Q7Z4H7
PR
Gene name |
HAUS6 (DGT6, FAM29A, KIAA1574) |
Protein name |
HAUS augmin-like complex subunit 6 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54801 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q7Z4H7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7SQK | EM | 800 A | F | 1-432 | PDB |
| AF-Q7Z4H7-F1 | Predicted | AlphaFoldDB |
966 variants for Q7Z4H7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs145804356 CA5002156 |
2 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216899998 CA373030851 |
4 | A>T | No |
ClinGen TOPMed |
|
|
CA5002154 rs754229994 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780643909 CA5002153 |
5 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780643909 CA373030833 |
5 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373030820 rs566891718 |
6 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374807790 CA5002150 |
6 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs566891718 CA5002151 |
6 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949099433 CA190506116 |
7 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs949099433 CA373030797 |
7 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373030793 rs762664451 |
8 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5002149 rs762664451 |
8 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373030762 rs1486473106 |
9 | F>C | No |
ClinGen TOPMed |
|
|
CA5002148 rs548850007 |
11 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5002147 rs201858382 |
13 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588634609 CA373030693 |
14 | L>F | No |
ClinGen Ensembl |
|
|
rs776381603 CA5002146 |
15 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA373030677 rs1261920568 |
15 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5002145 rs776381603 |
15 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1475456444 CA373030646 |
16 | M>I | No |
ClinGen TOPMed |
|
|
CA373030658 rs771037548 |
16 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs771037548 CA5002144 |
16 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187481304 CA373030634 |
17 | Y>C | No |
ClinGen gnomAD |
|
|
rs987941842 CA190506044 |
19 | Q>K | No |
ClinGen TOPMed |
|
|
rs773207373 CA5002142 |
21 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA190506035 rs773207373 |
21 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1174069401 CA373030570 |
22 | G>S | No |
ClinGen TOPMed |
|
|
rs748258883 CA5002140 |
24 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768579786 CA5002138 |
27 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs143432534 CA5002137 |
28 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5002135 rs149011196 |
29 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5002136 rs149011196 |
29 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5002133 rs781598615 |
30 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs780750705 CA190505939 |
30 | I>V | No |
ClinGen TOPMed |
|
|
CA373030458 rs1564024829 |
31 | A>T | No |
ClinGen Ensembl |
|
|
rs1564024824 CA373030439 |
32 | C>F | No |
ClinGen Ensembl |
|
|
rs752227718 CA5002131 |
34 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs764962421 CA5002130 |
35 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5002129 rs758944089 |
37 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1163147394 CA373030358 |
38 | H>Q | No |
ClinGen gnomAD |
|
|
rs369485421 CA373030350 |
39 | T>K | No |
ClinGen ESP gnomAD |
|
|
rs369485421 CA190505889 |
39 | T>M | No |
ClinGen ESP gnomAD |
|
|
rs766411626 CA5002127 |
40 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773295871 CA5002125 |
41 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA5002126 rs531425710 |
41 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373030321 rs1205022321 |
42 | G>R | No |
ClinGen gnomAD |
|
|
rs771924795 CA5002124 |
43 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5002097 rs775706769 |
45 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373027130 rs775706769 |
45 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769801485 CA5002096 |
46 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA373027066 rs1358514339 |
47 | D>H | No |
ClinGen gnomAD |
|
|
CA5002095 rs545227035 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM182386 CA5002094 rs539387980 |
51 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs568895771 CA5002093 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5002092 rs371815503 |
52 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5002091 rs371815503 |
52 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs748880821 CA373026880 |
53 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs578131887 CA5002090 |
53 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578131887 CA373026889 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748880821 CA5002089 |
53 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5002088 rs779883988 |
55 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5002087 rs755635700 |
56 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1406996393 CA373026801 |
57 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs750003005 CA190491251 |
58 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750003005 CA5002086 |
58 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5002084 rs757288535 |
59 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA190491199 rs1017175517 |
63 | Q>* | No |
ClinGen TOPMed |
|
|
CA373026625 rs1017175517 |
63 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373026595 rs1311860901 |
64 | V>A | No |
ClinGen gnomAD |
|
|
CA373026594 rs1311860901 |
64 | V>G | No |
ClinGen gnomAD |
|
|
CA373026601 rs1355234492 |
64 | V>I | No |
ClinGen gnomAD |
|
|
rs146772121 CA190491188 |
66 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1210320340 CA373026550 |
66 | D>G | No |
ClinGen TOPMed |
|
|
rs1051999389 CA190491195 |
66 | D>N | No |
ClinGen TOPMed |
|
|
CA190491182 rs750658444 |
67 | Q>E | No |
ClinGen Ensembl |
|
|
CA190491178 rs751300721 CA5002083 |
67 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5002082 rs763894085 |
68 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA373026491 COSM455741 rs1399681503 |
69 | L>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs367843922 CA5002081 |
73 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367843922 CA373026412 |
73 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5002080 rs775653696 |
75 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5002079 rs201616081 |
75 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780715246 CA5002043 |
77 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780715246 CA373025605 |
77 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373025586 rs1226579641 |
78 | W>* | No |
ClinGen TOPMed |
|
|
rs1371162692 CA373025592 |
78 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373025556 rs1272720938 |
80 | P>A | No |
ClinGen TOPMed |
|
|
rs1429318009 CA373025535 |
81 | F>S | No |
ClinGen gnomAD |
|
|
rs371605568 CA5002041 CA373025511 |
82 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA190488374 rs751914217 |
82 | D>V | No |
ClinGen Ensembl |
|
|
CA190488365 rs955003276 |
83 | Q>K | No |
ClinGen Ensembl |
|
|
CA373025470 rs1468139502 |
85 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5002039 rs142532991 |
85 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5002038 rs142532991 |
85 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373025465 rs1468139502 |
85 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373025456 rs1456681849 |
86 | D>V | No |
ClinGen gnomAD |
|
|
CA5002036 rs754771066 |
87 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5002037 rs754771066 |
87 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA190488324 rs1033383068 |
90 | R>* | No |
ClinGen Ensembl |
|
|
rs1297343076 CA373025418 |
90 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA373025377 rs1304021432 |
92 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373025380 rs1304021432 |
92 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5002034 rs147703808 |
92 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443048124 CA373025355 |
93 | C>Y | No |
ClinGen gnomAD |
|
|
CA373025338 rs1410374582 |
94 | C>R | No |
ClinGen TOPMed |
|
|
CA190488302 rs1044441591 |
95 | E>G | No |
ClinGen Ensembl |
|
|
rs760785922 CA5002033 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA373025299 rs1297366862 |
96 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5002032 rs750510194 |
97 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA373025250 rs1476546085 |
99 | R>T | No |
ClinGen gnomAD |
|
|
rs772854146 CA5002005 |
104 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772854146 CA5002004 |
104 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239720378 CA373024975 |
104 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5002003 rs370117102 |
105 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373024941 rs145443951 |
106 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145443951 CA5002002 |
106 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs914952433 CA190486913 |
107 | S>R | No |
ClinGen TOPMed |
|
|
rs1356318424 CA373024864 |
110 | Q>R | No |
ClinGen gnomAD |
|
|
CA5002000 rs768619585 |
