O60330
PR
Gene name |
PCDHGA12 (CDH21, FIB3, KIAA0588, UNQ371/PRO707) |
Protein name |
Protocadherin gamma-A12 |
Names |
PCDH-gamma-A12, Cadherin-21, Fibroblast cadherin-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26025 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O60330
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60330-F1 | Predicted | AlphaFoldDB |
894 variants for O60330
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs375524585 CA128415808 |
5 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375524585 CA128415805 |
5 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476654 rs375524585 |
5 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs938151988 CA128415811 |
6 | L>R | No |
ClinGen Ensembl |
|
|
CA361570636 rs1220976669 |
8 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361570626 rs1220976669 |
8 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs559701152 CA128415814 |
8 | R>W | No |
ClinGen gnomAD |
|
|
CA128415817 rs992448490 |
9 | D>E | No |
ClinGen TOPMed |
|
|
rs1347347402 CA361570742 |
13 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs770490590 CA3476655 |
14 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3476656 rs562479827 |
15 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949727881 CA128415827 |
17 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361570824 rs1591007458 |
18 | I>M | No |
ClinGen Ensembl |
|
|
CA361570809 rs1193066300 |
18 | I>V | No |
ClinGen gnomAD |
|
|
rs138641753 CA3476657 |
19 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361570853 rs1240970813 |
20 | L>R | No |
ClinGen TOPMed |
|
|
rs1194897001 CA361570858 |
21 | G>R | No |
ClinGen gnomAD |
|
|
rs754181300 CA3476663 |
24 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476662 rs763916884 |
24 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA361570926 CA361570929 rs1317415848 |
25 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1398773861 CA361570916 |
25 | E>K | No |
ClinGen gnomAD |
|
|
rs866767896 CA128415845 CA361570938 |
27 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3476664 rs757539834 |
28 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs935750449 CA128415850 |
28 | C>Y | No |
ClinGen TOPMed |
|
|
CA3476665 rs779183487 |
29 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758463111 CA3476667 |
30 | Q>K | No |
ClinGen ExAC |
|
|
CA3476668 rs780445178 |
30 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361570975 rs1204872595 |
31 | I>L | No |
ClinGen gnomAD |
|
|
rs747489426 CA3476669 |
31 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769009864 CA3476670 |
32 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476671 rs140440273 |
32 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748992376 CA3476672 |
33 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476674 rs773955533 |
34 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3476673 rs770543752 |
34 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3476675 rs758993148 |
35 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361571016 rs1365140768 |
35 | V>I | No |
ClinGen gnomAD |
|
|
CA361571049 rs1414256124 |
37 | E>K | No |
ClinGen gnomAD |
|
|
rs1462942281 CA361571072 |
38 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1323872183 CA361571106 |
39 | L>Q | No |
ClinGen gnomAD |
|
|
rs1392342627 CA361571112 |
40 | E>K | No |
ClinGen TOPMed |
|
|
rs1017679903 CA128415870 |
42 | G>V | No |
ClinGen TOPMed |
|
|
rs775296800 CA3476677 |
46 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476678 rs373775073 |
48 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776543955 CA3476680 |
50 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs544678317 CA3476681 |
51 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361571330 rs544678317 |
51 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3476682 rs544678317 |
51 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361571342 rs1485488693 |
52 | L>M | No |
ClinGen gnomAD |
|
|
CA361571351 rs750607631 |
52 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476683 rs750607631 |
52 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476684 rs758417744 |
53 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs377613499 CA361571382 |
54 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377613499 CA3476686 |
54 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361571419 rs1313621122 |
56 | P>A | No |
ClinGen TOPMed |
|
|
rs145535410 CA3476687 |
56 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 57 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180723310 CA361571433 |
57 | R>W | No |
ClinGen gnomAD |
|
|
rs781580216 CA3476688 |
58 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476091955 CA361571456 |
59 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748546768 CA3476689 |
59 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs888990395 CA128415901 |
60 | A>P | No |
ClinGen TOPMed |
|
|
rs888990395 CA361571469 |
60 | A>T | No |
ClinGen TOPMed |
|
|
CA361571506 rs1417018095 |
62 | R>P | No |
ClinGen gnomAD |
|
|
CA361571527 rs1169662602 |
63 | G>V | No |
ClinGen gnomAD |
|
|
rs756423770 CA361571541 |
64 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476691 rs756423770 |
64 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476690 rs756423770 |
64 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413279321 CA361571582 |
67 | I>V | No |
ClinGen gnomAD |
|
|
rs547574367 CA3476694 |
69 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3476695 rs746992307 |
70 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA128415918 rs1026736997 |
71 | R>G | No |
ClinGen Ensembl |
|
|
rs1561848674 CA917596141 |
71 | R>V | No |
ClinGen Ensembl |
|
|
CA3476699 rs141488923 |
72 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761722055 CA3476701 |
73 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370494413 CA128415926 |
74 | L>I | No |
ClinGen ESP TOPMed |
|
|
CA3476702 CA361571760 rs765063685 |
75 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549700048 CA361571770 |
76 | A>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3476703 rs773308629 |
76 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs549700048 CA128415932 |
76 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA361571800 rs1223969128 |
78 | N>S | No |
ClinGen TOPMed |
|
|
CA361571849 rs1272572092 |
81 | S>C | No |
ClinGen TOPMed |
|
|
CA361571850 rs1272572092 |
81 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 81 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1055964066 CA128415935 |
81 | S>R | No |
ClinGen TOPMed |
|
|
CA3476704 rs569594120 |
82 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361571901 rs1195316502 |
83 | S>G | No |
ClinGen gnomAD |
|
|
CA3476705 rs149559471 |
83 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144203659 CA3476706 |
84 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361571952 rs755015257 |
86 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs755015257 CA3476707 |
86 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368671750 CA361571984 |
87 | A>V | No |
ClinGen TOPMed |
|
|
rs367575636 CA3476711 |
90 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756476818 CA3476710 |
90 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006751011 CA128415952 |
92 | R>G | No |
ClinGen TOPMed |
|
|
CA3476712 rs372312860 |
92 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1006751011 CA361572072 |
92 | R>W | No |
ClinGen TOPMed |
|
|
CA361572102 rs1380969440 |
93 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs79193223 CA128415957 |
94 | E>G | No |
ClinGen Ensembl |
|
|
CA361572146 rs1324139757 |
96 | C>Y | No |
ClinGen gnomAD |
|
|
CA361572183 rs1226000576 |
97 | M>T | No |
ClinGen gnomAD |
|
|
rs148326556 CA3476714 |
98 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361572203 rs1280440001 |
98 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs148326556 CA3476713 |
98 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1267741621 CA361572220 |
99 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532584174 CA3476715 |
99 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 100 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776721321 CA3476718 |
109 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361572528 rs1467292193 |
110 | M>L | No |
ClinGen TOPMed |
|
|
rs143083513 CA3476719 |
110 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329728532 CA361572585 |
111 | E>D | No |
ClinGen Ensembl |
|
|
CA361572667 rs1236908671 |
115 | K>Q | No |
ClinGen gnomAD |
|
|
CA3476720 rs769542343 |
115 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs566174531 CA3476721 |
116 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1561849765 CA361572760 |
118 | G>V | No |
