O15438
Gene name |
ABCC3 |
Protein name |
ATP-binding cassette sub-family C member 3 |
Names |
Canalicular multispecific organic anion transporter 2, Multi-specific organic anion transporter D, MOAT-D, Multidrug resistance-associated protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8714 |
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

4 structures for O15438
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
8HVH | EM | 307 A | A | 1-1527 | PDB |
8HW2 | EM | 365 A | A | 1-1527 | PDB |
8HW4 | EM | 352 A | A | 1-1527 | PDB |
AF-O15438-F1 | Predicted | AlphaFoldDB |
1376 variants for O15438
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA291590694 rs953463596 |
2 | D>N | No |
ClinGen Ensembl |
|
CA400244221 rs1293320066 |
5 | C>* | No |
ClinGen gnomAD |
|
rs1441869617 CA400244217 |
5 | C>Y | No |
ClinGen TOPMed |
|
rs1230805510 CA400244242 |
6 | G>D | No |
ClinGen TOPMed |
|
CA8653891 rs745529143 |
6 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197849136 CA400244270 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1271110305 CA400244283 |
8 | G>V | No |
ClinGen gnomAD |
|
rs1197849136 CA400244277 |
8 | G>W | No |
ClinGen TOPMed gnomAD |
|
rs1296680980 CA400244302 |
9 | E>V | No |
ClinGen TOPMed |
|
CA291590707 rs964320698 |
10 | L>I | No |
ClinGen TOPMed |
|
CA8653892 VAR_029119 rs11568609 |
11 | G>D | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1278424829 CA400244328 |
11 | G>R | No |
ClinGen gnomAD |
|
CA400244370 rs1188774167 |
12 | S>F | No |
ClinGen gnomAD |
|
CA8653893 rs201886646 CA400244386 |
13 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746963392 CA8653894 CA400244424 |
15 | W>C | No |
ClinGen ExAC gnomAD |
|
CA291590739 rs867496964 |
15 | W>L | No |
ClinGen Ensembl |
|
CA291602730 rs149367152 |
18 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA400250799 rs1302846619 |
20 | S>F | No |
ClinGen Ensembl |
|
rs147484871 CA8653937 |
21 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147484871 CA8653938 |
21 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs908336862 CA291602735 |
21 | V>M | No |
ClinGen Ensembl |
|
CA8653939 rs746023660 |
23 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775874639 CA8653941 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1205055267 CA400250872 |
26 | P>T | No |
ClinGen TOPMed |
|
rs763434974 CA291602775 |
27 | D>G | No |
ClinGen gnomAD |
|
CA8653943 rs769243628 |
27 | D>N | No |
ClinGen ExAC gnomAD |
|
CA8653945 rs762606673 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
CA8653946 rs765978466 |
29 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759174103 CA8653948 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
rs751264707 CA8653947 |
30 | P>T | No |
ClinGen ExAC gnomAD |
|
CA400250944 rs1330041743 |
31 | C>Y | No |
ClinGen gnomAD |
|
CA8653949 rs767240602 |
34 | N>D | No |
ClinGen ExAC gnomAD |
|
rs866383362 CA291602788 |
34 | N>S | No |
ClinGen Ensembl |
|
CA400251000 rs866383362 |
34 | N>T | No |
ClinGen Ensembl |
|
rs1280738354 CA400251020 |
35 | S>F | No |
ClinGen gnomAD |
|
rs1348586251 CA400251024 |
36 | L>V | No |
ClinGen gnomAD |
|
CA400251098 rs1336670434 |
41 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1313866090 CA400251107 |
42 | C>G | No |
ClinGen TOPMed |
|
TCGA novel | 42 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1208331778 CA400251117 |
43 | I>T | No |
ClinGen gnomAD |
|
rs755835594 CA8653952 |
44 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA400251177 rs1206754143 |
47 | V>F | No |
ClinGen gnomAD |
|
CA8653956 rs757334041 |
48 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757334041 CA8653955 |
48 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA400251220 rs1471995922 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA8653959 rs780105010 |
51 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA8653960 rs371251448 |
54 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
CA400251296 rs1597846099 |
55 | Y>S | No |
ClinGen Ensembl |
|
rs768886195 CA8653961 |
56 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8653962 rs768886195 |
56 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 57 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8653965 rs553304862 |
57 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200070901 CA8653963 |
57 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs759146021 CA8653966 |
58 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 59 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745495349 CA291602863 |
59 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA8653967 rs767241920 |
60 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs774985556 CA8653968 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760576754 CA8653969 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8653970 rs760576754 |
61 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8653971 rs753786386 |
62 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8653972 rs757136597 |
63 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1480253648 CA400251481 |
65 | I>S | No |
ClinGen TOPMed |
|
CA8653975 rs758383044 |
68 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs34926034 RCV000954511 CA8653974 |
68 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA400251547 rs1187322101 |
69 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs148804178 CA8653976 |
69 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400251564 rs1320364272 |
70 | S>C | No |
ClinGen TOPMed |
|
CA291602911 rs947261958 |
70 | S>P | No |
ClinGen TOPMed |
|
CA400251589 rs370960744 |
71 | K>N | No |
ClinGen gnomAD |
|
rs747189052 CA8653977 |
72 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1049695167 CA291602924 |
73 | K>R | No |
ClinGen TOPMed |
|
CA8653978 CA400251645 rs755394565 |
74 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1170079118 CA400251631 |
74 | M>K | No |
ClinGen TOPMed gnomAD |
|
CA400251634 rs1170079118 |
74 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs142468792 CA8654003 |
77 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
rs142468792 CA8654002 |
77 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
rs776243043 CA8654005 |
78 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8654004 rs768335194 |
78 | V>I | No |
ClinGen ExAC gnomAD |
|
CA400251886 rs1353411440 |
80 | L>M | No |
ClinGen gnomAD |
|
rs773202101 CA8654008 |
83 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8654007 rs769569355 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654009 rs762737220 |
85 | W>R | No |
ClinGen ExAC gnomAD |
|
CA8654013 rs151133677 |
86 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375256776 CA8654010 |
86 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654011 rs375256776 |
86 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375256776 CA400251954 |
86 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs151133677 CA8654012 |
86 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs756614184 CA8654015 |
87 | D>E | No |
ClinGen ExAC gnomAD |
|
rs777933376 CA8654016 |
90 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754390880 CA8654017 |
91 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA8654019 rs757664905 |
93 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1408964042 CA400252078 |
95 | L>M | No |
ClinGen TOPMed |
|
CA8654021 rs746570040 |
96 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400252092 rs1386308464 |
96 | V>L | No |
ClinGen gnomAD |
|
CA8654022 rs768138706 |
97 | H>R | No |
ClinGen ExAC gnomAD |
|
rs201309163 CA8654024 |
99 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654026 rs35777968 |
99 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8654025 RCV000947839 rs35777968 |
99 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8654023 rs201309163 |
99 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs868620611 CA291603506 |
100 | A>D | No |
ClinGen Ensembl |
|
rs762984202 CA8654027 |
100 | A>S | No |
ClinGen ExAC gnomAD |
|
rs922105178 CA291603509 |
101 | P>S | No |
ClinGen gnomAD |
|
CA400252167 rs371734426 |
102 | A>D | No |
ClinGen ESP ExAC TOPMed |
|
CA400252165 rs371734426 |
102 | A>G | No |
ClinGen ESP ExAC TOPMed |
|
CA8654029 rs144017154 |
102 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654031 rs371734426 |
102 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
CA291603530 rs199587942 |
103 | P>S | No |
ClinGen Ensembl |
|
rs776132587 CA291603531 |
104 | V>L | No |
ClinGen Ensembl |
|
rs1376253969 CA400252225 |
107 | V>F | No |
ClinGen gnomAD |
|
CA291603535 rs933386161 |
107 | V>G | No |
ClinGen Ensembl |
|
CA291603539 rs1051802491 |
108 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA8654034 rs767703258 |
108 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 109 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654035 rs752973291 |
111 | V>L | No |
ClinGen ExAC gnomAD |
|
CA400252296 rs1567828598 |
112 | V>G | No |
ClinGen Ensembl |
|
rs760922676 CA8654038 |
113 | G>R | No |
ClinGen ExAC gnomAD |
|
CA8654037 rs760922676 |
113 | G>W | No |
ClinGen ExAC gnomAD |
|
rs1475394607 CA400252306 |
114 | V>F | No |
ClinGen gnomAD |
|
CA8654039 rs754195007 |
115 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1268318859 CA400252344 |
116 | M>I | No |
ClinGen Ensembl |
|
rs1274468152 CA400252338 |
116 | M>T | No |
ClinGen TOPMed |
|
TCGA novel | 117 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654064 rs755630531 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
rs566927827 CA8654065 |
119 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400252437 rs1597847185 |
120 | T>P | No |
ClinGen Ensembl |
|
CA400252457 rs1597847193 |
121 | L>P | No |
ClinGen Ensembl |
|
CA8654068 rs757009285 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
CA400252478 rs1456200223 |
123 | I>T | No |
ClinGen TOPMed |
|
rs980511542 CA291603802 |
123 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1174568211 CA400252485 |
124 | Q>* | No |
ClinGen gnomAD |
|
rs772176022 CA8654071 |
127 | R>P | No |
ClinGen ExAC gnomAD |
|
CA8654072 rs772176022 |
127 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8654070 rs745823884 |
127 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654074 rs768775552 |
130 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366925245 CA400252562 |
130 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1597847238 CA400252585 |
131 | V>G | No |
ClinGen Ensembl |
|
CA8654077 rs765604237 |
131 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654078 rs201830141 |
132 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 132 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654079 rs763277467 |
132 | Q>R | No |
ClinGen ExAC |
|
rs752095627 CA8654081 |
133 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8654080 rs766924418 |
133 | S>P | No |
ClinGen ExAC gnomAD |
|
CA8654082 rs755649633 |
134 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753448175 CA8654084 |
135 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1597847272 CA400252631 |
136 | V>G | No |
ClinGen Ensembl |
|
rs1439902734 CA400252627 |
136 | V>I | No |
ClinGen gnomAD |
|
rs1479030549 CA400252636 |
137 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs778676586 CA8654086 |
138 | I>V | No |
ClinGen ExAC |
|
CA400252664 rs1209945932 |
141 | W>* | No |
ClinGen TOPMed |
|
CA400252661 rs1425107622 |
141 | W>G | No |
ClinGen gnomAD |
|
CA400252663 rs745705296 |
141 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8654087 rs745705296 |
141 | W>S | No |
ClinGen ExAC gnomAD |
|
CA400252668 rs1171592294 |
142 | F>L | No |
ClinGen gnomAD |
|
rs1567828794 CA400252678 RCV000714774 |
143 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
CA8654089 rs34924566 |
145 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8654088 rs758254910 |
145 | V>M | No |
ClinGen ExAC gnomAD |
|
CA400252696 rs1319439606 |
146 | V>A | No |
ClinGen gnomAD |
|
rs748346809 CA400252709 |
148 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781282162 CA8654092 |
148 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA8654093 rs748346809 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400252720 rs1290040324 |
150 | V>A | No |
ClinGen gnomAD |
|
rs770045921 CA8654094 |
150 | V>I | No |
ClinGen ExAC gnomAD |
|
CA8654095 rs578228776 |
153 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs140992360 CA8654096 |
153 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400252761 rs1453491308 |
157 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1246144041 CA400252783 |
160 | K>T | No |
ClinGen gnomAD |
|
CA400252790 rs1456475635 |
161 | A>T | No |
ClinGen TOPMed |
|
CA400252798 rs1386390050 |
162 | E>G | No |
ClinGen TOPMed |
|
rs562961331 CA8654120 |
163 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400253089 rs1390681572 |
163 | G>R | No |
ClinGen gnomAD |
|
CA8654121 rs562961331 |
163 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1221531223 CA400253105 |
164 | E>A | No |
ClinGen TOPMed |
|
CA400253138 rs750111001 |
166 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654122 rs750111001 |
166 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400253149 rs1597847790 |
167 | D>A | No |
ClinGen Ensembl |
|
CA8654123 rs762641547 |
170 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200670648 CA8654125 |
170 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA8654124 rs762641547 |
170 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400253203 rs1388719342 |
171 | F>L | No |
ClinGen TOPMed |
|
rs1283796897 CA400253210 |
171 | F>S | No |
ClinGen gnomAD |
|
CA291606576 rs144810298 |
172 | T>P | No |