111 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373024838 rs1380531323 |
112 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373024836 rs1380531323 |
112 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5001999 rs148540806 |
113 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375776734 CA5001998 |
115 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1164660761 CA373024744 |
118 | S>P | No |
ClinGen gnomAD |
|
|
rs755952116 CA5001996 |
119 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781599509 CA5001994 |
120 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1036312107 CA190486858 |
122 | P>A | No |
ClinGen Ensembl |
|
|
rs757365499 CA5001993 |
124 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs751743134 CA5001992 |
125 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA190486850 rs941840090 |
125 | I>S | No |
ClinGen Ensembl |
|
|
rs1450688238 CA373024602 |
126 | H>L | No |
ClinGen TOPMed |
|
|
rs151253216 COSM608547 CA5001991 |
126 | H>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373024591 rs758883064 |
127 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374484100 CA5001989 |
128 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765450053 CA5001988 |
129 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197997891 CA373024489 |
133 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001985 rs142253364 |
133 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326124396 CA373024479 |
133 | R>S | No |
ClinGen gnomAD |
|
|
CA5001984 rs761281124 |
134 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs773916877 CA373024468 |
134 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA373024467 rs1392907876 |
135 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5001982 rs768626069 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5001979 rs775503027 |
137 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373024434 rs1420517599 |
137 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs932062816 CA190486755 |
138 | K>E | No |
ClinGen Ensembl |
|
|
CA5001978 rs148483833 |
138 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414438974 CA373024415 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA586834331 rs1250984930 |
139 | Y>* | No |
ClinGen gnomAD |
|
|
CA373024376 rs1450807852 |
141 | K>* | No |
ClinGen gnomAD |
|
|
CA5001977 rs537558782 |
141 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA190486748 rs956764783 |
142 | S>F | No |
ClinGen Ensembl |
|
|
rs567142612 CA5001976 |
143 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5001975 rs771321956 |
144 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1190062728 CA373024329 |
145 | K>E | No |
ClinGen TOPMed |
|
|
rs1336752925 CA373023818 |
147 | S>Y | No |
ClinGen gnomAD |
|
|
CA190482692 COSM1742088 rs899296946 |
148 | S>F | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1276403925 CA373023814 |
148 | S>T | No |
ClinGen gnomAD |
|
|
rs376176734 CA5001954 |
149 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs755574064 CA5001952 |
150 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001951 rs755574064 |
150 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001953 rs748306986 |
150 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373023738 rs1434866457 |
151 | F>C | No |
ClinGen gnomAD |
|
|
rs1156749300 CA373023663 |
153 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373023643 rs1469402336 |
154 | T>I | No |
ClinGen gnomAD |
|
|
CA373023651 rs1469402336 |
154 | T>K | No |
ClinGen gnomAD |
|
|
CA373023604 rs1233267366 |
156 | N>H | No |
ClinGen gnomAD |
|
|
rs1471768034 CA373023593 |
156 | N>I | No |
ClinGen TOPMed |
|
|
rs768964348 CA190482659 |
157 | I>V | No |
ClinGen Ensembl |
|
|
rs749638721 CA5001949 |
159 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749638721 CA373023512 |
159 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156609843 CA373023520 |
159 | P>S | No |
ClinGen TOPMed |
|
|
CA5001948 rs146258400 |
160 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001947 rs756476569 |
161 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1314027241 CA373023445 |
163 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1314027241 CA373023448 |
163 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5001945 rs763830809 |
163 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA373023434 rs1588622877 |
163 | H>R | No |
ClinGen Ensembl |
|
|
rs1314027241 CA373023441 |
163 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5001944 rs547104070 |
165 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752293989 CA5001943 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs765085156 CA5001942 |
167 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1564018963 CA373023306 |
169 | C>S | No |
ClinGen Ensembl |
|
|
CA5001940 rs776710734 |
169 | C>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112005391 CA190482618 |
171 | F>L | No |
ClinGen gnomAD |
|
|
CA190482613 rs747156587 |
172 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5001938 rs180922782 |
173 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs180922782 CA5001937 |
173 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373655058 CA5001936 |
173 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748171103 CA5001935 |
175 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA5001934 rs774547775 |
176 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373023208 rs774547775 |
176 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049517861 CA190482593 |
178 | Q>* | No |
ClinGen Ensembl |
|
|
CA373023171 rs1415432160 |
178 | Q>P | No |
ClinGen gnomAD |
|
|
rs768736312 CA5001933 |
179 | I>V | No |
ClinGen ExAC |
|
|
CA190482581 rs775413265 |
180 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs749728750 CA5001932 |
181 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001931 rs780571115 |
181 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs900850080 CA190482577 |
182 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373023110 rs1157203721 |
182 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5001930 rs756423647 |
183 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA190482574 rs1052935018 |
183 | Q>R | No |
ClinGen TOPMed |
|
|
CA190482573 rs990531618 |
184 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5001929 rs746295584 |
185 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA373023040 rs1588622807 |
187 | T>A | No |
ClinGen Ensembl |
|
|
rs139911174 CA5001926 CA5001927 |
188 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149871558 CA5001924 |
191 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1564018896 CA373022948 |
192 | E>G | No |
ClinGen Ensembl |
|
|
rs766466607 CA5001923 |
192 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766466607 CA5001922 |
192 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5001921 rs560897279 |
193 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773124633 CA5001920 |
193 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5001919 rs145979025 |
194 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001888 rs777031565 |
196 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5001887 rs771290701 |
197 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1330463209 CA373021599 |
198 | V>A | No |
ClinGen TOPMed |
|
|
CA373021555 rs1434251332 |
200 | Q>R | No |
ClinGen gnomAD |
|
|
rs778688942 CA5001886 CA5001885 |
201 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5001884 rs768482791 |
202 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs190016794 CA5001883 |
202 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190016794 CA5001882 |
202 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001881 rs755592840 |
203 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305131340 CA373021465 |
205 | R>* | No |
ClinGen gnomAD |
|
|
CA373021453 rs750326234 |
206 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373021455 rs1415987843 |
206 | S>T | No |
ClinGen gnomAD |
|
|
rs750326234 CA5001880 |
206 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA190480422 rs953405508 |
208 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1360409332 CA373021405 |
208 | C>Y | No |
ClinGen gnomAD |
|
|
CA5001879 rs115666144 |
209 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1588620661 CA373021393 |
209 | I>V | No |
ClinGen Ensembl |
|
|
rs757044848 CA5001878 |
210 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373021323 rs1164267580 |
212 | E>* | No |
ClinGen gnomAD |
|
|
CA190480392 rs199509421 |
212 | E>D | No |
ClinGen 1000Genomes TOPMed |
|
|
CA373021269 rs1235361182 |
214 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1315107171 CA373021239 |
215 | I>T | No |
ClinGen gnomAD |
|
|
CA5001875 rs763224634 |
216 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775698192 CA5001873 |
217 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373021035 rs1392767352 |
218 | M>V | No |
ClinGen gnomAD |
|
|
CA373021006 rs1472245282 |
219 | E>K | No |
ClinGen gnomAD |
|
|
CA5001853 rs141382710 |
221 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141382710 CA5001854 |
221 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001855 rs777474307 |
221 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs765421374 CA5001852 |