ClinGen Ensembl |
|
|
CA361572820 rs1173306822 |
119 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3476723 rs147514897 |
120 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455709617 CA361572926 |
123 | V>A | No |
ClinGen gnomAD |
|
|
CA3476725 rs771219303 |
124 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476727 rs140069213 |
126 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140069213 CA3476726 |
126 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361573043 rs145692116 |
127 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1262504427 CA361573051 |
128 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1262504427 CA361573048 |
128 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1303502732 CA361573097 |
130 | A>T | No |
ClinGen gnomAD |
|
|
COSM346248 COSM346247 CA3476728 rs767521224 |
130 | A>V | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764416448 CA3476731 |
131 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361573156 rs764416448 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007532359 CA128415991 |
131 | P>T | No |
ClinGen TOPMed |
|
|
CA3476732 rs754200786 |
132 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258752203 CA361573225 |
134 | R>P | No |
ClinGen gnomAD |
|
|
CA128415998 rs1017606383 |
134 | R>S | No |
ClinGen TOPMed |
|
|
rs757521794 CA3476733 |
135 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779651957 CA128416003 |
136 | S>R | No |
ClinGen Ensembl |
|
|
CA3476734 rs779778442 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476735 rs568632160 |
139 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754537015 CA3476736 |
142 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA361573488 rs1467232519 |
142 | I>V | No |
ClinGen gnomAD |
|
|
rs1421124374 CA361573518 |
143 | S>G | No |
ClinGen gnomAD |
|
|
rs748150837 CA3476738 |
143 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363655439 CA361573548 |
144 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3476739 rs769745353 |
145 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476740 rs777535962 |
146 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA361573664 rs1438031040 |
149 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1054638121 CA128416018 |
151 | R>P | No |
ClinGen TOPMed |
|
|
rs1054638121 CA361573718 |
151 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361573761 rs1225114172 |
152 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA128416020 rs375228847 |
154 | L>V | No |
ClinGen ESP TOPMed |
|
|
CA3476743 rs774563598 |
156 | H>D | No |
ClinGen ExAC TOPMed |
|
|
CA3476744 rs759752051 |
156 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361573859 rs774563598 |
156 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA3476745 rs772199359 |
157 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370286425 CA3476746 |
159 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233801398 CA361574020 |
160 | P>L | No |
ClinGen gnomAD |
|
|
CA361574022 rs1402814836 |
161 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761126985 CA361574083 |
162 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476748 rs764692908 |
163 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554123268 CA3476749 |
165 | N>S | No |
ClinGen Ensembl |
|
|
rs754250241 CA3476751 |
167 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751320023 CA3476754 |
168 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476753 rs371663018 |
168 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3476755 rs369791160 |
170 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424803604 CA361574370 |
170 | Y>C | No |
ClinGen gnomAD |
|
|
rs369177310 CA3476756 |
171 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752219345 CA3476757 |
172 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476759 rs755533628 |
173 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361574445 rs1163372308 |
174 | P>A | No |
ClinGen gnomAD |
|
|
rs200375087 CA128416046 |
181 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749116196 CA3476761 |
182 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3476760 rs777784010 |
182 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777784010 CA361574646 |
182 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770828917 CA3476762 |
183 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs770828917 CA361574676 |
183 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1332508283 CA361574682 |
183 | Q>R | No |
ClinGen gnomAD |
|
|
CA361574725 rs1232672788 |
186 | A>T | No |
ClinGen gnomAD |
|
|
CA128416055 rs993831541 |
187 | D>E | No |
ClinGen gnomAD |
|
|
CA361574734 rs1309389474 |
187 | D>N | No |
ClinGen gnomAD |
|
|
rs112186927 CA3476764 |
188 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112186927 CA128416058 |
188 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361574795 rs1486136293 |
189 | S>R | No |
ClinGen gnomAD |
|
|
CA3476765 rs772252181 |
189 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA361574819 rs1267965791 |
190 | K>N | No |
ClinGen TOPMed |
|
|
rs1190445239 CA361574849 |
191 | Y>F | No |
ClinGen gnomAD |
|
|
CA361574877 rs775651426 |
192 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3476766 rs775651426 |
192 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1412811147 CA361574891 |
193 | E>A | No |
ClinGen TOPMed |
|
|
CA361574886 rs1187672228 |
193 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1374646530 CA361574896 |
194 | L>M | No |
ClinGen TOPMed |
|
|
rs1411192998 CA361575073 |
198 | R>C | No |
ClinGen gnomAD |
|
|
rs777198567 CA3476770 |
199 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777198567 CA361575090 |
199 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476771 rs762220618 |
200 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361575137 rs1434955829 |
201 | D>G | No |
ClinGen gnomAD |
|
|
rs765751691 CA3476772 |
202 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3476773 rs773688069 |
202 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473172175 CA361575160 |
203 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1561851775 CA361575275 |
205 | K>N | No |
ClinGen Ensembl |
|
|
CA3476775 rs139873616 |
206 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558222633 CA3476776 |
206 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1212833348 CA361575364 |
207 | A>V | No |
ClinGen gnomAD |
|
|
rs1348785166 CA361575367 |
208 | H>Y | No |
ClinGen gnomAD |
|
|
CA361575475 rs1485575362 |
212 | L>F | No |
ClinGen gnomAD |
|
|
rs763511330 CA3476779 |
213 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3476780 rs753872678 |
216 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM353340 CA3476781 rs146734417 COSM353339 |
217 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1270461546 CA361575621 |
217 | G>W | No |
ClinGen TOPMed |
|
|
rs1458036274 CA361575648 |
218 | G>D | No |
ClinGen gnomAD |
|
|
CA361575715 rs778722151 |
219 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184197093 CA361575672 |
219 | D>N | No |
ClinGen gnomAD |
|
|
rs571505529 CA3476783 |
220 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868008554 CA128416104 |
220 | P>S | No |
ClinGen gnomAD |
|
|
rs780266425 CA128416112 |
221 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476785 rs780266425 |
221 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747132868 CA3476786 |
222 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868299769 CA128416115 |
222 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3476787 rs768847018 |
223 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA361575821 rs1269666597 |
223 | T>R | No |
ClinGen gnomAD |
|
|
rs376827063 CA361575861 |
226 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3476789 rs376827063 |
226 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773812765 CA3476791 |
227 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776737236 CA128416128 |
227 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361575886 rs773812765 |
227 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763426491 CA3476792 |
228 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1328476453 CA361575932 |
229 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs978782104 CA128416130 |
229 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3476794 rs775284049 |
230 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766784928 CA3476793 |
230 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361575947 rs766784928 |
230 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925541311 CA128416134 |
231 | M>I | No |
ClinGen TOPMed |
|
|
CA361575975 rs1468567743 |
231 | M>L | No |
ClinGen gnomAD |
|
|
CA3476795 rs201704748 |
232 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128416139 rs761879594 |
