Q96S06
PR
Gene name |
LMF1 (C16orf26, TMEM112, HMFN1876, JFP11) |
Protein name |
Lipase maturation factor 1 |
Names |
Transmembrane protein 112 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64788 |
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 Q96S06
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96S06-F1 | Predicted | AlphaFoldDB |
696 variants for Q96S06
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002479136 CA7797785 rs199831082 RCV002382194 RCV000972900 |
32 | A>V | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002493320 rs147688306 RCV002440569 RCV000730094 CA7797691 RCV000907767 |
101 | R>T | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7797667 RCV003169269 RCV000905432 rs115313199 RCV002505318 |
128 | L>F | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329917 rs2069779467 |
347 | Q>E | Lipase deficiency, combined [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001329918 RCV002546360 rs201734228 CA7797163 RCV002322262 |
380 | V>M | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs115416993 CA7797075 RCV002385961 RCV000883435 RCV000625426 RCV001701417 |
431 | A>D | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121909397 CA114516 RCV002512620 RCV000000828 |
439 | Y>* | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000133508 CA170562 rs587777626 |
464 | W>* | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002502844 rs532127028 CA7796958 RCV000931236 |
491 | D>N | Lipase deficiency, combined [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs780108281 CA7797815 |
3 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394112034 rs1296151481 |
3 | P>S | No |
ClinGen gnomAD |
|
|
rs769789622 CA7797814 |
5 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7797811 rs757588466 |
6 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276558965 rs1008726814 |
6 | P>L | No |
ClinGen TOPMed |
|
|
CA7797812 rs757588466 |
6 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535159109 CA276558951 |
9 | A>V | No |
ClinGen 1000Genomes |
|
|
CA394111844 rs1245919258 |
11 | P>L | No |
ClinGen TOPMed |
|
|
rs777832678 CA7797809 |
11 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752712034 CA7797807 |
12 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752712034 CA7797808 |
12 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759977380 CA7797805 |
14 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765733159 CA7797806 |
14 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765733159 CA276558893 |
14 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759977380 CA394111792 |
14 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276558875 rs1032212507 |
16 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394111765 rs1264860590 |
16 | R>W | No |
ClinGen gnomAD |
|
|
CA7797804 rs754222774 |
17 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766688892 CA7797803 |
18 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774113284 CA7797801 |
19 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1241061126 CA394111639 |
20 | T>A | No |
ClinGen TOPMed |
|
|
rs375907650 CA394111634 |
20 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375907650 CA7797800 |
20 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276558832 rs375907650 |
20 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762530099 CA394111618 |
21 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762530099 CA7797799 |
21 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389373532 CA394111592 |
22 | Y>* | No |
ClinGen gnomAD |
|
|
CA7797798 rs775084151 |
22 | Y>F | No |
ClinGen ExAC |
|
|
CA7797796 rs745764691 |
23 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs769877904 CA7797797 |
23 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431634283 CA394111553 |
24 | D>E | No |
ClinGen gnomAD |
|
|
rs746764539 CA394111567 |
24 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480895629 CA394111564 |
24 | D>V | No |
ClinGen gnomAD |
|
|
rs746764539 CA7797793 |
24 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197530532 CA394111541 |
25 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778121998 CA7797792 |
25 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394111545 rs1197530532 |
25 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394111511 rs1187078581 |
26 | E>D | No |
ClinGen gnomAD |
|
|
CA394111518 rs1366728753 |
26 | E>G | No |
ClinGen TOPMed |
|
|
rs1262487007 CA394111522 |
26 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA276558776 rs758478909 |
27 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276558771 rs758478909 |
27 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797791 rs758478909 |
27 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394111438 rs1596178085 |
29 | S>* | No |
ClinGen Ensembl |
|
|
rs755509622 CA7797788 |
30 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7797787 rs368337185 |
31 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596178061 CA394111424 |
31 | P>S | No |
ClinGen Ensembl |
|
|
rs902066842 CA276558714 |
32 | A>S | No |
ClinGen Ensembl |
|
|
CA394111375 rs763820508 |
33 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1320315048 CA394111359 |
33 | P>L | No |
ClinGen gnomAD |
|
|
CA7797783 rs763820508 |
33 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1408736726 CA394111333 |
34 | G>E | No |
ClinGen gnomAD |
|
|
rs1191066644 CA394111345 |
34 | G>W | No |
ClinGen TOPMed |
|
|
CA7797779 rs759097865 |
35 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7797781 rs759097865 |
35 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7797780 rs759097865 |
35 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111980103 CA7797777 |
36 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797778 rs776764135 |
36 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772359935 CA7797774 |
38 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797775 rs531928966 |
38 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394111254 rs772359935 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748329854 CA7797773 |
39 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1343794115 CA394111228 |
40 | S>F | No |
ClinGen gnomAD |
|
|
rs755098921 CA7797771 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7797769 rs549466264 |
42 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7797768 rs756521202 |
43 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7797767 rs750823465 |
44 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs974624219 CA394111050 |
46 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA276558556 rs974624219 |
46 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394111028 rs1169726465 |
47 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1460583497 CA394111004 |
49 | F>C | No |
ClinGen gnomAD |
|
|
rs965954981 CA276558513 |
