Q96TA1
Gene name |
NIBAN2 |
Protein name |
Protein Niban 2 |
Names |
Meg-3, Melanoma invasion by ERK, MINERVA, Niban-like protein 1, Protein FAM129B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64855 |
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
2 structures for Q96TA1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7CTP | X-ray | 180 A | A | 2-560 | PDB |
| AF-Q96TA1-F1 | Predicted | AlphaFoldDB |
682 variants for Q96TA1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1237821465 CA375176650 |
3 | D>G | No |
ClinGen TOPMed |
|
|
rs751782877 CA5248142 |
3 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893290433 CA201165520 |
5 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1303164823 CA375176619 |
8 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1468736657 CA375176617 |
8 | H>Q | No |
ClinGen gnomAD |
|
|
rs1232511245 CA375176615 |
9 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375176593 rs1406756070 |
12 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA201165512 rs1025119122 |
14 | R>C | No |
ClinGen gnomAD |
|
|
rs990992552 CA201165499 |
16 | H>L | No |
ClinGen TOPMed |
|
|
CA375176565 rs1410051782 |
16 | H>Q | No |
ClinGen TOPMed |
|
|
rs1311548936 CA375176569 |
16 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5248124 rs139344456 |
20 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5248123 rs777969730 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163243069 CA375175229 COSM1460095 |
25 | L>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5248122 rs146201580 |
26 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5248121 COSM3395576 rs146201580 COSM1242255 |
26 | T>M | pancreas oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs755039023 CA5248119 |
27 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375175193 rs1390551203 |
30 | Q>H | No |
ClinGen TOPMed |
|
|
rs1222586896 CA375175187 |
31 | F>S | No |
ClinGen gnomAD |
|
|
rs756095017 CA5248116 |
35 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375235621 CA200258472 |
37 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5248115 rs750268900 |
38 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375175134 rs1213272894 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5248113 rs761543447 |
41 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA375175119 rs1357205731 |
41 | F>S | No |
ClinGen TOPMed |
|
|
CA375175114 rs1205029958 |
42 | N>D | No |
ClinGen TOPMed |
|
|
CA5248112 rs773811404 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763627681 CA5248111 |
43 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5248109 rs143275059 CA5248110 |
43 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM752678 rs1227581070 CA375175096 |
44 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771469290 CA5248108 |
44 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs371920682 CA5248107 |
45 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773683224 COSM292749 CA5248106 |
45 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748405028 CA5248104 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5248103 rs778959952 |
48 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5248102 rs201665892 |
49 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201665892 CA200258471 |
49 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368077273 CA5248101 |
50 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1208828145 CA375175062 |
50 | G>S | No |
ClinGen gnomAD |
|
|
rs1588166711 CA375175058 |
51 | T>A | No |
ClinGen Ensembl |
|
|
CA5248100 rs780246456 |
51 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA375175055 rs780246456 |
51 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5248097 rs767352381 |
54 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375175034 rs1343680020 |
55 | Q>R | No |
ClinGen gnomAD |
|
|
rs1300709103 CA375175022 |
56 | A>S | No |
ClinGen gnomAD |
|
|
CA375175026 rs1300709103 |
56 | A>T | No |
ClinGen gnomAD |
|
|
rs751249160 CA5248095 |
59 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5248094 rs371821621 |
61 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs762563150 CA5248093 |
61 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375174938 rs762563150 |
61 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA375174945 rs371821621 |
61 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374973255 rs1259071014 |
63 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA374973217 rs1173273237 |
65 | L>V | No |
ClinGen gnomAD |
|
|
CA5248065 rs769087468 |
66 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143489395 CA5248066 |
66 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182478049 CA5248063 |
67 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374973197 rs1338536194 |
67 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM455366 rs769941762 CA5248062 |
68 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs138792807 CA5248061 |
68 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374973181 rs769941762 |
68 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374845565 CA5248060 |
69 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3413344 CA5248058 rs541599134 COSM3413345 |
70 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374973147 rs541599134 |
70 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5248056 rs368490986 |
72 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200797290 CA5248054 |
74 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754633835 CA374973046 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754633835 CA5248053 |
75 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs765905648 CA5248051 |
76 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1215989744 CA374973020 |
76 | F>S | No |
ClinGen gnomAD |
|
|
rs757758810 CA5248050 |
77 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA374973002 rs757758810 |
77 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA374972983 rs1294194236 |
77 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374972943 rs1220589133 |
79 | Q>R | No |
ClinGen gnomAD |
|
|
CA5248049 rs752049706 |
80 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199858966 rs1018370537 |
81 | D>E | No |
ClinGen Ensembl |
|
|
CA5248048 rs764587574 |
81 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA5248046 rs375771095 |
82 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775976278 CA5248045 |
84 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374972735 rs1276306450 |
88 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5248043 COSM280942 rs549746967 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs549746967 CA374972729 |
88 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1276306450 CA374972740 |
