Q9UKX3
Gene name |
MYH13 |
Protein name |
Myosin-13 |
Names |
Myosin heavy chain 13 , Myosin heavy chain, skeletal muscle, extraocular , MyHC-EO , Myosin heavy chain, skeletal muscle, laryngeal , MyHC-IIL , Superfast myosin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8735 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
80-783 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Morck MM et al. (2022) "Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function", eLife, 11,
Autoinhibited structure

Activated structure

1 structures for Q9UKX3
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9UKX3-F1 | Predicted | AlphaFoldDB |
1740 variants for Q9UKX3
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA8386904 rs779799056 |
2 | S>N | No |
ClinGen ExAC gnomAD |
|
CA8386900 CA8386899 rs34042358 |
4 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398116983 rs1432617524 |
4 | D>N | No |
ClinGen TOPMed |
|
rs777976810 CA8386898 |
5 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398116795 rs1257496548 |
9 | I>S | No |
ClinGen gnomAD |
|
rs756301490 CA8386897 |
12 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs919807102 CA287745700 |
13 | A>E | No |
ClinGen TOPMed |
|
CA398116662 rs1347862940 |
13 | A>S | No |
ClinGen TOPMed |
|
rs1288667879 CA398116590 |
14 | A>D | No |
ClinGen TOPMed |
|
rs1482337210 CA398116545 |
15 | P>L | No |
ClinGen gnomAD |
|
rs267604695 CA8386894 |
16 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386896 rs376730859 |
16 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758069349 CA8386893 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
CA398116469 rs1311955222 |
18 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA8386892 rs369838383 |
18 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1160212113 CA398116297 |
23 | E>V | No |
ClinGen TOPMed |
|
CA8386889 rs776603506 |
25 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1358232081 CA398116178 |
26 | E>A | No |
ClinGen gnomAD |
|
CA8386887 rs760267642 |
26 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386888 rs763567078 |
26 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386885 rs375914636 |
27 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
CA8386886 rs774959218 |
27 | A>P | No |
ClinGen ExAC gnomAD |
|
rs375914636 CA398116113 |
27 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
CA398116108 rs1187515660 |
28 | Q>K | No |
ClinGen gnomAD |
|
rs1422563864 CA398116060 |
29 | N>S | No |
ClinGen gnomAD |
|
rs780968912 CA398116041 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs780968912 CA287745608 |
30 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA8386884 rs746153983 |
30 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398116023 rs1487965855 |
31 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs369233539 COSM3387698 CA8386880 |
33 | D>N | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs369233539 CA8386881 |
33 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386879 rs756096111 |
34 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1242589341 CA398115945 |
35 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 37 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398115881 rs1342288391 |
37 | A>V | No |
ClinGen gnomAD |
|
CA398115802 rs1337701829 |
40 | V>E | No |
ClinGen gnomAD |
|
CA8386876 rs200562850 |
41 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200562850 CA8386877 |
41 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757087427 CA8386873 |
43 | N>K | No |
ClinGen ExAC gnomAD |
|
CA398115703 rs1204551814 |
46 | M>I | No |
ClinGen gnomAD |
|
rs1214366728 CA398115709 |
46 | M>T | No |
ClinGen TOPMed |
|
CA398115692 rs764044447 |
47 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386871 rs764044447 |
47 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386872 rs753737467 |
47 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA8386870 rs201528492 |
50 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201528492 CA8386869 |
50 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398115633 rs1269526818 |
51 | M>I | No |
ClinGen gnomAD |
|
rs767003404 CA8386868 |
52 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386866 rs774186622 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
CA398115582 rs1597390469 |
55 | R>K | No |
ClinGen Ensembl |
|
CA8386864 rs749692050 |
56 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA287745507 rs544749229 |
57 | N>T | No |
ClinGen Ensembl |
|
CA398115530 rs1315574147 |
58 | D>E | No |
ClinGen gnomAD |
|
rs1217892977 CA398115542 |
58 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1217892977 CA398115539 |
58 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 58 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386862 rs150764122 |
59 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs766853069 CA8386860 |
60 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs766853069 CA8386859 |
60 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA398115499 rs376720984 |
61 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386858 rs376720984 |
61 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398115485 rs1321103440 |
