs369301091 |
307 | Q>P | No |
ClinGen ESP |
|
|
CA102843275 rs770276308 |
308 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102843263 rs1041305278 |
309 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA357824605 rs1234746461 |
310 | K>E | No |
ClinGen gnomAD |
|
|
CA102843262 rs1004103406 |
311 | D>N | No |
ClinGen TOPMed |
|
|
rs199502033 CA3035231 |
312 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035232 rs145095585 |
312 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3035230 rs746160750 |
313 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs146794366 CA3035229 |
314 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757455309 CA3035228 |
315 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA357824230 rs1253873528 |
318 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 320 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3035227 rs749415121 |
320 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1002906466 CA102841203 |
321 | S>C | No |
ClinGen TOPMed |
|
|
CA357824179 rs1262053871 |
322 | I>T | No |
ClinGen TOPMed |
|
|
CA3035226 rs777954236 |
322 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206263874 CA357824154 |
324 | E>A | No |
ClinGen gnomAD |
|
|
rs1228165827 CA357824129 |
326 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753594282 CA102841182 |
326 | Y>H | No |
ClinGen Ensembl |
|
|
CA3035223 rs767409791 |
327 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102841161 rs538656483 |
331 | L>V | No |
ClinGen Ensembl |
|
|
rs867203838 CA102841157 |
340 | L>F | No |
ClinGen Ensembl |
|
|
CA3035222 rs754712507 |
341 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751273605 CA3035221 |
342 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1579376686 CA357823914 |
343 | K>T | No |
ClinGen Ensembl |
|
|
CA102841152 rs766079704 |
344 | E>Q | No |
ClinGen gnomAD |
|
|
rs762552974 CA357823870 |
347 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA102841126 rs930916079 |
347 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766283521 CA102841123 |
348 | S>A | No |
ClinGen Ensembl |
|
|
rs749956982 CA3035218 |
349 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA357823819 rs1403750182 |
351 | P>R | No |
ClinGen gnomAD |
|
|
rs1404851227 CA357823824 |
351 | P>S | No |
ClinGen TOPMed |
|
|
CA357823814 rs1164732494 |
352 | I>V | No |
ClinGen gnomAD |
|
|
rs1473115815 CA357823779 |
354 | T>I | No |
ClinGen gnomAD |
|
|
CA357823737 rs1272851249 |
358 | F>L | No |
ClinGen gnomAD |
|
|
CA3035198 rs764787259 |
359 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA102839611 rs761208502 |
362 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377456328 CA357823711 |
362 | D>G | No |
ClinGen TOPMed |
|
|
CA3035195 rs371959745 |
363 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371959745 CA3035194 |
363 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357823702 rs1275643672 |
364 | E>* | No |
ClinGen gnomAD |
|
|
CA357823704 rs1275643672 |
364 | E>K | No |
ClinGen gnomAD |
|
|
CA3035193 rs368072189 |
367 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
COSM1049828 rs1452578209 CA357823660 |
370 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs375102718 CA3035192 |
370 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372034281 CA3035191 |
371 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763329849 CA3035190 |
372 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357823641 rs1166439268 |
373 | S>N | No |
ClinGen Ensembl |
|
|
CA102839572 rs56366017 |
374 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290079269 CA357823634 |
374 | S>P | No |
ClinGen gnomAD |
|
|
CA3035188 rs56366017 |
374 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035184 rs34840340 |
377 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA102839554 rs758176816 |
378 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3035182 rs758176816 |
378 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3035181 rs750127102 |
379 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1445824440 CA357823603 |
379 | T>I | No |
ClinGen TOPMed |
|
|
rs1472038220 CA357823589 |
382 | T>A | No |
ClinGen gnomAD |
|
|
rs778507607 CA3035180 |
382 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA357823574 rs1454125398 |
384 | S>L | No |
ClinGen TOPMed |
|
|
rs201271809 CA3035177 |
384 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357823575 rs1454125398 |
384 | S>W | No |
ClinGen TOPMed |
|
|
CA357823567 rs1279336040 |
385 | L>F | No |
ClinGen gnomAD |
|
|
rs1314032767 CA357823572 |
385 | L>V | No |
ClinGen gnomAD |
|
|
CA3035175 rs766906080 |
386 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs766906080 CA3035174 |
386 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA357823564 rs1327277115 |