88 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 91 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374972683 rs1266164191 |
91 | L>P | No |
ClinGen TOPMed |
|
|
COSM1105342 rs776632695 CA5248041 |
92 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374972651 rs1265982133 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs1263650284 CA374972613 |
94 | H>L | No |
ClinGen gnomAD |
|
|
CA374972570 rs746952339 |
96 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5248040 rs770984314 |
96 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370720142 CA5248037 |
97 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5248038 rs370720142 |
97 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374972550 rs1422100447 |
98 | L>P | No |
ClinGen gnomAD |
|
|
rs999816109 CA199858955 |
100 | L>F | No |
ClinGen Ensembl |
|
|
CA199858953 rs75835777 |
101 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201758465 CA5248035 |
101 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5248033 rs547821680 |
102 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5248032 rs779439041 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5248030 rs752137422 |
104 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374972449 rs527792182 |
105 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1454432753 CA374972452 |
105 | A>T | No |
ClinGen Ensembl |
|
|
rs527792182 CA5248029 |
105 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5247999 rs762857729 |
107 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375126632 CA5247997 |
109 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375126632 CA5247996 |
109 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247998 rs775120448 |
109 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374971532 rs1207987286 |
110 | Q>H | No |
ClinGen gnomAD |
|
|
rs201445763 CA374971474 |
111 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5247994 COSM3847686 rs201445763 |
111 | V>G | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs755416285 CA5247991 |
112 | P>L | No |
ClinGen ExAC |
|
|
CA5247987 rs750582287 |
114 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5247986 rs767584590 |
115 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA5247984 rs143200470 |
116 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247985 rs147548410 |
116 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139246176 CA5247983 |
118 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544648831 CA5247982 |
119 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5247981 rs575722854 |
119 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs962144039 CA199858456 |
122 | Y>C | No |
ClinGen Ensembl |
|
|
CA374971116 rs1320381466 |
122 | Y>H | No |
ClinGen gnomAD |
|
|
CA199858454 rs1019088353 |
123 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374971058 rs1367034836 |
123 | K>R | No |
ClinGen TOPMed |
|
|
CA5247980 rs769655791 |
126 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769655791 CA374970941 |
126 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889351224 CA199858452 |
127 | S>Y | No |
ClinGen Ensembl |
|
|
CA5247977 rs146496636 |
128 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146496636 CA5247976 |
128 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247975 rs777115465 |
130 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243485514 CA374970687 |
134 | L>P | No |
ClinGen TOPMed |
|
|
rs1490454798 CA374970650 |
135 | I>T | No |
ClinGen TOPMed |
|
|
rs749743591 CA5247973 |
137 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs749743591 CA5247974 |
137 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA374970517 rs113635787 |
140 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247972 rs113635787 |
140 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247948 rs747143090 |
142 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374969922 rs747143090 |
142 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247947 rs550046797 |
143 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148122479 CA5247943 |
146 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564301870 CA374969811 |
146 | S>P | No |
ClinGen Ensembl |
|
|
rs766071759 CA5247941 |
147 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199858164 rs944462596 |
148 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1489678 CA374969727 rs1197237555 |
149 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 150 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247940 rs760386366 |
150 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1235501532 CA374969626 |
151 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772668983 CA5247939 |
152 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300814996 CA374969564 |
153 | K>R | No |
ClinGen gnomAD |
|
|
rs1300814996 CA374969569 |
153 | K>T | No |
ClinGen gnomAD |
|
|
CA374969458 rs1359636928 |
156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374969445 rs1588161081 |
156 | T>I | No |
ClinGen Ensembl |
|
|
CA5247936 rs761365112 |
157 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA374969401 rs1444393736 |
158 | F>L | No |
ClinGen gnomAD |
|
|
rs773824609 CA5247935 |
158 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs547390879 CA5247934 |
159 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5247930 rs747289335 |
162 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5247929 rs777810202 |
165 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs932165843 CA199858154 |
165 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5247928 rs368076473 |
166 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247926 rs559492611 COSM150721 |
167 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5247924 rs148940802 |
168 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147101023 CA5247923 |
168 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374969084 rs1564301770 |
169 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247921 rs750109688 |
172 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1237668902 CA374969019 |
172 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767118080 CA5247920 |
173 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5247919 rs761452503 |
174 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA374968961 rs1397747476 |
174 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs144153796 CA5247917 |
178 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1251739 rs1053267708 CA199858141 |
178 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA374968831 COSM271246 rs1439442732 |
179 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374968805 rs1369443647 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
rs201972811 CA5247915 |