ClinGen ESP |
|
CA291606577 rs922614527 |
173 | T>N | No |
ClinGen TOPMed |
|
CA400253280 rs1220727416 |
176 | I>S | No |
ClinGen gnomAD |
|
rs1272488727 CA400253313 |
178 | F>L | No |
ClinGen gnomAD |
|
rs1292755800 CA400253317 |
179 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs751408486 CA8654127 |
180 | L>R | No |
ClinGen ExAC gnomAD |
|
rs201443043 CA291606581 |
180 | L>V | No |
ClinGen gnomAD |
|
rs202041010 CA291606584 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1185021292 CA400253357 |
182 | L>P | No |
ClinGen gnomAD |
|
rs202041010 CA8654129 |
182 | L>V | No |
ClinGen ExAC gnomAD |
|
CA400253382 rs531842152 |
184 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs531842152 CA8654130 |
184 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 186 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1387723781 CA400253421 |
188 | A>T | No |
ClinGen gnomAD |
|
CA400253470 rs1461480690 |
191 | R>K | No |
ClinGen gnomAD |
|
CA400253463 rs1159732329 |
191 | R>W | No |
ClinGen TOPMed |
|
rs749534386 CA8654133 |
194 | P>R | No |
ClinGen ExAC |
|
CA8654132 rs777774507 |
194 | P>S | No |
ClinGen ExAC gnomAD |
|
CA400253562 rs1456315494 |
197 | F>L | No |
ClinGen TOPMed |
|
rs375273144 CA8654136 |
199 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375273144 CA8654135 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs772318176 CA8654137 |
202 | V>I | No |
ClinGen ExAC gnomAD |
|
CA400253648 rs1295565392 |
203 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs376037553 CA8654139 COSM3795797 COSM3795796 |
203 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
rs775225857 CA8654164 |
205 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400253733 rs1597848102 |
205 | N>T | No |
ClinGen Ensembl |
|
rs760433093 CA8654165 |
207 | Y>N | No |
ClinGen ExAC gnomAD |
|
CA400253761 rs1597848130 |
207 | Y>S | No |
ClinGen Ensembl |
|
CA8654166 rs764069245 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1458541706 CA400253794 |
210 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA8654167 rs753769868 |
210 | T>S | No |
ClinGen ExAC gnomAD |
|
rs145577303 CA8654170 |
212 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145577303 CA8654169 |
212 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654171 rs758505565 |
213 | G>S | No |
ClinGen ExAC gnomAD |
|
COSM1563769 CA8654172 rs780387687 COSM1563770 |
217 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs752016818 CA8654174 |
217 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752016818 CA8654173 |
217 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781782461 CA8654175 |
218 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1245056326 CA400253951 |
221 | W>* | No |
ClinGen gnomAD |
|
rs1567829338 CA400253987 |
223 | F>Y | No |
ClinGen Ensembl |
|
CA8654178 rs565265611 |
224 | T>R | No |
ClinGen ExAC gnomAD |
|
rs1356598216 CA400254010 |
225 | K>E | No |
ClinGen gnomAD |
|
rs1469029275 CA400254146 |
226 | M>I | No |
ClinGen gnomAD |
|
rs764568095 CA8654217 |
226 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1296126722 CA400254143 |
226 | M>T | No |
ClinGen TOPMed |
|
CA8654216 rs764568095 |
226 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1425562814 CA400254154 |
227 | A>G | No |
ClinGen gnomAD |
|
CA400254166 rs1597848697 |
229 | Y>C | No |
ClinGen Ensembl |
|
rs757915424 CA8654218 |
230 | G>A | No |
ClinGen ExAC gnomAD |
|
rs779490464 CA8654219 |
231 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs148287642 CA8654221 |
232 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654222 rs148287642 |
232 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143608762 CA8654220 |
232 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747948223 CA291606954 |
234 | P>A | No |
ClinGen ExAC gnomAD |
|
rs747948223 CA8654223 |
234 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8654225 rs769623999 |
236 | E>* | No |
ClinGen ExAC gnomAD |
|
rs371378724 CA291606959 |
237 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs751858011 | 237 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654227 rs749183562 |
239 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA400254232 rs1434921844 |
240 | L>F | No |
ClinGen TOPMed |
|
CA400254242 rs1270270533 |
241 | W>* | No |
ClinGen gnomAD |
|
rs1300760568 CA400254240 |
241 | W>L | No |
ClinGen Ensembl |
|
CA291606965 rs755311520 |
243 | L>P | No |
ClinGen Ensembl |
|
rs774536672 CA8654229 |
248 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1329245843 CA400254290 |
248 | R>I | No |
ClinGen TOPMed |
|
rs1329245843 CA400254288 |
248 | R>K | No |
ClinGen TOPMed |
|
rs759656958 CA8654230 |
249 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197886349 CA400254305 |
250 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 251 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1429073455 CA400254310 |
251 | M>T | No |
ClinGen gnomAD |
|
CA8654231 rs767682032 |
253 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567829730 CA400254332 |
254 | Q>H | No |
ClinGen Ensembl |
|
CA8654233 rs761014245 |
255 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs764459191 CA8654234 |
256 | L>P | No |
ClinGen ExAC gnomAD |
|
CA8654237 rs58534606 |
258 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs565723806 CA8654238 |
259 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs754467996 CA8654239 |
259 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400254368 rs1289908544 |
260 | W>C | No |
ClinGen TOPMed gnomAD |
|
rs1348823428 CA400254374 |
261 | R>M | No |
ClinGen gnomAD |
|
rs1208474067 CA400254381 |
262 | K>R | No |
ClinGen TOPMed |
|
rs534717187 CA8654241 |
265 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 265 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654242 rs755878262 |
267 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
rs771035907 CA400254427 |
269 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654245 rs771035907 |
269 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774409596 CA8654246 |
269 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1237729954 CA400254795 |
270 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA400254798 rs1446007533 |
271 | K>E | No |
ClinGen gnomAD |
|
CA291607432 rs368174277 |
272 | A>S | No |
ClinGen ESP |
|
CA400254814 rs368174277 |
272 | A>T | No |
ClinGen ESP |
|
CA400254834 rs1181226644 |
273 | S>* | No |
ClinGen gnomAD |
|
TCGA novel | 274 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400254864 rs1384058021 |
276 | P>A | No |
ClinGen gnomAD |
|
rs1450079323 CA400254891 |
278 | K>* | No |
ClinGen gnomAD |
|
CA400254889 rs1450079323 |
278 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 279 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654262 rs753736110 |
282 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654266 rs772064905 |
285 | E>G | No |
ClinGen ExAC gnomAD |
|
rs143968667 CA8654265 |
285 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA291607452 rs1031159451 |
286 | V>M | No |
ClinGen TOPMed |
|
rs1268960178 CA400255057 |
290 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs951518192 CA291607460 |
290 | A>T | No |
ClinGen gnomAD |
|
rs1268960178 CA400255055 |
290 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8654270 rs768971754 |
291 | R>P | No |
ClinGen ExAC gnomAD |
|
CA8654269 rs768971754 |
291 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs201562834 CA8654268 |
291 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400255074 rs1462424964 |
292 | P>H | No |
ClinGen gnomAD |
|
CA8654271 rs762228255 |
293 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1597849674 CA400255085 |
293 | R>T | No |
ClinGen Ensembl |
|
CA400255090 rs1242034050 |
294 | P>T | No |
ClinGen gnomAD |
|
CA400255100 rs770073679 |
295 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400255104 rs1194635875 |
295 | R>Q | No |
ClinGen gnomAD |
|
rs770073679 CA8654272 |
295 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1371298810 CA400255110 |
296 | K>E | No |
ClinGen gnomAD |
|
rs1173003953 CA400255117 |
297 | P>A | No |
ClinGen gnomAD |
|
rs1023011159 CA291607480 |
297 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1341747464 CA400255125 |
298 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA8654273 rs773720262 |
298 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400255132 rs1452654654 |
299 | F>L | No |
ClinGen gnomAD |
|
rs1384023538 CA400255151 |
302 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1475448208 CA400255165 |
305 | A>D | No |
ClinGen TOPMed |
|
rs763471654 CA8654274 |
305 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1475448208 CA400255167 |
305 | A>V | No |
ClinGen TOPMed |
|
rs1597849721 CA400255168 |
306 | T>P | No |
ClinGen Ensembl |
|
CA8654279 rs372683132 |
308 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372683132 CA8654278 |
308 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400255189 rs757124918 |
309 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291607495 rs757124918 |
309 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654280 rs757124918 |
309 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778795228 CA8654281 |
310 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1597849735 CA400255193 |
310 | S>N | No |
ClinGen Ensembl |
|
CA400255207 rs1465037307 |
312 | L>F | No |
ClinGen gnomAD |
|
CA8654282 rs750415588 |
313 | I>M | No |
ClinGen ExAC gnomAD |
|
CA400255215 rs1206392578 |
313 | I>T | No |
ClinGen gnomAD |
|
CA8654283 rs45617731 |
314 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA291607503 rs45617731 |
314 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8654284 rs779829965 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
rs577146059 CA8654285 |
318 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1270840888 CA400255248 |
318 | K>R | No |
ClinGen gnomAD |
|
rs768614321 CA8654286 |
319 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1277109132 CA400255262 |
320 | I>M | No |
ClinGen TOPMed |
|
TCGA novel | 321 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654289 rs770169344 |
325 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654291 rs200779271 |
327 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773528140 CA8654290 |
327 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400255312 rs771517700 |
328 | N>I | No |
ClinGen ExAC gnomAD |
|
CA8654292 rs771517700 |
328 | N>S | No |
ClinGen ExAC gnomAD |
|
CA291607515 rs749942780 |
329 | P>S | No |
ClinGen Ensembl |
|
rs774711794 CA8654293 |
330 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400255527 rs1224975044 |
334 | I>V | No |
ClinGen gnomAD |
|
CA400255573 rs1250494293 |
337 | R>S | No |
ClinGen gnomAD |
|
rs1249927411 CA400255600 |
339 | I>T | No |
ClinGen TOPMed |
|
rs1026930610 CA291608560 |
342 | P>S | No |
ClinGen Ensembl |
|
rs767412758 CA8654322 |
343 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369052934 CA8654323 |
345 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756174056 CA8654324 |
346 | S>A | No |
ClinGen ExAC gnomAD |
|
CA8654326 rs11568605 |
346 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_020235 CA8654325 rs11568605 |
346 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148400455 CA8654328 |
349 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1307952658 CA400255791 |
350 | F>S | No |
ClinGen TOPMed |
|
CA8654329 rs746209818 |
351 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA400255801 rs1378575115 |
351 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1597851389 CA400255811 |
352 | V>M | No |
ClinGen Ensembl |
|
CA400255831 rs763074343 |
353 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs763074343 CA400255826 COSM189483 |
353 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs146447918 CA8654330 |
356 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8654331 rs200304810 |
357 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs558597536 CA8654334 |
360 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400255969 rs1161198942 |
361 | M>R | No |
ClinGen TOPMed |
|
rs1323963107 CA400255990 |
362 | M>T | No |
ClinGen gnomAD |
|
CA400256417 rs762463467 |
364 | S>* | No |
ClinGen ExAC gnomAD |
|
CA8654335 rs762463467 |
364 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1216603053 CA400256428 |
366 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs768665751 CA291608596 |
367 | L>* | No |
ClinGen gnomAD |
|
CA8654339 rs767502496 |
369 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA8654338 rs759306578 |
369 | H>R | No |
ClinGen ExAC gnomAD |
|
rs752627381 CA8654340 |
370 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291608603 rs760752062 |
372 | H>P | No |
ClinGen ExAC gnomAD |
|
CA8654341 rs760752062 |
372 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1324853065 CA400256484 |
374 | I>S | No |
ClinGen gnomAD |
|
rs1468913250 CA400256511 |
378 | G>A | No |
ClinGen gnomAD |
|
rs151185563 CA8654344 CA400256514 |
379 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654345 rs569540221 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376917479 CA8654346 |
382 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs376917479 CA291608609 |
382 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654347 rs758828229 |
383 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1406547841 CA400256596 |
385 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1224533863 CA400256619 |
386 | M>I | No |
ClinGen gnomAD |
|
rs140303181 CA8654349 |
386 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140303181 CA8654350 |