234 | D>A | No |
ClinGen gnomAD |
|
|
CA361576042 rs761879594 |
234 | D>V | No |
ClinGen gnomAD |
|
|
rs1418195492 CA361576033 |
234 | D>Y | No |
ClinGen gnomAD |
|
|
rs139195027 CA3476796 |
235 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3476797 rs753256077 |
236 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476798 rs756718016 |
237 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA361576083 rs756718016 |
237 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765182771 CA3476799 |
238 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3476802 CA3476800 rs750300971 |
238 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561852927 CA361576123 |
238 | N>S | No |
ClinGen Ensembl |
|
|
COSM205252 COSM205251 rs747313827 CA3476803 |
239 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1163422580 CA361576177 |
240 | P>L | No |
ClinGen gnomAD |
|
|
rs755130135 CA3476804 |
240 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361576186 rs1370450155 |
241 | A>S | No |
ClinGen gnomAD |
|
|
CA361576266 rs1281626711 |
245 | P>R | No |
ClinGen gnomAD |
|
|
rs1223687647 CA361576286 |
246 | E>A | No |
ClinGen gnomAD |
|
|
rs557611439 CA128416155 |
246 | E>K | No |
ClinGen Ensembl |
|
|
rs1274311782 CA361576301 |
247 | Y>H | No |
ClinGen gnomAD |
|
|
CA3476809 rs749812839 |
248 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3476810 rs774545870 |
250 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234369765 CA361576365 |
251 | V>G | No |
ClinGen gnomAD |
|
|
CA361576357 rs1182148013 |
251 | V>L | No |
ClinGen gnomAD |
|
|
rs760416874 CA3476812 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1468442248 CA361576367 |
252 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941913367 CA128416164 |
253 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs374095590 CA3476813 |
255 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128416166 rs1055145334 |
255 | L>V | No |
ClinGen Ensembl |
|
|
CA361576412 rs1390184616 |
256 | A>T | No |
ClinGen gnomAD |
|
|
CA3476814 rs145601545 |
257 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3476815 rs145601545 |
257 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361576446 rs1331176313 |
259 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361576479 rs1334234544 |
262 | L>F | No |
ClinGen gnomAD |
|
|
CA361576485 rs1409551731 |
262 | L>P | No |
ClinGen gnomAD |
|
|
CA3476816 rs764658508 |
263 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750427346 CA3476817 |
264 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3476818 rs762863300 |
265 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3476819 rs766242338 |
265 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA361576535 rs1561853752 |
266 | A>G | No |
ClinGen Ensembl |
|
|
CA128416178 rs543209695 |
268 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1407774111 CA361576613 |
270 | D>E | No |
ClinGen TOPMed |
|
|
CA3476823 rs781289120 |
271 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476822 rs754760314 |
271 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361576620 rs781289120 |
271 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476824 rs563283218 |
272 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1476143491 CA361576636 |
272 | G>V | No |
ClinGen gnomAD |
|
|
CA361576658 rs777990962 |
274 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749863807 CA3476827 |
274 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3476826 rs777990962 |
274 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476828 rs771534481 |
275 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361576703 rs1429358254 |
278 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA128416185 rs999687684 |
280 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746243366 CA3476830 |
282 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361576815 rs1413448116 |
283 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3476831 rs377367120 |
285 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79883194 CA361576833 |
285 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs79883194 CA128416188 |
285 | D>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3476832 rs776151297 |
286 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1231591874 CA361576851 |
286 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1231591874 CA361576852 |
286 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3476833 rs761448407 |
288 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM590086 CA3476834 COSM590085 rs769351473 |
290 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361576964 rs1280755615 |
290 | Q>H | No |
ClinGen gnomAD |
|
|
CA361576945 rs1204083567 |
290 | Q>P | No |
ClinGen gnomAD |
|
|
rs1208504589 CA361577000 |
291 | V>A | No |
ClinGen gnomAD |
|
|
rs1486554010 CA361576980 |
291 | V>L | No |
ClinGen gnomAD |
|
|
CA361577038 rs1255326344 |
293 | K>E | No |
ClinGen gnomAD |
|
|
CA3476837 rs528599572 |
295 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3476836 rs762914489 |
295 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3476838 rs199998405 |
299 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1283381348 CA361577202 |
300 | T>I | No |
ClinGen TOPMed |
|
|
CA3476839 rs759257105 |
303 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767342240 CA3476840 |
304 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3476841 rs753030509 |
305 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778040824 CA3476843 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3476845 rs537684458 |
307 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1017231854 CA128416204 |
309 | H>N | No |
ClinGen Ensembl |
|
|
rs779303462 CA3476846 |
313 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1303639699 CA361577618 |
313 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361577661 rs1349630251 |
315 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1249423969 CA361577762 |
317 | M>I | No |
ClinGen gnomAD |
|
|
CA361577743 rs1561854893 |
317 | M>R | No |
ClinGen Ensembl |
|
|
rs746318177 CA3476847 |
319 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758754345 CA3476848 |
322 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758754345 CA361577845 |
322 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3476850 rs371020840 |
330 | R>* | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361578033 rs371020840 |
330 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759671844 CA3476851 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022595230 CA128416213 |
333 | V>A | No |
ClinGen TOPMed |
|
|
CA361578179 rs1474420822 |
336 | T>I | No |
ClinGen TOPMed |
|
|
rs112978142 CA128416215 |
337 | V>I | No |
ClinGen Ensembl |
|
|
CA3476855 rs376049183 |
338 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3476854 rs376049183 |
338 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1175712662 CA361578205 |
338 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3476856 rs151011884 |
340 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128416220 rs767269112 |
341 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486545769 CA361578296 |
341 | N>Y | No |
ClinGen TOPMed |
|
|
rs1210499024 CA361578323 |
342 | D>V | No |
ClinGen TOPMed |
|
|
rs775397713 CA3476858 |
343 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs760507500 CA3476859 |
344 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3476860 rs764434052 |
345 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3476861 rs754056771 |
346 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361578589 rs1300319049 |
352 | L>P | No |
ClinGen gnomAD |
|
|
rs1561855547 CA361578656 |
355 | S>* | No |
ClinGen Ensembl |
|
|
CA3476865 rs1554123924 |
356 | V>A | No |
ClinGen Ensembl |
|
|
rs918986511 CA128416228 |
356 | V>I | No |
ClinGen TOPMed |
|
|
rs750949066 CA3476868 |
357 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs758915768 COSM314003 CA3476869 COSM314004 |
357 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1433790348 CA361578713 |
358 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780436102 CA3476870 |
363 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA361578943 rs1421209596 |
367 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1421209596 CA361578935 |
367 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3476872 rs755283039 |
370 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3476874 rs748968989 |
375 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188593546 CA361579142 |
376 | S>C | No |
ClinGen TOPMed |
|
|
rs539719239 CA3476875 |
377 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361579211 rs1456048000 |
378 | E>G | No |
ClinGen gnomAD |
|
|
rs983317324 CA128416237 |