49 | F>V | No |
ClinGen TOPMed |
|
|
CA394110992 rs1228708441 |
50 | W>G | No |
ClinGen TOPMed |
|
|
rs1167928854 CA394110991 |
50 | W>L | No |
ClinGen gnomAD |
|
|
rs1445126515 CA394110967 |
51 | L>V | No |
ClinGen gnomAD |
|
|
rs757614342 CA7797764 |
52 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394110949 rs1348395304 |
53 | R>Q | No |
ClinGen TOPMed |
|
|
CA7797763 rs752448298 |
53 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7797761 rs759181295 |
59 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273238319 CA394110797 |
60 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394110804 rs1481813622 |
60 | L>V | No |
ClinGen gnomAD |
|
|
rs1247381557 CA394110784 |
61 | A>S | No |
ClinGen gnomAD |
|
|
CA394110789 rs1247381557 |
61 | A>T | No |
ClinGen gnomAD |
|
|
rs959393017 CA276558475 |
62 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs370716130 CA276558445 |
63 | V>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7797760 rs776211649 |
63 | V>M | No |
ClinGen ExAC gnomAD |
|
| rs200377478 | 65 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200377478 CA7797726 |
65 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760477227 CA7797758 |
65 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753472646 CA7797724 |
66 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753472646 CA276539731 |
66 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779735217 CA276539707 |
67 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779735217 CA7797723 |
67 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366658492 CA394106670 |
67 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755635357 CA7797722 |
68 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs767371193 CA7797720 |
70 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1204443046 CA394106622 |
71 | A>T | No |
ClinGen gnomAD |
|
|
CA394106601 rs1254403681 |
72 | F>C | No |
ClinGen TOPMed |
|
|
rs1490533263 CA394106608 |
72 | F>I | No |
ClinGen gnomAD |
|
|
rs1490533263 CA394106605 |
72 | F>L | No |
ClinGen gnomAD |
|
|
rs751387702 CA7797718 |
73 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1344357550 CA394106581 |
73 | H>R | No |
ClinGen TOPMed |
|
|
CA7797717 rs145036605 |
75 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775636405 CA7797715 |
76 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs371364612 CA7797714 |
77 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759535337 CA7797713 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7797711 rs372696701 |
79 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141010394 CA394106443 |
79 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1045081351 CA276539655 |
80 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394105764 rs1456811175 |
81 | D>G | No |
ClinGen gnomAD |
|
|
rs778392530 CA7797709 |
81 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772614041 CA7797708 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs772614041 CA394105758 |
82 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA394105726 rs1459025382 |
83 | G>A | No |
ClinGen gnomAD |
|
|
rs755734981 CA7797704 |
85 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394105639 rs1269525472 |
86 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394105632 rs1269525472 |
86 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394105642 rs1567314956 |
86 | P>S | No |
ClinGen Ensembl |
|
|
CA7797702 rs780642602 |
87 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1487434883 CA394105616 |
87 | C>Y | No |
ClinGen gnomAD |
|
|
CA394105567 rs1567314904 |
89 | V>A | No |
ClinGen Ensembl |
|
|
CA394105571 rs1264648832 |
89 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs973487168 CA276539591 |
90 | F>C | No |
ClinGen Ensembl |
|
|
rs1265916702 CA394105501 |
92 | K>R | No |
ClinGen gnomAD |
|
|
CA7797700 rs756729919 |
93 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7797698 rs764008007 |
95 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001169941 rs1237709439 |
97 | Y>* | No |
ClinVar dbSNP |
|
|
rs752473648 CA7797696 |
99 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797693 rs369424855 CA7797694 |
100 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35124265 CA7797695 |
100 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158762020 CA394105254 |
101 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM966902 CA7797689 rs370024606 |
102 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7797690 COSM4128616 rs370024606 |
102 | T>R | thyroid [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1431369125 CA394105191 |
103 | S>G | No |
ClinGen gnomAD |
|
|
CA7797687 rs774729607 |
103 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA394105139 rs1190006119 |
105 | E>A | No |
ClinGen TOPMed |
|
|
rs1245930126 CA394105114 |
106 | V>A | No |
ClinGen gnomAD |
|
|
CA7797685 rs745576137 |
106 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394105102 rs1483340356 |
107 | F>L | No |
ClinGen gnomAD |
|
|
CA394105085 rs1257249441 |
107 | F>L | No |
ClinGen gnomAD |
|
|
rs1003275734 CA276539473 |
108 | S>G | No |
ClinGen TOPMed |
|
|
CA394105050 rs1230523425 |
108 | S>R | No |
ClinGen gnomAD |
|
|
rs371258105 CA7797683 |
110 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394105020 rs1296984129 |
110 | M>V | No |
ClinGen gnomAD |
|
|
rs777696863 CA394104992 |
111 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777696863 CA7797681 |
111 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777696863 CA7797682 |
111 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975017870 CA276539445 |
111 | P>T | No |
ClinGen TOPMed |
|
|
CA394104988 rs1396471701 |
112 | T>P | No |
ClinGen TOPMed |
|
|
CA394104952 rs1237939662 |
113 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276539403 rs964081489 |
114 | L>F | No |
ClinGen gnomAD |
|
|
CA394104851 rs1451208479 |
117 | M>I | No |
ClinGen gnomAD |
|
|
CA394104860 rs1169184783 |
117 | M>R | No |
ClinGen gnomAD |
|
|
rs1373693441 CA394104877 |
117 | M>V | No |
ClinGen gnomAD |
|
|
COSM1380644 CA276539386 rs1047361482 |
118 | D>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs760904098 CA7797674 |
118 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760904098 CA7797675 |
118 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394104758 rs1442785078 |
119 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773359023 CA7797673 |
119 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA7797672 rs768161861 |
120 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394104749 rs1257912037 |
120 | S>A | No |
ClinGen gnomAD |
|
|
CA276539377 rs768161861 |
120 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394104748 rs1257912037 |
120 | S>P | No |
ClinGen gnomAD |
|
|
rs1274682128 CA394104704 |
121 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394104693 rs1207954762 |