62 | V>A | No |
ClinGen gnomAD |
|
rs781315845 CA398115463 |
64 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781315845 CA8386857 |
64 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386855 rs747205288 |
66 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755058556 CA398115440 |
66 | D>H | No |
ClinGen ExAC gnomAD |
|
rs755058556 CA8386856 |
66 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 66 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287745447 rs1044104439 |
67 | D>H | No |
ClinGen Ensembl |
|
rs372048764 CA8386854 |
68 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375506104 CA8386852 |
68 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs372048764 CA8386853 |
68 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1239888821 CA398114360 |
75 | D>N | No |
ClinGen gnomAD |
|
rs894490314 CA287744427 |
75 | D>V | No |
ClinGen Ensembl |
|
TCGA novel | 76 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754477807 CA8386828 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA398114293 rs1567673321 |
77 | V>I | No |
ClinGen Ensembl |
|
CA287744423 rs1056173087 CA398114243 |
78 | F>L | No |
ClinGen gnomAD |
|
rs766050837 CA8386826 |
79 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8386827 rs766050837 |
79 | P>R | No |
ClinGen ExAC gnomAD |
|
CA8386825 rs762678417 |
80 | M>R | No |
ClinGen ExAC gnomAD |
|
CA398114162 rs750087816 |
81 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287744408 rs150555511 COSM109338 |
81 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1421826345 CA398114148 |
82 | P>H | No |
ClinGen gnomAD |
|
CA398114154 rs1460988063 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA398114131 rs1361418395 COSM334043 |
83 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs377375716 CA8386821 |
87 | K>Q | No |
ClinGen ESP ExAC |
|
rs1361268933 CA398113978 |
89 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
TCGA novel | 90 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760684375 CA8386819 |
91 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1182419480 CA398113873 |
91 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8386818 rs775545108 |
92 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386817 rs772199350 |
92 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 93 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1284888839 CA398113800 |
93 | M>L | No |
ClinGen gnomAD |
|
rs377107709 CA8386816 |
93 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386815 rs779045374 |
94 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386814 rs775362642 |
95 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1356256540 CA398113681 CA398113684 |
96 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs372871117 CA8386813 |
96 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386812 rs781116210 |
98 | H>N | No |
ClinGen ExAC gnomAD |
|
CA398113628 rs1401937312 |
98 | H>R | No |
ClinGen gnomAD |
|
CA8386811 rs754959075 |
99 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs746998335 CA8386810 |
100 | P>A | No |
ClinGen ExAC gnomAD |
|
CA398113540 rs1351456859 |
100 | P>L | No |
ClinGen gnomAD |
|
CA398113472 rs779684078 |
102 | V>I | No |
ClinGen ExAC gnomAD |
|
CA8386809 rs779684078 |
102 | V>L | No |
ClinGen ExAC gnomAD |
|
rs145355767 CA8386808 |
104 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398113415 rs145355767 |
104 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398113387 rs1374691581 |
105 | N>S | No |
ClinGen TOPMed |
|
CA8386806 rs200117357 |
109 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8386805 rs553455567 COSM1216151 |
109 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA8386807 rs200117357 |
109 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA287744261 rs1025088372 |
113 | W>* | No |
ClinGen TOPMed gnomAD |
|
CA8386802 rs764511154 |
113 | W>* | No |
ClinGen ExAC gnomAD |
|
CA398113173 rs764511154 |
113 | W>C | No |
ClinGen ExAC gnomAD |
|
rs1173864946 CA398113197 |
113 | W>R | No |
ClinGen TOPMed |
|
rs761158793 CA8386801 |
115 | I>F | No |
ClinGen ExAC gnomAD |
|
rs776025803 CA8386800 |
115 | I>M | No |
ClinGen ExAC gnomAD |
|
rs767555564 | 116 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs778563809 CA8386788 |
117 | T>A | No |
ClinGen ExAC gnomAD |
|
CA287744212 rs1024395237 |
117 | T>N | No |
ClinGen Ensembl |
|
CA398112999 rs778563809 |
117 | T>P | No |
ClinGen ExAC gnomAD |
|
CA398112915 rs756858193 |
120 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398112918 rs756858193 |
120 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386787 rs756858193 |
120 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1201130211 CA398112890 |
121 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8386785 rs764421511 |
122 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398112834 rs1202538475 |
123 | C>G | No |
ClinGen gnomAD |
|
rs1202538475 CA398112837 |
123 | C>R | No |
ClinGen gnomAD |
|
rs753163138 CA8386783 |
123 | C>W | No |
ClinGen ExAC gnomAD |
|
rs768024485 CA8386782 |
125 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1597389896 CA398112801 |
125 | T>P | No |