378 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1292629023 CA361579260 |
379 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361579268 rs1591112104 |
380 | G>R | No |
ClinGen Ensembl |
|
|
rs1373642371 CA361579282 |
381 | Q>R | No |
ClinGen gnomAD |
|
|
CA3476876 rs773893751 |
382 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs745837291 CA3476877 |
385 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1063340 COSM1063341 rs775520324 CA3476879 |
388 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361579497 rs1275109387 |
389 | N>D | No |
ClinGen gnomAD |
|
|
rs761060241 CA3476880 |
391 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361579603 rs1377573207 |
394 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1284808063 CA361579621 |
395 | E>K | No |
ClinGen Ensembl |
|
|
CA128416247 rs912037044 |
399 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765281339 CA361579800 |
402 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128416250 CA361579817 rs571981127 |
403 | S>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs750484866 CA3476886 |
405 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361579901 rs1421497518 |
407 | D>G | No |
ClinGen gnomAD |
|
|
rs949361004 CA128416253 |
408 | I>V | No |
ClinGen Ensembl |
|
|
rs1354693325 CA361579949 |
409 | V>D | No |
ClinGen gnomAD |
|
|
CA3476888 rs758365921 |
409 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA128416256 rs1046547219 |
411 | D>V | No |
ClinGen TOPMed |
|
|
rs766891220 CA3476889 |
413 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755338230 CA361580167 |
414 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3476892 rs781525225 |
415 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs138689793 CA3476893 |
416 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361580207 rs1376914747 |
417 | S>C | No |
ClinGen gnomAD |
|
|
rs1227754190 CA361580220 |
417 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361580211 rs1227754190 |
417 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756906117 CA3476894 |
418 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1063343 COSM1063342 rs778393699 CA3476895 |
419 | N>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361580275 rs778393699 |
419 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476896 rs745405194 |
419 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3476898 rs372826902 |
420 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3476899 rs746940912 |
421 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361580405 rs1591124077 |
423 | T>P | No |
ClinGen Ensembl |
|
|
CA3476903 rs202246871 |
427 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA3476902 rs202246871 |
427 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed |
|
CA3476905 rs763104309 |
428 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476904 rs773254891 |
428 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1591125903 CA361580488 |
429 | T>P | No |
ClinGen Ensembl |
|
|
rs878896624 CA128416270 |
429 | T>S | No |
ClinGen Ensembl |
|
|
rs1591127547 CA361580554 |
433 | S>P | No |
ClinGen Ensembl |
|
|
rs752124614 CA3476907 |
434 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476909 rs760017836 |
434 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs760017836 CA3476908 |
434 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289513674 CA361580620 |
435 | E>V | No |
ClinGen gnomAD |
|
|
rs764482722 CA3476911 |
436 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147057088 CA3476910 |
436 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361580664 rs1297096209 |
437 | H>D | No |
ClinGen gnomAD |
|
|
CA3476912 rs572724741 |
437 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236871982 CA361580697 |
438 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749977977 CA3476913 |
440 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs376415955 CA128416280 |
441 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372151428 CA361580804 |
442 | V>E | No |
ClinGen TOPMed |
|
|
rs1221754474 CA361580798 |
442 | V>L | No |
ClinGen TOPMed |
|
|
CA3476917 rs768682551 |
443 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA128416284 rs1012790217 |
443 | A>V | No |
ClinGen TOPMed |
|
|
rs370491149 CA3476920 |
444 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325165974 CA361580851 |
444 | D>N | No |
ClinGen TOPMed |
|
|
CA3476922 rs773484841 |
445 | T>A | No |
ClinGen ExAC |
|
|
CA361580898 rs773484841 |
445 | T>P | No |
ClinGen ExAC |
|
|
rs763154183 CA3476923 |
446 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476924 rs771050429 |
447 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774386438 CA3476925 |
448 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA128416293 rs199724525 |
449 | P>A | No |
ClinGen 1000Genomes |
|
|
rs374200575 CA361581013 |
449 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374200575 CA128416295 |
449 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361581055 rs1432933024 |
450 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768038692 CA3476927 |
451 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3476928 rs753088299 |
452 | F>L | No |
ClinGen ExAC |
|
|
rs1174697940 CA361581079 |
452 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761106133 CA3476929 |
453 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761106133 CA361581109 |
453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4141511 rs761106133 COSM4141512 CA361581107 |
453 | P>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361581123 rs1273427353 |
454 | Q>* | No |
ClinGen gnomAD |
|
|
CA361581129 rs764363553 |
454 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764363553 CA3476930 |
454 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224794803 CA361581151 |
455 | A>G | No |
ClinGen gnomAD |
|
|
rs750150518 CA3476931 |
456 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476932 rs758099753 |
457 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950514553 CA361581262 |
460 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA128416307 rs950537869 |
464 | N>S | No |
ClinGen TOPMed |
|
|
rs1177596709 CA361581402 |
465 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3476937 rs368480052 |
466 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387036035 CA361581440 |
467 | R>G | No |
ClinGen TOPMed |
|
|
COSM136501 COSM136502 rs781198519 CA3476938 |
468 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA128416312 rs559707772 |
470 | S>A | No |
ClinGen Ensembl |
|
|
CA3476939 rs747966355 |
470 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1286991812 CA361581537 |
471 | L>F | No |
ClinGen TOPMed |
|
|
rs114326665 CA3476940 |
471 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771177256 CA3476943 |
472 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1561858566 CA361581582 |
473 | S>C | No |
ClinGen Ensembl |
|
|
rs943491593 CA128416317 |
474 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361581632 rs376661062 |
476 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3476946 rs376661062 |
476 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228384684 CA361581662 |
477 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1561858720 CA361581687 |
478 | D>N | No |
ClinGen Ensembl |
|
|
rs1334965321 CA361581726 |
479 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1334965321 CA361581730 |
479 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776132438 CA3476949 |
480 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761075658 CA3476950 |
481 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361581785 rs1204867610 |
482 | E>G | No |
ClinGen gnomAD |
|
|
CA361581776 rs1282888078 |
482 | E>K | No |
ClinGen TOPMed |
|
|
CA3476952 rs551220443 |
483 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361581802 rs1181424938 |
483 | E>G | No |
ClinGen gnomAD |
|
|
CA361581797 rs551220443 |
483 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473794319 CA361581808 |
484 | N>H | No |
ClinGen gnomAD |
|
|
CA361581831 rs1390215329 |
484 | N>K | No |
ClinGen gnomAD |
|
|
CA3476954 rs766151180 |
484 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410807531 CA361581847 |
485 | A>D | No |
ClinGen gnomAD |
|
|
rs570925415 CA3476955 |
487 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1327611752 CA361581876 |
487 | I>N | No |
ClinGen TOPMed |
|
|
CA3476956 rs754536860 |
488 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293391901 CA361581902 |
489 | Y>N | No |
ClinGen TOPMed |
|
|
rs1046414550 CA128416329 |
490 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 491 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213112778 CA361581940 |
491 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1314450121 CA361581953 |
492 | A>T | No |
ClinGen TOPMed |
|
|