181 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1588160938 CA374968605 |
189 | D>G | No |
ClinGen Ensembl |
|
|
CA374968610 rs1422592360 |
189 | D>H | No |
ClinGen gnomAD |
|
|
rs1205784096 CA374968551 |
191 | I>L | No |
ClinGen gnomAD |
|
|
CA374968520 rs772489458 |
192 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247911 rs772489458 |
192 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773593282 CA5247912 |
192 | R>W | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588160907 CA374968503 |
193 | H>Y | No |
ClinGen Ensembl |
|
|
rs1169433371 CA374968472 |
194 | C>G | No |
ClinGen TOPMed |
|
|
CA5247910 rs574705265 |
195 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs928898969 CA199858129 |
196 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199856904 rs374309098 |
199 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5247884 rs780973652 |
199 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs546026967 CA5247883 |
200 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1012564890 CA199856902 |
203 | K>E | No |
ClinGen TOPMed |
|
|
rs746686598 CA5247882 |
203 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199856898 rs758013461 |
208 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247880 rs758013461 |
208 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289523954 CA374964987 |
211 | D>E | No |
ClinGen gnomAD |
|
|
rs764790646 CA5247878 |
211 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756590981 CA5247877 COSM1460094 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1398722495 CA374964939 |
214 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA199856895 rs557183200 |
215 | M>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA374964898 rs1221660805 |
217 | R>* | No |
ClinGen TOPMed |
|
|
rs1415080533 CA374964897 |
217 | R>Q | No |
ClinGen gnomAD |
|
|
rs1427396009 CA374964882 |
218 | Q>E | No |
ClinGen gnomAD |
|
|
CA199856894 rs776987381 |
219 | S>F | No |
ClinGen Ensembl |
|
|
rs202060817 CA5247876 |
221 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112085953 CA199856890 |
223 | Y>C | No |
ClinGen gnomAD |
|
|
COSM1674844 COSM1674843 CA374964793 rs1490814073 |
223 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs112085953 CA374964784 |
223 | Y>S | No |
ClinGen gnomAD |
|
|
rs892032640 CA199856887 |
224 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774831020 CA5247873 |
225 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374964730 rs1442452958 |
226 | W>L | No |
ClinGen gnomAD |
|
|
rs764480989 CA5247872 |
227 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5247870 rs775450090 |
230 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5247868 rs200408710 |
233 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588156269 CA374964525 |
234 | V>L | No |
ClinGen Ensembl |
|
|
CA374964076 rs1263298439 |
242 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1474571112 CA374964080 |
242 | M>T | No |
ClinGen gnomAD |
|
|
rs1195318917 CA374963928 |
246 | G>A | No |
ClinGen gnomAD |
|
|
rs1554765657 CA374963948 |
246 | G>S | No |
ClinGen Ensembl |
|
|
CA374963092 rs1288318217 |
253 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs757854593 CA374963080 |
254 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757854593 CA5247839 |
254 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs567489926 CA5247838 |
255 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA199856731 rs949854154 |
255 | P>S | No |
ClinGen TOPMed |
|
|
rs942990871 CA199856726 |
256 | R>Q | No |
ClinGen Ensembl |
|
|
CA5247836 rs528422288 |
256 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5247835 rs752982270 |
257 | L>V | No |
ClinGen ExAC |
|
|
CA374962984 rs1294399421 |
258 | K>Q | No |
ClinGen gnomAD |
|
|
CA199856723 rs958664647 |
259 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA374962913 rs1588155787 |
260 | K>N | No |
ClinGen Ensembl |
|
|
CA5247833 rs368493830 |
261 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368493830 CA374962901 |
261 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765537378 CA5247834 |
261 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374962747 rs760610518 |
264 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760610518 CA5247830 |
264 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139508754 CA5247831 |
264 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150543761 CA5247827 |
266 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247828 rs374266414 |
266 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755295232 CA5247797 |
271 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA374962311 rs1377421221 |
272 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1360397846 CA374962253 |
273 | D>V | No |
ClinGen gnomAD |
|
|
rs901693409 CA199856688 |
274 | A>S | No |
ClinGen gnomAD |
|
|
CA5247793 rs750580619 |
275 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374962122 rs147526033 |
277 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247790 rs147526033 |
277 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775395342 CA5247788 |
277 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5247789 rs61742100 |
277 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374962033 rs1177250674 |
278 | M>L | No |
ClinGen gnomAD |
|
|
CA374961954 rs1419008015 |
279 | V>A | No |
ClinGen gnomAD |
|
|
CA199856680 rs1055620927 |
279 | V>M | No |
ClinGen TOPMed |
|
|
CA5247786 rs765051115 |
280 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5247785 rs139210254 |
281 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776220337 CA5247784 |
282 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA374961751 rs1276762151 |
284 | K>M | No |
ClinGen TOPMed |
|
|
CA374961687 rs140486340 |
285 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147294840 CA5247783 |
285 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247782 rs140486340 |
285 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247780 rs202219424 |
286 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247779 COSM1651495 rs749689723 COSM1105338 |
286 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374961585 CA5247778 rs756382989 |
287 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247776 rs746012686 |
288 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247775 CA374961451 rs757238376 |
290 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247774 rs757238376 |
290 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751640282 CA5247773 |
291 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 292 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758406762 CA5247771 |
293 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247770 rs752599208 |
295 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247769 rs765067952 |