386 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1281074823 CA400256603 |
386 | M>V | No |
ClinGen gnomAD |
|
TCGA novel | 388 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400256717 rs1238614667 |
392 | K>N | No |
ClinGen TOPMed |
|
CA8654367 rs755475860 |
395 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755475860 CA400256798 |
395 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400256832 rs1234260389 |
398 | N>S | No |
ClinGen gnomAD |
|
TCGA novel | 399 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400256842 rs1169825430 |
399 | S>P | No |
ClinGen gnomAD |
|
CA400256853 rs1468229546 |
400 | V>I | No |
ClinGen gnomAD |
|
CA400256885 rs1177525794 |
402 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs562997311 CA291608699 |
402 | R>H | No |
ClinGen 1000Genomes TOPMed |
|
CA8654369 rs781710394 |
403 | A>E | No |
ClinGen ExAC gnomAD |
|
rs781710394 CA8654368 |
403 | A>G | No |
ClinGen ExAC gnomAD |
|
rs140132843 CA8654371 |
406 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs34346931 CA8654375 |
408 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746778467 CA8654376 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1385045532 CA400256999 |
410 | V>F | No |
ClinGen gnomAD |
|
rs768530696 CA8654377 |
411 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654378 rs374399145 |
412 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
CA291608749 rs141526604 |
413 | M>I | No |
ClinGen ESP gnomAD |
|
CA400257044 rs1346488015 |
413 | M>R | No |
ClinGen gnomAD |
|
rs765299998 CA8654380 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1027673139 CA291608763 |
418 | Q>E | No |
ClinGen Ensembl |
|
TCGA novel | 418 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1197580898 CA400257130 |
419 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8654382 rs142924921 |
419 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400257133 rs142924921 |
419 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs990758396 CA291608766 |
421 | M>T | No |
ClinGen Ensembl |
|
rs1429035786 CA400257185 |
423 | L>I | No |
ClinGen TOPMed |
|
rs1462288357 CA400257203 |
424 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1462288357 CA400257207 |
424 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs368354847 CA8654388 |
428 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400257280 rs1465338261 |
430 | L>M | No |
ClinGen gnomAD |
|
rs1244988151 CA400257304 |
431 | W>* | No |
ClinGen TOPMed |
|
rs1408522194 CA400257293 |
431 | W>R | No |
ClinGen gnomAD |
|
CA400257308 rs1204580810 |
432 | S>T | No |
ClinGen TOPMed |
|
CA8654390 rs745554437 |
435 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654391 rs745554437 |
435 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654392 rs151079073 |
436 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1597851697 CA400257389 |
438 | I>T | No |
ClinGen Ensembl |
|
CA400257382 rs1327585394 |
438 | I>V | No |
ClinGen gnomAD |
|
rs201203647 CA8654394 |
440 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM3672504 rs201203647 CA8654393 COSM3672503 |
440 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1339111305 CA400257430 |
441 | I>M | No |
ClinGen gnomAD |
|
rs748069644 CA8654396 |
442 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1236835901 CA400257447 |
443 | F>I | No |
ClinGen Ensembl |
|
CA400257641 rs1364071426 |
448 | L>Q | No |
ClinGen gnomAD |
|
rs1597852151 CA400257638 |
448 | L>V | No |
ClinGen Ensembl |
|
CA8654423 rs764648381 |
450 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 450 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1384769979 CA400257665 |
450 | P>S | No |
ClinGen gnomAD |
|
rs1384769979 CA400257662 |
450 | P>T | No |
ClinGen gnomAD |
|
rs1335911096 CA400257681 |
451 | S>C | No |
ClinGen gnomAD |
|
CA400257701 rs1567832002 |
453 | L>R | No |
ClinGen Ensembl |
|
CA291609297 rs928652343 |
456 | V>I | No |
ClinGen Ensembl |
|
rs374279400 CA8654425 |
457 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs765822884 CA8654426 |
458 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1319963880 CA400257770 |
459 | M>T | No |
ClinGen gnomAD |
|
CA400257765 rs1293730103 |
459 | M>V | No |
ClinGen gnomAD |
|
rs751200868 CA8654427 |
460 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751200868 CA8654428 |
460 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 461 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs148338630 CA8654429 |
463 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1597852207 CA400257832 |
464 | P>R | No |
ClinGen Ensembl |
|
CA8654430 rs752594239 |
464 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654431 rs752594239 |
464 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654435 rs779015256 COSM1324969 COSM1324968 |
467 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA400257889 rs1353810125 |
467 | G>V | No |
ClinGen TOPMed |
|
rs745908923 CA8654436 |
469 | V>G | No |
ClinGen ExAC gnomAD |
|
CA291609360 rs946635547 |
471 | V>A | No |
ClinGen Ensembl |
|
CA291609357 rs892358122 |
471 | V>L | No |
ClinGen gnomAD |
|
CA400257952 rs892358122 |
471 | V>M | No |
ClinGen gnomAD |
|
CA8654438 rs775564715 |
473 | M>V | No |
ClinGen ExAC gnomAD |
|
rs761029730 CA8654440 |
474 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761029730 CA8654439 |
474 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200555604 CA8654441 |
474 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8654443 COSM1384359 COSM1384358 rs543738423 |
475 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA8654444 rs751130466 |
477 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1161295311 CA400258606 |
478 | V>L | No |
ClinGen TOPMed |
|
CA400258661 rs1257704204 |
481 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA8654460 rs775180789 |
486 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1384361 COSM1384360 rs577213087 CA8654462 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs773586596 CA400258749 |
487 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8654463 rs773586596 |
487 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775305792 CA8654466 |
488 | I>M | No |
ClinGen ExAC gnomAD |
|
rs766880630 CA8654465 |
488 | I>T | No |
ClinGen ExAC gnomAD |
|
rs141547175 CA8654464 |
488 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
rs894252965 CA291612104 |
489 | K>* | No |
ClinGen TOPMed gnomAD |
|
CA400258773 rs1193310479 |
489 | K>R | No |
ClinGen gnomAD |
|
rs753738186 CA8654469 |
492 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1316079870 CA400258838 |
493 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA400258845 rs1356904471 |
494 | I>V | No |
ClinGen gnomAD |
|
CA400258862 rs1363943313 |
495 | L>P | No |
ClinGen gnomAD |
|
CA8654471 rs763632009 |
495 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400258890 rs1239224975 |
497 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs758522517 CA291612141 |
497 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654473 rs758522517 |
497 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779954762 CA8654474 |
498 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291612155 rs200119778 |
505 | A>T | No |
ClinGen 1000Genomes |
|
TCGA novel | 507 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654477 rs781377638 |
513 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs373375235 CA8654476 |
513 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654479 rs769985556 |
514 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8654478 rs748579053 |
514 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8654481 rs143084758 |
515 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA400259163 rs1344510651 |
515 | E>V | No |
ClinGen TOPMed |
|
rs775184285 CA8654483 |
516 | G>D | No |
ClinGen ExAC gnomAD |
|
rs145930090 CA8654482 |
516 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400259207 rs11568601 |
518 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400259220 rs1417780897 |
519 | Q>K | No |
ClinGen gnomAD |
|
CA400259250 rs1297397783 |
520 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA400259284 rs763902431 |
522 | L>F | No |
ClinGen ExAC gnomAD |
|
rs763902431 CA8654485 |
522 | L>I | No |
ClinGen ExAC gnomAD |
|
rs180746726 CA8654487 |
526 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs764888307 CA400259350 |
526 | R>H | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs764888307 CA8654488 |
526 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8654489 rs1003354 |
527 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8654490 rs1003354 |
527 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA291612225 rs1003354 |
527 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1003355 CA291612244 |
528 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
rs751694753 CA8654492 |
528 | A>T | No |
ClinGen ExAC gnomAD |
|
CA291612257 rs1003355 |
528 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs143222962 CA8654493 |
529 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400259395 rs1233923765 |
529 | A>V | No |
ClinGen TOPMed |
|
rs781396307 CA8654494 |
531 | L>F | No |
ClinGen ExAC gnomAD |
|
CA400259407 rs377705465 |
531 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654495 rs377705465 |
531 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs976097306 CA291612275 |
534 | T>I | No |
ClinGen TOPMed |
|
rs756524566 CA8654497 |
535 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756524566 CA291612283 |
535 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400259432 rs1157995617 |
536 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA400259445 rs1385738017 |
538 | T>P | No |
ClinGen gnomAD |
|
CA400259459 rs1268350369 |
539 | W>C | No |
ClinGen TOPMed |
|
CA8654498 rs777961746 |
540 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1426319363 CA400259464 |
540 | M>T | No |
ClinGen gnomAD |
|
CA400259483 rs749635299 |
542 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1597853501 CA400259476 |
542 | S>R | No |
ClinGen Ensembl |
|
CA8654500 rs371269343 |
543 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371269343 CA8654501 |
543 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400259683 rs1355979186 |
546 | V>M | No |
ClinGen TOPMed |
|
VAR_084161 rs144520783 CA8654527 |
548 | L>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8654528 rs570998080 |
550 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1300584829 CA400260048 |
551 | L>P | No |
ClinGen gnomAD |
|
rs762659563 CA8654529 |
551 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1374828821 CA400260066 |
552 | W>C | No |
ClinGen TOPMed |
|
CA291612411 rs915550671 |
554 | Y>F | No |
ClinGen TOPMed gnomAD |
|
CA8654530 rs770654016 |
554 | Y>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 555 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400260095 rs759429326 |
555 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654532 rs759429326 |
555 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400260103 rs1404414080 |
556 | Y>N | No |
ClinGen gnomAD |
|
rs200008481 CA291612439 |
557 | V>M | No |
ClinGen TOPMed gnomAD |
|
COSM3362217 rs1456882132 CA400260143 |
559 | P>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8654536 rs764292157 |
561 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 564 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400260209 rs1276682869 |
564 | D>V | No |
ClinGen gnomAD |
|
rs757713402 CA8654538 |
565 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs200871228 CA8654540 |
566 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400260222 rs1346536152 |
566 | E>K | No |
ClinGen gnomAD |
|
CA8654541 rs759020211 |
568 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1447456405 CA400260262 |
569 | F>V | No |
ClinGen gnomAD |
|
rs1020075979 CA291612490 |
572 | V>M | No |
ClinGen Ensembl |
|
CA400260341 rs1200440432 |
577 | I>V | No |
ClinGen gnomAD |
|
CA400260351 rs1379544558 |
578 | L>* | No |
ClinGen gnomAD |
|
CA400260356 rs1318256894 |
579 | R>K | No |
ClinGen TOPMed |
|
rs747678686 CA8654543 |
579 | R>S | No |
ClinGen ExAC gnomAD |
|
CA400260365 rs1567833073 |
580 | L>F | No |
ClinGen Ensembl |
|
TCGA novel | 582 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400260402 rs1172012006 |
583 | N>S | No |
ClinGen gnomAD |
|
CA291612494 rs547889450 |
584 | M>I | No |
ClinGen Ensembl |
|
TCGA novel | 584 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA291612495 rs902916346 |
585 | L>V | No |
ClinGen Ensembl |
|
CA400260441 rs1296778798 |
586 | P>H | No |
ClinGen gnomAD |
|
CA8654544 COSM189484 rs755582252 |
586 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1360267105 CA400260474 |
589 | I>N | No |
ClinGen gnomAD |
|
rs777303738 CA8654545 |
590 | S>R | No |
ClinGen ExAC gnomAD |
|
CA291612512 rs758726938 |
591 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA400260518 rs1395588267 |
593 | T>A | No |
ClinGen TOPMed |
|
rs892741146 CA291612517 |
593 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA8654574 rs776817609 |
597 | V>G | No |
ClinGen ExAC gnomAD |
|
rs768442839 CA8654573 |
597 | V>M | No |
ClinGen ExAC TOPMed |
|
COSM106379 CA8654577 rs137911252 |
601 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8654576 rs576176010 COSM1599911 |
601 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA8654578 rs199965906 |
602 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs372779205 CA8654580 |
603 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766716602 CA8654579 |
603 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs760129038 CA8654581 |