223 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373020915 rs1192468284 |
224 | H>Y | No |
ClinGen TOPMed |
|
|
CA5001850 rs753926333 |
225 | S>R | No |
ClinGen ExAC |
|
|
rs1156509652 CA373020847 |
227 | M>I | No |
ClinGen TOPMed |
|
|
CA5001849 rs375437357 |
227 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001847 rs534770993 |
228 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534770993 CA5001848 |
228 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209089395 CA373020837 |
228 | E>Q | No |
ClinGen gnomAD |
|
|
rs767945104 CA5001846 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA190480152 rs976302534 |
230 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs570643336 CA5001845 |
230 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1291128766 CA373020771 |
232 | Q>E | No |
ClinGen TOPMed |
|
|
CA373020740 rs1564017779 |
233 | K>N | No |
ClinGen Ensembl |
|
|
CA190477239 rs1028943590 |
234 | V>I | No |
ClinGen TOPMed |
|
|
CA373020025 rs776356511 |
235 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001822 rs776356511 |
235 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868190886 CA190477227 |
235 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760222467 CA5001821 |
236 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001820 rs760222467 |
236 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484736348 CA373020015 |
237 | L>F | No |
ClinGen gnomAD |
|
|
CA5001819 rs141127404 |
237 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373020009 rs1266836010 |
238 | W>S | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772058187 CA5001818 |
241 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5001817 rs190653467 |
244 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001815 rs768511661 |
245 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA5001812 rs756231765 CA373019957 |
246 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs148389196 CA5001814 |
246 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373019959 rs1349431773 |
246 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5001813 rs148389196 |
246 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781760880 CA5001810 |
247 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5001811 rs750579331 |
247 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025122642 CA190477186 |
249 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA373019941 rs1318696901 |
249 | E>Q | No |
ClinGen TOPMed |
|
|
CA190477183 rs1025122642 |
249 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5001809 rs757903671 |
250 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs146901356 COSM422405 CA373019921 CA5001807 |
251 | E>D | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1156584564 CA373019911 |
253 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1156584564 CA373019913 |
253 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs368482372 CA5001803 |
254 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368482372 CA5001804 |
254 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001805 rs763394214 |
254 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373019900 rs1474375721 |
255 | V>F | No |
ClinGen gnomAD |
|
|
CA5001802 rs760169160 |
256 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772778861 CA5001801 |
257 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771577843 CA5001800 |
258 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5001799 rs761600844 |
259 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1370015250 CA373019860 |
262 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA373019859 rs1370015250 |
262 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774370294 CA5001798 |
263 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768297570 CA5001797 |
264 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1465195021 CA373019843 |
264 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780117142 CA5001795 |
266 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1283085013 CA373019821 |
267 | L>F | No |
ClinGen gnomAD |
|
|
rs1172879173 CA373019815 |
268 | D>V | No |
ClinGen gnomAD |
|
|
CA5001794 rs770197590 |
270 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs770197590 CA190477121 |
270 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA373019802 rs142571406 |
271 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001793 rs142571406 |
271 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564016188 CA373019795 |
272 | V>I | No |
ClinGen Ensembl |
|
|
CA190477109 rs928507424 |
273 | A>V | No |
ClinGen Ensembl |
|
|
CA5001792 rs781352066 |
274 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001791 rs757424450 |
275 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001790 rs751957976 |
275 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs199750812 CA5001789 |
277 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5001788 rs199750812 |
277 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 277 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373019756 rs374670382 CA190477060 |
278 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 279 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760257159 CA373019742 |
281 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760257159 CA5001785 |
281 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs750090503 CA5001784 |
282 | D>H | No |
ClinGen ExAC |
|
|
rs138226659 CA5001782 |
284 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 285 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001780 rs371706932 |
286 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373019697 CA373019696 rs1193838254 |
287 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs907695931 CA190477039 |
287 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs907695931 CA190477034 |
287 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5001779 rs764140370 |
288 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477491314 CA373019674 |
290 | Q>L | No |
ClinGen TOPMed |
|
|
rs890977053 CA190475597 |
292 | H>Y | No |
ClinGen TOPMed |
|
|
rs974130115 CA190475591 |
293 | I>K | No |
ClinGen Ensembl |
|
|
rs771245869 CA190475595 |
293 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs771245869 CA5001751 |
293 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA190475588 rs867386149 |
295 | N>D | No |
ClinGen Ensembl |
|
|
CA5001750 rs747059162 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs773278956 CA5001749 |
296 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772060921 CA5001748 |
297 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5001747 rs748607665 |
299 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA373019438 rs1249176239 |
300 | G>E | No |
ClinGen gnomAD |
|
|
CA373019410 rs1286840046 |
302 | L>R | No |
ClinGen TOPMed |
|
|
CA373019416 rs1203724531 |
302 | L>V | No |
ClinGen gnomAD |
|
|
CA373019401 rs1483114308 |
303 | N>S | No |
ClinGen gnomAD |
|
|
rs529963983 CA5001746 |
304 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529963983 CA373019393 |
304 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373019383 rs1382674086 |
305 | L>I | No |
ClinGen TOPMed |
|
|
CA5001745 rs559105294 |
306 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780808256 CA5001743 |
308 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5001741 rs751174243 |
308 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5001742 rs757001874 |
308 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5001740 rs763600666 |
309 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs374759067 CA5001739 |
312 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373019223 rs1183432186 |
317 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759378993 CA5001736 |
318 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs753756776 CA5001735 |
321 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs142022872 CA5001734 |
322 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373019138 rs1472742372 |
322 | R>H | No |
ClinGen gnomAD |
|
|
CA5001732 rs138768406 |
324 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182748605 CA5001731 |
325 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001729 rs761923103 |
327 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
COSM3848215 CA5001730 rs761923103 |
327 | Q>E | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA373019089 rs1287914364 |
328 | A>E | No |
ClinGen gnomAD |
|
|
rs1287914364 CA373019090 |
328 | A>G | No |
ClinGen gnomAD |
|
|
rs1454273813 CA373019092 |
328 | A>P | No |
ClinGen TOPMed |
|
|
CA373019087 rs1194266112 |
329 | R>G | No |
ClinGen TOPMed |
|
|
rs774817270 CA5001728 |
329 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774817270 CA190475527 |
329 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs149772323 CA5001726 COSM2153532 |
331 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5001723 rs746620621 |
334 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs1346057066 CA373019044 |
335 | H>Q | No |
ClinGen TOPMed |
|
|
CA5001721 rs150224152 |
336 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001722 rs150224152 |
336 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373019037 rs1311669439 |
337 | L>I | No |