295 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA199856662 rs954429436 |
297 | V>L | No |
ClinGen TOPMed |
|
|
rs759229840 CA5247768 |
298 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753390875 CA5247767 |
298 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138211609 CA5247766 |
299 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199856657 rs950198104 |
300 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs150439612 CA5247763 |
301 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247764 rs772674360 |
301 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374960913 rs1263470572 |
303 | A>P | No |
ClinGen TOPMed |
|
|
rs1261386723 CA374960855 |
304 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770106268 CA374960821 |
305 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247759 rs770106268 |
305 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746127851 CA374960765 |
306 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA199856650 rs748154341 |
306 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371085080 CA5247756 |
309 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1464587213 CA374960655 |
309 | M>V | No |
ClinGen TOPMed |
|
|
rs963915552 CA199856647 |
310 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs368195302 CA5247755 |
312 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374960305 rs1341971403 |
314 | T>A | No |
ClinGen gnomAD |
|
|
CA374960276 rs141392004 |
314 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247754 rs141392004 |
314 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1341971403 CA374960314 |
314 | T>P | No |
ClinGen gnomAD |
|
|
CA374960063 rs1391938484 |
320 | A>D | No |
ClinGen gnomAD |
|
|
rs758425249 CA5247753 |
320 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5247752 rs752617608 |
324 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5247751 rs778880991 |
324 | R>Q | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5247711 rs776876414 |
326 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761011053 CA5247709 |
327 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs761011053 CA5247710 |
327 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772398032 CA5247706 |
329 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247707 rs772398032 |
329 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247703 rs774480906 |
330 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247704 rs748275528 |
330 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA199853995 rs774480906 |
330 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432585831 CA374956508 |
331 | A>T | No |
ClinGen gnomAD |
|
|
CA199853994 rs377686230 |
334 | C>W | No |
ClinGen ESP gnomAD |
|
|
rs1179119334 CA374956415 |
334 | C>Y | No |
ClinGen gnomAD |
|
|
CA5247701 rs574506801 |
335 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374128661 CA5247699 |
336 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779715730 CA5247700 |
336 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA374956318 rs1323478175 |
337 | N>H | No |
ClinGen gnomAD |
|
|
rs370582135 CA5247698 |
338 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374956123 rs1347550190 |
341 | P>L | No |
ClinGen gnomAD |
|
|
rs780863400 CA5247697 |
343 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs553619776 CA5247696 |
344 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 345 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA199853991 rs1021547146 |
346 | I>V | No |
ClinGen TOPMed |
|
|
rs755447369 CA5247693 |
350 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA374955835 rs1414408132 |
351 | M>I | No |
ClinGen gnomAD |
|
|
rs766673423 CA5247691 |
352 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA374955775 rs1174213962 |
354 | T>A | No |
ClinGen TOPMed |
|
|
rs761168162 CA5247690 |
354 | T>N | No |
ClinGen ExAC |
|
|
rs967723354 CA199853990 |
358 | F>I | No |
ClinGen Ensembl |
|
|
CA5247688 rs767914409 |
361 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010285462 CA199853989 |
362 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 362 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374955413 rs1259035907 |
367 | K>R | No |
ClinGen gnomAD |
|
|
rs1185274770 CA374955369 |
369 | V>I | No |
ClinGen gnomAD |
|
|
CA5247685 rs768713976 |
370 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5247684 rs749213184 |
370 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199853988 rs145531660 |
371 | D>Y | No |
ClinGen ESP TOPMed |
|
|
CA5247682 rs769689758 |
372 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745730530 CA5247681 |
376 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780953007 CA5247680 |
377 | I>V | No |
ClinGen ExAC |
|
|
CA374955122 COSM1206083 rs1232824519 |
379 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA374955057 rs140423692 |
381 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374955054 rs1588151343 |
381 | G>D | No |
ClinGen Ensembl |
|
|
rs140423692 CA5247677 COSM160897 |
381 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5247676 rs540149997 |
382 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374954968 rs1205418344 |
384 | K>Q | No |
ClinGen TOPMed |
|
|
rs752123683 CA5247675 |
386 | G>S | No |
ClinGen ExAC |
|
|
CA5247672 rs750871615 |
387 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1299377727 CA374954071 |
389 | M>I | No |
ClinGen gnomAD |
|
|
rs376859514 CA5247647 |
389 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247646 rs765238042 |
390 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1353539934 CA374953958 |
392 | L>M | No |
ClinGen gnomAD |
|
|
CA374953906 rs1176392630 |
393 | S>P | No |
ClinGen gnomAD |
|
|
rs770835912 CA5247644 |
394 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770835912 CA5247643 |
394 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375242377 CA5247645 |
394 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374953818 rs772875373 |
396 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247641 rs772875373 |
396 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247642 rs772875373 |
396 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253368694 CA374953793 |
397 | Y>D | No |
ClinGen gnomAD |
|
|
CA374953753 rs1588150420 |
398 | H>P | No |
ClinGen Ensembl |
|
|
CA374953739 rs1238227388 |
398 | H>Q | No |
ClinGen gnomAD |
|
|
rs1002407596 CA199853831 |
398 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588150409 CA374953685 |
400 | L>P | No |
ClinGen Ensembl |
|
|
rs1277926473 CA374953605 |
403 | Q>H | No |
ClinGen gnomAD |
|
|
CA199853829 rs1022973680 |
404 | S>T | No |
ClinGen TOPMed |
|
|
CA5247636 rs371866914 |
406 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781775048 CA5247634 |