122 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1340591944 CA394104687 |
122 | M>T | No |
ClinGen gnomAD |
|
|
rs1207954762 CA394104702 |
122 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1294083549 CA394104645 |
124 | S>C | No |
ClinGen TOPMed |
|
|
CA394104640 rs1323912190 |
125 | N>H | No |
ClinGen TOPMed |
|
|
rs1481282304 CA394104580 |
126 | L>Q | No |
ClinGen TOPMed |
|
|
rs749606732 CA7797668 |
127 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA394104503 rs1333151539 |
130 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746539422 CA7797665 |
130 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777212924 CA394104488 |
131 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777212924 CA7797664 |
131 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777212924 CA394104491 |
131 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030852813 CA276539350 |
132 | L>F | No |
ClinGen Ensembl |
|
|
CA7797662 COSM966900 CA394104454 rs748153798 |
133 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs778690054 CA7797661 |
134 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs549008037 CA7797658 |
137 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394104384 rs1421837597 |
137 | S>A | No |
ClinGen TOPMed |
|
|
CA7797657 rs549008037 |
137 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200382562 CA7797655 |
138 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554812625 CA7797653 |
140 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs554812625 CA276539299 |
140 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797651 rs765423510 |
141 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7797648 rs375529211 |
143 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394104243 rs1349926632 |
145 | C>G | No |
ClinGen gnomAD |
|
|
CA7797646 rs771658591 |
145 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797644 rs369031841 COSM302565 |
146 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1214270646 CA394104213 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA7797643 rs182685983 |
147 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs933521406 CA276539237 |
147 | N>S | No |
ClinGen Ensembl |
|
|
CA7797641 rs779955738 |
148 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7797642 rs749108524 |
148 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs755942630 CA394104179 |
149 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394104173 rs1162075014 |
149 | L>R | No |
ClinGen Ensembl |
|
|
CA7797640 rs755942630 |
149 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394104169 rs922113767 |
150 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 150 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276539200 rs922113767 |
150 | L>V | No |
ClinGen TOPMed |
|
|
rs1200236564 CA394104157 |
151 | M>L | No |
ClinGen gnomAD |
|
|
CA394104134 rs1180918674 |
152 | A>G | No |
ClinGen TOPMed |
|
|
rs750724599 CA276539185 |
152 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750724599 CA7797639 |
152 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781259146 CA394104121 |
153 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781259146 CA7797638 |
153 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394104115 rs764678952 |
154 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764678952 CA7797636 |
154 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975431860 CA276539172 |
155 | W>* | No |
ClinGen Ensembl |
|
|
CA7797634 rs763405270 |
156 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561927645 CA276539157 |
158 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs142481016 CA394104028 |
159 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142481016 CA7797633 |
159 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276539129 rs956451977 |
160 | S>F | No |
ClinGen gnomAD |
|
|
CA7797632 rs765626657 |
160 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA394103987 rs1160973885 |
161 | L>V | No |
ClinGen gnomAD |
|
|
CA7797631 rs369313218 |
162 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369313218 CA394103973 |
162 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1030718844 CA276539128 |
162 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7797630 rs772973170 |
163 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs35663121 RCV000947659 VAR_053829 RCV002336994 CA7797629 |
164 | V>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7797628 rs761389802 |
166 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs773676589 CA7797627 |
167 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7797626 rs768735729 |
168 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7797546 rs767339349 |
169 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA394129964 rs1233828390 |
170 | S>F | No |
ClinGen TOPMed gnomAD |
|
| rs764311912 | 171 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376658034 CA7797545 |
171 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597027226 CA394129960 |
171 | F>I | No |
ClinGen Ensembl |
|
|
CA7797544 rs376658034 |
171 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797542 rs201406396 |
172 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567116600 CA276558728 |
177 | L>F | No |
ClinGen gnomAD |
|
|
CA7797467 rs750412611 |
178 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs535976210 CA7797466 |
180 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596974567 CA394115843 |
182 | F>V | No |
ClinGen Ensembl |
|
|
rs1333780867 CA394115822 |
184 | G>R | No |
ClinGen gnomAD |
|
|
CA394115769 rs1441357354 |
186 | F>S | No |
ClinGen gnomAD |
|
|
rs776329119 CA7797461 |
189 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394115616 rs1385005508 |
192 | T>A | No |
ClinGen gnomAD |
|
|
CA276558657 rs370179235 |
192 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797459 rs370179235 |
192 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363592703 CA394115596 |
193 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1363592703 CA394115592 |
193 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394115469 rs1251425856 |
198 | Q>H | No |
ClinGen gnomAD |
|
|
rs1596974386 CA394115483 |
198 | Q>P | No |
ClinGen Ensembl |
|
|
CA7797455 rs775000455 |
199 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447675527 CA394115414 |
201 | P>A | No |
ClinGen gnomAD |
|
|
rs565159724 CA7797454 |
201 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348536993 CA394115373 |
203 | S>F | No |
ClinGen gnomAD |
|
|
CA276558599 VAR_030487 rs11540337 |
203 | S>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs756241120 CA7797451 |
204 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375836686 CA7797452 |
204 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797448 rs757335676 |