605 | F>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 606 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs11568608 CA8654582 |
607 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400260743 rs11568608 |
607 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1338511013 CA400260766 |
609 | E>K | No |
ClinGen gnomAD |
|
CA291612740 rs376969333 |
612 | D>E | No |
ClinGen ESP |
|
CA291612741 rs926664992 |
613 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs756758336 CA8654584 |
614 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA8654585 rs533472614 |
614 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8654586 rs750024226 |
615 | S>R | No |
ClinGen ExAC TOPMed |
|
rs779935623 CA8654588 |
616 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8654587 rs202201028 |
616 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1176321866 CA400260863 |
617 | E>Q | No |
ClinGen TOPMed |
|
rs373582948 CA291612757 |
618 | R>G | No |
ClinGen Ensembl |
|
rs1254638509 CA400260893 |
619 | K>Q | No |
ClinGen gnomAD |
|
CA400260914 rs1456726182 |
620 | T>I | No |
ClinGen TOPMed |
|
CA400260911 rs1456726182 |
620 | T>N | No |
ClinGen TOPMed |
|
rs1214932580 CA400260948 |
623 | P>R | No |
ClinGen TOPMed |
|
CA400261043 rs1397860351 |
626 | A>T | No |
ClinGen gnomAD |
|
rs1482380572 CA400261067 |
627 | I>V | No |
ClinGen TOPMed |
|
CA291612945 rs959691251 |
628 | T>S | No |
ClinGen Ensembl |
|
rs746250571 CA8654617 |
629 | I>L | No |
ClinGen ExAC gnomAD |
|
CA400261111 rs1221068133 |
629 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8654618 rs772368658 |
631 | S>G | No |
ClinGen ExAC gnomAD |
|
rs992229942 CA291612964 |
631 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs1241478172 CA400261160 |
632 | G>S | No |
ClinGen gnomAD |
|
CA8654619 rs776003048 |
635 | T>I | No |
ClinGen ExAC gnomAD |
|
CA400261250 rs1487530052 |
636 | W>* | No |
ClinGen gnomAD |
|
rs761134270 CA400261263 |
637 | A>S | No |
ClinGen ExAC gnomAD |
|
CA8654620 rs761134270 |
637 | A>T | No |
ClinGen ExAC gnomAD |
|
CA291612968 rs966719223 |
638 | Q>H | No |
ClinGen Ensembl |
|
CA291612965 rs917896781 |
638 | Q>K | No |
ClinGen Ensembl |
|
CA400261297 rs1597854200 |
639 | D>A | No |
ClinGen Ensembl |
|
rs1204984267 CA400261327 |
642 | P>S | No |
ClinGen TOPMed |
|
CA8654622 rs772762605 |
643 | T>I | No |
ClinGen ExAC |
|
rs1488595636 CA400261333 |
643 | T>P | No |
ClinGen TOPMed gnomAD |
|
rs762361686 CA8654623 |
645 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1195248888 CA400261430 |
648 | D>N | No |
ClinGen TOPMed |
|
rs772460475 CA8654636 |
651 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1181340 CA8654637 rs144530573 |
652 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs769214555 CA8654639 |
654 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400261520 rs769214555 |
654 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351036576 CA400261534 |
655 | A>G | No |
ClinGen TOPMed |
|
rs1226927375 CA400261525 |
655 | A>T | No |
ClinGen gnomAD |
|
CA400261552 rs1333684851 |
657 | V>L | No |
ClinGen gnomAD |
|
CA291613095 rs866391335 |
658 | A>V | No |
ClinGen Ensembl |
|
rs762536067 CA8654641 COSM141510 |
659 | V>M | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs765756800 CA8654642 |
660 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179841818 CA400261611 |
662 | P>T | No |
ClinGen gnomAD |
|
CA8654643 rs142343463 |
663 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400261637 rs759301256 |
664 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400261642 rs1398179974 |
664 | G>D | No |
ClinGen gnomAD |
|
CA8654645 rs759301256 |
664 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759301256 CA400261634 |
664 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400261640 rs1398179974 |
664 | G>V | No |
ClinGen gnomAD |
|
CA400261654 rs1362108049 |
665 | C>S | No |
ClinGen gnomAD |
|
rs752597501 CA8654647 |
667 | K>N | No |
ClinGen ExAC gnomAD |
|
rs755969555 CA8654648 |
669 | S>F | No |
ClinGen ExAC gnomAD |
|
rs757382887 CA8654651 |
672 | S>P | No |
ClinGen ExAC gnomAD |
|
CA400261746 rs1218835250 |
673 | A>S | No |
ClinGen gnomAD |
|
rs978476558 CA291613137 |
673 | A>V | No |
ClinGen TOPMed |
|
rs1279643729 CA400261753 |
674 | L>P | No |
ClinGen gnomAD |
|
CA400261762 rs1567833577 COSM981282 |
676 | G>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA291613140 rs370839895 |
677 | E>K | No |
ClinGen ESP TOPMed |
|
CA8654654 rs758673110 |
679 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654653 rs750488954 |
679 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs747374991 CA8654656 |
681 | L>I | No |
ClinGen ExAC gnomAD |
|
CA291613154 rs781732795 |
683 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781732795 CA8654658 |
683 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1430236878 CA400261837 |
685 | V>M | No |
ClinGen TOPMed |
|
CA8654659 rs748573725 |
686 | H>P | No |
ClinGen ExAC gnomAD |
|
CA8654660 rs770297091 |
687 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771693783 CA8654682 |
691 | V>G | No |
ClinGen ExAC gnomAD |
|
rs138840926 CA8654681 |
691 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400261985 rs1199104559 |
692 | A>S | No |
ClinGen TOPMed |
|
rs1320125366 CA400262006 |
693 | Y>C | No |
ClinGen gnomAD |
|
rs1320362406 CA400262025 |
695 | P>T | No |
ClinGen TOPMed |
|
rs760370500 CA8654684 |
697 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768311563 CA8654685 |
699 | W>R | No |
ClinGen ExAC gnomAD |
|
CA291613276 rs112733744 |
701 | Q>R | No |
ClinGen Ensembl |
|
rs1302593014 CA400262129 |
702 | N>S | No |
ClinGen gnomAD |
|
CA291613278 rs965286496 |
706 | Q>R | No |
ClinGen TOPMed |
|
CA400262195 rs1283576523 |
707 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs531898935 CA8654687 |
707 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8654688 rs188344711 |
708 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8654689 COSM1640734 rs750350038 |
709 | V>M | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
TCGA novel | 711 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763071887 CA8654692 |
712 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400262267 rs1567833686 |
713 | K>Q | No |
ClinGen Ensembl |
|
rs929554071 CA291613297 |
715 | L>P | No |
ClinGen TOPMed |
|
CA8654693 rs148975560 |
715 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs11568584 CA8654695 |
718 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654696 rs767722164 |
719 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767722164 CA400262315 |
719 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654698 rs143749403 |
719 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654697 rs143749403 |
719 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400262314 rs767722164 |
719 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458690598 CA400262318 |
720 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA291613328 rs898188238 |
720 | Y>S | No |
ClinGen Ensembl |
|
rs931536937 CA291613329 |
723 | T>I | No |
ClinGen Ensembl |
|
rs778199640 CA8654699 |
723 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1055418411 CA291613330 |
724 | L>P | No |
ClinGen TOPMed |
|
rs749788424 CA8654700 |
724 | L>V | No |
ClinGen ExAC gnomAD |
|
rs138429197 CA8654702 |
725 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA291613344 rs1013671132 |
728 | A>T | No |
ClinGen gnomAD |
|
CA8654703 rs746464986 |
729 | L>F | No |
ClinGen ExAC gnomAD |
|
CA8654705 rs143021201 |
736 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA291613360 rs200076202 |
738 | G>S | No |
ClinGen Ensembl |
|
CA8654706 rs747954471 |
740 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654707 rs747954471 |
740 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654709 rs773176266 |
743 | E>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 743 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766257330 CA8654711 |
744 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654710 rs762912128 |
744 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 745 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400262479 rs1250386812 |
746 | E>K | No |
ClinGen gnomAD |
|
rs762198229 CA8654737 |
748 | G>D | No |
ClinGen ExAC |
|
CA291615680 rs868547349 |
748 | G>S | No |
ClinGen Ensembl |
|
CA8654738 rs765906864 |
749 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1342548916 CA400264129 |
752 | S>P | No |
ClinGen gnomAD |
|
rs1241617679 CA400264160 |
753 | G>E | No |
ClinGen gnomAD |
|
rs750923752 CA8654739 |
753 | G>R | No |
ClinGen ExAC gnomAD |
|
rs373490478 CA8654741 |
756 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8654740 rs754489613 |
756 | R>W | No |
ClinGen ExAC gnomAD |
|
CA400264242 rs755779050 |
758 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654743 rs755779050 COSM3819968 |
758 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8654742 rs376756717 |
758 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1347610432 CA400264253 |
759 | V>D | No |
ClinGen gnomAD |
|
rs1347610432 CA400264263 |
759 | V>G | No |
ClinGen gnomAD |
|
CA291615715 rs989703658 |
760 | S>C | No |
ClinGen TOPMed |
|
rs777341750 CA291615721 |
760 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777341750 CA8654744 |
760 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749148541 CA8654745 |
761 | L>V | No |
ClinGen ExAC gnomAD |
|
CA400264301 rs1184297842 |
762 | A>G | No |
ClinGen gnomAD |
|
rs1486639793 CA400264298 |
762 | A>S | No |
ClinGen gnomAD |
|
CA8654746 rs770699096 |
763 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 763 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1433214320 CA400264315 |
764 | A>T | No |
ClinGen gnomAD |
|
CA8654747 rs778763729 |
764 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8654750 rs34291385 |
765 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs34291385 CA8654749 |
765 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1030146977 CA291615755 |
767 | S>G | No |
ClinGen TOPMed |
|
CA8654751 rs375780424 |
767 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
CA8654753 rs535710725 |
769 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8654754 rs34696691 |
770 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
rs373386354 CA8654756 |
771 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654755 rs762320996 |
771 | I>N | No |
ClinGen ExAC gnomAD |
|
rs1298327098 CA400264519 |
774 | L>P | No |
ClinGen TOPMed |
|
CA400264542 rs1227559381 |
775 | D>E | No |
ClinGen TOPMed |
|
CA400264523 rs1370887901 |
775 | D>N | No |
ClinGen gnomAD |
|
rs1362873929 CA400264553 |
776 | D>G | No |
ClinGen TOPMed |
|
rs1213242201 CA400264611 |
780 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs766740692 CA8654759 |
780 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654761 rs755617796 |
781 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1194898644 CA400264661 |
782 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA8654764 rs757081537 |
783 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141577167 CA8654763 |
783 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373747748 CA8654767 |
784 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400264689 rs1198269586 |
784 | H>R | No |
ClinGen gnomAD |
|
COSM349372 rs1015932184 CA8654765 |
784 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA400264694 rs1398694533 |
785 | V>M | No |
ClinGen gnomAD |
|
CA8654769 rs376760018 |
786 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400264729 rs1350623568 COSM349373 |
787 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1034006668 CA291615862 |
789 | I>N | No |
ClinGen gnomAD |
|
CA8654770 rs779784976 |
790 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654771 rs370579530 |
791 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1394444232 CA400264786 |
791 | D>G | No |
ClinGen gnomAD |
|
rs762159761 CA8654774 |
793 | V>A | No |
ClinGen ExAC gnomAD |
|
rs139106724 CA8654773 |
793 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1305871584 CA400264818 |
794 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA291615950 rs377343451 |
795 | G>E | No |
ClinGen ESP TOPMed |
|
CA8654776 rs773640405 |
795 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766976446 CA8654778 |
798 | G>V | No |
ClinGen ExAC gnomAD |
|
COSM1610471 rs144001322 CA8654781 |
799 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs144001322 CA8654780 |
799 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1176395882 CA400264893 |
801 | A>T | No |
ClinGen gnomAD |
|
CA8654782 rs753303819 |
801 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654815 rs200429903 |
804 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654816 rs746171655 |
805 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746171655 CA400265008 |
805 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772570072 CA8654817 |
806 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1212920186 COSM1679916 CA400265016 |
806 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs775970205 CA8654818 |
808 | V>M | No |
ClinGen ExAC gnomAD |
|
rs34675700 COSM3691691 CA8654819 |
809 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs766002271 CA8654823 |
811 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654822 rs138307902 |
811 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400265103 rs1430113952 |
814 | F>V | No |
ClinGen TOPMed |
|
rs554045968 CA8654826 |
819 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400265214 rs1166607831 |
822 | I>T | No |
ClinGen TOPMed |
|
TCGA novel | 822 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767621528 CA8654828 |