ClinGen gnomAD |
|
|
CA373019036 rs1311669439 |
337 | L>V | No |
ClinGen gnomAD |
|
|
rs367762183 CA5001720 |
338 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778993432 CA5001719 |
340 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1160421278 CA373019006 |
341 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753842997 CA5001717 |
342 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766151985 CA5001716 |
342 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA373018995 rs1303429304 |
343 | F>I | No |
ClinGen TOPMed |
|
|
rs760420158 CA5001715 |
345 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA190475489 rs941436906 |
346 | E>G | No |
ClinGen Ensembl |
|
|
rs977597594 CA190475483 |
347 | R>K | No |
ClinGen TOPMed |
|
|
CA5001711 rs750882812 |
348 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs372020124 CA190475470 |
348 | L>F | No |
ClinGen gnomAD |
|
|
rs911330993 CA373018950 |
350 | D>H | No |
ClinGen TOPMed |
|
|
rs911330993 CA190475466 |
350 | D>N | No |
ClinGen TOPMed |
|
|
CA5001709 rs143462027 |
351 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146004976 CA5001706 |
353 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244103651 CA373018931 |
353 | H>Y | No |
ClinGen gnomAD |
|
|
TCGA novel CA373018918 rs1176738821 |
354 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA373018920 rs1314997608 |
354 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5001684 rs776798047 CA373018593 |
355 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001705 rs746255865 |
355 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5001683 rs771438394 |
356 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1184736672 CA373018589 |
356 | Y>H | No |
ClinGen gnomAD |
|
|
CA373018578 rs1197984358 |
357 | R>G | No |
ClinGen gnomAD |
|
|
rs988430525 CA190474084 |
357 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5001682 rs774558688 |
358 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001679 rs373622567 |
361 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768251644 CA5001680 |
361 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768251644 CA5001681 |
361 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258808080 CA373018512 |
363 | T>A | No |
ClinGen gnomAD |
|
|
rs544499565 CA5001678 |
364 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001677 rs369271478 |
365 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274629436 CA373018469 |
367 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373018451 rs1564014089 |
369 | V>I | No |
ClinGen Ensembl |
|
|
rs1564014089 CA373018449 |
369 | V>L | No |
ClinGen Ensembl |
|
|
rs1288470991 CA373018436 |
370 | V>A | No |
ClinGen gnomAD |
|
|
rs111697063 CA5001676 |
370 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111697063 CA373018441 |
370 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1234633339 CA373018391 |
374 | G>E | No |
ClinGen TOPMed |
|
|
rs144494634 CA5001675 |
375 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1407397216 CA373018364 |
376 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373018362 rs1407397216 |
376 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5001674 rs757066840 |
377 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001673 rs149255370 |
378 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373018305 rs1400053000 |
381 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373018306 rs1400053000 |
381 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1164838866 CA373018293 |
382 | E>Q | No |
ClinGen TOPMed |
|
|
rs764337285 CA5001672 |
384 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758477561 CA5001671 |
385 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs937176274 CA190474027 |
385 | G>R | No |
ClinGen Ensembl |
|
|
rs752775520 CA5001670 |
388 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1329487222 CA373018220 |
389 | F>V | No |
ClinGen TOPMed |
|
|
CA5001668 rs759905248 |
390 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206800517 CA373018203 |
390 | S>N | No |
ClinGen gnomAD |
|
|
rs777219006 CA373018197 |
391 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5001664 rs144118852 |
392 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001665 rs761164421 |
392 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA190473982 rs138517405 |
395 | W>R | No |
ClinGen ESP |
|
|
CA190473979 rs1015145934 |
396 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs907867508 CA373018133 |
397 | P>A | No |
ClinGen gnomAD |
|
|
rs748828305 CA5001661 |
397 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748828305 CA190473967 |
397 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA190473971 rs907867508 |
397 | P>T | No |
ClinGen gnomAD |
|
|
CA373017512 rs910492033 |
400 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA190472558 rs910492033 |
400 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 400 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559195154 CA5001622 |
401 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA190472556 rs919453974 |
401 | L>V | No |
ClinGen TOPMed |
|
|
CA373017463 rs1349574229 |
403 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA190472550 rs562719033 |
403 | P>T | No |
ClinGen Ensembl |
|
|
rs759030652 CA5001621 |
405 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776186176 CA5001620 |
406 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1388813599 CA373017402 |
407 | P>A | No |
ClinGen gnomAD |
|
|
CA373017397 rs1168535736 |
407 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760559772 CA5001618 |
408 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773167853 CA5001617 |
409 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1189910972 CA373017371 |
409 | S>P | No |
ClinGen gnomAD |
|
|
CA373017328 rs1490707565 |
411 | D>E | No |
ClinGen gnomAD |
|
|
rs748028676 CA5001615 |
411 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA373017342 rs748028676 |
411 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA373017323 rs1317369557 |
412 | P>S | No |
ClinGen TOPMed |
|
|
CA5001614 rs778990421 |
413 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260210894 CA373017277 |
415 | E>K | No |
ClinGen TOPMed |
|
|
CA5001613 rs768990016 |
418 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA190472525 rs913770438 |
421 | S>T | No |
ClinGen Ensembl |
|
|
rs1367086461 CA373017128 |
422 | I>F | No |
ClinGen gnomAD |
|
|
rs749527654 CA373017100 |
424 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001612 rs749527654 |
424 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001611 rs780225716 |
424 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA373017040 rs1307542515 |
426 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5001610 rs756283139 |
426 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5001609 rs146741109 |
427 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001608 rs781742360 |
429 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs536853809 CA5001606 |
430 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1428120095 CA373016960 |
431 | P>A | No |
ClinGen gnomAD |
|
|
rs754556310 CA5001605 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001604 rs754556310 |
431 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373015998 rs1245207593 |
432 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5001580 rs750017534 |
432 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1454038178 CA373015991 |
433 | A>V | No |
ClinGen gnomAD |
|
|
rs766942074 CA5001579 |
434 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368054510 CA5001578 |
434 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373015986 rs766942074 |
434 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763939491 CA5001576 |
436 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs763939491 CA373015976 |
436 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5001574 rs140525329 |
437 | H>P | No |
ClinGen ESP ExAC |
|
|
CA373015967 rs1463392858 |
437 | H>Y | No |
ClinGen gnomAD |
|
|
CA373015957 rs1261246743 |
438 | N>I | No |
ClinGen gnomAD |
|
|
CA5001573 rs148336635 |
439 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373015944 rs1487007901 |
440 | E>A | No |
ClinGen gnomAD |
|
|
CA373015939 rs1378084951 |
441 | N>H | No |
ClinGen TOPMed |
|
|
CA5001572 rs745927212 |
441 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360725788 CA373015929 |
442 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776703181 CA5001571 |
442 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373015899 rs1159476065 |
446 | D>E | No |
ClinGen TOPMed |
|
|
CA5001569 rs747499379 |
447 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1305749321 CA373015890 |
448 | D>H | No |
ClinGen gnomAD |
|
|
rs1364883280 CA373015886 |
448 | D>V | No |
ClinGen gnomAD |
|
|
CA190468442 rs1016974491 |
449 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5001566 rs576412467 |
450 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533444110 CA5001567 |
450 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001565 rs558093369 |
452 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558093369 CA373015864 |
452 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1343985211 CA373015865 |
452 | A>T | No |
ClinGen gnomAD |