209 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182946890 CA394115227 |
211 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3927561 rs182946890 CA7797445 |
211 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs764576629 CA7797446 |
211 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766082325 CA7797443 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7797415 rs769532338 |
222 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337833479 CA394107010 |
224 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1282757987 CA394106990 |
226 | I>F | No |
ClinGen gnomAD |
|
|
rs776718553 CA394106966 |
227 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs776718553 CA7797413 |
227 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3957947 rs573828508 CA7797414 |
227 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754772870 CA394106954 |
228 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754772870 CA7797412 |
228 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754772870 CA276541916 |
228 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367017632 CA394106947 |
229 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394106950 rs1367017632 |
229 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs192224688 RCV000887028 RCV002363329 CA7797409 |
230 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7797410 rs376563644 |
230 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797408 rs199953320 |
233 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748706054 CA7797407 |
233 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779463192 CA7797406 |
234 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424071356 CA394106845 |
234 | D>G | No |
ClinGen TOPMed |
|
|
rs367755048 CA276541859 |
234 | D>Y | No |
ClinGen ESP gnomAD |
|
|
CA394106840 rs1266228331 |
235 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs373943083 CA276541857 |
236 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs373943083 CA394106828 |
236 | T>N | No |
ClinGen ESP gnomAD |
|
|
CA276541849 rs960301029 |
237 | C>* | No |
ClinGen TOPMed |
|
|
CA276541851 rs992814111 |
237 | C>Y | No |
ClinGen TOPMed |
|
|
CA394106783 rs1475433901 |
238 | M>I | No |
ClinGen gnomAD |
|
|
CA276541848 rs370864352 |
238 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1567194996 CA394106731 |
240 | F>L | No |
ClinGen Ensembl |
|
|
CA7797405 rs34295987 |
240 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754165819 CA394106690 |
242 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754165819 CA7797404 |
242 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394132051 rs1339673984 |
244 | T>I | No |
ClinGen gnomAD |
|
|
rs1456183599 CA394132056 |
244 | T>P | No |
ClinGen Ensembl |
|
|
CA394132031 rs1307363051 |
246 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA276586029 rs539982071 |
247 | M>V | No |
ClinGen 1000Genomes |
|
|
CA7797376 rs766214202 |
249 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394131996 rs766214202 |
249 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs760453350 CA394131984 |
250 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760453350 CA7797375 |
250 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797374 rs773491556 COSM178085 |
252 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA394131931 rs1161991404 |
254 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1042146700 CA276586002 |
255 | L>P | No |
ClinGen TOPMed |
|
|
CA7797371 CA7797372 rs774441819 |
256 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1364874340 CA394131911 |
256 | H>R | No |
ClinGen gnomAD |
|
|
CA394131915 rs1457785919 |
256 | H>Y | No |
ClinGen gnomAD |
|
|
rs564167344 CA7797370 |
259 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564167344 CA394131873 |
259 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1596888601 CA394131842 |
260 | W>C | No |
ClinGen Ensembl |
|
|
rs1194461279 CA394131852 |
260 | W>S | No |
ClinGen gnomAD |
|
|
CA7797367 rs770348738 |
262 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797368 rs372289554 |
262 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7797366 rs746165846 |
263 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777579889 CA394131784 |
264 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777579889 CA7797365 |
264 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758016731 CA7797364 |
264 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758016731 CA394131781 |
264 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758016731 CA394131782 |
264 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394131779 rs1376005075 |
265 | F>L | No |
ClinGen TOPMed |
|
|
CA394131755 rs1441111300 |
266 | E>D | No |
ClinGen gnomAD |
|
|
rs778529081 CA7797362 |
266 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797361 rs754428234 |
267 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797359 rs201175347 |
268 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7797358 rs755908725 |
269 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418289480 CA394131708 |
270 | N>S | No |
ClinGen gnomAD |
|
|
rs542483119 CA276585943 |
271 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA7797356 rs542483119 |
271 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7797355 rs762056405 |
273 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764289696 CA7797353 |
273 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776141708 CA7797351 |
274 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7797352 COSM116013 rs531415593 |
274 | E>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1487191600 CA394131638 |
275 | L>F | No |
ClinGen gnomAD |
|
|
rs1205422306 CA394131617 |
277 | V>M | No |
ClinGen TOPMed |
|
|
CA394131597 rs1346753196 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA394131607 rs1411748007 |
278 | P>S | No |
ClinGen Ensembl |
|
|
rs61745065 CA7797350 RCV000957353 RCV002434323 |
279 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394131580 rs372333537 |
280 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797348 rs372333537 |
280 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372333537 CA7797349 |
280 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326465253 CA394131565 |
281 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394131560 rs1300612063 |
281 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394131559 rs1300612063 |
281 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394131562 rs1326465253 |
281 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7797347 rs771171827 |
282 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1171510658 CA394131540 |
283 | L>H | No |
ClinGen TOPMed |
|
|
CA7797344 rs928471580 |
284 | G>S | No |
ClinGen TOPMed |
|
|
CA276585884 rs374533571 |
285 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs768282717 CA7797342 |