823 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8654829 rs752660566 |
824 | L>P | No |
ClinGen ExAC gnomAD |
|
rs201948613 CA291616493 |
827 | G>E | No |
ClinGen gnomAD |
|
rs1275388616 CA400265264 |
827 | G>R | No |
ClinGen gnomAD |
|
rs777746452 CA8654831 |
828 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA400265278 rs1231856673 |
828 | Q>L | No |
ClinGen TOPMed gnomAD |
|
rs753903498 CA8654832 |
829 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753903498 CA400265285 |
829 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654834 rs779037082 |
830 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1199648966 CA400265330 |
833 | G>V | No |
ClinGen gnomAD |
|
rs1255491352 CA400265333 |
834 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA8654837 rs369718940 COSM1243981 |
834 | P>L | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
rs1255491352 CA400265334 |
834 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA400265351 rs1159971993 |
837 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 838 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA291616522 rs975586555 |
839 | L>M | No |
ClinGen Ensembl |
|
CA400265364 rs1399663095 |
839 | L>P | No |
ClinGen gnomAD |
|
rs200941858 CA8654843 |
841 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs770775971 CA8654844 |
841 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA400265388 rs1336129052 |
843 | G>D | No |
ClinGen gnomAD |
|
CA8654846 rs759454160 |
843 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs373431767 CA8654847 |
845 | F>C | No |
ClinGen ESP ExAC gnomAD |
|
rs1278056912 CA400265407 |
846 | A>V | No |
ClinGen gnomAD |
|
CA400265410 rs1597856479 |
847 | N>H | No |
ClinGen Ensembl |
|
CA400265416 rs1597856488 |
847 | N>K | No |
ClinGen Ensembl |
|
rs1567835219 CA400265415 |
847 | N>S | No |
ClinGen Ensembl |
|
rs868489247 CA291616547 |
848 | F>Y | No |
ClinGen Ensembl |
|
CA400265443 rs1350194239 |
851 | N>S | No |
ClinGen gnomAD |
|
rs755617550 CA291616552 |
852 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA8654848 rs200413276 |
853 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1213623313 CA400265463 |
854 | P>R | No |
ClinGen gnomAD |
|
CA400265461 rs1467149156 |
854 | P>S | No |
ClinGen gnomAD |
|
CA8654851 rs753866926 |
855 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400265482 rs1361744148 |
857 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs779162111 CA8654853 |
859 | G>R | No |
ClinGen ExAC |
|
TCGA novel | 859 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1037618676 CA291616564 |
862 | E>Q | No |
ClinGen Ensembl |
|
CA8654854 rs750617359 |
863 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA291616567 rs1018761611 |
864 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA400265533 rs1411709732 |
864 | S>T | No |
ClinGen TOPMed |
|
rs758799663 CA8654855 |
865 | W>C | No |
ClinGen ExAC gnomAD |
|
rs747342723 CA8654857 |
867 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654866 rs760451698 |
867 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373307851 CA8654868 |
870 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654869 rs761927231 |
871 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1225894969 CA400266414 |
872 | E>* | No |
ClinGen gnomAD |
|
rs750456363 CA8654871 |
872 | E>A | No |
ClinGen ExAC gnomAD |
|
rs750456363 CA400266417 |
872 | E>V | No |
ClinGen ExAC gnomAD |
|
CA400266424 rs1219937528 |
873 | D>V | No |
ClinGen gnomAD |
|
rs758636064 CA8654872 |
873 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA400266442 rs1424827778 |
875 | E>Q | No |
ClinGen TOPMed |
|
rs766561182 CA8654873 |
876 | A>T | No |
ClinGen ExAC gnomAD |
|
rs190850373 CA8654876 |
879 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA291619537 rs942407959 |
879 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA8654877 rs147862569 |
881 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs971018001 CA291619554 |
883 | L>F | No |
ClinGen TOPMed |
|
rs971018001 CA400266556 |
883 | L>V | No |
ClinGen TOPMed |
|
CA8654878 rs756650872 |
885 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400266603 rs1318810089 |
886 | H>D | No |
ClinGen TOPMed |
|
CA8654881 rs35892518 |
887 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs775202118 CA8654885 |
891 | D>E | No |
ClinGen ExAC gnomAD |
|
CA400266675 rs1364174330 |
891 | D>G | No |
ClinGen gnomAD |
|
CA291619585 rs377587600 |
892 | N>S | No |
ClinGen ESP TOPMed |
|
CA400266708 rs1295523271 |
893 | D>Y | No |
ClinGen gnomAD |
|
rs1372330448 CA400266720 |
894 | P>T | No |
ClinGen gnomAD |
|
rs1338197166 CA400266747 |
895 | V>A | No |
ClinGen TOPMed |
|
CA400266741 rs1278620731 |
895 | V>F | No |
ClinGen gnomAD |
|
rs1170775282 CA400266783 |
897 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs1004898794 CA291619590 |
897 | Y>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 900 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1486575719 CA400266846 |
901 | K>R | No |
ClinGen gnomAD |
|
CA400266844 rs1486575719 |
901 | K>T | No |
ClinGen gnomAD |
|
rs768471141 CA8654887 |
902 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA8654888 rs776471472 |
902 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs142337287 CA8654891 |
904 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8654890 rs765104874 |
904 | M>T | No |
ClinGen ExAC gnomAD |
|
rs761767586 CA8654889 |
904 | M>V | No |
ClinGen ExAC gnomAD |
|
rs142288129 CA8654892 |
905 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400266994 rs1234533476 |
906 | Q>* | No |
ClinGen gnomAD |
|
rs1352357236 CA400267022 |
907 | L>V | No |
ClinGen TOPMed |
|
CA291619672 rs922331962 |
908 | S>C | No |
ClinGen TOPMed |
|
rs1322026804 CA400267051 |
909 | A>T | No |
ClinGen gnomAD |
|
CA291619677 rs745939718 COSM1710480 |
909 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs563258849 CA291619680 |
910 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
rs1181771194 CA400267075 |
910 | L>P | No |
ClinGen gnomAD |
|
CA291619684 rs563258849 |
910 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
rs1476257444 CA400267090 |
911 | S>F | No |
ClinGen gnomAD |
|
CA291619707 rs556776765 |
912 | S>P | No |
ClinGen Ensembl |
|
CA291619708 rs866031652 |
915 | E>G | No |
ClinGen Ensembl |
|
CA8654916 rs774257178 |
916 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400267149 rs1413789551 |
916 | G>R | No |
ClinGen gnomAD |
|
CA400267160 rs1173092566 |
917 | Q>* | No |
ClinGen gnomAD |
|
rs759827958 CA8654917 |
917 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs767575877 CA8654918 |
918 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA400267174 rs1307048456 |
918 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA400267173 rs767575877 |
918 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1307048456 CA400267177 |
918 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1012299385 CA291619730 |
919 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs753114408 CA8654919 |
919 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764755029 CA8654921 |
920 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs35999272 CA8654920 |
920 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA291619742 rs1003840355 |
921 | V>I | No |
ClinGen Ensembl |
|
rs757883341 CA8654924 |
922 | P>S | No |
ClinGen ExAC gnomAD |
|
RCV000973749 rs34502058 CA8654925 |
923 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371874263 CA291619746 |
923 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
CA400267228 rs750981656 |
925 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654926 rs750981656 |
925 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754666400 CA8654927 |
927 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400267243 rs1486774452 |
927 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA291619761 rs899196420 |
928 | P>S | No |
ClinGen TOPMed |
|
rs1188831806 CA400267268 |
929 | S>L | No |
ClinGen gnomAD |
|
rs138376401 CA8654928 |
930 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400267295 rs1283314398 |
931 | K>N | No |
ClinGen TOPMed |
|
rs1597858032 CA400267296 |
932 | V>M | No |
ClinGen Ensembl |
|
rs867421933 CA291619768 |
933 | Q>* | No |
ClinGen Ensembl |
|
CA291619777 rs915303963 |
934 | V>M | No |
ClinGen gnomAD |
|
rs1331719537 CA400267343 |
936 | E>G | No |
ClinGen gnomAD |
|
rs141375140 CA8654931 |
937 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1359745351 CA400267359 |
938 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1227478469 CA400267380 |
939 | A>E | No |
ClinGen gnomAD |
|
CA291619800 rs200829308 |
940 | D>G | No |
ClinGen 1000Genomes |
|
CA291619791 rs543103216 |
940 | D>N | No |
ClinGen gnomAD |
|
CA291619805 rs1034422305 |
941 | G>A | No |
ClinGen TOPMed |
|
rs1567836453 CA400267416 |
943 | L>V | No |
ClinGen Ensembl |
|
rs986524232 CA400267442 |
945 | Q>L | No |
ClinGen gnomAD |
|
rs986524232 CA291619818 |
945 | Q>P | No |
ClinGen gnomAD |
|
CA291619823 rs911919939 |
946 | E>K | No |
ClinGen gnomAD |
|
CA400267462 rs1365946495 |
947 | E>K | No |
ClinGen TOPMed |
|
rs1218008195 CA400267489 |
949 | A>P | No |
ClinGen gnomAD |
|
rs1218008195 CA400267488 |
949 | A>T | No |
ClinGen gnomAD |
|
rs1240902204 CA400267493 |
949 | A>V | No |
ClinGen gnomAD |
|
CA8654933 rs375763222 |
951 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400267601 rs1597858217 |
954 | V>G | No |
ClinGen Ensembl |
|
rs947854755 CA291619972 |
954 | V>M | No |
ClinGen Ensembl |
|
rs1333332630 CA400267667 |
960 | W>R | No |
ClinGen gnomAD |
|
rs201630957 CA8654958 |
961 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1251708759 CA400267712 |
963 | A>V | No |
ClinGen gnomAD |
|
CA8654960 rs151090128 |
966 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8654961 rs773574170 |
967 | G>R | No |
ClinGen ExAC gnomAD |
|
CA400267759 rs1472006894 |
968 | L>F | No |
ClinGen gnomAD |
|
rs145158901 CA291619999 |
968 | L>P | No |
ClinGen ESP TOPMed |
|
rs908077210 CA291620002 |
970 | T>I | No |
ClinGen TOPMed |
|
CA8654962 rs759129594 |
971 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654966 rs763668442 |
973 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
CA400267809 rs1209227862 |
974 | I>V | No |
ClinGen gnomAD |
|
CA400267848 rs1411403659 |
978 | Y>* | No |
ClinGen gnomAD |
|
CA400267889 rs1415548547 |
982 | S>R | No |
ClinGen gnomAD |
|
rs756988794 COSM3717462 CA8654969 |
983 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs745757614 CA400267915 |
984 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745757614 CA8654971 |
984 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758367574 CA8654972 |
986 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291620032 rs899398665 |
987 | G>E | No |
ClinGen TOPMed |
|
TCGA novel | 988 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8654973 rs375947911 |
988 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8654974 rs369704766 |
989 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769068962 CA8654975 |
990 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291620064 rs200676222 |
991 | W>* | No |
ClinGen Ensembl |
|
CA400268029 rs1379483312 |
993 | S>G | No |
ClinGen TOPMed |
|
CA291620068 rs1011048507 |
993 | S>I | No |
ClinGen TOPMed |
|
rs1011048507 CA400268033 |
993 | S>N | No |
ClinGen TOPMed |
|
rs776708112 CA8654976 |
994 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1446250425 CA400268046 |
994 | A>T | No |
ClinGen TOPMed |
|
CA400268050 rs776708112 |
994 | A>V | No |
ClinGen ExAC gnomAD |
|
rs748599112 CA8654977 |
995 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1421472021 CA400268100 |
998 | D>G | No |
ClinGen gnomAD |
|
CA400268134 rs1373552855 |
1000 | M>I | No |
ClinGen gnomAD |
|
CA400268128 rs1186782722 |
1000 | M>T | No |
ClinGen gnomAD |
|
rs563422330 CA400268164 |
1003 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8654978 rs563422330 |
1003 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1295030148 CA400268189 |
1004 | R>S | No |
ClinGen TOPMed |
|
CA400268195 rs1458383933 |
1005 | Q>E | No |
ClinGen TOPMed |
|
rs773586959 CA8654979 |
1005 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8654981 rs766815731 |
1007 | N>D | No |
ClinGen ExAC gnomAD |
|
CA8654986 rs750087743 |
1014 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750087743 CA8654985 |
1014 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8654987 rs376814354 |
1015 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
CA400268954 rs1248896033 |
1016 | A>T | No |
ClinGen TOPMed |
|
CA8654989 rs750179426 |
1019 | G>R | No |
ClinGen ExAC gnomAD |
|
rs372833974 CA8654990 |
1020 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1597858374 CA400269081 |
1023 | G>R | No |
ClinGen Ensembl |
|
TCGA novel | 1027 | M>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8655011 rs781154401 |
1027 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291620234 rs866685558 |
1027 | M>T | No |
ClinGen TOPMed |
|
CA400269243 rs781154401 |
1027 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1443659184 CA400269290 |
1030 | A>G | No |
ClinGen gnomAD |
|
rs1465190672 CA400269307 |
1031 | M>K | No |
ClinGen TOPMed |
|
CA400269348 rs1597858518 |
1033 | M>R | No |
ClinGen Ensembl |
|
CA400269366 rs1292137788 |
1034 | A>G | No |
ClinGen gnomAD |
|
CA8655013 rs558924597 |
1035 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400269424 rs1330634016 |
1037 | G>D | No |
ClinGen gnomAD |
|
CA291620244 rs951298957 |
1042 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA291620245 rs903248542 |