386 | C>S | No |
ClinGen gnomAD |
|
|
CA357823536 rs1228530290 |
390 | N>S | No |
ClinGen gnomAD |
|
|
rs920691560 CA102836111 |
392 | L>F | No |
ClinGen Ensembl |
|
|
CA357823495 rs1459764407 |
394 | D>E | No |
ClinGen gnomAD |
|
|
CA3035154 rs779135254 |
395 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3035153 rs779135254 |
395 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3035152 rs199583403 |
401 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1310106082 CA357823446 |
402 | P>S | No |
ClinGen TOPMed |
|
|
rs924351591 CA102836094 |
405 | E>G | No |
ClinGen TOPMed |
|
|
CA357823427 rs1248825250 |
405 | E>K | No |
ClinGen gnomAD |
|
|
rs1245156104 CA357823422 |
406 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750893917 CA3035127 |
408 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA357823394 rs779203595 |
408 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035126 rs779203595 |
408 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323779205 CA357823380 |
410 | N>S | No |
ClinGen gnomAD |
|
|
CA3035124 rs754049795 |
413 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA357823339 rs1330166927 |
416 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA357823333 rs1321499428 |
417 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs572150850 CA3035123 |
417 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1400204291 CA357823305 |
420 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs147556914 RCV001200455 CA3035122 |
422 | A>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34307452 VAR_041383 CA3035121 |
425 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 427 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3035118 rs774327651 |
428 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471481106 CA357823242 |
431 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1365267386 CA357823206 |
436 | E>Q | No |
ClinGen gnomAD |
|
|
CA357823195 rs1182445868 |
437 | Y>C | No |
ClinGen gnomAD |
|
|
rs1441723105 CA357823191 |
438 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769242363 CA102835717 |
439 | L>Q | No |
ClinGen Ensembl |
|
|
rs770676978 CA3035117 |
440 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1560881008 CA357823172 |
441 | R>G | No |
ClinGen Ensembl |
|
|
CA102835708 rs938147374 |
442 | I>M | No |
ClinGen Ensembl |
|
|
rs1384718671 CA357823164 |
442 | I>V | No |
ClinGen TOPMed |
|
|
CA3035116 rs762775278 |
443 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3035115 rs367571873 |
444 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3035112 rs780853410 |
446 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357823140 rs747743755 |
446 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035113 rs747743755 |
446 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357823086 rs1425173967 |
452 | Y>F | No |
ClinGen gnomAD |
|
|
rs1389032560 CA357823080 |
453 | P>L | No |
ClinGen gnomAD |
|
|
CA102835120 rs1046975281 |
454 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs532862191 CA3035084 CA3035086 |
457 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| rs746860249 | 457 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746860249 | 457 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529954017 CA3035083 |
458 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3035082 rs755150208 |
459 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035081 rs751680852 |
460 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035080 rs766310754 |
463 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102835037 rs997239825 |
464 | R>K | No |
ClinGen TOPMed |
|
|
rs929914541 CA357823002 |
464 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1579342363 RCV001008875 |
467 | I>missing | No |
ClinVar dbSNP |
|
|
rs901581080 CA102835023 |
468 | P>L | No |
ClinGen TOPMed |
|
|
rs758360179 COSM1633402 CA3035079 |
468 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765182039 CA3035077 |
469 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3035075 VAR_041384 rs34961213 |
471 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3035076 rs761669262 |
471 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763863667 CA3035074 |
474 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA357822936 rs1369845262 |
475 | T>I | No |
ClinGen gnomAD |
|
|
rs1411145109 CA357822926 |
476 | W>C | No |
ClinGen gnomAD |
|
|
rs1419536885 CA357822913 |
478 | A>V | No |
ClinGen gnomAD |
|
|
CA3035071 rs771482119 |
479 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs867794619 CA102834997 |
481 | G>* | No |
ClinGen gnomAD |
|
|
rs867794619 CA357822902 |
481 | G>R | No |
ClinGen gnomAD |
|
|
CA357822888 rs1356340033 |
483 | E>A | No |
ClinGen TOPMed |
|
|
CA357822865 rs1250554748 |
485 | A>T | No |