411 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757701903 CA5247633 |
413 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs747464870 CA5247632 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374953278 rs532985458 |
415 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5247631 rs532985458 |
415 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374953227 rs1173402184 |
416 | G>R | No |
ClinGen gnomAD |
|
|
rs1007895082 CA199853828 |
418 | Q>* | No |
ClinGen Ensembl |
|
|
CA374953123 rs1454676347 |
420 | R>Q | No |
ClinGen gnomAD |
|
|
CA374953028 rs1588150358 |
422 | D>E | No |
ClinGen Ensembl |
|
|
rs1366023746 CA374952953 |
424 | S>F | No |
ClinGen gnomAD |
|
|
CA5247628 rs765325817 |
425 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755103095 CA5247627 |
426 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199853827 rs112626528 |
428 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs112626528 CA5247625 |
428 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1209866487 CA374952686 |
432 | R>* | No |
ClinGen gnomAD |
|
|
CA5247624 rs760512238 |
432 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262383084 CA374952634 |
433 | A>T | No |
ClinGen gnomAD |
|
|
rs773069484 CA5247623 |
435 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5247621 rs761557803 |
438 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247619 rs768399125 |
438 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768399125 CA5247620 |
438 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247622 rs761557803 |
438 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453484364 CA374952376 |
439 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190742477 CA374950638 |
442 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5247593 rs779233626 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374950546 rs1253502362 |
444 | A>V | No |
ClinGen gnomAD |
|
|
CA374950511 rs1203889019 |
445 | V>G | No |
ClinGen TOPMed |
|
|
rs749442375 CA5247591 |
445 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA199853776 rs957168977 |
446 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5247590 rs780212910 |
447 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374950318 rs1227108228 |
449 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374950283 rs1372223884 |
450 | T>N | No |
ClinGen gnomAD |
|
|
rs1306212988 CA374950263 |
451 | L>V | No |
ClinGen gnomAD |
|
|
CA5247587 rs781029894 |
453 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757249342 CA5247586 |
454 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1394577849 CA374950079 |
455 | E>K | No |
ClinGen gnomAD |
|
|
rs1588149898 CA374950025 |
456 | L>R | No |
ClinGen Ensembl |
|
|
rs763915075 CA5247584 |
457 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA199853774 rs987078182 |
459 | G>E | No |
ClinGen Ensembl |
|
|
rs376530400 CA5247583 |
462 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 463 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247582 rs752246319 |
464 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA374949672 rs1246109495 |
467 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955254047 CA374949630 |
468 | S>C | No |
ClinGen gnomAD |
|
|
CA199853773 rs955254047 |
468 | S>F | No |
ClinGen gnomAD |
|
|
CA5247579 rs776203950 |
469 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5247580 rs759011266 |
469 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5247578 rs772509598 |
471 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374949528 rs1282922087 |
471 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA374949503 rs1280695837 |
472 | V>I | No |
ClinGen gnomAD |
|
|
rs768965151 CA374949377 |
475 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247575 rs768965151 |
475 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779130348 CA199853772 |
475 | R>W | No |
ClinGen TOPMed |
|
|
CA374948993 rs1188630808 |
481 | D>E | No |
ClinGen gnomAD |
|
|
rs1253131819 CA374948996 |
481 | D>G | No |
ClinGen TOPMed |
|
|
rs1419855882 COSM1105333 CA374949012 |
481 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1197734178 CA374948979 |
482 | Y>C | No |
ClinGen TOPMed |
|
|
CA374948988 rs1175220571 |
482 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM1292794 rs372270814 CA5247530 |
483 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA374948908 rs1194824413 |
484 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA374948839 rs1299771498 |
487 | V>M | No |
ClinGen TOPMed |
|
|
rs772145640 CA5247528 |
488 | R>G | No |
ClinGen ExAC |
|
|
CA5247527 rs201233827 |
488 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772145640 CA5247529 |
488 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA199853741 rs1003409103 |
490 | R>K | No |
ClinGen TOPMed |
|
|
rs1221013569 CA374948733 |
490 | R>S | No |
ClinGen gnomAD |
|
|
rs778602006 CA374948628 |
493 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247526 rs778602006 |
493 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374948537 COSM141278 rs1216080262 |
495 | A>V | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1564292908 CA374948449 |
499 | I>F | No |
ClinGen Ensembl |
|
|
rs1441547016 CA374948425 |
499 | I>M | No |
ClinGen gnomAD |
|
|
CA374948411 rs1373182512 |
500 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369275279 CA5247523 |
501 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247522 rs762335780 |
502 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5247520 rs766948602 |
503 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA374948201 rs1564292860 |
509 | A>D | No |
ClinGen Ensembl |
|
|
CA5247517 rs765640749 |
509 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1564292860 CA374948182 |
509 | A>V | No |
ClinGen Ensembl |
|
|
CA5247516 rs759988005 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374948165 rs759988005 |
510 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1222392858 CA374948122 |
512 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5247515 rs754252948 |
513 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs200796169 CA5247514 |
514 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247487 rs769529372 |
515 | E>K | No |
ClinGen ExAC |
|
|
rs745642516 CA5247486 |
517 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201427745 CA5247484 |
518 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780940200 CA5247485 |
518 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5247483 rs746590065 |
520 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1262473946 CA374947916 |
521 | E>K | No |
ClinGen gnomAD |
|
|
CA374947901 rs1588149295 |
522 | L>M | No |
ClinGen Ensembl |
|
|
CA374947890 rs1206250254 |
523 | I>L | No |
ClinGen gnomAD |
|
|
CA5247481 rs755550771 |