1042 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs951298957 CA400269511 |
1042 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs1597858540 CA400269540 |
1043 | V>G | No |
ClinGen Ensembl |
|
CA400269572 rs202227738 |
1045 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs202227738 CA8655015 |
1045 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs984039546 CA291620254 |
1047 | A>V | No |
ClinGen Ensembl |
|
rs1201954518 CA400269615 |
1048 | L>P | No |
ClinGen gnomAD |
|
rs1201265564 CA400269655 |
1051 | N>D | No |
ClinGen TOPMed |
|
rs141068276 CA8655017 |
1054 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1254184775 CA400269732 |
1054 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA400269730 rs1254184775 |
1054 | R>L | No |
ClinGen TOPMed gnomAD |
|
COSM349374 rs1220211975 CA400269741 |
1055 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA8655019 rs371167653 |
1057 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA291620261 rs371167653 |
1057 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776014498 CA8655020 |
1059 | F>L | No |
ClinGen ExAC gnomAD |
|
CA8655021 rs761316699 |
1059 | F>S | No |
ClinGen ExAC gnomAD |
|
rs769397443 CA8655022 |
1061 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374171279 CA400269861 |
1062 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
CA291620279 rs374171279 |
1062 | T>N | No |
ClinGen ESP TOPMed |
|
rs1407532300 CA400269870 |
1063 | T>A | No |
ClinGen gnomAD |
|
CA8655023 rs772980326 |
1065 | S>* | No |
ClinGen ExAC gnomAD |
|
rs762885036 CA8655024 |
1066 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655025 rs766311637 |
1067 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA400269926 rs766311637 |
1067 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655026 rs751354684 |
1067 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs927704544 CA291620307 |
1068 | I>V | No |
ClinGen Ensembl |
|
CA400270006 rs1277124682 CA400270008 |
1070 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs767423739 CA8655029 |
1073 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8655030 rs752787969 |
1074 | K>E | No |
ClinGen ExAC gnomAD |
|
rs937505514 CA291620333 |
1075 | D>V | No |
ClinGen TOPMed |
|
rs764271392 CA8655032 |
1077 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1318354542 CA400270159 |
1078 | V>I | No |
ClinGen TOPMed |
|
CA8655035 rs779268222 |
1079 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA400270181 rs779268222 |
1079 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs79053210 CA291620340 |
1080 | D>N | No |
ClinGen Ensembl |
|
rs79053210 CA291620345 |
1080 | D>Y | No |
ClinGen Ensembl |
|
CA400270213 rs1372083874 |
1081 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs1449519009 CA400270313 |
1087 | I>T | No |
ClinGen gnomAD |
|
rs917485829 CA291620360 |
1092 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs141660105 CA8655040 |
1092 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8655039 rs141660105 |
1092 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400270435 rs1243417686 |
1094 | F>L | No |
ClinGen TOPMed |
|
TCGA novel | 1095 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1380206473 CA400270469 |
1096 | N>D | No |
ClinGen TOPMed |
|
rs368347928 CA8655042 |
1097 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1204744261 CA400270517 |
1098 | I>V | No |
ClinGen gnomAD |
|
rs1172721178 CA400270606 |
1102 | V>A | No |
ClinGen gnomAD |
|
CA400270600 rs1444248548 |
1102 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA400270660 COSM1303037 rs774293390 |
1104 | I>M | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs759372967 CA8655046 |
1105 | M>V | No |
ClinGen ExAC gnomAD |
|
CA8655047 rs767414256 |
1106 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655048 rs775474167 |
1106 | A>V | No |
ClinGen ExAC gnomAD |
|
CA400270706 rs1383403640 |
1107 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs760707428 CA8655049 |
1107 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199698625 CA8655050 |
1108 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs200200001 CA291620400 |
1108 | T>P | No |
ClinGen 1000Genomes gnomAD |
|
CA8655052 rs564256468 |
1109 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400270725 rs564256468 |
1109 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs758774339 CA8655055 |
1112 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1113 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400270783 rs1304500940 |
1115 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA8655058 rs140501798 |
1117 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs1440448028 CA400270817 |
1118 | L>P | No |
ClinGen TOPMed |
|
CA400270880 rs1424532321 |
1124 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA8655060 rs748745615 |
1125 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1363827918 CA400270902 |
1126 | Q>H | No |
ClinGen TOPMed |
|
CA8655082 rs201622126 |
1127 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400271006 rs1205639443 |
1127 | R>H | No |
ClinGen TOPMed |
|
rs1409744358 CA400271061 |
1132 | T>I | No |
ClinGen gnomAD |
|
CA8655085 rs200903266 |
1134 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400271069 rs1163700000 |
1134 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA291621342 rs983704326 |
1136 | L>P | No |
ClinGen gnomAD |
|
rs983704326 CA291621343 |
1136 | L>R | No |
ClinGen gnomAD |
|
rs371480718 CA8655087 |
1138 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655086 rs200753673 |
1138 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360519835 CA400271095 |
1139 | L>M | No |
ClinGen TOPMed |
|
CA400271097 rs1411815249 |
1139 | L>P | No |
ClinGen gnomAD |
|
CA400271104 rs1243993273 |
1140 | E>D | No |
ClinGen TOPMed |
|
CA8655088 rs776534290 |
1140 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1286549736 CA400271100 |
1140 | E>Q | No |
ClinGen gnomAD |
|
CA400271114 rs1307403371 |
1142 | V>D | No |
ClinGen TOPMed |
|
rs1307403371 CA400271116 |
1142 | V>G | No |
ClinGen TOPMed |
|
CA8655089 rs761927302 |
1142 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655090 rs769895458 |
1144 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655091 rs773118008 |
1144 | R>H | No |
ClinGen ExAC gnomAD |
|
CA400271128 rs773118008 |
1144 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1304503815 CA400271139 |
1146 | P>R | No |
ClinGen TOPMed |
|
rs763250253 CA8655092 |
1147 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400271151 rs1364342363 |
1148 | Y>C | No |
ClinGen TOPMed |
|
rs766445651 CA8655093 |
1149 | S>P | No |
ClinGen ExAC gnomAD |
|
CA400271173 rs1248986992 |
1151 | F>C | No |
ClinGen gnomAD |
|
TCGA novel | 1151 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8655095 rs759969886 COSM3356938 |
1152 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8655094 rs752032243 |
1152 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756646865 CA8655098 |
1157 | G>D | No |
ClinGen ExAC gnomAD |
|
CA291621406 rs778504540 |
1159 | S>I | No |
ClinGen ExAC gnomAD |
|
CA8655099 rs778504540 |
1159 | S>T | No |
ClinGen ExAC gnomAD |
|
CA8655100 rs376718291 |
1162 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
CA400271237 rs1370054312 |
1162 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs376718291 CA291621417 |
1162 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
CA400271254 rs1419062685 |
1165 | N>H | No |
ClinGen TOPMed |
|
CA400271260 rs1250241706 |
1165 | N>K | No |
ClinGen TOPMed |
|
rs34620384 CA8655101 |
1166 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8655104 rs746878168 |
1166 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8655103 rs746878168 |
1166 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8655102 rs34620384 |
1166 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1244595927 CA400271269 |
1167 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs200005286 CA8655107 |
1168 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748107210 CA8655106 |
1168 | R>W | No |
ClinGen ExAC gnomAD |
|
rs139738090 CA8655108 |
1169 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749327914 CA8655109 |
1171 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1266125910 CA400271306 |
1173 | I>F | No |
ClinGen Ensembl |
|
CA400271341 rs1210976336 |
1178 | V>M | No |
ClinGen gnomAD |
|
CA400271365 rs1597859377 |
1181 | N>S | No |
ClinGen Ensembl |
|
rs774416690 CA8655112 |
1183 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768022704 CA8655114 |
1185 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1186 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597859390 CA400271403 |
1186 | Y>S | No |
ClinGen Ensembl |
|
rs775945263 CA8655115 |
1187 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655116 rs761274380 |
1188 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA8655117 rs764437327 |
1189 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400271418 rs764437327 |
1189 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750015866 CA8655118 |
1190 | I>F | No |
ClinGen ExAC gnomAD |
|
rs757832571 CA8655119 |
1192 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655120 rs766103116 |
1192 | N>S | No |
ClinGen ExAC gnomAD |
|
rs199994657 CA8655124 |
1193 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199994657 CA400271443 |
1193 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199994657 CA8655123 |
1193 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754578762 CA8655122 |
1193 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770270819 CA8655156 |
1194 | W>C | No |
ClinGen ExAC gnomAD |
|
CA291621757 rs145688585 |
1194 | W>G | No |
ClinGen ESP TOPMed gnomAD |
|
rs369764327 CA8655158 |
1198 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767210200 CA8655159 |
1199 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs890019735 CA291621766 |
1199 | V>M | No |
ClinGen TOPMed |
|
CA400271738 rs1254073242 |
1200 | E>D | No |
ClinGen gnomAD |
|
rs752318961 CA8655160 |
1201 | F>I | No |
ClinGen ExAC gnomAD |
|
CA291621776 rs752318961 |
1201 | F>V | No |
ClinGen ExAC gnomAD |
|
CA291621777 rs886208245 |
1202 | V>A | No |
ClinGen gnomAD |
|
CA8655162 rs763821248 |
1202 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1163110030 CA400271752 |
1203 | G>E | No |
ClinGen gnomAD |
|
rs1368204183 CA400271756 |
1204 | N>D | No |
ClinGen gnomAD |
|
TCGA novel | 1204 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1423612785 CA400271762 |
1204 | N>K | No |
ClinGen gnomAD |
|
rs373502746 CA400271764 |
1205 | C>G | No |
ClinGen ESP TOPMed gnomAD |
|
rs373502746 CA291621779 |
1205 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs1020000343 CA291621780 |
1205 | C>W | No |
ClinGen TOPMed gnomAD |
|
CA8655163 rs753608845 |
1206 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757144043 CA8655164 |
1207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400271782 rs1397349300 |
1208 | L>H | No |
ClinGen TOPMed |
|
CA400271797 rs1379795260 |
1210 | A>G | No |
ClinGen gnomAD |
|
rs1379795260 CA400271798 |
1210 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA400271811 rs1229449773 |
1213 | F>L | No |
ClinGen gnomAD |
|
rs1277013024 CA400271818 |
1214 | A>T | No |
ClinGen gnomAD |
|
rs1567837537 CA400271826 |
1215 | V>D | No |
ClinGen Ensembl |
|
rs202122194 CA8655167 |
1215 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370832587 CA8655168 |
1216 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655170 CA8655171 rs768867306 |
1217 | G>R | No |
ClinGen ExAC gnomAD |
|
CA8655173 COSM1189507 rs748542035 |
1219 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8655175 rs531699413 |
1223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs531699413 CA400271877 |
1223 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771604476 CA8655177 |
1224 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1300967530 CA400271893 |
1226 | V>A | No |
ClinGen gnomAD |
|
rs1300967530 CA400271894 |
1226 | V>G | No |
ClinGen gnomAD |
|
rs1435508873 CA400271895 |
1227 | G>S | No |
ClinGen gnomAD |
|
CA400271927 rs1340286467 |
1232 | Y>H | No |
ClinGen gnomAD |
|
CA8655180 rs763733488 |
1232 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1236 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA291622892 rs146589964 |
1239 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
CA8655200 rs183386954 |
1239 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA400272068 rs1323005839 |
1244 | I>M | No |
ClinGen gnomAD |
|
CA400272061 rs1196635253 COSM1742608 |
1244 | I>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8655202 rs141342899 |
1245 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8655203 rs766417583 |
1245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655204 rs201446969 |
1246 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1382541859 CA400272114 |
1248 | S>L | No |
ClinGen gnomAD |
|
CA8655205 rs148031832 |
1249 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 1250 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767675983 CA8655206 |
1251 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400272179 rs1282737884 |
1253 | N>I | No |
ClinGen gnomAD |
|
CA8655209 rs778127283 |
1255 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8655210 rs190695170 |
1256 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400272209 rs1567837934 |
1256 | A>S | No |
ClinGen Ensembl |
|
TCGA novel | 1256 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8655211 rs757825269 |
1257 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1290220058 CA400272230 |
1258 | E>G | No |
ClinGen gnomAD |
|