285 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7797340 rs370484104 |
286 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542258212 CA7797341 |
286 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755996576 CA7797339 |
287 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394131450 rs1240222090 |
290 | I>F | No |
ClinGen TOPMed |
|
|
rs1173491234 CA394131445 |
290 | I>T | No |
ClinGen Ensembl |
|
|
rs867736095 CA276585836 |
291 | H>Y | No |
ClinGen Ensembl |
|
|
CA7797332 rs763104459 |
292 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7797333 CA276585835 rs764154907 |
292 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 292 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596887908 CA394131405 |
293 | V>G | No |
ClinGen Ensembl |
|
|
CA7797331 rs553406973 |
293 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771388880 CA7797327 |
297 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394131332 rs760946397 |
298 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs554054538 CA7797325 |
299 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797322 CA7797321 rs376162377 |
299 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797323 rs577358020 |
299 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs747889014 CA7797278 |
301 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797279 rs183552168 |
301 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs574168622 CA276576713 |
303 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755202526 CA7797276 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797273 rs756197816 |
304 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763719430 CA7797274 |
304 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767942772 CA7797272 |
305 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394128046 rs1366953759 |
306 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs372159961 CA7797270 |
306 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274193820 CA394128023 |
307 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764897558 CA7797268 |
309 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA394127965 rs1418841013 CA394127968 |
310 | F>L | No |
ClinGen gnomAD |
|
|
CA7797265 rs753503972 |
313 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753503972 CA276576625 |
313 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759148122 CA7797266 |
313 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs375860692 CA276576614 |
315 | T>N | No |
ClinGen ESP |
|
|
rs765861000 CA7797264 |
316 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs775541555 CA394127774 |
319 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775541555 CA7797259 |
319 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774248480 CA7797258 |
319 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394127776 rs775541555 |
319 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211660589 CA394127760 |
320 | L>P | No |
ClinGen gnomAD |
|
|
CA394127763 rs1439916071 |
320 | L>V | No |
ClinGen TOPMed |
|
|
rs768541252 CA7797257 |
321 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1216408145 CA394127754 |
321 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394127725 rs1258023222 |
322 | C>R | No |
ClinGen gnomAD |
|
|
CA7797256 rs749523296 |
323 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769766473 CA7797254 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797252 rs781680266 |
327 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7797250 rs371225062 |
328 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394127512 rs1379562168 |
329 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7797248 rs758773994 |
333 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7797246 rs765992133 |
334 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797244 rs534392393 COSM1740297 |
335 | G>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7797243 rs767595021 |
336 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797242 rs761881874 |
338 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7797240 rs776584760 |
342 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276576506 rs776584760 |
342 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797239 rs762740737 |
342 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797238 rs372774570 |
345 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394127180 rs201767825 |
346 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201767825 CA7797236 |
346 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781286786 CA7797235 |
348 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539750134 CA276576481 |
348 | R>K | No |
ClinGen 1000Genomes |
|
|
rs377670067 CA276576477 |
349 | D>N | No |
ClinGen gnomAD |
|
|
rs1394058307 CA394127099 |
351 | R>* | No |
ClinGen gnomAD |
|
|
CA394127101 rs1394058307 |
351 | R>G | No |
ClinGen gnomAD |
|
|
CA7797233 RCV000454875 RCV002402225 RCV000971193 rs192520307 |
351 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs892199168 CA276576459 |
352 | G>R | No |
ClinGen Ensembl |
|
|
CA7797232 rs778245767 |
353 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7797231 rs778245767 |
353 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA394127077 rs1596864861 |
353 | A>V | No |
ClinGen Ensembl |
|
|
rs138461953 CA7797229 |
354 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138461953 CA7797228 |
354 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001683755 CA7797230 RCV001256827 rs143076454 RCV002402799 |
354 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7797225 rs199615983 |
356 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394127042 rs199615983 |
356 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376657106 CA276576395 |
357 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376657106 CA7797224 |
357 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596864773 CA394127003 |
358 | R>I | No |
ClinGen Ensembl |
|
|
rs1163175973 CA394126994 |
358 | R>S | No |
ClinGen gnomAD |
|
|
rs1373752852 CA394126975 |
359 | F>C | No |
ClinGen TOPMed |
|
|
rs762677583 CA7797222 |
360 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762677583 CA7797221 |
360 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7797188 rs368408082 |
362 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797189 rs781604757 |
362 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001256826 VAR_053830 RCV001683754 CA7797186 RCV002447239 rs35168378 |
364 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7797187 rs540153402 |
364 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752743392 CA7797184 |
365 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778646907 CA7797183 |
365 | R>H | Variant assessed as Somatic; 5.456e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394126768 rs778646907 |