|
|
rs558093369 CA5001564 |
452 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373015861 rs1165425699 |
453 | L>P | No |
ClinGen gnomAD |
|
|
rs756751477 CA5001561 |
453 | L>V | No |
ClinGen ExAC |
|
|
CA5001560 rs751482029 |
454 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs762828267 CA5001558 |
455 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1376437859 CA373015839 |
457 | A>P | No |
ClinGen TOPMed |
|
|
CA373015833 rs1265555376 |
458 | N>D | No |
ClinGen gnomAD |
|
|
CA190468413 rs1045845531 |
458 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752605587 CA5001557 |
459 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751816024 CA5001477 |
460 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1284908023 CA373040764 |
460 | P>S | No |
ClinGen gnomAD |
|
|
rs1302668755 CA373040713 |
463 | F>L | No |
ClinGen TOPMed |
|
|
CA5001476 rs765099690 |
463 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758536483 CA5001475 |
465 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258440804 CA373040659 |
467 | S>L | No |
ClinGen TOPMed |
|
|
rs759976308 CA5001472 |
468 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs371188147 CA5001473 |
468 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371188147 CA373040653 |
468 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371748234 CA373040602 |
470 | S>T | No |
ClinGen gnomAD |
|
|
rs368253283 CA5001471 |
472 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368253283 CA190515152 |
472 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368253283 CA373040559 |
472 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001470 rs766865221 |
473 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs761509371 CA5001469 |
474 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA373040395 rs1467896885 |
478 | V>I | No |
ClinGen gnomAD |
|
|
CA190515110 rs891646217 |
479 | L>F | No |
ClinGen gnomAD |
|
|
CA190515089 rs974166748 |
481 | K>N | No |
ClinGen TOPMed |
|
|
CA190515107 rs112839408 |
481 | K>R | No |
ClinGen Ensembl |
|
|
CA5001454 rs375714104 |
485 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373039840 rs1205781590 |
485 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 486 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532206494 CA5001451 |
490 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868433253 CA190514640 |
490 | E>K | No |
ClinGen Ensembl |
|
|
CA5001450 rs766814464 |
492 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA373039704 rs756545345 |
492 | N>K | No |
ClinGen ExAC gnomAD |
|
| rs1360468258 | 492 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373039708 rs1173737244 |
492 | N>S | No |
ClinGen TOPMed |
|
|
CA373039696 rs1383965817 |
493 | E>G | No |
ClinGen gnomAD |
|
|
CA373039682 rs1451223328 |
494 | A>G | No |
ClinGen TOPMed |
|
|
rs751153471 CA5001448 |
495 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1363153592 CA373039663 |
496 | S>C | No |
ClinGen TOPMed |
|
|
rs763867424 CA5001447 |
498 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373039607 rs1415813553 |
501 | E>* | No |
ClinGen gnomAD |
|
|
rs774995466 CA5001444 |
506 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764737381 CA5001443 |
507 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373039476 rs1385619384 |
511 | D>G | No |
ClinGen gnomAD |
|
|
CA373039485 rs1443985735 |
511 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770680634 CA373039436 |
513 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001440 rs770680634 |
513 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001441 rs199865674 |
513 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA190514580 rs770680634 |
513 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001439 rs147787866 |
514 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146554163 CA5001437 |
516 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001438 rs146554163 |
516 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373039372 rs1403620553 |
517 | E>D | No |
ClinGen gnomAD |
|
|
rs1564007953 CA373039386 |
517 | E>K | No |
ClinGen Ensembl |
|
|
rs199958062 CA5001435 |
518 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475426715 CA373039334 |
519 | S>G | No |
ClinGen gnomAD |
|
|
CA190514534 rs917252880 |
520 | A>P | No |
ClinGen TOPMed |
|
|
rs1588597686 CA373039273 |
523 | G>R | No |
ClinGen Ensembl |
|
|
CA373039220 rs1294446767 |
526 | P>Q | No |
ClinGen gnomAD |
|
|
rs1324270906 CA373039224 |
526 | P>S | No |
ClinGen gnomAD |
|
|
CA190514527 rs771642835 |
528 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1382473475 CA373039184 |
528 | K>R | No |
ClinGen gnomAD |
|
|
CA373039154 rs1300809482 |
529 | K>E | No |
ClinGen gnomAD |
|
|
CA373039119 rs1423925859 |
529 | K>N | No |
ClinGen gnomAD |
|
|
rs1426696343 CA373039102 |
530 | S>G | No |
ClinGen TOPMed |
|
|
CA373039091 rs1184555182 |
530 | S>N | No |
ClinGen gnomAD |
|
|
rs996106216 CA190514512 |
530 | S>R | No |
ClinGen TOPMed |
|
| rs34558496 | 530 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755140796 CA5001433 |
532 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001432 rs780759471 |
539 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001431 rs780759471 |
539 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA190514493 rs746401959 |
539 | H>Y | No |
ClinGen Ensembl |
|
|
rs756425032 CA5001430 |
541 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373038778 rs1198800722 |
542 | E>K | No |
ClinGen gnomAD |
|
|
COSM1569328 rs1490640007 CA373038750 |
543 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1448749664 CA373038206 |
544 | V>F | No |
ClinGen gnomAD |
|
|
rs1336288456 CA373038187 |
546 | R>G | No |
ClinGen gnomAD |
|
|
rs781567439 CA5001409 |
546 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297480394 CA373038170 |
547 | A>V | No |
ClinGen TOPMed |
|
|
CA5001408 rs373829082 |
548 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470014501 CA373038129 COSM2155392 |
550 | S>P | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1396727756 CA373038087 |
552 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5001406 VAR_062243 rs41269003 |
552 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1443198208 CA373038073 |
553 | P>L | No |
ClinGen gnomAD |
|
|
CA5001405 rs754470039 |
553 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1564006859 CA373038054 |
554 | Q>H | No |
ClinGen Ensembl |
|
|
CA373038046 rs1242958420 |
555 | L>V | No |
ClinGen gnomAD |
|
|
rs1202629912 CA373038015 |
556 | S>C | No |
ClinGen gnomAD |
|
|
rs1202629912 CA373038009 |
556 | S>F | No |
ClinGen gnomAD |
|
|
rs765822489 CA5001403 |
560 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1202873243 CA373037935 |
561 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA373037937 rs1202873243 |
561 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA373037928 rs1349806933 |
562 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373037850 rs1482238590 |
566 | L>I | No |
ClinGen TOPMed |
|
|
CA5001402 rs760613378 |
566 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5001399 rs761753002 |
567 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767313431 CA5001400 |
567 | I>V | No |
ClinGen ExAC |
|
|
CA373037817 rs1314183476 |
568 | D>N | No |
ClinGen gnomAD |
|
|
rs1204279913 CA373037802 |
568 | D>V | No |
ClinGen TOPMed |
|
|
CA5001398 rs774706140 |
569 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs376326123 CA5001396 |
571 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376326123 CA373037761 |
571 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753454225 CA5001394 |
574 | P>* | No |
ClinGen ExAC gnomAD |
|
|
rs769782933 CA5001393 |
574 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA190511282 rs1039152894 |
575 | F>S | No |
ClinGen Ensembl |
|
|
rs1443376934 CA373037694 |
575 | F>V | No |
ClinGen gnomAD |
|
|
CA373037644 rs1262026847 |
578 | R>G | No |
ClinGen gnomAD |
|
|
rs1190220580 CA373037617 |
579 | N>D | No |
ClinGen gnomAD |
|
|
CA373037564 rs746342417 |
582 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001392 rs746342417 |
582 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5001390 rs144281526 |
583 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144281526 CA5001391 |
583 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754587417 CA5001389 |
583 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373037528 rs977749209 |
584 | T>A | No |
ClinGen gnomAD |
|
|
CA190511222 rs977749209 |
584 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 584 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 585 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445888415 CA373037485 |
586 | E>G | No |
ClinGen gnomAD |
|
|
CA190511214 rs866613174 |
586 | E>K | No |
ClinGen Ensembl |
|
|
rs1317900432 CA373037433 |
588 | L>W | No |
ClinGen gnomAD |
|
|
CA373036948 rs1230900798 |
590 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373036926 rs1296335582 |
592 | I>M | No |
ClinGen gnomAD |
|
|
CA373036888 rs1458349349 |
596 | W>* | No |
ClinGen gnomAD |
|
|
CA373036864 rs1197103550 |
598 | K>I | No |
ClinGen TOPMed |
|
|
CA5001353 rs761132054 |
600 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373036822 rs1173864254 |
602 | M>V | No |
ClinGen TOPMed |
|