526 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749769768 CA5247480 |
528 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780583830 CA5247479 |
529 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312435928 CA374947747 |
529 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA374947749 rs1312435928 |
529 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1588149264 CA374947721 |
531 | I>F | No |
ClinGen Ensembl |
|
|
rs1023527621 CA199853729 |
531 | I>T | No |
ClinGen TOPMed |
|
|
rs1319164490 CA374947641 |
536 | T>A | No |
ClinGen gnomAD |
|
|
CA5247477 rs750783560 |
536 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751672920 CA5247474 |
538 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA374947589 rs1416553114 |
538 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5247472 rs762901875 |
541 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 544 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247470 rs139005563 |
545 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759396491 CA5247469 |
546 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA199853688 rs964730229 |
552 | A>G | No |
ClinGen TOPMed |
|
|
CA374947343 rs1291900719 |
552 | A>S | No |
ClinGen TOPMed |
|
|
rs1476721745 CA374947168 |
555 | E>D | No |
ClinGen gnomAD |
|
|
CA199853686 rs893611586 |
555 | E>G | No |
ClinGen Ensembl |
|
|
CA199853687 rs1010714502 |
555 | E>K | No |
ClinGen gnomAD |
|
|
CA374947157 rs1376579729 |
556 | A>G | No |
ClinGen gnomAD |
|
|
CA5247441 rs771249314 |
557 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247440 rs530994276 |
557 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA199853685 rs999847409 |
558 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374947124 rs999847409 |
558 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs561975739 CA5247438 |
559 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1199260355 CA374947093 |
560 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs115851622 CA5247437 |
563 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280206442 CA374947000 |
563 | N>S | No |
ClinGen gnomAD |
|
|
rs1280206442 CA374946998 |
563 | N>T | No |
ClinGen gnomAD |
|
|
rs1348822015 CA374946968 |
564 | L>V | No |
ClinGen gnomAD |
|
|
CA199853684 rs1046063862 |
566 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754978264 CA5247435 |
566 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374946912 rs1375847353 |
567 | D>H | No |
ClinGen gnomAD |
|
|
rs1336017958 CA374946841 |
569 | M>T | No |
ClinGen gnomAD |
|
|
CA374946771 rs1401479162 |
571 | M>I | No |
ClinGen gnomAD |
|
|
rs1158616246 CA374946762 |
572 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 573 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247433 rs766314238 |
575 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA199853683 rs947716661 |
575 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1239589624 CA374946611 |
576 | P>S | No |
ClinGen gnomAD |
|
|
rs374596457 CA5247431 |
577 | N>D | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 577 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374946588 rs1588148818 |
577 | N>T | No |
ClinGen Ensembl |
|
|
rs1588148813 CA374946546 |
578 | L>R | No |
ClinGen Ensembl |
|
|
CA374946540 rs1588148802 |
579 | H>P | No |
ClinGen Ensembl |
|
|
CA5247430 rs750226176 |
579 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5247428 rs761497532 |
583 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374946445 rs1277939529 |
584 | G>D | No |
ClinGen TOPMed |
|
|
CA374946460 rs1327190124 |
584 | G>S | No |
ClinGen gnomAD |
|
|
CA5247426 rs768241453 |
585 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1241045536 CA374946412 |
585 | A>V | No |
ClinGen TOPMed |
|
|
rs1357674150 CA374946397 |
586 | P>S | No |
ClinGen gnomAD |
|
|
rs1357674150 CA374946404 |
586 | P>T | No |
ClinGen gnomAD |
|
|
CA374946342 rs560007259 |
588 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs560007259 CA5247424 |
588 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA199853680 rs560007259 |
588 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs148561996 CA5247422 |
589 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5247423 rs141939389 |
589 | W>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772289133 CA5247420 |
590 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5247421 rs778056027 |
590 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5247418 rs778990077 |
591 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778990077 CA199853679 |
591 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374946198 rs1415591703 |
593 | Y>H | No |
ClinGen gnomAD |
|
|
rs545428563 CA199853678 |
594 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201626107 CA5247414 |
597 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214458262 CA374946053 |
597 | G>V | No |
ClinGen gnomAD |
|
|
CA5247412 rs202172377 |
598 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374946049 rs202172377 |
598 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5247410 rs751207485 |
599 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247411 rs751207485 |
599 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247408 rs762438907 |
600 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5247409 rs763807793 |
600 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374945935 rs1441073820 |
602 | P>L | No |
ClinGen gnomAD |
|
|
CA374945896 rs1351231490 |
604 | P>S | No |
ClinGen gnomAD |
|
|
rs377673278 CA5247404 |
605 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5247403 rs761179641 |
605 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772381828 CA5247400 |
606 | T>P | No |
ClinGen ExAC |
|
|
CA5247399 rs144706217 |
607 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144706217 CA5247398 |
607 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369677680 CA374945794 |
608 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374945784 COSM1314469 rs1273088198 |
609 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1221130428 CA374945779 |
610 | A>P | No |
ClinGen gnomAD |
|
|
CA199853675 rs953815241 |
611 | T>A | No |
ClinGen TOPMed |
|
|
rs368668074 CA5247396 |
613 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230414074 CA374945660 |
615 | K>Q | No |
ClinGen gnomAD |
|
|
rs956182494 CA199853674 |
616 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA374945618 rs1296840465 |
616 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374945625 rs1296840465 |
616 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374945606 rs745760357 |
617 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745760357 CA5247393 |
617 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247394 rs756007878 |