ClinGen TOPMed |
|
|
CA357822858 rs1304551558 |
486 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3035052 rs758933723 |
487 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs779039648 CA3035051 |
488 | A>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_030124 rs2305685 CA3035049 RCV000920680 |
489 | K>N | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs370554138 CA3035048 |
490 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1309601 rs377591139 CA3035046 |
491 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780117189 CA3035045 |
492 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772296511 COSM1049823 CA3035044 |
492 | A>V | endometrium Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3035043 rs745967317 |
493 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3035042 rs374100516 |
494 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA102834173 rs969653680 |
496 | D>A | No |
ClinGen Ensembl |
|
|
CA357822774 rs753820424 |
499 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357822771 rs1461526497 |
499 | I>S | No |
ClinGen Ensembl |
|
|
rs753820424 CA3035040 |
499 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357822758 rs1439727804 |
501 | T>I | No |
ClinGen TOPMed |
|
| VAR_041385 | 503 | R>I | a colorectal adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs144079079 CA3035038 |
503 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357822675 rs1361473639 |
512 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 513 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs907354037 CA102833825 CA357822639 |
516 | D>E | No |
ClinGen gnomAD |
|
|
CA3035023 rs114713238 |
516 | D>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1297299530 CA357822635 |
517 | E>A | No |
ClinGen gnomAD |
|
|
rs1297299530 CA357822634 |
517 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 517 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228921515 CA357822637 |
517 | E>Q | No |
ClinGen gnomAD |
|
|
CA357822599 rs1367387776 |
520 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357822605 rs1382375425 |
520 | S>P | No |
ClinGen gnomAD |
|
|
rs138159338 CA3035022 |
521 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756043722 CA3035020 |
523 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3035019 rs377724395 |
525 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3035017 rs754632132 |
526 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460540131 CA357822506 |
526 | A>S | No |
ClinGen gnomAD |
|
|
CA357822510 rs1460540131 |
526 | A>T | No |
ClinGen gnomAD |
|
|
rs751210092 CA3035016 |
527 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357822464 rs1432767736 |
529 | R>W | No |
ClinGen gnomAD |
|
|
COSM200617 rs1267975131 CA357822448 |
530 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3035015 rs200883569 |
530 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762428473 CA3035014 |
533 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269504762 CA357822380 |
534 | A>V | No |
ClinGen gnomAD |
|
|
rs1296819597 CA357822369 |
535 | W>* | No |
ClinGen TOPMed |
|
|
rs1054152784 CA102833734 |
535 | W>R | No |
ClinGen TOPMed |
|
|
rs761185647 CA3035010 |
541 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767917247 CA3035008 |
542 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3035009 rs775720224 |
542 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3035007 rs759892467 |
545 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357822106 rs1406577084 |
550 | S>* | No |
ClinGen gnomAD |
|
|
CA3034985 rs773173168 |
556 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034984 rs769915221 |
557 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA102832881 rs950176813 |
559 | N>S | No |
ClinGen Ensembl |
|
|
CA357822052 rs1181979310 |
559 | N>Y | No |
ClinGen gnomAD |
|
|
CA3034981 rs181980393 |
561 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357822022 rs1236424962 |
563 | E>* | No |
ClinGen TOPMed |
|
|
rs760539039 CA3034962 |
565 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357821994 rs1246798097 |
565 | L>W | No |
ClinGen gnomAD |
|
|
rs1268652904 CA357821985 |
567 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771839389 CA3034960 |
569 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs771839389 RCV000998255 CA357821972 |
569 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1404297839 CA357821954 |
571 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 571 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164992502 CA357821920 |
576 | K>T | No |
ClinGen gnomAD |
|
|
rs962500324 CA102832180 |
577 | Y>* | No |
ClinGen TOPMed |
|
|
rs972857133 CA102832190 |
577 | Y>N | No |
ClinGen TOPMed |
|
|
rs909658169 RCV000599360 |
582 | F>missing | No |
ClinVar dbSNP |
|
|