|
rs1297904229 CA373036755 |
607 | T>S | No |
ClinGen gnomAD |
|
|
rs1400522840 CA373036749 |
608 | K>E | No |
ClinGen gnomAD |
|
|
CA373036737 rs1332913155 |
609 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA190510129 rs367638975 |
610 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA373036717 rs1467948250 |
610 | P>S | No |
ClinGen gnomAD |
|
|
CA5001348 rs769268526 |
612 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745549811 CA5001347 |
612 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405735188 CA373036677 |
613 | M>V | No |
ClinGen gnomAD |
|
|
rs1440047479 CA373036626 |
615 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs62622380 CA5001345 |
615 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001342 rs777902982 |
623 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5001343 rs746908235 |
623 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752501546 CA5001340 |
626 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241556041 CA373036450 |
627 | V>A | No |
ClinGen gnomAD |
|
|
CA5001339 rs531770196 |
627 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755095754 CA5001338 |
629 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766416871 CA5001336 |
630 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266536029 CA373036414 |
630 | N>S | No |
ClinGen TOPMed |
|
|
rs748614956 CA190510058 |
636 | M>V | No |
ClinGen Ensembl |
|
|
CA5001333 rs773696098 |
637 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001332 rs199833421 |
640 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1003879551 CA190510045 |
641 | L>S | No |
ClinGen TOPMed |
|
|
CA373036245 rs1157952578 |
642 | E>V | No |
ClinGen gnomAD |
|
|
CA5001331 rs146502464 |
643 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774523829 CA373036236 |
643 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774523829 CA5001330 |
643 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769090377 CA5001329 |
644 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA373036208 rs1423402657 |
647 | D>H | No |
ClinGen gnomAD |
|
|
rs772919456 CA190510030 |
648 | F>I | No |
ClinGen Ensembl |
|
|
rs149943869 CA5001328 |
648 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373036177 rs1484916020 |
649 | G>V | No |
ClinGen gnomAD |
|
|
CA373036170 rs1392051975 |
650 | Q>* | No |
ClinGen TOPMed |
|
|
rs1217969097 CA373036168 |
650 | Q>R | No |
ClinGen gnomAD |
|
|
CA373036151 rs1245731798 |
652 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375926879 CA5001323 |
653 | L>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373036118 rs1326929180 |
654 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 656 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373036093 rs1335177956 |
656 | E>G | No |
ClinGen TOPMed |
|
|
CA373036062 rs748127295 |
659 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373036055 rs1232532387 |
659 | I>M | No |
ClinGen gnomAD |
|
|
CA5001322 rs748127295 |
659 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001321 rs150754068 |
661 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA190509966 rs149757913 |
662 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754844105 CA5001320 |
662 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 663 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270814160 CA373036008 |
664 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 666 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750439820 CA5001316 |
667 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750439820 CA5001317 |
667 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368870304 CA373035973 |
669 | H>R | No |
ClinGen gnomAD |
|
|
rs1239551961 CA373035975 |
669 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 670 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001314 rs762181341 |
672 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5001313 rs752136153 |
673 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001312 rs764332656 |
673 | S>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_024926 rs10511670 CA5001311 |
674 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5001309 rs147144205 CA5001308 |
675 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373035938 rs565164551 |
675 | I>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs372663494 CA5001307 |
675 | I>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs147144205 CA5001310 |
675 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001306 rs143374581 |
677 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001305 rs138541318 |
678 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5001304 rs778960278 |
679 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373035907 rs1452279811 |
680 | T>I | No |
ClinGen TOPMed |
|
|
CA373035910 rs1404171532 |
680 | T>S | No |
ClinGen TOPMed |
|
|
CA5001303 rs554778233 |
681 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373035893 rs181118909 |
682 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 682 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373035895 rs1342248033 |
682 | N>S | No |
ClinGen gnomAD |
|
|
CA373035873 rs1259493350 |
685 | D>G | No |
ClinGen TOPMed |
|
|
CA5001299 rs750669925 |
686 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA190509806 rs374074360 |
688 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 689 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554017283 CA5001298 |
689 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757394902 CA5001297 |
690 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478826626 CA373035830 |
691 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373035833 rs1376904267 |
691 | V>L | No |
ClinGen gnomAD |
|
|
rs1564006039 CA373035813 |
694 | K>E | No |
ClinGen Ensembl |
|
|
COSM257087 rs763219876 CA5001294 |
696 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs947654102 CA190509728 |
699 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373035773 rs947654102 |
699 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs574489899 CA5001291 |
703 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574489899 CA5001292 |
703 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564006002 CA373035711 |
704 | K>E | No |
ClinGen Ensembl |
|
|
rs1319351408 CA373035704 |
704 | K>R | No |
ClinGen gnomAD |
|
|
rs1272626553 CA373035584 |
709 | S>R | No |
ClinGen gnomAD |
|
|
rs771461771 CA5001289 |
710 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62619766 CA5001288 |
710 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303061851 CA373035554 |
711 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774152882 CA5001287 |
715 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774152882 CA373035412 |
715 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1361613053 CA373035391 |
716 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749240428 CA5001285 |
718 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA373035349 rs1332272388 |
718 | V>F | No |
ClinGen gnomAD |
|
|
rs1332272388 CA373035351 |
718 | V>L | No |
ClinGen gnomAD |
|
|
CA373035327 rs1219243429 |
719 | G>S | No |
ClinGen TOPMed |
|
|
CA373035316 rs1588592827 |
720 | N>D | No |
ClinGen Ensembl |
|
|
rs1172076128 CA373035304 |
720 | N>S | No |
ClinGen gnomAD |
|
|
rs951008205 CA190509677 |
721 | R>G | No |
ClinGen TOPMed |
|
|
CA373035266 rs1379905446 |
722 | I>V | No |
ClinGen gnomAD |
|
|
rs113547478 CA5001283 |
723 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781522340 CA5001279 CA373035181 |
725 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373035157 rs1239218258 |
726 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198864639 CA373035142 |
727 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1199399463 CA373035132 |
728 | S>G | No |
ClinGen gnomAD |
|
|
CA5001278 rs757268773 |
731 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs538119546 CA373034998 CA5001277 |
732 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373034976 rs1309796741 |
733 | M>I | No |
ClinGen gnomAD |
|
|
CA373034989 rs1348764281 |
733 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373034935 rs1380877557 |
735 | I>K | No |
ClinGen gnomAD |
|
|
CA373034924 rs1333537127 |
735 | I>M | No |
ClinGen gnomAD |
|
|
CA373034916 rs1404489652 |
736 | L>F | No |
ClinGen gnomAD |
|
|
CA373034920 rs1415142801 |
736 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 737 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373034829 rs1488825125 |
739 | L>F | No |
ClinGen TOPMed |
|
|
CA5001275 rs758915364 |
743 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs753278112 CA5001274 |
743 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373034684 rs1432631377 |
745 | K>I | No |
ClinGen TOPMed |
|
|
rs1186173099 CA373034665 |
746 | P>L | No |
ClinGen gnomAD |
|
|
rs1176937735 CA373034672 |
746 | P>S | No |
ClinGen TOPMed |
|
|
CA190509587 rs1023848823 |
749 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373034648 rs1023848823 |
749 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA373034643 rs1214354274 |
749 | N>S | No |
ClinGen gnomAD |
|
|
CA373034588 rs767268752 |
752 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5001270 rs767268752 |
752 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs761378315 CA373034539 CA373034534 |