365 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797182 rs754783431 |
366 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276575996 rs936184702 |
367 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753584866 CA7797181 |
367 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7797180 rs760931691 |
368 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394126713 rs750588216 |
368 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797179 rs760931691 |
368 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373856375 CA7797177 |
369 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373856375 CA7797176 |
369 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769234511 CA7797174 COSM975061 |
370 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770260895 CA7797171 |
372 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs199513661 COSM1520253 CA7797168 |
373 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778846872 CA7797166 |
374 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953926077 CA276575926 |
376 | A>V | No |
ClinGen TOPMed |
|
|
CA394126558 rs1338962572 |
378 | L>F | No |
ClinGen gnomAD |
|
|
rs36055899 CA394126537 |
379 | S>I | No |
ClinGen gnomAD |
|
|
rs36055899 CA276575924 |
379 | S>N | No |
ClinGen gnomAD |
|
|
rs1408203743 CA394126514 |
381 | P>L | No |
ClinGen gnomAD |
|
|
CA394126502 rs1473638917 |
382 | V>A | No |
ClinGen gnomAD |
|
|
CA394126510 rs370036895 |
382 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797161 rs370036895 |
382 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1182549623 CA394126465 |
384 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1182549623 CA394126467 |
384 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751552083 CA7797157 |
390 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764237677 CA7797156 |
391 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7797155 rs763603573 |
391 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776127319 CA7797154 |
392 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394126195 rs1241056699 |
393 | M>I | No |
ClinGen gnomAD |
|
|
CA7797153 rs770344920 |
393 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394126217 rs1314645627 |
393 | M>T | No |
ClinGen gnomAD |
|
|
rs770344920 CA394126246 |
393 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186694298 CA7797150 |
395 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797151 rs186694298 |
395 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567155059 CA394126129 |
396 | H>P | No |
ClinGen Ensembl |
|
|
CA7797148 CA394126113 rs778438058 |
396 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7797149 rs368805282 |
396 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797147 rs768136643 |
399 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA394126058 rs1162546204 |
400 | L>F | No |
ClinGen gnomAD |
|
|
CA394126031 rs1374212473 |
401 | H>D | No |
ClinGen TOPMed |
|
|
CA7797145 rs755943591 |
402 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797144 rs755943591 |
402 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394125972 rs757459816 |
403 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797141 rs757459816 |
403 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573273784 CA7797142 |
403 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394125961 rs1450239528 |
404 | N>S | No |
ClinGen gnomAD |
|
|
rs868822583 CA276575812 |
406 | Y>* | No |
ClinGen ESP |
|
| TCGA novel | 406 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7797138 rs376753256 |
407 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7797136 rs753257420 |
408 | A>D | No |
ClinGen ExAC |
|
|
rs558259540 CA7797137 |
408 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558259540 CA394125886 |
408 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765778525 CA7797135 |
409 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199713950 CA7797133 |
410 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371840523 CA394124749 |
414 | K>N | No |
ClinGen gnomAD |
|
|
rs1170233327 CA394124746 |
415 | E>K | No |
ClinGen gnomAD |
|
|
CA7797093 rs762640109 |
416 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs762640109 CA7797092 |
416 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1005825469 CA276575018 |
416 | R>W | No |
ClinGen TOPMed |
|
|
CA394124675 rs1181911306 |
417 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394124669 rs1181911306 |
417 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759015041 CA7797089 |
418 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7797088 rs776446973 |
419 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776446973 CA394124629 |
419 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276574987 rs887346658 |
422 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs770851422 CA7797086 |
422 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760576908 CA7797085 |
423 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1322059609 CA620311456 |
423 | G>P | No |
ClinGen gnomAD |
|
|
rs370807438 CA394124562 |
424 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394124572 rs1381566119 |
424 | T>P | No |
ClinGen gnomAD |
|
|
rs370807438 CA7797083 |
424 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394124556 rs1567153323 |
425 | A>S | No |
ClinGen Ensembl |
|
|
rs1395024798 CA394124450 |
427 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1395024798 CA394124448 |
427 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs901474180 CA276574949 |
428 | N>D | No |
ClinGen Ensembl |
|
|
CA394124414 rs1276354355 |
428 | N>I | No |
ClinGen TOPMed |
|
|
rs1276354355 CA394124439 |
428 | N>T | No |
ClinGen TOPMed |
|
|
CA276574946 rs943108215 |
429 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371223508 CA7797078 |
429 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552526212 CA276574943 |
430 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs1596860752 CA394124368 |
430 | S>N | No |
ClinGen Ensembl |
|
|
CA394124359 CA394124363 rs148734358 |
430 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797076 rs186247027 RCV000923045 |
431 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA394124337 rs115416993 |
431 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs977272300 CA276574916 |
432 | P>A | No |
ClinGen Ensembl |
|
|
rs977272300 CA394124324 |
432 | P>S | No |
ClinGen Ensembl |
|
|
CA394124303 rs201927375 |
433 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201927375 CA7797072 |
433 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797071 rs752292990 |
434 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1567153098 CA394124233 |
435 | M>I | No |
ClinGen Ensembl |
|
|
CA276574900 rs917242405 |
435 | M>T | No |
ClinGen TOPMed |
|
|
rs1567153088 CA394124212 |
436 | W>R | No |
ClinGen Ensembl |
|
|
rs1358333322 CA394124180 |