rs752735346 CA3476958 |
493 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361583443 rs1591156306 |
495 | T>P | No |
ClinGen Ensembl |
|
|
CA361583453 rs1168649993 |
495 | T>S | No |
ClinGen TOPMed |
|
|
rs139910620 CA3476959 |
496 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3476961 rs749107567 |
498 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749107567 CA361583522 |
498 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935437220 CA361583541 |
499 | A>S | No |
ClinGen TOPMed |
|
|
rs935437220 CA128416335 |
499 | A>T | No |
ClinGen TOPMed |
|
|
CA361583553 rs1561859576 |
499 | A>V | No |
ClinGen Ensembl |
|
|
CA361583599 rs1260137300 |
501 | L>P | No |
ClinGen TOPMed |
|
|
rs746089276 CA3476964 |
503 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1444077446 CA361583617 |
503 | S>T | No |
ClinGen gnomAD |
|
|
rs1345530974 CA361583648 |
504 | Y>* | No |
ClinGen Ensembl |
|
|
rs1186240180 CA361583645 |
504 | Y>F | No |
ClinGen TOPMed |
|
|
CA128416340 rs199937628 |
505 | V>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3476965 rs772255343 |
505 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361583650 rs772255343 |
505 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476967 rs747589363 |
506 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3476966 rs775413198 |
506 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs923930127 CA128416344 |
507 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361583705 rs1313887209 |
508 | N>H | No |
ClinGen gnomAD |
|
|
CA3476968 rs143317584 |
508 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762278053 CA3476970 |
510 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3476969 rs189131107 |
510 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361583751 rs1335382584 |
511 | T>S | No |
ClinGen TOPMed |
|
|
CA3476971 rs765631138 |
512 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1339659774 CA361583809 |
513 | V>A | No |
ClinGen gnomAD |
|
|
CA128416351 rs895669878 |
513 | V>I | No |
ClinGen TOPMed |
|
|
CA361583827 rs1280788604 |
514 | L>R | No |
ClinGen gnomAD |
|
|
rs759095332 CA3476973 |
516 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361583901 rs1354510383 |
518 | S>N | No |
ClinGen TOPMed |
|
|
rs1215219866 CA361583999 |
521 | D>G | No |
ClinGen Ensembl |
|
|
rs369088426 CA3476974 |
521 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
CA361584036 rs1452737362 |
522 | Y>C | No |
ClinGen gnomAD |
|
|
CA361584018 rs1198710959 |
522 | Y>H | No |
ClinGen gnomAD |
|
|
rs760184218 CA3476978 |
524 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361584132 rs1420674074 |
525 | F>L | No |
ClinGen TOPMed |
|
|
rs1190624035 CA361584123 |
525 | F>V | No |
ClinGen gnomAD |
|
|
rs146691720 CA3476980 |
526 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361584150 rs1449100367 |
527 | D>G | No |
ClinGen gnomAD |
|
|
rs1561860448 CA361584143 |
527 | D>H | No |
ClinGen Ensembl |
|
|
CA361584179 rs1174646711 |
528 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs534356534 CA3476981 |
529 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3476983 rs750696244 |
533 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3476982 rs778669079 |
533 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA361584417 rs1561860587 |
536 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 536 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3476984 rs758515649 |
537 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs373882091 CA3476985 |
537 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362496624 CA361584462 CA361584466 |
537 | N>K | No |
ClinGen gnomAD |
|
|
rs373882091 CA361584453 |
537 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747077639 CA3476986 |
538 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA128416364 rs879168075 |
539 | H>P | No |
ClinGen gnomAD |
|
|
CA128416366 COSM108710 rs147564249 COSM108711 |
540 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1332652972 CA361584535 |
541 | P>L | No |
ClinGen gnomAD |
|
|
rs1039960240 CA128416368 |
542 | L>F | No |
ClinGen Ensembl |
|
|
CA128416372 rs901445791 |
544 | S>R | No |
ClinGen Ensembl |
|
|
COSM1329025 COSM1329024 rs149830124 CA3476988 |
545 | N>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3476989 rs748660079 CA361584672 |
546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008664105 CA361584742 |
548 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1008664105 CA128416376 |
548 | L>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 549 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918556945 CA128416378 |
550 | L>P | No |
ClinGen Ensembl |
|
|
CA3476991 rs773688197 CA361584821 |
551 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs369816901 CA361584830 CA128416382 |
552 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 553 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030000451 CA128416384 |
553 | L>R | No |
ClinGen Ensembl |
|
|
rs1431760497 CA361584998 |
558 | N>S | No |
ClinGen gnomAD |
|
|
rs78612001 CA3476996 |
559 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160738044 CA361585039 |
560 | P>S | No |
ClinGen gnomAD |
|
|
rs761718852 CA3476998 |
561 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1324499660 CA361585083 |
562 | I>V | No |
ClinGen TOPMed |
|
|
CA3477000 rs750214310 |
563 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3477001 rs758159985 |
564 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3477002 rs780149710 |
565 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755079284 CA3477004 |
566 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361585190 rs1368524835 |
567 | L>F | No |
ClinGen gnomAD |
|
|
rs1230209932 CA361585193 |
567 | L>H | No |
ClinGen gnomAD |
|
|
CA361585208 rs1591179807 |
568 | P>S | No |
ClinGen Ensembl |
|
|
CA361585295 rs1375121802 |
571 | G>D | No |
ClinGen gnomAD |
|
|
CA3477007 rs372711037 |
572 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361585304 rs1222441475 |
572 | S>P | No |
ClinGen gnomAD |
|
|
rs778378071 CA3477008 |
573 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3477010 rs771261875 |
574 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs775075732 CA3477011 |
574 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs776090923 CA3477014 |
575 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3477013 rs768206517 CA361585341 |
575 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768206517 CA128416402 |
575 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 578 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765178580 CA3477016 |
579 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM138516 COSM138517 CA3477018 rs201006002 |
580 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3477017 rs201006002 |
580 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3477019 rs766191511 |
580 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA361585416 rs766191511 |
580 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA128416408 rs939325676 |
582 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM267131 COSM267130 rs939325676 CA361585429 |
582 | A>T | Variant assessed as Somatic; 4.623e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs751785850 CA3477020 |
585 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755227021 CA3477021 |
585 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA128416412 rs923999989 |
590 | K>N | No |
ClinGen Ensembl |
|
|
rs1591185092 CA361585591 |
592 | V>G | No |
ClinGen Ensembl |
|
|
CA361585603 rs367578838 |
593 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767744134 CA3477022 |
593 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs367578838 CA3477023 |
593 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3477026 rs147884705 |
594 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147884705 CA3477025 |
594 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147884705 CA361585621 |
594 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361585627 rs1233637152 |
595 | D>G | No |
ClinGen gnomAD |
|
|
rs1251651638 CA361585664 |
597 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361585686 rs1181931321 |
598 | S>C | No |
ClinGen gnomAD |
|
|
rs757821109 CA128416419 |
599 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361585707 rs1591188236 |
600 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 600 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361585709 rs1421670958 |
600 | Q>P | No |
ClinGen gnomAD |
|
|
rs746684751 CA3477029 |
601 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128416421 rs746684751 |
601 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301295650 CA361585727 |
601 | N>Y | No |
ClinGen TOPMed |
|
|
rs768331122 CA3477030 |
603 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1591190614 CA361585819 |