CA8655212 rs779457161 |
1260 | V>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1260 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1219717105 CA400272307 |
1264 | S>F | No |
ClinGen gnomAD |
|
CA400272317 rs1195407776 |
1265 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs746546036 CA8655213 |
1268 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1268 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1268 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8655232 rs145122306 |
1270 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400273664 rs145122306 |
1270 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145122306 CA8655233 |
1270 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400273690 rs371532369 |
1272 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400273691 CA8655236 rs371532369 |
1272 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1385875114 CA400273689 |
1272 | W>L | No |
ClinGen TOPMed |
|
rs374143344 CA400273692 |
1273 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374143344 CA8655237 |
1273 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777545379 CA8655238 |
1275 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1275 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA400273734 rs1338130118 |
1276 | G>C | No |
ClinGen gnomAD |
|
CA400273726 rs1338130118 |
1276 | G>S | No |
ClinGen gnomAD |
|
rs770794110 CA8655240 |
1277 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655241 rs773972809 |
1278 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759534433 CA8655242 |
1278 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8655243 rs759534433 |
1278 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8655244 rs775610684 |
1279 | P>L | No |
ClinGen ExAC gnomAD |
|
CA400273787 rs1248521884 |
1280 | P>R | No |
ClinGen TOPMed |
|
CA8655248 rs761899620 |
1281 | E>G | No |
ClinGen ExAC gnomAD |
|
CA8655247 rs754026312 |
1281 | E>K | No |
ClinGen ExAC gnomAD |
|
CA400273816 rs750695373 |
1282 | G>D | No |
ClinGen ExAC gnomAD |
|
rs750695373 CA8655250 |
1282 | G>V | No |
ClinGen ExAC gnomAD |
|
rs539388070 CA8655251 |
1284 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA291625647 rs371476240 |
1285 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA291625650 rs371476240 |
1285 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA8655253 rs11568593 |
1286 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs11568593 CA8655252 VAR_029120 |
1286 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8655255 rs572541933 |
1286 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655254 rs572541933 |
1286 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400273856 rs11568593 |
1286 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8655256 rs200686449 |
1287 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA291625707 rs745695336 |
1288 | E>G | No |
ClinGen Ensembl |
|
CA400273884 rs1292934429 |
1288 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA400273885 rs1292934429 |
1288 | E>Q | No |
ClinGen gnomAD |
|
rs561696182 CA8655258 |
1289 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8655257 rs770435677 |
1289 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1290 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745649249 CA8655259 |
1290 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs998857582 CA291625737 |
1290 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8655261 rs140585197 |
1292 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8655260 rs772101927 |
1292 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1016344586 CA291625751 |
1294 | Y>C | No |
ClinGen Ensembl |
|
COSM354838 CA8655262 rs150484971 |
1297 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs11568591 VAR_020237 CA8655263 |
1297 | R>H | does not affect subcellular localizattion; does not affect the transport of monoglucuronosyl bilirubin, bisglucuronosyl bilirubin, leukotriene C4, dehydroepiandrosterone-3-sulfate and 17-beta-glucuronosyl oestradiol [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs762106846 CA8655266 |
1299 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8655265 rs762106846 |
1299 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8655264 rs183576378 |
1299 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655268 rs41280128 |
1300 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400274047 rs41280128 |
1300 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752145361 CA8655270 |
1301 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752145361 CA400274055 |
1301 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655271 rs755496703 |
1302 | L>P | No |
ClinGen ExAC gnomAD |
|
CA400274070 rs1383784366 |
1303 | D>H | No |
ClinGen gnomAD |
|
CA291625816 rs954030232 |
1304 | L>R | No |
ClinGen TOPMed |
|
rs199473685 CA400274102 |
1305 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655272 rs199473685 |
1305 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400274128 rs1284649308 |
1307 | R>S | No |
ClinGen gnomAD |
|
TCGA novel | 1308 | D>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA291625832 rs917838847 |
1312 | H>Q | No |
ClinGen TOPMed |
|
CA8655274 rs757004358 |
1312 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1197143519 CA400274212 |
1314 | H>Y | No |
ClinGen gnomAD |
|
rs370860497 CA8655277 |
1315 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370860497 CA8655278 |
1315 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA291625856 rs191359602 |
1317 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
CA8655281 rs764228555 |
1318 | K>E | No |
ClinGen ExAC gnomAD |
|
CA400274390 rs1026887461 |
1321 | I>M | No |
ClinGen TOPMed gnomAD |
|
COSM1303038 rs142763506 CA8655316 |
1322 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8655317 rs754738133 |
1323 | G>D | No |
ClinGen ExAC gnomAD |
|
rs781001572 CA8655318 |
1324 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655319 rs141856639 |
1324 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8655320 rs756023369 |
1325 | T>A | No |
ClinGen ExAC gnomAD |
|
CA400274432 rs1169702121 |
1325 | T>I | No |
ClinGen gnomAD |
|
rs749376598 CA8655322 |
1326 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1188723457 CA400274455 |
1327 | A>G | No |
ClinGen gnomAD |
|
CA400274447 rs1334460494 |
1327 | A>T | No |
ClinGen gnomAD |
|
CA8655323 rs771342063 |
1328 | G>A | No |
ClinGen ExAC gnomAD |
|
CA400274474 rs1436118137 |
1329 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs779259172 CA291626195 |
1330 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655324 rs779259172 |
1330 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291626230 rs866575899 |
1332 | M>T | No |
ClinGen TOPMed |
|
CA291626225 rs963450991 |
1332 | M>V | No |
ClinGen gnomAD |
|
rs1159050116 CA400274539 |
1333 | T>I | No |
ClinGen TOPMed |
|
rs1326302648 CA400274581 |
1336 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs141762939 CA8655326 |
1338 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775872878 CA8655327 |
1338 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1216120620 CA400274623 |
1339 | I>T | No |
ClinGen gnomAD |
|
CA291626249 rs778493891 |
1342 | A>E | No |
ClinGen ExAC gnomAD |
|
CA8655328 rs761096441 |
1342 | A>S | No |
ClinGen ExAC gnomAD |
|
CA8655329 rs778493891 |
1342 | A>V | No |
ClinGen ExAC gnomAD |
|
rs867858605 CA291626263 |
1343 | A>T | No |
ClinGen Ensembl |
|
CA8655330 RCV000893717 rs150601692 |
1344 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376990348 CA400274687 CA8655331 |
1344 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400274681 rs1567839162 |
1344 | K>R | No |
ClinGen Ensembl |
|
CA400274690 rs1597861850 |
1345 | G>S | No |
ClinGen Ensembl |
|
rs11568588 CA8655333 |
1348 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1405143543 CA400274731 |
1348 | R>H | No |
ClinGen gnomAD |
|
rs759141288 CA8655334 |
1349 | I>T | No |
ClinGen ExAC gnomAD |
|
CA291626290 rs893358698 |
1349 | I>V | No |
ClinGen TOPMed |
|
CA8655335 rs767230399 |
1351 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1567839186 CA400274760 |
1351 | G>S | No |
ClinGen Ensembl |
|
CA8655336 rs114877000 RCV000903808 |
1352 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1294195102 CA400274791 |
1353 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA400274809 rs1222250716 |
1354 | V>A | No |
ClinGen gnomAD |
|
CA400274814 rs1402974832 |
1355 | A>T | No |
ClinGen TOPMed |
|
CA400274823 rs1283183522 |
1355 | A>V | No |
ClinGen gnomAD |
|
rs1597861909 CA400274852 |
1357 | I>T | No |
ClinGen Ensembl |
|
rs187814086 CA8655339 |
1358 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1418860776 CA400274881 |
1359 | L>P | No |
ClinGen TOPMed |
|
rs373969806 CA8655341 |
1360 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA291626342 rs369815202 |
1360 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs1051625 CA291626347 |
1362 | L>V | No |
ClinGen Ensembl |
|
CA8655342 rs746112608 |
1363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370830587 CA8655343 |
1363 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs1423802491 CA400274949 |
1364 | S>C | No |
ClinGen TOPMed |
|
rs11568590 VAR_020239 CA8655345 |
1365 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA291626364 rs769100902 |
1370 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769100902 CA8655347 |
1370 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400275511 rs1597862204 |
1372 | D>A | No |
ClinGen Ensembl |
|
rs771674549 CA8655374 |
1373 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8655375 rs542368509 |
1377 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs760201402 CA400275550 |
1378 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760201402 CA400275549 |
1378 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760201402 CA8655376 |
1378 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655377 rs373550035 |
1379 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
rs45461799 CA8655378 |
1381 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA291626877 rs45461799 |
1381 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655380 rs182137402 COSM981295 |
1381 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs182137402 CA400275561 |
1381 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_020240 rs45461799 CA8655379 |
1381 | R>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750587507 CA400275569 CA8655381 |
1382 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1259470530 CA400275563 |
1382 | M>V | No |
ClinGen TOPMed |
|
rs1476414792 CA400275577 |
1383 | N>K | No |
ClinGen gnomAD |
|
CA8655382 rs758481577 |
1383 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400275605 rs751830191 |
1388 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655385 rs751830191 |
1388 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400275640 rs1597862249 |
1393 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 1394 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8655387 rs781543371 |
1394 | D>N | No |
ClinGen ExAC gnomAD |
|
CA291626951 rs11549764 |
1398 | A>V | No |
ClinGen Ensembl |
|
CA8655389 rs756674865 |
1400 | E>* | No |
ClinGen ExAC gnomAD |
|
rs1268406396 CA400275695 |
1400 | E>G | No |
ClinGen gnomAD |
|
rs1597862265 CA400275713 |
1403 | H>P | No |
ClinGen Ensembl |
|
CA400275719 rs1317237681 |
1404 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1204148889 CA400275720 |
1404 | L>Q | No |
ClinGen gnomAD |
|
rs1045001506 CA291626965 |
1405 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs778233657 CA8655390 |
1406 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140060241 CA8655391 |
1406 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778233657 CA400275731 |
1406 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1410401804 CA400275751 |
1409 | S>N | No |
ClinGen TOPMed |
|
rs774809835 CA8655393 |
1409 | S>R | No |
ClinGen ExAC gnomAD |
|
rs768353981 CA8655395 |
1412 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655394 rs143710549 |
1412 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1427696019 CA400275782 |
1414 | G>V | No |
ClinGen gnomAD |
|
CA8655398 rs769900238 |
1416 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1383501101 CA400275803 |
1417 | F>L | No |
ClinGen gnomAD |
|
rs1385211987 CA400275802 |
1417 | F>S | No |
ClinGen TOPMed gnomAD |
|
CA400275810 rs1567839475 |
1418 | Q>H | No |
ClinGen Ensembl |
|
CA400275809 rs920842139 |
1418 | Q>L | No |
ClinGen TOPMed |
|
rs920842139 CA291627045 |
1418 | Q>P | No |
ClinGen TOPMed |
|
rs773169618 CA8655399 |
1419 | C>F | No |
ClinGen ExAC gnomAD |
|
rs1339230106 CA400275820 |
1420 | S>P | No |
ClinGen gnomAD |
|
COSM106608 rs143491192 CA291627059 |
1422 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs762759422 CA8655400 |
1422 | G>S | No |
ClinGen ExAC gnomAD |
|
CA8655402 rs148982238 |
1423 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA400275845 rs1232241353 |
1424 | E>A | No |
ClinGen gnomAD |
|
CA400275852 rs1597862305 |
1425 | N>Y | No |
ClinGen Ensembl |
|
rs764451902 CA291629092 |
1427 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1344101626 CA400275889 |
1428 | V>G | No |
ClinGen TOPMed |
|
rs532140025 CA8655426 |
1428 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA400275907 rs1164938257 |
1431 | R>T | No |
ClinGen gnomAD |
|
CA8655427 rs757847097 |
1433 | L>I | No |
ClinGen ExAC gnomAD |
|
CA291629158 rs559149910 |
1434 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655430 rs559149910 |
1434 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655431 rs369148795 |