ClinGen Ensembl |
|
CA8386779 rs200689405 |
126 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8386780 rs373255762 |
126 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA398112741 rs1597389892 |
127 | N>T | No |
ClinGen Ensembl |
|
CA398112722 rs1396069386 |
128 | P>H | No |
ClinGen gnomAD |
|
rs1026018811 CA287744173 |
128 | P>S | No |
ClinGen Ensembl |
|
CA8386778 rs560403896 |
129 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386777 rs773604447 |
130 | K>R | No |
ClinGen ExAC gnomAD |
|
rs746826498 CA8386775 |
133 | P>A | No |
ClinGen ExAC gnomAD |
|
CA8386774 rs200502786 |
133 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746826498 CA398112650 |
133 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8386770 rs770526034 |
134 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386771 rs770526034 |
134 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398112629 rs770526034 |
134 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386772 rs745887043 |
134 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8386768 rs748861785 |
135 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA8386766 rs753064696 |
138 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs753064696 CA8386765 |
138 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1597389870 CA398112553 |
139 | V>G | No |
ClinGen Ensembl |
|
CA398112542 rs1597389866 |
140 | V>G | No |
ClinGen Ensembl |
|
CA398112525 rs1453234317 |
141 | A>V | No |
ClinGen gnomAD |
|
CA398112523 rs1469808301 |
142 | A>D | No |
ClinGen TOPMed |
|
CA8386763 rs200552178 |
142 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200552178 CA8386764 |
142 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368632087 CA8386762 |
143 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386761 rs766335653 |
146 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs367783054 CA8386760 COSM1380730 |
148 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs202246911 CA8386759 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs202246911 CA398112423 |
148 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA398112404 rs1203380494 |
149 | Q>R | No |
ClinGen gnomAD |
|
rs879121773 CA287744076 |
151 | A>G | No |
ClinGen gnomAD |
|
rs775424015 CA8386756 |
151 | A>S | No |
ClinGen ExAC gnomAD |
|
CA398112348 rs879121773 |
151 | A>V | No |
ClinGen gnomAD |
|
rs370603078 COSM269660 CA8386755 |
152 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs774388872 CA8386753 |
153 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1432555412 CA398112284 |
157 | S>P | No |
ClinGen gnomAD |
|
CA8386751 rs748820351 |
161 | N>S | No |
ClinGen ExAC gnomAD |
|
CA398112230 rs1420723075 |
162 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA8386750 rs565318480 |
163 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA287744038 rs373267076 |
164 | Q>R | No |
ClinGen ESP TOPMed |
|
rs762116808 CA8386739 |
169 | D>G | No |
ClinGen ExAC gnomAD |
|
rs527748477 COSM975168 CA8386737 |
170 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
rs527748477 CA8386738 |
170 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386736 rs759408071 |
170 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs766342832 CA8386734 |
178 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs774107996 CA8386735 |
178 | T>P | No |
ClinGen ExAC gnomAD |
|
CA8386716 TCGA novel rs201449968 |
179 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
CA8386715 rs762854632 |
180 | E>K | No |
ClinGen ExAC gnomAD |
|
rs773173964 CA8386714 |
181 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs373315937 COSM1380726 CA287742911 |
182 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
rs761332352 CA8386712 |
187 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8386710 rs776086111 |
189 | T>I | No |
ClinGen ExAC gnomAD |
|
CA8386709 rs369304707 |
191 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746709351 CA8386708 |
191 | R>H | No |
ClinGen ExAC gnomAD |
|
CA398110988 rs1179651135 |
192 | V>I | No |
ClinGen gnomAD |
|
CA287742901 rs940194417 |
194 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs996957478 CA287742899 |
196 | F>S | No |
ClinGen gnomAD |
|
CA8386707 rs369031834 |
199 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369031834 CA8386706 |
199 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398110793 rs1238009041 |
200 | A>E | No |
ClinGen TOPMed |
|
rs372245602 CA8386703 |
203 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386704 rs779595380 |
203 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386701 rs777781230 |
204 | D>V | No |
ClinGen ExAC gnomAD |
|
rs1310917259 CA398110732 |
206 | K>R | No |
ClinGen gnomAD |
|
rs1180950374 CA398110714 |
207 | K>R | No |
ClinGen gnomAD |
|
rs752910620 CA8386699 |
208 | E>K | No |
ClinGen ExAC |
|
CA8386698 rs766166284 |
209 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA398110597 rs1277671208 |
214 | M>T | No |
ClinGen gnomAD |
|
CA8386695 rs765170513 |
214 | M>V | No |
ClinGen ExAC gnomAD |
|
rs761244224 CA8386694 |
215 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs951790879 CA287742847 |
215 | Q>R | No |
ClinGen TOPMed |
|