CA3034956 rs748848605 |
585 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476163673 CA357821840 |
587 | S>A | No |
ClinGen gnomAD |
|
|
rs541114727 CA3034955 |
588 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357821832 rs1290790483 |
588 | H>R | No |
ClinGen gnomAD |
|
|
CA3034954 rs755550871 |
589 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA357821814 rs1223803642 |
591 | Q>R | No |
ClinGen gnomAD |
|
|
CA357821791 rs1372493906 |
592 | E>D | No |
ClinGen gnomAD |
|
|
rs750823464 CA357821787 |
593 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750823464 CA3034931 |
593 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 597 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357821765 rs1265634856 |
597 | F>L | No |
ClinGen TOPMed |
|
|
CA3034930 rs779080157 |
598 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3034929 rs757565417 |
599 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754044813 CA3034928 |
600 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA357821731 rs150221832 |
602 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357821715 rs1400705702 |
604 | H>R | No |
ClinGen gnomAD |
|
|
CA102821322 rs967950866 |
604 | H>Y | No |
ClinGen TOPMed |
|
|
rs1472000371 CA357821702 |
606 | P>A | No |
ClinGen gnomAD |
|
|
CA3034925 rs752731668 |
608 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA102821304 rs879215256 |
609 | S>C | No |
ClinGen Ensembl |
|
|
rs1057341060 CA102821297 |
610 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201803551 CA3034923 |
610 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759330691 CA3034922 |
611 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759655525 CA3034921 |
613 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190415816 CA3034920 |
613 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357821646 rs1422097712 |
614 | E>D | No |
ClinGen TOPMed |
|
|
CA3034919 rs185954446 |
615 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357821636 rs1225330232 |
616 | G>D | No |
ClinGen gnomAD |
|
|
CA357821639 rs1282082588 |
616 | G>S | No |
ClinGen gnomAD |
|
|
CA3034916 rs771127894 |
619 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357821592 rs1490705148 |
621 | L>I | No |
ClinGen gnomAD |
|
|
rs771383864 CA3034887 |
622 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034198791 CA102810617 |
623 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 624 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749673214 CA3034886 |
625 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 625 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3034885 rs778049682 |
626 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1560798830 CA357821552 |
627 | F>V | No |
ClinGen Ensembl |
|
|
CA357821533 rs1368477180 |
630 | M>V | No |
ClinGen TOPMed |
|
|
CA357821511 rs574740376 |
633 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3034883 rs574740376 |
633 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178891678 CA357821478 |
636 | P>S | No |
ClinGen gnomAD |
|
|
CA357821462 rs1369245276 |
638 | H>Q | No |
ClinGen gnomAD |
|
|
CA357821452 rs1318167008 |
640 | I>V | No |
ClinGen gnomAD |
|
|
CA357821443 rs1346078356 |
641 | F>S | No |
ClinGen gnomAD |
|
|
CA3034851 rs763673566 |
641 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA102809919 rs1023704414 |
643 | L>F | No |
ClinGen TOPMed |
|
|
rs1441234147 CA357821415 |
645 | D>Y | No |
ClinGen TOPMed |
|
|
rs1355722843 CA357821402 |
647 | L>V | No |
ClinGen TOPMed |
|
|
rs1379238000 CA357821387 |
649 | L>H | No |
ClinGen gnomAD |
|
|
CA357821378 rs1310047427 |
651 | N>D | No |
ClinGen gnomAD |
|
|
CA3034848 rs767007767 |
653 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs751243214 CA102809897 |
654 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 654 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3034847 rs763511962 |
655 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102809894 rs1025763832 |
655 | P>S | No |
ClinGen Ensembl |
|
|
rs568930497 CA357821343 |
656 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034843 rs369077117 |
659 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768774038 CA357821313 |
661 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777006210 CA3034842 |
661 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768774038 CA3034841 |
661 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747189857 CA3034840 |
662 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3034838 rs772255741 |
664 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388738250 CA357821294 |
664 | Q>H | No |
ClinGen gnomAD |
|
|
CA102809841 rs896700249 |
664 | Q>R | No |
ClinGen TOPMed |
|
|
rs745838420 CA3034837 |
665 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3034835 rs757168343 |