606 | Y>S | No |
ClinGen Ensembl |
|
|
rs747667778 CA3477033 |
607 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs769224543 CA3477034 |
607 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361585845 rs1384649464 |
608 | L>M | No |
ClinGen TOPMed |
|
|
CA361585848 rs1561862595 |
608 | L>Q | No |
ClinGen Ensembl |
|
|
rs762935149 CA3477036 |
609 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361585869 rs1344597432 |
610 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1226558966 CA361585880 |
610 | K>N | No |
ClinGen gnomAD |
|
|
CA3477037 rs766135434 |
612 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs901310090 CA128416431 |
614 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361585957 rs1238673327 |
616 | L>H | No |
ClinGen gnomAD |
|
|
CA3477041 rs752901891 |
618 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3477039 rs141541670 |
618 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3477040 rs141541670 |
618 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA128416437 rs1048081343 |
620 | G>A | No |
ClinGen TOPMed |
|
|
rs756330109 CA3477042 |
621 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195194477 CA361586010 |
621 | L>V | No |
ClinGen TOPMed |
|
|
CA128416440 rs1047752183 |
622 | H>Y | No |
ClinGen Ensembl |
|
|
CA361586039 rs886117102 |
623 | T>K | No |
ClinGen TOPMed |
|
|
rs886117102 CA128416442 |
623 | T>R | No |
ClinGen TOPMed |
|
|
COSM141134 COSM141133 rs1278355878 CA361586054 |
624 | G>D | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754354737 CA361586072 CA3477044 |
626 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757755103 CA361586085 |
627 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477046 rs779250544 |
627 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757755103 CA3477045 |
627 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477047 rs746251093 |
628 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs758701539 CA3477048 |
629 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361586123 rs758701539 |
629 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3477050 rs747789886 |
630 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361586168 rs1221328580 |
633 | L>M | No |
ClinGen gnomAD |
|
|
CA361586192 rs1277066771 |
635 | R>G | No |
ClinGen gnomAD |
|
|
CA3477053 rs777314784 |
637 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361586239 rs1202414814 |
637 | A>P | No |
ClinGen gnomAD |
|
|
COSM1063365 CA361586242 COSM1063364 rs777314784 |
637 | A>V | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361586277 rs1241190176 |
640 | Q>* | No |
ClinGen gnomAD |
|
|
CA3477057 rs147073234 |
641 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138402830 CA3477059 |
642 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3477063 rs764124373 |
644 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1275179569 CA361586414 |
646 | V>I | No |
ClinGen TOPMed |
|
|
CA361586435 rs1320099367 |
647 | Q>H | No |
ClinGen gnomAD |
|
|
rs200101512 CA3477064 |
648 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 649 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761752571 CA3477065 |
649 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750859951 CA3477067 |
650 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs992592523 CA128416472 |
651 | Q>* | No |
ClinGen TOPMed |
|
|
CA3477068 rs551129846 |
651 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417017747 CA361586750 |
653 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3477072 rs755759587 |
656 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477073 rs777248611 |
656 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361586795 rs1300743675 |
658 | V>G | No |
ClinGen TOPMed |
|
|
CA361586786 rs1244820860 |
658 | V>L | No |
ClinGen gnomAD |
|
|
CA3477075 rs564582881 |
659 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3477079 rs772043134 |
663 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3477080 rs772043134 |
663 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 664 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361586857 rs1407361813 |
665 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 665 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361586874 rs1476081470 |
666 | D>E | No |
ClinGen TOPMed |
|
|
rs1321974739 COSM3697042 COSM3697041 CA361586865 |
666 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3477081 rs760509503 |
666 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477082 rs768949018 |
667 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 667 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920444759 CA128416489 |
670 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs920444759 CA361586907 |
670 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA128416491 rs930442281 |
671 | V>I | No |
ClinGen TOPMed |
|
|
rs1349189547 CA361586943 |
673 | A>E | No |
ClinGen gnomAD |
|
|
CA128416493 rs975435403 |
673 | A>P | No |
ClinGen TOPMed |
|
|
rs547164205 CA3477085 |
675 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547164205 CA361586958 |
675 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356593437 CA361586966 |
676 | G>S | No |
ClinGen gnomAD |
|
|
rs567061101 CA3477087 |
678 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA128416500 rs922804811 COSM3827209 COSM3827210 |
679 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1591218426 CA361587016 |
680 | S>A | No |
ClinGen Ensembl |
|
|
CA128416502 rs368371918 |
681 | P>A | No |
ClinGen ESP TOPMed |
|
|
CA128416503 rs756670593 |
681 | P>L | No |
ClinGen Ensembl |
|
|
CA3477091 rs751950423 |
682 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA361587040 rs1482036720 |
682 | A>V | No |
ClinGen gnomAD |
|
|
CA3477092 rs755248654 |
683 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3477094 rs777487681 |
684 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477095 rs753429933 |
685 | E>K | No |
ClinGen ExAC |
|
|
CA3477096 rs756850668 |
686 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778545682 CA3477097 |
686 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477098 rs370597280 |
687 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3477099 rs758445645 |
690 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780093171 CA3477100 |
691 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361587166 rs1475572413 |
695 | V>G | No |
ClinGen gnomAD |
|
|
CA361587158 rs1340590903 COSM253276 COSM253277 |
695 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1299464282 CA361587169 |
696 | A>T | No |
ClinGen TOPMed |
|
|
CA361587175 COSM1542503 rs1312403897 COSM1542504 |
696 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361587193 rs1591226015 |
698 | A>G | No |
ClinGen Ensembl |
|
|
rs561153330 CA128416520 |
698 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361587199 rs1326521906 |
699 | A>G | No |
ClinGen TOPMed |
|
|
COSM1063367 CA3477105 rs769962088 COSM1063366 |
699 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361587205 rs1591227595 |
700 | V>G | No |
ClinGen Ensembl |
|
|
rs1444163835 CA361587200 |
700 | V>I | No |
ClinGen gnomAD |
|
|
rs762979829 CA3477107 |
702 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs762979829 CA3477108 |
702 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3477109 rs774780380 |
702 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3477110 rs139832920 |
703 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361587218 rs139832920 |
703 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022024380 CA128416524 |
704 | F>S | No |
ClinGen TOPMed |
|
|
CA3477111 rs73280906 |
705 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3477112 rs753576338 |
705 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361587231 rs753576338 |
705 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477113 rs567684479 |
706 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361587236 rs1472436953 |
706 | A>V | No |
ClinGen gnomAD |
|
|
rs865848752 CA361587243 |
707 | F>L | No |
ClinGen TOPMed |
|
|
CA3477115 rs146168033 |
710 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1591231903 CA361587273 |
711 | L>P | No |
ClinGen Ensembl |
|
|
rs780142081 CA3477117 |
713 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs139221180 CA3477119 |
714 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 714 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 715 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361587314 rs1226463441 |
716 | L>Q | No |
ClinGen gnomAD |
|
|
rs757934634 CA3477122 |
717 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773372764 COSM1434563 COSM1434562 CA3477123 |
717 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3477120 rs757934634 |