437 | E>A | No |
ClinGen gnomAD |
|
|
CA7797070 rs764885027 |
439 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778629426 CA7797068 |
440 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394124053 rs1333413820 |
441 | F>L | No |
ClinGen gnomAD |
|
|
CA394124017 rs1387921472 |
442 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1567152988 CA394123896 |
445 | P>A | No |
ClinGen Ensembl |
|
|
rs1370359965 CA394123871 |
446 | G>D | No |
ClinGen gnomAD |
|
|
rs577482583 CA7797066 |
447 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1273014496 CA394123767 |
448 | P>L | No |
ClinGen TOPMed |
|
|
rs772059919 CA394123684 |
451 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797063 COSM417215 rs772059919 |
451 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV002382188 CA7797064 rs138205062 RCV000963720 |
451 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 452 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753871887 CA7797061 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs575350994 CA7797058 |
455 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1255298292 CA394123551 |
455 | I>V | No |
ClinGen gnomAD |
|
|
rs769848664 CA7797057 |
456 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769848664 CA394123536 |
456 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797054 rs757628838 |
457 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394123519 rs757628838 |
457 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7797055 rs757628838 |
457 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394123525 rs1286321154 |
457 | P>T | No |
ClinGen gnomAD |
|
|
CA7797052 rs778460990 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7797051 rs754698878 |
460 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs753409067 CA7797050 |
461 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1213479 rs557053661 CA7797049 |
461 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7797048 rs557053661 |
461 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394123346 rs1567152737 |
463 | D>E | No |
ClinGen Ensembl |
|
|
CA7797047 rs750391160 |
463 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380800485 CA394123317 |
464 | W>C | No |
ClinGen gnomAD |
|
|
rs1160512664 CA394123343 |
464 | W>R | No |
ClinGen TOPMed |
|
|
rs767509063 CA7797046 |
466 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761539611 CA7797045 |
467 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA394123221 rs1431377972 |
468 | F>I | No |
ClinGen gnomAD |
|
|
CA7797043 rs181731943 |
469 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7797042 rs574656841 |
469 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394123136 rs1444967235 |
470 | A>D | No |
ClinGen gnomAD |
|
|
CA394123100 rs1260584119 |
471 | F>C | No |
ClinGen gnomAD |
|
|
rs769864558 CA7797040 |
472 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200876477 CA276574813 |
472 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs935836772 CA276574814 |
472 | Q>R | No |
ClinGen gnomAD |
|
|
rs770446199 CA276574112 |
475 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7796977 rs549735506 |
475 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746641073 CA7796975 |
476 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425641489 CA394121931 |
477 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs377384616 CA7796973 |
478 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377384616 CA276574103 |
478 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748148224 CA7796972 |
479 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7796968 rs372490098 |
481 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7796970 rs529649549 |
481 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs778756884 CA7796971 |
481 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394121771 rs1467999702 |
483 | L>P | No |
ClinGen TOPMed |
|
|
CA394121755 rs1409326742 |
484 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1181212853 CA394121743 |
484 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7796961 rs757412243 |
488 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs34934602 CA394121609 |
490 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240521402 CA394121615 |
490 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7796956 rs775754688 |
492 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7796954 COSM240498 rs145008721 |
493 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7796952 rs376340194 |
494 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772912003 CA7796953 |
494 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1451659304 CA394121519 |
495 | L>V | No |
ClinGen gnomAD |
|
|
CA394121501 rs1158246154 |
496 | S>Y | No |
ClinGen gnomAD |
|
|
CA394121486 rs1431231772 |
497 | L>R | No |
ClinGen gnomAD |
|
|
CA394121471 rs1567150522 |
499 | A>S | No |
ClinGen Ensembl |
|
|
rs747600410 CA7796951 |
499 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276574039 rs768541855 |
501 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394121418 rs1596857029 |
501 | N>K | No |
ClinGen Ensembl |
|
|
rs768541855 CA7796949 |
501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774296427 CA7796950 |
501 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394121369 rs1596857017 |
503 | F>L | No |
ClinGen Ensembl |
|
|
CA7796948 rs749219178 |
504 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7796947 rs369478194 |
504 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1326274087 CA394121326 |
505 | G>D | No |
ClinGen gnomAD |
|
|
CA7796945 rs746145984 |
506 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394121287 rs1419940608 |
506 | R>T | No |
ClinGen TOPMed |
|
|
rs372213215 CA7796942 |
508 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372213215 CA7796943 |
508 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276574026 rs896758953 |
508 | P>S | No |
ClinGen Ensembl |
|
|
rs989431710 CA276574024 |
509 | P>T | No |
ClinGen TOPMed |
|
|
CA394115091 rs200676184 |
510 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758877005 CA7796940 |
510 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA276557915 rs370333269 |
511 | W>* | No |
ClinGen gnomAD |
|
|
CA276557914 rs370333269 |
511 | W>C | No |
ClinGen gnomAD |
|
|
rs944074143 CA276557900 |
512 | V>I | No |
ClinGen TOPMed |
|
|
rs772298418 CA7796887 |
513 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748287562 CA7796886 |
513 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420336215 CA394115046 |
514 | G>R | No |
ClinGen Ensembl |
|
|
rs768606512 CA7796884 |
515 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768606512 CA394115023 |
515 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1347511606 CA394115012 |
515 | E>V | No |
ClinGen gnomAD |
|
|
rs756488965 CA7796881 |