667 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs186168951 CA3034832 |
669 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550366123 CA3034833 |
669 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034831 rs752329234 |
672 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs754455818 CA3034829 |
674 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 675 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3034827 rs751033963 |
680 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3034826 rs765759448 |
682 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA357821184 rs1164588233 |
682 | F>S | No |
ClinGen TOPMed |
|
|
CA102809771 rs765759448 |
682 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs762323766 CA3034825 |
683 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs376331336 CA3034822 |
684 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 685 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347660457 CA357819761 |
688 | I>T | No |
ClinGen gnomAD |
|
|
CA3034808 rs35790205 VAR_041386 |
692 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs376380860 COSM1426252 CA3034807 |
692 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA357819685 rs376380860 |
692 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034805 rs372084821 |
696 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034804 rs372084821 |
696 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026165717 CA102830615 |
697 | S>P | No |
ClinGen TOPMed |
|
|
CA3034803 rs761130456 |
698 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759761980 CA3034801 |
699 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034802 rs775947508 |
699 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3034798 rs527475710 |
702 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034799 rs527475710 |
702 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560756563 CA357819492 |
706 | K>E | No |
ClinGen Ensembl |
|
|
rs1034091595 CA102830560 |
706 | K>T | No |
ClinGen TOPMed |
|
|
rs1248573563 CA357819481 |
707 | S>C | No |
ClinGen gnomAD |
|
|
rs201779302 CA102830546 |
708 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3034796 rs201779302 |
708 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3034795 rs769581714 |
709 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1538884 CA3034794 rs769581714 |
709 | T>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780910465 CA3034792 |
710 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780910465 CA3034793 |
710 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034791 rs768302460 |
710 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA357819425 rs1222868284 |
712 | Q>R | No |
ClinGen gnomAD |
|
|
rs749859244 CA3034788 |
713 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779490203 CA3034789 |
713 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs749859244 CA3034787 |
713 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357819417 rs779490203 |
713 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756630630 CA3034785 |
714 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs148139621 RCV000730414 CA3034784 |
716 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1252225847 CA357819330 |
721 | S>C | No |
ClinGen TOPMed |
|
|
rs1047528874 CA102830454 |
723 | S>N | No |
ClinGen Ensembl |
|
|
rs1192211703 CA357819293 |
724 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 725 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759892485 CA3034782 |
726 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA357819266 rs1579115426 |
727 | R>G | No |
ClinGen Ensembl |
|
|
CA357819248 rs1231195259 |
728 | S>I | No |
ClinGen gnomAD |
|
|
rs570863529 CA102830453 |
728 | S>R | No |
ClinGen Ensembl |
|
|
CA3034780 COSM1176686 rs766412998 |
729 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766412998 CA3034781 |
729 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238632958 CA357819235 |
730 | A>T | No |
ClinGen gnomAD |
|
|
rs773120262 CA357819224 |
731 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3034778 rs773120262 |
731 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769788093 CA3034777 |
732 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3034776 rs761673443 |
736 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102830394 rs992963025 |
737 | C>G | No |
ClinGen Ensembl |
|
|
rs1219698104 CA357819147 |
737 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs371618959 CA3034775 |
738 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1579115219 CA357819136 |
738 | P>S | No |
ClinGen Ensembl |
|
|
rs772271115 CA3034771 |
739 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779786471 CA3034772 |
739 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3034773 rs746714997 |