717 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128416540 rs1023591745 |
718 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1023591745 CA361587328 |
718 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361587343 rs1303459899 |
719 | W>* | No |
ClinGen TOPMed |
|
|
CA361587333 rs1561865972 |
719 | W>R | No |
ClinGen Ensembl |
|
|
rs964003305 CA128416543 |
722 | S>T | No |
ClinGen Ensembl |
|
|
rs770995285 CA3477125 |
723 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774982939 CA3477126 |
723 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs974147854 CA128416547 |
725 | L>M | No |
ClinGen TOPMed |
|
|
CA361587437 rs1346694514 |
728 | S>* | No |
ClinGen TOPMed |
|
|
rs761055026 CA3477130 |
729 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477132 rs750033444 |
731 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750033444 CA361587461 |
731 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758046420 CA3477133 |
731 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3477134 rs765972156 |
734 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs751560177 CA3477135 |
735 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382354299 CA361587512 |
735 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 736 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301800438 CA361587518 |
736 | P>Q | No |
ClinGen gnomAD |
|
|
rs754836894 CA3477137 |
737 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754836894 CA3477136 |
737 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3477138 rs754836894 |
737 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907699070 CA128416564 |
739 | H>N | No |
ClinGen TOPMed |
|
|
rs373558125 CA128416566 |
739 | H>Q | No |
ClinGen gnomAD |
|
|
CA128416568 rs922668811 |
742 | G>D | No |
ClinGen gnomAD |
|
|
rs1259121931 CA361587590 |
743 | V>A | No |
ClinGen gnomAD |
|
|
CA361587603 rs1269992849 |
744 | D>E | No |
ClinGen gnomAD |
|
|
CA361587601 rs1210809217 |
744 | D>G | No |
ClinGen gnomAD |
|
|
CA361587594 rs1485669709 |
744 | D>N | No |
ClinGen gnomAD |
|
|
CA3477141 rs749499789 |
745 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs777975384 CA3477140 |
745 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361587621 rs1591245132 |
746 | V>G | No |
ClinGen Ensembl |
|
|
rs576866505 CA3477142 |
746 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745921704 CA3477144 |
747 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361701281 CA361587641 |
748 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361587660 rs1382690376 |
749 | F>L | No |
ClinGen TOPMed |
|
|
rs368646186 CA3477145 |
749 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392666523 CA361587668 |
751 | Q>K | No |
ClinGen gnomAD |
|
|
CA3477146 rs776011816 |
753 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs761127608 CA3477148 |
754 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761127608 CA3477147 |
754 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1561866892 CA361587714 |
754 | S>P | No |
ClinGen Ensembl |
|
|
rs539293579 CA3477150 |
757 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3477152 rs751061646 |
758 | S>F | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361587776 rs1357694242 |
759 | L>V | No |
ClinGen gnomAD |
|
|
rs542113846 CA3477154 |
760 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361587806 rs1171788078 |
761 | T>R | No |
ClinGen TOPMed |
|
|
CA361587826 rs1183696623 |
762 | D>E | No |
ClinGen gnomAD |
|
|
CA361587837 rs1561867159 COSM115844 COSM115845 |
763 | S>L | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1418118305 CA361587840 |
764 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs757503771 CA3477160 |
765 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757503771 CA3477161 |
765 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361587874 rs1422450948 |
766 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3477162 rs745951077 |
767 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA361587907 rs1371087184 |
768 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361587905 rs1371087184 |
768 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1296504554 CA361587932 |
770 | F>C | No |
ClinGen gnomAD |
|
|
CA128416596 rs561950316 |
770 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361587977 rs1228153118 |
773 | P>R | No |
ClinGen TOPMed |
|
|
rs1315049041 CA361587988 |
774 | N>I | No |
ClinGen gnomAD |
|
|
CA3477164 rs767337670 |
775 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3477165 rs747501244 |
776 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361588050 rs1203083573 |
778 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1344906248 CA361588040 |
778 | M>V | No |
ClinGen gnomAD |
|
|
CA3477167 rs777101945 |
780 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA361588098 rs762225174 |
782 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762225174 CA3477168 |
782 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1031253372 CA128416609 |
784 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1031253372 CA361588134 |
784 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs575738328 CA361588181 |
788 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361588178 rs1442464320 |
788 | S>T | No |
ClinGen gnomAD |
|
|
rs773994964 CA3477170 |
790 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394486228 CA361588218 |
794 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361588224 TCGA novel rs1591259748 |
795 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA361588229 rs1401632804 |
796 | D>G | No |
ClinGen TOPMed |
|
|
rs758972664 CA3477171 |
797 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs752680691 CA3477173 |
805 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3477172 rs147848043 |
805 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760574214 CA3477174 |
807 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs199507607 CA3477175 |
808 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568448786 CA3478528 |
809 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128409902 rs951185891 |
811 | P>L | No |
ClinGen gnomAD |
|
|
rs983998465 CA128409930 |
812 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 813 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3478530 rs750564390 |
814 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478531 rs758427900 |
817 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1016713543 CA128409955 |
818 | F>L | No |
ClinGen Ensembl |
|
|
rs1163193977 CA361566926 |
820 | Q>R | No |
ClinGen TOPMed |
|
|
CA3478532 rs201391904 |
821 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361566953 rs1470545451 |
822 | Q>H | No |
ClinGen TOPMed |
|
|
rs755464933 CA3478534 |
824 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361566994 rs200418116 |
825 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200418116 CA3478535 |
825 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1304361659 CA361567019 |
826 | T>I | No |
ClinGen gnomAD |
|
|
rs1595274161 CA361567006 |
826 | T>P | No |
ClinGen Ensembl |
|
|
CA3478537 rs538734954 |
827 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478539 rs773899530 |
828 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361567042 rs773899530 |
828 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478538 rs773899530 |
828 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3478556 rs778130416 |
830 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361568554 rs1246198657 |
831 | N>I | No |
ClinGen TOPMed |
|
|
CA361568557 rs1216666169 |
831 | N>K | No |
ClinGen TOPMed |
|
|
rs546453598 CA3478558 |
833 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361568605 rs1240988786 |
835 | T>I | No |
ClinGen gnomAD |
|
|
rs746487145 CA3478560 |
836 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361568615 rs1595961990 |
837 | T>P | No |
ClinGen Ensembl |
|
|
CA361568623 rs1303924776 |
837 | T>S | No |
ClinGen TOPMed |
|
|
rs1386912520 CA361568660 |
839 | P>L | No |
ClinGen gnomAD |
|
|
rs1422538114 CA361568652 |
839 | P>S | No |
ClinGen gnomAD |
|
|
rs1453435374 CA361568667 |
840 | N>D | No |
ClinGen gnomAD |
|
|
CA3478561 rs377061064 |
840 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361568730 rs1417754900 |
842 | Q>P | No |
ClinGen gnomAD |
|
|
rs984518760 CA128414138 |
844 | D>Y | No |
ClinGen Ensembl |
|
|
CA3478565 rs773048793 |
849 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361568874 rs1326296096 |
851 | M>V | No |
ClinGen gnomAD |
|
|
CA361568953 rs1241228956 |
854 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA128414155 rs769108315 |
856 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3478584 rs762789865 |
859 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770587030 CA3478585 |