1437 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655432 rs747825449 |
1438 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769504392 CA400275948 |
1438 | R>L | No |
ClinGen ExAC gnomAD |
|
rs769504392 CA400275947 |
1438 | R>P | No |
ClinGen ExAC gnomAD |
|
CA8655433 rs769504392 |
1438 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA400275956 rs1383822842 |
1440 | L>V | No |
ClinGen gnomAD |
|
CA8655434 rs201242155 |
1442 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs527762615 CA8655435 |
1442 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs527762615 CA400275969 |
1442 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs527762615 CA400275968 |
1442 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs547523159 CA8655438 |
1445 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8655439 rs143817593 |
1445 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400275991 rs775486053 |
1446 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400275990 rs775486053 |
1446 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775486053 CA8655440 |
1446 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400275996 rs1359582966 |
1447 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1244056050 CA400276009 |
1449 | L>V | No |
ClinGen gnomAD |
|
rs1567840125 CA400276028 |
1451 | E>D | No |
ClinGen Ensembl |
|
rs151127594 CA8655442 |
1451 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655443 rs777114534 |
1454 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3983545 rs762064825 CA8655444 |
1455 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8655447 rs750999404 |
1457 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655446 rs750999404 |
1457 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA400276069 rs1460353868 |
1458 | L>P | No |
ClinGen gnomAD |
|
CA8655448 rs767139560 |
1459 | E>G | No |
ClinGen ExAC gnomAD |
|
CA400276083 rs1406497194 |
1460 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs755887561 CA8655450 |
1463 | L>V | No |
ClinGen ExAC gnomAD |
|
rs144430887 CA8655451 |
1465 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs937268502 CA291629320 |
1465 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs749145917 CA8655452 |
1466 | A>G | No |
ClinGen ExAC gnomAD |
|
CA291629321 rs968583811 |
1466 | A>T | No |
ClinGen gnomAD |
|
rs1306273512 CA400276166 |
1468 | I>T | No |
ClinGen gnomAD |
|
rs1320636262 CA400276160 |
1468 | I>V | No |
ClinGen TOPMed |
|
rs757031551 CA8655453 |
1469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1264167287 CA400276179 |
1469 | R>H | No |
ClinGen gnomAD |
|
rs757031551 CA400276172 |
1469 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655455 rs140690263 |
1470 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655456 rs570269563 |
1470 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8655457 rs775617023 |
1471 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs768973954 CA8655459 |
1474 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768973954 CA400276244 |
1474 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655461 rs776687984 |
1477 | V>I | No |
ClinGen ExAC |
|
rs539211035 CA8655463 |
1481 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1458443071 CA400276336 |
1482 | H>Q | No |
ClinGen TOPMed |
|
rs1295551823 CA400276331 |
1482 | H>R | No |
ClinGen TOPMed |
|
rs773653634 CA8655465 |
1482 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655467 COSM1165722 rs145738704 |
1483 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
COSM1710482 CA8655466 rs763621949 |
1483 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1567840188 CA400276350 |
1484 | L>F | No |
ClinGen Ensembl |
|
rs755545854 CA8655469 |
1485 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8655470 rs763617056 |
1487 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1567840192 CA400276406 |
1488 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA8655471 rs753452061 |
1488 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1488 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1497 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1501 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1285878786 CA400258042 |
1502 | A>D | No |
ClinGen gnomAD |
|
rs1567841115 CA400258064 |
1504 | F>L | No |
ClinGen Ensembl |
|
CA400258067 rs1166512440 |
1504 | F>S | No |
ClinGen gnomAD |
|
rs1378260943 CA400258081 |
1506 | S>A | No |
ClinGen TOPMed |
|
CA8655497 rs373017068 |
1506 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA400258086 rs1215244518 |
1507 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1215244518 CA400258085 |
1507 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA8655499 rs779787382 |
1511 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291589724 rs11656685 |
1513 | A>D | No |
ClinGen Ensembl |
|
CA400258130 rs1470371545 |
1514 | R>T | No |
ClinGen gnomAD |
|
CA8655502 rs141186118 |
1515 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8655501 rs141186118 |
1515 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1419264277 CA400258138 |
1516 | I>V | No |
ClinGen gnomAD |
|
CA291589743 rs781289518 |
1519 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs749478863 CA8655506 |
1523 | D>N | No |
ClinGen ExAC gnomAD |
|
rs917330486 CA291589755 |
1525 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA291589757 rs950099105 |
1527 | A>V | No |
ClinGen Ensembl |
No associated diseases with O15438
10 regional properties for O15438
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | B-box-type zinc finger | 19 - 61 | IPR000315 |
domain | B30.2/SPRY domain | 249 - 442 | IPR001870 |
domain | SPRY domain | 319 - 442 | IPR003877 |
domain | Butyrophylin-like, SPRY domain | 265 - 282 | IPR003879-1 |
domain | Butyrophylin-like, SPRY domain | 304 - 328 | IPR003879-2 |
domain | Butyrophylin-like, SPRY domain | 335 - 348 | IPR003879-3 |
domain | Butyrophylin-like, SPRY domain | 382 - 406 | IPR003879-4 |
domain | Butyrophylin-like, SPRY domain | 413 - 431 | IPR003879-5 |
domain | SPRY-associated | 266 - 318 | IPR006574 |
domain | TRIM14, PRY/SPRY domain | 269 - 441 | IPR044116 |
Functions
4 GO annotations of cellular component
Name | Definition |
---|---|
basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
integral component of plasma membrane | The component of the plasma 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. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
Name | Definition |
---|---|
ABC-type bile acid transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: bile acid(in) + ATP + H2O -> bile acid(out) + ADP + phosphate. |
ABC-type glutathione S-conjugate transporter activity | Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out). |
ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
ABC-type xenobiotic transporter activity | Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out). |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATPase-coupled inorganic anion transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). |
ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. |
glucuronoside transmembrane transporter activity | Enables the transfer of a glucuronosides from one side of a membrane to the other. Glucuronosides are any compound formed by combination of glycosidic linkage of a hydroxy compound (e.g. an alcohol or a saccharide) with the anomeric carbon atom of glucuronate. |
icosanoid transmembrane transporter activity | Enables the transfer of icosanoids from one side of a membrane to the other. |
xenobiotic transmembrane transporter activity | Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
7 GO annotations of biological process
Name | Definition |
---|---|
bile acid and bile salt transport | The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
leukotriene transport | The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups. |
transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
xenobiotic transmembrane transport | The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
xenobiotic transport | The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
25 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P14772 | BPT1 | Bile pigment transporter 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
Q8HXQ5 | ABCC1 | Multidrug resistance-associated protein 1 | Bos taurus (Bovine) | PR |
Q2QLE5 | CFTR | Cystic fibrosis transmembrane conductance regulator | Pan troglodytes (Chimpanzee) | PR |
P91660 | Rh5 | Probable multidrug resistance-associated protein lethal(2)03659 | Drosophila melanogaster (Fruit fly) | PR |
O95255 | ABCC6 | ATP-binding cassette sub-family C member 6 | Homo sapiens (Human) | PR |
Q92887 | ABCC2 | ATP-binding cassette sub-family C member 2 | Homo sapiens (Human) | SS |
P33527 | ABCC1 | Multidrug resistance-associated protein 1 | Homo sapiens (Human) | PR |
Q96J66 | ABCC11 | ATP-binding cassette sub-family C member 11 | Homo sapiens (Human) | PR |
P13569 | CFTR | Cystic fibrosis transmembrane conductance regulator | Homo sapiens (Human) | PR |
O15439 | ABCC4 | ATP-binding cassette sub-family C member 4 | Homo sapiens (Human) | PR |
P26361 | Cftr | Cystic fibrosis transmembrane conductance regulator | Mus musculus (Mouse) | PR |
Q80WJ6 | Abcc12 | ATP-binding cassette sub-family C member 12 | Mus musculus (Mouse) | PR |
O35379 | Abcc1 | Multidrug resistance-associated protein 1 | Mus musculus (Mouse) | PR |
Q8VI47 | Abcc2 | ATP-binding cassette sub-family C member 2 | Mus musculus (Mouse) | SS |
B2RX12 | Abcc3 | ATP-binding cassette sub-family C member 3 | Mus musculus (Mouse) | PR |
Q6PQZ2 | CFTR | Cystic fibrosis transmembrane conductance regulator | Sus scrofa (Pig) | PR |
Q6Y306 | Abcc12 | ATP-binding cassette sub-family C member 12 | Rattus norvegicus (Rat) | PR |
Q8CG09 | Abcc1 | Multidrug resistance-associated protein 1 | Rattus norvegicus (Rat) | PR |
Q63120 | Abcc2 | ATP-binding cassette sub-family C member 2 | Rattus norvegicus (Rat) | EV |
Q00553 | CFTR | Cystic fibrosis transmembrane conductance regulator | Macaca mulatta (Rhesus macaque) | PR |
Q9SKX0 | ABCC13 | ABC transporter C family member 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8VZZ4 | ABCC6 | ABC transporter C family member 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9M1C7 | ABCC9 | ABC transporter C family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9C8G9 | ABCC1 | ABC transporter C family member 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9C8H0 | ABCC12 | ABC transporter C family member 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MDALCGSGEL | GSKFWDSNLS | VHTENPDLTP | CFQNSLLAWV | PCIYLWVALP | CYLLYLRHHC |
70 | 80 | 90 | 100 | 110 | 120 |
RGYIILSHLS | KLKMVLGVLL | WCVSWADLFY | SFHGLVHGRA | PAPVFFVTPL | VVGVTMLLAT |
130 | 140 | 150 | 160 | 170 | 180 |
LLIQYERLQG | VQSSGVLIIF | WFLCVVCAIV | PFRSKILLAK | AEGEISDPFR | FTTFYIHFAL |
190 | 200 | 210 | 220 | 230 | 240 |
VLSALILACF | REKPPFFSAK | NVDPNPYPET | SAGFLSRLFF | WWFTKMAIYG | YRHPLEEKDL |
250 | 260 | 270 | 280 | 290 | 300 |
WSLKEEDRSQ | MVVQQLLEAW | RKQEKQTARH | KASAAPGKNA | SGEDEVLLGA | RPRPRKPSFL |
310 | 320 | 330 | 340 | 350 | 360 |
KALLATFGSS | FLISACFKLI | QDLLSFINPQ | LLSILIRFIS | NPMAPSWWGF | LVAGLMFLCS |
370 | 380 | 390 | 400 | 410 | 420 |
MMQSLILQHY | YHYIFVTGVK | FRTGIMGVIY | RKALVITNSV | KRASTVGEIV | NLMSVDAQRF |
430 | 440 | 450 | 460 | 470 | 480 |
MDLAPFLNLL | WSAPLQIILA | IYFLWQNLGP | SVLAGVAFMV | LLIPLNGAVA | VKMRAFQVKQ |
490 | 500 | 510 | 520 | 530 | 540 |
MKLKDSRIKL | MSEILNGIKV | LKLYAWEPSF | LKQVEGIRQG | ELQLLRTAAY | LHTTTTFTWM |
550 | 560 | 570 | 580 | 590 | 600 |
CSPFLVTLIT | LWVYVYVDPN | NVLDAEKAFV | SVSLFNILRL | PLNMLPQLIS | NLTQASVSLK |
610 | 620 | 630 | 640 | 650 | 660 |
RIQQFLSQEE | LDPQSVERKT | ISPGYAITIH | SGTFTWAQDL | PPTLHSLDIQ | VPKGALVAVV |
670 | 680 | 690 | 700 | 710 | 720 |
GPVGCGKSSL | VSALLGEMEK | LEGKVHMKGS | VAYVPQQAWI | QNCTLQENVL | FGKALNPKRY |
730 | 740 | 750 | 760 | 770 | 780 |
QQTLEACALL | ADLEMLPGGD | QTEIGEKGIN | LSGGQRQRVS | LARAVYSDAD | IFLLDDPLSA |
790 | 800 | 810 | 820 | 830 | 840 |
VDSHVAKHIF | DHVIGPEGVL | AGKTRVLVTH | GISFLPQTDF | IIVLADGQVS | EMGPYPALLQ |
850 | 860 | 870 | 880 | 890 | 900 |
RNGSFANFLC | NYAPDEDQGH | LEDSWTALEG | AEDKEALLIE | DTLSNHTDLT | DNDPVTYVVQ |
910 | 920 | 930 | 940 | 950 | 960 |
KQFMRQLSAL | SSDGEGQGRP | VPRRHLGPSE | KVQVTEAKAD | GALTQEEKAA | IGTVELSVFW |
970 | 980 | 990 | 1000 | 1010 | 1020 |
DYAKAVGLCT | TLAICLLYVG | QSAAAIGANV | WLSAWTNDAM | ADSRQNNTSL | RLGVYAALGI |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
LQGFLVMLAA | MAMAAGGIQA | ARVLHQALLH | NKIRSPQSFF | DTTPSGRILN | CFSKDIYVVD |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
EVLAPVILML | LNSFFNAIST | LVVIMASTPL | FTVVILPLAV | LYTLVQRFYA | ATSRQLKRLE |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
SVSRSPIYSH | FSETVTGASV | IRAYNRSRDF | EIISDTKVDA | NQRSCYPYII | SNRWLSIGVE |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
FVGNCVVLFA | ALFAVIGRSS | LNPGLVGLSV | SYSLQVTFAL | NWMIRMMSDL | ESNIVAVERV |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
KEYSKTETEA | PWVVEGSRPP | EGWPPRGEVE | FRNYSVRYRP | GLDLVLRDLS | LHVHGGEKVG |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
IVGRTGAGKS | SMTLCLFRIL | EAAKGEIRID | GLNVADIGLH | DLRSQLTIIP | QDPILFSGTL |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
RMNLDPFGSY | SEEDIWWALE | LSHLHTFVSS | QPAGLDFQCS | EGGENLSVGQ | RQLVCLARAL |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
LRKSRILVLD | EATAAIDLET | DNLIQATIRT | QFDTCTVLTI | AHRLNTIMDY | TRVLVLDKGV |
1510 | 1520 | ||||
VAEFDSPANL | IAARGIFYGM | ARDAGLA |