617 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1206084 CA5247392 rs574662860 |
618 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs757157689 CA5247391 |
618 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5247389 rs763712715 |
619 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374945513 rs1388655929 |
621 | Q>E | No |
ClinGen TOPMed |
|
|
rs138795717 CA199853672 |
622 | V>L | No |
ClinGen ESP |
|
|
rs138795717 CA199853673 |
622 | V>M | No |
ClinGen ESP |
|
|
CA199853671 rs1004449875 |
624 | S>C | No |
ClinGen TOPMed |
|
|
CA5247387 rs372906105 |
625 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564291808 CA374945322 |
628 | D>E | No |
ClinGen Ensembl |
|
|
rs1423162727 CA374945327 |
628 | D>G | No |
ClinGen gnomAD |
|
|
CA374945316 rs1190754375 |
629 | E>G | No |
ClinGen gnomAD |
|
|
CA5247385 rs193108069 |
631 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374945253 rs1207001494 |
632 | G>W | No |
ClinGen gnomAD |
|
|
CA5247384 rs565794127 |
634 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA199853670 rs565794127 |
634 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 634 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564291771 CA374945138 |
637 | A>T | No |
ClinGen Ensembl |
|
|
rs1045761065 CA199853669 |
638 | S>R | No |
ClinGen TOPMed |
|
|
rs767977239 CA5247383 |
642 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762228282 CA5247382 |
644 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467060235 CA374944890 |
644 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1298540817 CA374944864 |
645 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs552467244 CA5247379 |
647 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374944800 rs769862019 |
648 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374944825 rs1370350299 |
648 | D>N | No |
ClinGen gnomAD |
|
|
rs1175425003 CA374944752 |
651 | T>I | No |
ClinGen gnomAD |
|
|
rs757247618 CA5247374 |
652 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA374944751 rs1401404117 |
652 | E>K | No |
ClinGen gnomAD |
|
|
CA199853668 rs539417380 |
653 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777559244 CA5247372 |
653 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247373 rs539417380 |
653 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5247371 rs149367067 |
654 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5247370 rs752348939 |
654 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754519412 CA5247368 |
655 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254216466 CA374944703 |
655 | G>R | No |
ClinGen gnomAD |
|
|
rs1054963926 CA199853667 |
656 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5247365 rs762246656 |
658 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA199853666 rs1037408206 |
660 | G>C | No |
ClinGen gnomAD |
|
|
rs764477616 CA5247363 |
660 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764477616 CA374944612 |
660 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374739971 CA199853665 |
662 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374739971 CA5247361 |
662 | R>Q | Variant assessed as Somatic; 5.835e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5247362 rs763105834 |
662 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770136344 CA5247360 |
663 | P>L | No |
ClinGen ExAC |
|
|
rs1157115339 CA374944585 |
664 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5247359 rs759747875 |
665 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5247358 rs776796459 |
665 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA374944557 rs1218723902 |
666 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 667 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5247357 rs746906163 |
667 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5247356 rs746906163 |
667 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1165176326 CA374944545 |
667 | P>S | No |
ClinGen gnomAD |
|
|
CA374944523 rs1249721709 |
669 | A>T | No |
ClinGen gnomAD |
|
|
rs1181223185 CA374944511 |
669 | A>V | No |
ClinGen gnomAD |
|
|
rs1313050195 CA374944493 |
670 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs61751870 CA5247354 COSM455364 |
670 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs561939837 CA5247353 |
671 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374944475 rs1328026703 |
672 | L>V | No |
ClinGen gnomAD |
|
|
rs1564291596 CA374944458 |
673 | L>F | No |
ClinGen Ensembl |
|
|
CA374944441 rs1247394971 |
674 | N>D | No |
ClinGen gnomAD |
|
|
rs1320320548 CA374944434 |
674 | N>S | No |
ClinGen gnomAD |
|
|
CA374944402 rs1368040545 |
675 | G>E | No |
ClinGen gnomAD |
|
|
rs753357409 CA5247350 |
675 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 676 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 676 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318594516 CA374944394 |
676 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1318594516 CA374944398 |
676 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1434513278 CA374944380 |
677 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1434513278 CA374944384 |
677 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374944367 rs779474504 |
678 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779474504 CA5247349 |
678 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459197750 CA374944348 |
679 | G>E | No |
ClinGen gnomAD |
|
|
rs986388865 CA199853663 |
680 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1162769547 CA374944332 |
680 | E>G | No |
ClinGen gnomAD |
|
|
CA374944340 rs1366501155 |
680 | E>K | No |
ClinGen gnomAD |
|
|
CA199853662 rs754137868 |
681 | S>I | No |
ClinGen Ensembl |
|
|
rs11545938 CA199853661 |
681 | S>R | No |
ClinGen Ensembl |
|
|
CA199853660 rs914550442 |
682 | P>S | No |
ClinGen Ensembl |
|
|
CA199853659 rs34456155 |
684 | P>L | No |
ClinGen Ensembl |
|
|
CA5247348 rs757794622 |
684 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752056887 CA5247347 |
685 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA374944220 rs1314752944 |
686 | A>T | No |
ClinGen TOPMed |
|
|
CA5247345 rs548335804 |
687 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374944188 rs1211283657 |
687 | A>V | No |
ClinGen gnomAD |
|
|
CA374944183 rs1487337466 |
688 | P>A | No |
ClinGen gnomAD |
|
|
CA5247343 rs765569017 |
689 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1229664414 CA374944155 |
689 | E>V | No |
ClinGen gnomAD |
|
|
CA5247342 rs759764034 |
690 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374944143 rs759764034 |
690 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374944119 rs1227696252 |
691 | S>F | No |
ClinGen gnomAD |
|
|
rs1331767928 CA374944102 |
692 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs368592407 CA5247337 |