518 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781376194 CA7796879 |
521 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7796878 rs758116895 |
523 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151137164 CA7796877 |
523 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758116895 CA394114911 |
523 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 524 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7796876 rs764868188 |
524 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7796875 rs200159114 |
525 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229346110 CA394114902 |
525 | G>R | No |
ClinGen TOPMed |
|
|
rs760578962 CA7796872 |
526 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766368885 CA7796874 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766368885 CA7796873 |
526 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1247967212 CA394114886 |
527 | R>M | No |
ClinGen gnomAD |
|
|
rs1184816146 CA394114871 |
528 | H>Y | No |
ClinGen gnomAD |
|
|
rs767195675 CA7796870 |
529 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 529 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774434840 CA7796868 |
530 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000965314 CA7796867 RCV002400121 RCV001701385 rs190958016 |
531 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA276557807 rs751666631 |
531 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394114816 rs1448750704 |
532 | G>D | No |
ClinGen gnomAD |
|
|
rs1315804529 CA394114825 |
532 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA276557795 rs377691039 |
534 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1342159718 CA394114795 |
534 | W>R | No |
ClinGen gnomAD |
|
|
rs1596815969 CA394114750 |
536 | V>G | No |
ClinGen Ensembl |
|
|
CA394114752 rs1395199265 |
536 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1395199265 CA394114757 |
536 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs533542876 CA394114733 |
537 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533542876 CA7796864 |
537 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs555435528 CA7796865 COSM178073 |
537 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7796862 rs781662141 |
538 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA276557773 rs1050320890 |
539 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394114707 rs1050320890 |
539 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7796861 rs771192189 |
540 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276557766 rs747840267 |
540 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372798022 CA276557749 |
541 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377058908 CA7796859 |
541 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1041527113 CA276557746 |
542 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1041527113 CA394114658 |
542 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7796858 rs201449851 |
543 | Y>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs199843015 COSM1213477 CA7796855 |
546 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs199843015 CA7796854 |
546 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182814476 CA394114585 |
547 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567126910 CA394114566 |
548 | S>T | No |
ClinGen Ensembl |
|
|
rs767415527 CA7796852 |
549 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011538962 CA276557695 |
550 | E>Q | No |
ClinGen Ensembl |
|
|
CA7796850 rs751822327 |
551 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7796849 rs764255880 |
552 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7796848 rs763055499 |
554 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA394114484 rs763055499 |
554 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1407660766 CA394114488 |
554 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775592092 CA7796847 |
555 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7796846 rs769848585 |
556 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7796844 rs199544373 |
559 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7796843 rs772175934 |
559 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7796842 rs747287736 |
560 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276557668 rs747287736 |
560 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778659577 CA7796841 |
561 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs4984948 CA7796840 VAR_030488 |
562 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1269821917 CA394114388 |
562 | P>T | No |
ClinGen gnomAD |
|
|
CA7796839 rs199591347 |
563 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394114382 rs1254805197 |
563 | L>V | No |
ClinGen gnomAD |
|
|
CA7796836 rs750381542 |
565 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7796837 rs375775799 |
565 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780935989 CA394114337 |
567 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780935989 CA7796835 |
567 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275005664 CA394114315 |
568 | L>L | No |
ClinGen gnomAD |
1 associated diseases with Q96S06
[MIM: 246650]: Combined lipase deficiency (CLD)
Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). {ECO:0000269|PubMed:17994020}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). {ECO:0000269|PubMed:17994020}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q96S06
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96S06 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein maturation | Any process leading to the attainment of the full functional capacity of a protein. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPDSPTMAA | PAESLRRRKT | GYSDPEPESP | PAPGRGPAGS | PAHLHTGTFW | LTRIVLLKAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFVYFVAFLV | AFHQNKQLIG | DRGLLPCRVF | LKNFQQYFQD | RTSWEVFSYM | PTILWLMDWS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DMNSNLDLLA | LLGLGISSFV | LITGCANMLL | MAALWGLYMS | LVNVGHVWYS | FGWESQLLET |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFLGIFLCPL | WTLSRLPQHT | PTSRIVLWGF | RWLIFRIMLG | AGLIKIRGDR | CWRDLTCMDF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HYETQPMPNP | VAYYLHHSPW | WFHRFETLSN | HFIELLVPFF | LFLGRRACII | HGVLQILFQA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLIVSGNLSF | LNWLTMVPSL | ACFDDATLGF | LFPSGPGSLK | DRVLQMQRDI | RGARPEPRFG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SVVRRAANVS | LGVLLAWLSV | PVVLNLLSSR | QVMNTHFNSL | HIVNTYGAFG | SITKERAEVI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQGTASSNAS | APDAMWEDYE | FKCKPGDPSR | RPCLISPYHY | RLDWLMWFAA | FQTYEHNDWI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IHLAGKLLAS | DAEALSLLAH | NPFAGRPPPR | WVRGEHYRYK | FSRPGGRHAA | EGKWWVRKRI |
| 550 | 560 | ||||
| GAYFPPLSLE | ELRPYFRDRG | WPLPGPL |