859 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361569738 rs1456176347 |
863 | S>G | No |
ClinGen gnomAD |
|
|
CA361569743 rs1180757756 |
863 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361569756 rs1473736492 |
864 | S>F | No |
ClinGen gnomAD |
|
|
CA361569752 rs1237904575 |
864 | S>P | No |
ClinGen gnomAD |
|
|
CA128417740 rs905130929 |
866 | L>P | No |
ClinGen TOPMed |
|
|
CA361569775 rs1448442252 |
867 | G>R | No |
ClinGen TOPMed |
|
|
CA3478590 rs761149166 |
868 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752758180 CA3478589 |
868 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361569797 rs1466168256 |
869 | G>A | No |
ClinGen gnomAD |
|
|
rs754203270 CA3478592 |
871 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361569811 rs1278517639 |
871 | G>S | No |
ClinGen TOPMed |
|
|
COSM1434613 COSM1434610 COSM1434636 COSM1434620 COSM1434638 COSM1434609 COSM1434635 CA361569834 rs1457918073 COSM1434622 COSM1434630 COSM1434619 COSM1434612 COSM1434621 COSM1434625 COSM1434628 COSM1434615 COSM1434631 COSM1434634 COSM1434618 COSM1434614 COSM1434623 COSM1434611 COSM1434626 COSM1434616 COSM1434624 COSM1434627 COSM1434617 |
873 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA128417772 rs879030278 |
873 | M>R | No |
ClinGen TOPMed |
|
|
CA128417771 rs879030278 |
873 | M>T | No |
ClinGen TOPMed |
|
|
rs757663132 CA3478593 |
873 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA128417773 rs143630962 |
876 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA361569871 |
877 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114669158 CA3478595 |
877 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148119281 CA3478596 |
878 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM252705 COSM252695 COSM252694 COSM252689 COSM252703 COSM252706 COSM252687 COSM252702 COSM252686 COSM252700 COSM252699 COSM252707 COSM252692 COSM252698 rs780918754 COSM252690 COSM252693 COSM252701 COSM252697 COSM252685 COSM252704 COSM252691 COSM252688 COSM252696 CA3478597 COSM252684 |
878 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361569882 rs780918754 |
878 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361569892 rs1286219897 |
879 | Y>C | No |
ClinGen TOPMed |
|
|
rs370503146 CA361569900 CA128417777 |
880 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1430257603 CA361569909 |
881 | P>S | No |
ClinGen TOPMed |
|
|
CA361569934 rs1194909537 |
883 | F>S | No |
ClinGen gnomAD |
|
|
rs1596312562 CA361569940 |
884 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 885 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361569954 rs1279056657 |
885 | L>R | No |
ClinGen gnomAD |
|
|
CA361569967 CA128417780 rs779589499 |
886 | Q>H | No |
ClinGen gnomAD |
|
|
CA361569972 rs1185153127 |
887 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1542463 COSM1542479 COSM1542470 COSM1542466 COSM1542482 COSM1542480 COSM1542471 COSM1542468 COSM1542464 COSM1542455 COSM1542458 COSM1542467 COSM1542475 CA3478601 COSM1542469 rs116366286 COSM1542456 COSM1542474 COSM1542453 COSM1542454 COSM1542478 COSM1542459 COSM1542465 COSM1542460 COSM1542461 COSM1542457 COSM1542462 COSM1542472 |
888 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs770767470 CA3478602 |
889 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361570002 rs774071540 |
890 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774071540 CA3478603 |
890 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3478604 rs759809591 |
892 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1261501 COSM1261498 CA3478605 COSM1261488 COSM1261490 COSM1261496 COSM1261482 COSM1261491 COSM1261494 COSM1261487 COSM1261511 COSM1261484 COSM1261508 COSM1261493 COSM1261503 rs61749029 COSM1261500 COSM1261507 COSM1261509 COSM1261504 COSM1261495 COSM1261485 COSM1261499 COSM1261497 COSM1261483 COSM1261489 COSM1261492 COSM1261486 |
892 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA128417831 rs979000054 |
895 | V>I | No |
ClinGen TOPMed |
|
|
rs760786015 CA3478607 |
898 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341623011 CA361570104 |
899 | G>D | No |
ClinGen gnomAD |
|
|
CA128417833 rs548074156 |
899 | G>S | No |
ClinGen 1000Genomes |
|
|
CA361570117 rs1250292751 |
900 | S>I | No |
ClinGen TOPMed |
|
|
CA3478608 rs201009079 |
901 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3478610 rs377350933 |
907 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128417877 rs1027676257 |
908 | A>T | No |
ClinGen Ensembl |
|
|
rs1256158642 CA361570180 |
908 | A>V | No |
ClinGen gnomAD |
|
|
CA128417880 rs779731716 |
910 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs536900646 CA3478612 |
911 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536900646 CA3478613 |
911 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765756193 CA3478611 |
911 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767257788 CA3478614 |
913 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361570222 rs767257788 |
913 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361570244 rs1352222210 |
915 | A>V | No |
ClinGen TOPMed |
|
|
CA361570255 rs1175280816 |
916 | P>L | No |
ClinGen gnomAD |
|
|
rs752246201 CA3478615 |
917 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA361570256 rs1306158892 |
917 | A>T | No |
ClinGen TOPMed |
|
|
CA3478617 rs777082914 |
919 | G>D | No |
ClinGen ExAC |
|
|
CA3478618 rs200541479 |
921 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405623579 CA361570300 |
922 | N>K | No |
ClinGen gnomAD |
|
| rs1427934561 | 925 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202071188 CA3478620 |
926 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1477173987 | 930 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1173375966 | 932 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422052114 CA361570368 |
932 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1384881403 CA361570382 |
933 | K>Y | No |
ClinGen gnomAD |
No associated diseases with O60330
11 regional properties for O60330
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin-like | 45 - 133 | IPR002126-1 |
| domain | Cadherin-like | 134 - 242 | IPR002126-2 |
| domain | Cadherin-like | 242 - 347 | IPR002126-3 |
| domain | Cadherin-like | 348 - 562 | IPR002126-4 |
| domain | Cadherin-like | 579 - 683 | IPR002126-5 |
| domain | Cadherin, N-terminal | 30 - 112 | IPR013164 |
| conserved_site | Cadherin conserved site | 230 - 240 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 440 - 450 | IPR020894-2 |
| conserved_site | Cadherin conserved site | 550 - 560 | IPR020894-3 |
| domain | Cadherin, C-terminal catenin-binding domain | 811 - 932 | IPR031904 |
| domain | Cadherin, cytoplasmic C-terminal domain | 688 - 771 | IPR032455 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRB9 | PCDHGA12 | Protocadherin gamma-A12 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPARLHRDY | KGLVLLGILL | GTLWETGCTQ | IRYSVPEELE | KGSRVGDISR | DLGLEPRELA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERGVRIIPRG | RTQLFALNPR | SGSLVTAGRI | DREELCMGAI | KCQLNLDILM | EDKVKIYGVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEVRDINDNA | PYFRESELEI | KISENAATEM | RFPLPHAWDP | DIGKNSLQSY | ELSPNTHFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IVQNGADGSK | YPELVLKRAL | DREEKAAHHL | VLTASDGGDP | VRTGTARIRV | MVLDANDNAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AFAQPEYRAS | VPENLALGTQ | LLVVNATDPD | EGVNAEVRYS | FRYVDDKAAQ | VFKLDCNSGT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISTIGELDHE | ESGFYQMEVQ | AMDNAGYSAR | AKVLITVLDV | NDNAPEVVLT | SLASSVPENS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PRGTLIALLN | VNDQDSEENG | QVICFIQGNL | PFKLEKSYGN | YYSLVTDIVL | DREQVPSYNI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVTATDRGTP | PLSTETHISL | NVADTNDNPP | VFPQASYSAY | IPENNPRGVS | LVSVTAHDPD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CEENAQITYS | LAENTIQGAS | LSSYVSINSD | TGVLYALSSF | DYEQFRDLQV | KVMARDNGHP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLSSNVSLSL | FVLDQNDNAP | EILYPALPTD | GSTGVELAPR | SAEPGYLVTK | VVAVDRDSGQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NAWLSYRLLK | ASEPGLFSVG | LHTGEVRTAR | ALLDRDALKQ | SLVVAVQDHG | QPPLSATVTL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TVAVADSIPQ | VLADLGSLES | PANSETSDLT | LYLVVAVAAV | SCVFLAFVIL | LLALRLRRWH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KSRLLQASGG | GLTGAPASHF | VGVDGVQAFL | QTYSHEVSLT | TDSRKSHLIF | PQPNYADMLV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SQESFEKSEP | LLLSGDSVFS | KDSHGLIEQA | PPNTDWRFSQ | AQRPGTSGSQ | NGDDTGTWPN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NQFDTEMLQA | MILASASEAA | DGSSTLGGGA | GTMGLSARYG | PQFTLQHVPD | YRQNVYIPGS |
| 910 | 920 | 930 | |||
| NATLTNAAGK | RDGKAPAGGN | GNKKKSGKKE | KK |