753 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001268 rs773856977 |
756 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA373034392 rs1564005903 |
758 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5001267 rs763537717 |
759 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 760 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001266 rs762842123 |
761 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5001265 rs4977493 VAR_024927 |
761 | S>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769550922 CA5001264 |
762 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001263 rs199727248 |
764 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373034238 rs527919595 |
765 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001261 rs527919595 |
765 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527919595 CA5001262 |
765 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001258 rs189673127 |
770 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373034143 rs1284883648 |
770 | D>H | No |
ClinGen TOPMed |
|
|
CA5001257 rs184378901 |
773 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373034084 rs1472961093 |
773 | F>L | No |
ClinGen gnomAD |
|
|
rs779622045 CA5001255 |
776 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141308291 CA190509388 |
777 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001254 rs755390338 |
777 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1461647 CA373033989 rs1449630164 |
778 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA373034009 COSM1107603 rs1218760161 |
778 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs141501503 CA5001252 |
779 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373033970 rs756887821 |
780 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5001250 rs377309779 |
780 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001251 rs756887821 |
780 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775389859 CA5001248 |
781 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1476458428 CA5001245 |
781 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373033952 rs1476458428 |
781 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775389859 CA5001247 |
781 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776427843 CA5001242 |
782 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001240 rs760910824 |
784 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA373033882 rs1324621378 |
785 | G>V | No |
ClinGen gnomAD |
|
|
rs768525992 CA190509346 |
786 | H>R | No |
ClinGen gnomAD |
|
|
rs1167873173 CA373033845 |
788 | S>N | No |
ClinGen gnomAD |
|
|
CA373033850 rs1415543962 |
788 | S>R | No |
ClinGen gnomAD |
|
|
CA5001239 rs145639916 |
790 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001238 rs375476349 |
792 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748306154 CA5001237 |
792 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5001235 rs140508604 |
793 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140508604 CA5001236 |
793 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373033785 rs140508604 |
793 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373033777 rs1222046844 |
794 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA373033775 rs1222046844 |
794 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1453492706 CA373033762 |
795 | S>* | No |
ClinGen gnomAD |
|
|
rs561181097 CA5001233 |
796 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749784720 CA5001234 |
796 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA373033730 rs1564005738 |
798 | N>K | No |
ClinGen Ensembl |
|
|
rs756480163 CA5001232 |
798 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373033729 rs1280255585 |
799 | F>V | No |
ClinGen gnomAD |
|
|
CA5001229 rs777456054 |
801 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA373033694 rs1355685976 |
802 | E>K | No |
ClinGen gnomAD |
|
|
CA5001228 rs757894954 |
804 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs542826832 CA5001227 |
804 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA190509231 rs542826832 |
804 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1398613680 CA373033637 |
807 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1231432020 CA373033630 |
807 | M>R | No |
ClinGen gnomAD |
|
|
rs1398613680 CA373033638 |
807 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373033617 rs1328847153 |
808 | H>R | No |
ClinGen gnomAD |
|
|
CA373033604 rs1464827992 |
809 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA373033591 rs1180261363 |
811 | T>A | No |
ClinGen TOPMed |
|
|
CA5001226 rs764737576 |
812 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001225 rs370946839 |
813 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431308754 CA373033555 |
815 | D>H | No |
ClinGen gnomAD |
|
|
rs1191515028 CA373033539 |
816 | V>F | No |
ClinGen gnomAD |
|
|
rs1236186675 CA373033527 |
817 | V>A | No |
ClinGen gnomAD |
|
|
rs142674219 CA5001223 |
817 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773565485 CA5001219 |
818 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs773565485 CA5001220 |
818 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA373033508 rs1564005683 |
819 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 820 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 820 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373033495 rs1330159081 |
820 | R>S | No |
ClinGen TOPMed |
|
|
CA373033490 rs1429691348 |
821 | Q>* | No |
ClinGen gnomAD |
|
|
rs368360263 CA373033473 |
821 | Q>H | No |
ClinGen ESP ExAC |
|
|
CA373033451 rs1208138874 |
823 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs762141378 CA5001215 |
824 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 830 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001212 rs148883960 |
831 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 831 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001211 rs770185012 |
831 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770185012 CA5001210 |
831 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373033334 rs1382319745 |
832 | A>S | No |
ClinGen gnomAD |
|
|
rs370568570 CA5001209 |
832 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373033325 rs1299336950 |
833 | L>F | No |
ClinGen gnomAD |
|
|
CA5001208 rs781537353 |
834 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376889777 CA5001207 |
834 | R>H | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373033290 rs1176672577 |
836 | R>G | No |
ClinGen gnomAD |
|
|
rs992510729 CA190509080 |
836 | R>T | No |
ClinGen TOPMed |
|
|
CA5001206 CA373033269 rs145576393 |
837 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA861845072 rs1252132048 |
837 | Y>* | No |
ClinGen Ensembl |
|
|
CA373033271 rs1182275134 |
837 | Y>C | No |
ClinGen TOPMed |
|
|
rs1378180924 CA373033265 |
838 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1378180924 CA373033263 |
838 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5001204 rs754485651 |
839 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167714562 CA373033225 |
841 | K>R | No |
ClinGen gnomAD |
|
|
rs372627388 CA5001201 |
843 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372627388 CA5001202 |
843 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750186906 CA5001200 |
844 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA373033166 rs1021704117 |
845 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373033177 rs1482956015 |
845 | S>P | No |
ClinGen gnomAD |
|
|
CA190509030 rs1021704117 |
845 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201053056 CA5001198 |
847 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 847 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373033135 rs1285680109 |
847 | K>R | No |
ClinGen gnomAD |
|
|
rs774757352 CA5001197 |
848 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001196 rs764215815 |
848 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs202204478 CA190508973 |
850 | E>G | No |
ClinGen 1000Genomes |
|
|
CA5001195 rs763005651 |
851 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1308655567 CA373033092 |
851 | S>P | No |
ClinGen gnomAD |
|
|
CA5001193 rs746397608 |
852 | Y>* | No |
ClinGen ExAC |
|
|
CA5001194 rs201292604 |
852 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA373033068 rs1302924849 |
853 | L>H | No |
ClinGen gnomAD |
|
|
rs149710112 CA5001191 |
854 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373033045 rs1157786874 |
855 | N>T | No |
ClinGen gnomAD |
|
|
CA5001189 rs747767076 |
856 | S>F | No |
ClinGen ExAC |
|
|
rs778585106 CA5001188 |
857 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs1420055271 CA373033004 |
858 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1365374049 CA373033001 |
859 | P>T | No |
ClinGen gnomAD |
|
|
CA5001186 rs779630649 |
860 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414538946 CA373032981 |
860 | E>G | No |
ClinGen gnomAD |
|
|
CA5001185 rs779630649 |
860 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 865 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001183 rs755958388 |
865 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767392547 CA5001181 |
867 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1290422613 CA373032906 |