693 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773237268 CA5247339 |
693 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247338 rs773237268 |
693 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5247334 rs144973598 |
696 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA199853658 rs757748473 |
697 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs142795970 CA5247333 |
698 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474763898 CA374943957 |
701 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 702 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004425358 CA199853657 |
703 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374943918 rs1431071100 |
704 | G>R | No |
ClinGen gnomAD |
|
|
CA5247329 rs138757858 |
706 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138757858 CA5247328 |
706 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374943867 rs138757858 |
706 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374943854 rs1564291375 |
706 | A>V | No |
ClinGen Ensembl |
|
|
CA5247327 rs753109201 |
708 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5247326 rs765655789 |
710 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248890502 CA374943725 |
711 | P>S | No |
ClinGen gnomAD |
|
|
rs759857601 CA5247325 |
712 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5247321 rs202140368 |
713 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773156678 CA5247320 |
715 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs761592691 CA5247318 |
716 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374943569 rs1410154652 |
717 | Q>R | No |
ClinGen gnomAD |
|
|
rs1352117009 CA374943430 |
720 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1306041877 CA374941907 |
722 | Q>* | No |
ClinGen gnomAD |
|
|
CA374941889 rs1409284439 |
722 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1483703974 CA374941901 |
722 | Q>R | No |
ClinGen gnomAD |
|
|
CA5247317 rs774165481 |
723 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 723 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173786135 CA374941868 |
724 | S>A | No |
ClinGen gnomAD |
|
|
CA5247316 rs768392476 |
724 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1453810853 CA374941845 |
725 | S>G | No |
ClinGen TOPMed |
|
|
CA5247315 rs749061678 |
727 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374941780 rs1182466211 |
728 | S>R | No |
ClinGen gnomAD |
|
|
CA199853653 rs886157167 |
729 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769327730 CA5247313 |
730 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5247311 rs187699931 |
731 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344430685 CA374941701 |
732 | L>R | No |
ClinGen gnomAD |
|
|
rs1268942506 CA374941651 |
734 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1042198755 CA374941631 |
734 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1042198755 CA199853652 |
734 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374941560 rs1276071380 |
737 | E>G | No |
ClinGen TOPMed |
|
|
rs748553061 CA5247309 |
737 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 738 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374941534 rs1441254634 |
738 | D>Y | No |
ClinGen gnomAD |
|
|
rs1588148044 CA374941366 |
742 | V>G | No |
ClinGen Ensembl |
|
|
CA5247308 rs779538130 |
742 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779538130 CA374941381 |
742 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755431231 CA5247307 |
743 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA374941286 rs1393731348 |
745 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1293211239 CA374941280 |
745 | E>D | No |
ClinGen TOPMed |
|
|
CA374941301 rs1393731348 |
745 | E>V | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q96TA1
1 regional properties for Q96TA1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pleckstrin homology domain | 68 - 192 | IPR001849 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| gonadotropin secretion | The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. |
| hypomethylation of CpG island | An decrease in the epigenetic methylation of cytosine and adenosine residues in a CpG island in DNA. CpG islands are genomic regions that contain a high frequency of the CG dinucleotide and are often associated with the transcription start site of genes. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of DNA biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of DNA biosynthetic process. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of Notch signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway. |
| negative regulation of vascular endothelial growth factor receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of embryonic development | Any process that activates or increases the frequency, rate or extent of embryonic development. |
| positive regulation of skeletal muscle fiber development | Any process that activates, maintains or increases the rate of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. |
| positive regulation of transcription regulatory region DNA binding | Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3UW53 | Niban1 | Protein Niban 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDVLSTHLD | DARRQHIAEK | TGKILTEFLQ | FYEDQYGVAL | FNSMRHEIEG | TGLPQAQLLW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKVPLDERIV | FSGNLFQHQE | DSKKWRNRFS | LVPHNYGLVL | YENKAAYERQ | VPPRAVINSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYKILTSVDQ | YLELIGNSLP | GTTAKSGSAP | ILKCPTQFPL | ILWHPYARHY | YFCMMTEAEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DKWQAVLQDC | IRHCNNGIPE | DSKVEGPAFT | DAIRMYRQSK | ELYGTWEMLC | GNEVQILSNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VMEELGPELK | AELGPRLKGK | PQERQRQWIQ | ISDAVYHMVY | EQAKARFEEV | LSKVQQVQPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MQAVIRTDMD | QIITSKEHLA | SKIRAFILPK | AEVCVRNHVQ | PYIPSILEAL | MVPTSQGFTE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VRDVFFKEVT | DMNLNVINEG | GIDKLGEYME | KLSRLAYHPL | KMQSCYEKME | SLRLDGLQQR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FDVSSTSVFK | QRAQIHMREQ | MDNAVYTFET | LLHQELGKGP | TKEELCKSIQ | RVLERVLKKY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DYDSSSVRKR | FFREALLQIS | IPFLLKKLAP | TCKSELPRFQ | ELIFEDFARF | ILVENTYEEV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLQTVMKDIL | QAVKEAAVQR | KHNLYRDSMV | MHNSDPNLHL | LAEGAPIDWG | EEYSNSGGGG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SPSPSTPESA | TLSEKRRRAK | QVVSVVQDEE | VGLPFEASPE | SPPPASPDGV | TEIRGLLAQG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LRPESPPPAG | PLLNGAPAGE | SPQPKAAPEA | SSPPASPLQH | LLPGKAVDLG | PPKPSDQETG |
| 730 | 740 | ||||
| EQVSSPSSHP | ALHTTTEDSA | GVQTEF |