739 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs367545600 CA102830367 |
740 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA102830366 rs943073627 |
742 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1218974219 CA357972264 |
746 | S>L | No |
ClinGen gnomAD |
|
|
CA357972251 rs1401366220 |
748 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1214362285 CA357972206 |
755 | L>M | No |
ClinGen gnomAD |
|
|
CA103415048 rs939976494 |
755 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3034742 rs770540823 |
760 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs892052198 CA103415046 |
762 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs755496714 CA3034739 |
764 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1477377254 CA357972148 |
765 | A>T | No |
ClinGen gnomAD |
|
|
CA103415044 rs933567080 |
767 | D>E | No |
ClinGen gnomAD |
|
|
CA357972124 rs1478087079 |
768 | L>P | No |
ClinGen gnomAD |
|
|
CA3034738 rs747418110 |
769 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs952827912 CA103415042 |
770 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA103415041 rs375088818 |
772 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750598226 CA3034735 |
773 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3034734 rs765352104 |
774 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3034733 rs757298054 |
775 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1167798596 CA357972063 |
778 | G>D | No |
ClinGen gnomAD |
|
|
CA357972040 rs1345431510 |
781 | K>R | No |
ClinGen gnomAD |
|
|
rs764030502 CA3034731 |
782 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197249754 CA357972026 |
783 | P>L | No |
ClinGen TOPMed |
|
|
CA3034730 rs760461290 |
785 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1368313901 CA357972002 |
787 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA357972001 rs1368313901 |
787 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3034728 rs149002761 |
790 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034726 rs370931233 |
794 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034727 rs370931233 |
794 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034724 rs748831829 |
796 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770665564 CA3034725 |
796 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs908939661 CA103415040 |
797 | V>I | No |
ClinGen Ensembl |
|
|
rs577718921 CA3034721 |
800 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769293834 CA3034722 |
800 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 801 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 801 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103415038 rs879588661 |
802 | S>G | No |
ClinGen Ensembl |
|
|
CA103415037 rs992126997 |
802 | S>N | No |
ClinGen Ensembl |
|
|
CA103415036 rs111859327 |
803 | E>G | No |
ClinGen Ensembl |
|
|
rs1434429368 CA357971896 |
804 | D>N | No |
ClinGen gnomAD |
|
| VAR_041387 | 806 | I>V | a head & Neck squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
COSM1049815 rs371057656 CA3034705 |
807 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767308208 CA103412769 |
807 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483860220 CA357970868 |
808 | G>C | No |
ClinGen gnomAD |
|
|
rs1394450675 CA357970862 |
809 | H>Y | No |
ClinGen TOPMed |
|
|
rs200742458 CA3034700 |
816 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200742458 CA3034701 |
816 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357970805 rs1327402263 |
817 | P>L | No |
ClinGen TOPMed |
|
|
CA357970804 rs1442709521 |
818 | F>L | No |
ClinGen Ensembl |
|
|
rs574279142 CA3034697 |
822 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3034695 rs61733982 |
823 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777876700 CA3034696 |
823 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA357970762 rs1318323071 |
824 | A>E | No |
ClinGen TOPMed |
|
|
rs752779985 CA3034694 |
825 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA357970726 rs781011538 |
830 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781011538 CA3034693 |
830 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs754889123 CA3034692 |
830 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1158899120 CA357970720 |
831 | G>S | No |
ClinGen gnomAD |
|
|
rs372590369 CA3034691 |
832 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357970712 rs1472250263 |
832 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA103412767 rs898420220 |
834 | T>A | No |
ClinGen TOPMed |
|
|
rs1488867091 CA357970685 |
836 | M>I | No |
ClinGen TOPMed |
|
|
RCV000983315 CA3034690 rs766276657 |
836 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001171738 rs1740799305 |
838 | Q>* | No |
ClinVar dbSNP |