867 | S>N | No |
ClinGen gnomAD |
|
|
CA373032897 rs929669453 |
868 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 868 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929669453 CA190508887 |
868 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373032899 rs929669453 |
868 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA190508875 rs556111763 |
869 | T>A | No |
ClinGen 1000Genomes |
|
|
CA373032866 rs1320759743 |
870 | P>L | No |
ClinGen gnomAD |
|
|
CA5001179 rs537866681 |
871 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373032841 rs1337831949 |
872 | N>H | No |
ClinGen gnomAD |
|
|
rs764294007 CA5001178 |
873 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373032797 rs1400604472 |
875 | T>A | No |
ClinGen gnomAD |
|
|
rs763237625 CA5001177 |
876 | D>N | No |
ClinGen ExAC |
|
|
CA5001175 rs775370546 |
877 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373032775 rs1386871395 |
877 | D>N | No |
ClinGen gnomAD |
|
|
rs373566745 CA190508854 |
878 | T>M | No |
ClinGen ESP ExAC TOPMed |
|
|
rs373566745 CA5001174 |
878 | T>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA373032752 rs1457540061 |
880 | N>K | No |
ClinGen gnomAD |
|
|
CA373032738 rs1476863575 |
882 | L>W | No |
ClinGen gnomAD |
|
|
CA373032735 rs1195018086 |
883 | D>H | No |
ClinGen gnomAD |
|
|
CA373032733 rs1195018086 |
883 | D>Y | No |
ClinGen gnomAD |
|
|
rs747431956 CA5001169 |
884 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5001167 rs768136354 |
885 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs748993742 CA5001166 |
887 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5001165 COSM1461645 rs779393569 |
888 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs539787370 CA190508745 |
889 | T>S | No |
ClinGen gnomAD |
|
|
rs755693702 CA5001164 |
891 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA373032678 rs755693702 |
891 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs141588958 CA5001163 |
892 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001161 rs757118497 |
895 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373032640 rs1386036468 |
897 | R>C | No |
ClinGen gnomAD |
|
|
rs763959516 CA5001159 |
897 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5001160 rs763959516 |
897 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001158 rs148788726 |
898 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001156 rs765197712 |
899 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759660216 CA373032627 |
900 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759660216 CA5001155 |
900 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754329035 CA5001154 |
901 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373032607 rs1434102885 |
903 | R>T | No |
ClinGen gnomAD |
|
|
CA5001153 rs200841251 |
904 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772520397 CA5001150 |
905 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772520397 CA5001151 |
905 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761183330 CA5001152 COSM293135 |
905 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201569576 CA190508611 |
906 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201569576 CA5001148 |
906 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5001149 rs373281093 |
906 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341334270 COSM1756096 CA373032589 |
907 | L>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA373032579 rs1254137130 |
908 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA190508596 rs369340619 |
909 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239127291 CA373032575 |
909 | P>L | No |
ClinGen TOPMed |
|
|
CA5001147 rs369340619 |
909 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540197149 CA190508588 |
911 | I>F | No |
ClinGen Ensembl |
|
|
rs1018703810 CA190508573 |
911 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5001146 rs745442158 |
912 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA373032550 rs1376467824 |
913 | F>L | No |
ClinGen gnomAD |
|
|
CA373032540 rs1332078509 |
915 | P>L | No |
ClinGen gnomAD |
|
|
rs1332078509 CA373032538 |
915 | P>R | No |
ClinGen gnomAD |
|
|
rs780857812 CA5001145 |
917 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA5001143 rs746985070 |
918 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375735715 CA5001140 |
924 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5001141 rs758251788 |
924 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182125021 CA373032472 |
926 | C>R | No |
ClinGen gnomAD |
|
|
CA5001138 rs551959406 |
927 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753857767 CA5001137 |
928 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5001136 rs538308637 |
930 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237731033 CA373032437 |
931 | L>P | No |
ClinGen gnomAD |
|
|
CA5001133 rs143390652 |
934 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA190508511 rs199703543 |
935 | K>M | No |
ClinGen 1000Genomes |
|
|
rs762299116 CA5001132 |
935 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 937 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201056474 CA5001101 |
937 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs755821951 | 937 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5001096 rs529319617 |
938 | D>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs749487544 CA5001100 |
938 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749487544 CA5001099 |
938 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1485341363 CA373031691 |
939 | I>V | No |
ClinGen TOPMed |
|
|
rs140286860 CA5001095 |
942 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1242431673 CA373031642 |
943 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs745890823 CA5001094 |
943 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001091 rs752147454 |
949 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764525945 CA5001090 |
950 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5001087 rs372844925 |
952 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs528514229 CA5001086 |
954 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528514229 CA373031524 |
954 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373031528 rs1395008027 |
954 | T>P | No |
ClinGen TOPMed |
No associated diseases with Q7Z4H7
No regional properties for Q7Z4H7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z4H7 | |||
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| HAUS complex | A protein complex that localizes to interphase centrosomes and to mitotic spindle tubules and regulates mitotic spindle assembly and centrosome integrity; in human, the complex consists of eight subunits, some of which are homologous to subunits of the Drosophila Augmin complex. |
| mitotic spindle microtubule | Any microtubule that is part of a mitotic spindle; anchored at one spindle pole. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| centrosome cycle | The cell cycle process in which centrosome duplication and separation takes place. The centrosome cycle can operate with a considerable degree of independence from other processes of the cell cycle. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| spindle assembly | The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSASVTAFE | KEHLWMYLQA | LGFEPGPATI | ACGKIVSHTH | LGVNMFDKLN | RDAFHIISYF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFQVLDQSLT | KEVFKFCWPP | FDQKSDTEFR | KHCCEWIKRI | SGECGSSFPQ | VVGSLFLSPG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GPKFIHLMYH | FARFVAMKYI | KSNSKNSSHH | FVETFNIKPQ | DLHKCIARCH | FARSRFLQIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRQDCVTQKY | QENAQLSVKQ | VRNLRSECIG | LENQIKKMEP | YDDHSNMEEK | IQKVRSLWAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VNETLMFLEK | EREVVSSVLS | LVNQYALDGT | NVAINIPRLL | LDKIEKQMFQ | LHIGNVYEAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLNLLTVIQL | LNEVLKVMKY | ERCQADQARL | TVDLHYLEKE | TKFQKERLSD | LKHMRYRIKD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLTTIRHSVV | EKQGEWHKKW | KEFLGLSPFS | LIKGWTPSVD | LLPPMSPLSF | DPASEEVYAK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SILCQYPASL | PDAHKQHNQE | NGCRGDSDTL | GALHDLANSP | ASFLSQSVSS | SDRNSVTVLE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KDTKMGTPKE | KNEAISKKIP | EFEVENSPLS | DVAKNTESSA | FGGSLPAKKS | DPFQKEQDHL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VEEVARAVLS | DSPQLSEGKE | IKLEELIDSL | GSNPFLTRNQ | IPRTPENLIT | EIRSSWRKAI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EMEENRTKEP | IQMDAEHREV | LPESLPVLHN | QREFSMADFL | LETTVSDFGQ | SHLTEEKVIS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DCECVPQKHV | LTSHIDEPPT | QNQSDLLNKK | VICKQDLECL | AFTKLSETSR | METFSPAVGN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RIDVMGGSEE | EFMKILDHLE | VSCNKPSTNK | TMLWNSFQIS | SGISSKSFKD | NDFGILHETL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PEEVGHLSFN | SSSSSEANFK | LEPNSPMHGG | TLLEDVVGGR | QTTPESDFNL | QALRSRYEAL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KKSLSKKREE | SYLSNSQTPE | RHKPELSPTP | QNVQTDDTLN | FLDTCDLHTE | HIKPSLRTSI |
| 910 | 920 | 930 | 940 | 950 | |
| GERKRSLSPL | IKFSPVEQRL | RTTIACSLGE | LPNLKEEDIL | NKSLDAKEPP | SDLTR |