|
|
rs750078575 CA3034688 |
838 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA357970672 rs1248751121 |
838 | Q>R | No |
ClinGen TOPMed |
|
|
rs1215033098 CA357970666 |
839 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 841 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761261798 CA3034686 |
842 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764843915 CA3034687 |
842 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 843 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103412766 rs957594751 |
845 | I>M | No |
ClinGen Ensembl |
|
|
rs369393998 CA3034685 |
848 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3034684 rs772460657 |
850 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1467697225 CA357971494 |
859 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA103407494 rs938810809 |
863 | V>A | No |
ClinGen TOPMed |
|
|
CA357971440 rs1477101164 |
864 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1462320896 CA357971426 |
865 | M>I | No |
ClinGen TOPMed |
|
|
CA357971430 rs1374537253 |
865 | M>T | No |
ClinGen TOPMed |
|
|
rs1046331137 CA103407493 |
865 | M>V | No |
ClinGen TOPMed |
|
|
rs1168638718 CA357971407 |
867 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1457462467 CA357971356 |
871 | C>* | No |
ClinGen gnomAD |
|
|
CA3034661 rs766828138 |
871 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357971325 rs1196537320 |
876 | G>D | No |
ClinGen gnomAD |
|
|
rs1375134867 CA357971305 |
879 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 880 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357971296 rs1432926259 |
880 | I>T | No |
ClinGen TOPMed |
|
|
CA357971284 rs1314894198 |
882 | P>T | No |
ClinGen TOPMed |
|
|
rs763326477 CA3034660 |
883 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA357971274 rs1560575585 |
883 | T>I | No |
ClinGen Ensembl |
|
|
rs564746642 CA3034658 RCV000912009 |
887 | T>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA103407492 rs1044529477 |
888 | I>M | No |
ClinGen Ensembl |
|
|
rs748400981 CA3034657 |
888 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328797011 CA357971234 |
890 | S>F | No |
ClinGen gnomAD |
|
|
CA357971228 rs1449475718 |
891 | P>L | No |
ClinGen gnomAD |
|
|
CA357971231 rs1294090101 |
891 | P>S | No |
ClinGen TOPMed |
|
|
rs1355440604 CA357971221 |
892 | Q>H | No |
ClinGen gnomAD |
No associated diseases with Q8TEA7
4 regional properties for Q8TEA7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FAD dependent oxidoreductase | 45 - 407 | IPR006076 |
| domain | Aminomethyltransferase, folate-binding domain | 472 - 737 | IPR006222 |
| domain | Glycine cleavage T-protein, C-terminal barrel domain | 763 - 840 | IPR013977 |
| domain | FAD dependent oxidoreductase, central domain | 410 - 463 | IPR032503 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96DN5 | TBC1D31 | TBC1 domain family member 31 | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFPLKDAEMG | AFTFFASALP | HDVCGSNGLP | LTPNSIKILG | RFQILKTITH | PRLCQYVDIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGKHERLVVV | AEHCERSLED | LLRERKPVSC | STVLCIAFEV | LQGLQYMNKH | GIVHRALSPH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NILLDRKGHI | KLAKFGLYHM | TAHGDDVDFP | IGYPSYLAPE | VIAQGIFKTT | DHMPSKKPLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGPKSDVWSL | GIILFELCVG | RKLFQSLDIS | ERLKFLLTLD | CVDDTLIVLA | EEHGCLDIIK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELPETVIDLL | NKCLTFHPSK | RPTPDQLMKD | KVFSEVSPLY | TPFTKPASLF | SSSLRCADLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPEDISQLCK | DINNDYLAER | SIEEVYYLWC | LAGGDLEKEL | VNKEIIRSKP | PICTLPNFLF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EDGESFGQGR | DRSSLLDDTT | VTLSLCQLRN | RLKDVGGEAF | YPLLEDDQSN | LPHSNSNNEL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SAAATLPLII | REKDTEYQLN | RIILFDRLLK | AYPYKKNQIW | KEARVDIPPL | MRGLTWAALL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVEGAIHAKY | DAIDKDTPIP | TDRQIEVDIP | RCHQYDELLS | SPEGHAKFRR | VLKAWVVSHP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DLVYWQGLDS | LCAPFLYLNF | NNEALAYACM | SAFIPKYLYN | FFLKDNSHVI | QEYLTVFSQM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IAFHDPELSN | HLNEIGFIPD | LYAIPWFLTM | FTHVFPLHKI | FHLWDTLLLG | NSSFPFCIGV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AILQQLRDRL | LANGFNECIL | LFSDLPEIDI | ERCVRESINL | FCWTPKSATY | RQHAQPPKPS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SDSSGGRSSA | PYFSAECPDP | PKTDLSRESI | PLNDLKSEVS | PRISAEDLID | LCELTVTGHF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KTPSKKTKSS | KPKLLVVDIR | NSEDFIRGHI | SGSINIPFSA | AFTAEGELTQ | GPYTAMLQNF |
| 850 | 860 | 870 | 880 | 890 | |
| KGKVIVIVGH | VAKHTAEFAA | HLVKMKYPRI | CILDGGINKI | KPTGLLTIPS | PQI |