rs1026008896 CA398109892 |
217 | T>I | No |
ClinGen TOPMed |
|
rs1026008896 CA287741816 |
217 | T>N | No |
ClinGen TOPMed |
|
CA398109886 rs1244910244 |
218 | L>V | No |
ClinGen TOPMed |
|
CA398109805 rs1311334545 |
221 | Q>* | No |
ClinGen gnomAD |
|
rs1345631710 CA398109770 |
223 | I>F | No |
ClinGen gnomAD |
|
CA287741804 rs376655371 |
224 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
rs376655371 CA398109746 |
224 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs778748951 CA8386675 |
225 | A>D | No |
ClinGen ExAC gnomAD |
|
CA287741802 rs898339849 |
225 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs778748951 CA398109714 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8386674 rs757208790 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1038166078 CA287741787 |
227 | P>L | No |
ClinGen TOPMed |
|
rs1236635102 CA398109651 |
230 | E>Q | No |
ClinGen TOPMed |
|
CA398109561 rs1446472205 |
235 | A>P | No |
ClinGen TOPMed |
|
CA287741776 rs959635659 |
236 | K>T | No |
ClinGen TOPMed |
|
rs187253561 CA8386670 |
237 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1241088005 CA398109495 |
238 | V>A | No |
ClinGen gnomAD |
|
CA398109503 rs1169641782 |
238 | V>L | No |
ClinGen TOPMed |
|
CA398109506 rs1169641782 |
238 | V>M | No |
ClinGen TOPMed |
|
CA287741753 rs889902107 |
241 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1464948975 CA398109436 |
242 | N>S | No |
ClinGen TOPMed |
|
CA398109414 rs1328807284 |
244 | S>L | No |
ClinGen TOPMed |
|
CA398109405 rs1384582173 |
245 | R>G | No |
ClinGen TOPMed |
|
rs759914769 CA8386667 |
245 | R>K | No |
ClinGen ExAC gnomAD |
|
rs564290298 CA8386652 |
247 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755593626 CA8386653 |
247 | G>W | No |
ClinGen ExAC |
|
TCGA novel | 248 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287740569 rs181172997 |
249 | F>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA398108767 rs762057006 |
250 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA287740560 rs762057006 |
250 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs533758694 CA8386649 |
251 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533758694 COSM276206 CA8386650 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs555493153 CA398108751 |
251 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398108740 rs1167941950 |
252 | I>V | No |
ClinGen gnomAD |
|
TCGA novel | 253 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763248621 CA8386647 |
254 | F>L | No |
ClinGen ExAC gnomAD |
|
rs766724928 CA8386648 |
254 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1194660196 CA398108631 |
255 | G>E | No |
ClinGen gnomAD |
|
rs34416201 CA8386646 |
257 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762446282 CA8386644 |
261 | A>S | No |
ClinGen ExAC gnomAD |
|
rs762446282 CA398108521 |
261 | A>T | No |
ClinGen ExAC gnomAD |
|
rs768776843 CA8386642 |
262 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386643 rs776681429 |
262 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386640 rs775725161 |
264 | D>N | No |
ClinGen ExAC gnomAD |
|
rs770711988 CA287740527 |
265 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201854489 CA398108452 |
266 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386638 rs201854489 |
266 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
TCGA novel | 267 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398108415 rs1391875152 |
267 | T>I | No |
ClinGen gnomAD |
|
rs777700355 CA8386637 |
268 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA398107931 rs760770279 |
269 | L>P | No |
ClinGen ExAC gnomAD |
|
CA8386618 rs760770279 |
269 | L>R | No |
ClinGen ExAC gnomAD |
|
CA398107899 rs1418636744 |
271 | E>K | No |
ClinGen gnomAD |
|
CA8386615 rs746169067 |
274 | R>T | No |
ClinGen ExAC gnomAD |
|
CA398107807 rs1485394903 |
276 | T>A | No |
ClinGen gnomAD |
|
CA398107794 rs752162824 |
276 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386612 rs752162824 |
276 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376025206 CA398107721 |
279 | L>S | No |
ClinGen TOPMed |
|
rs571651777 CA287740427 |
280 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
CA8386610 rs372076149 |
281 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1434082437 CA398107670 |
281 | S>N | No |
ClinGen TOPMed |
|
CA398107641 rs1346819186 |
282 | E>D | No |
ClinGen TOPMed |
|
rs1555552085 CA398107542 |
284 | S>I | No |
ClinGen Ensembl |
|
rs1458363691 CA398107514 |
285 | Y>C | No |
ClinGen gnomAD |
|
CA398107401 rs1327840659 |
289 | Y>* | No |
ClinGen gnomAD |
|
CA287740421 rs550213918 |
292 | M>V | No |
ClinGen 1000Genomes TOPMed |
|
rs754479749 CA8386609 |
297 | P>L | No |
ClinGen ExAC gnomAD |
|
CA398107211 rs1306212851 |
298 | E>K | No |
ClinGen TOPMed |
|
rs1032042958 CA287740412 |
300 | I>L | No |
ClinGen gnomAD |
|
rs1349200668 CA398107127 |
300 | I>T | No |
ClinGen TOPMed |
|
rs764502303 CA287740405 |
301 | D>N | No |
ClinGen Ensembl |
|
CA8386587 rs745474321 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1388168076 CA398106857 |
305 | I>S | No |
ClinGen gnomAD |
|
rs1454697931 CA398106851 |
306 | S>T | No |
ClinGen gnomAD |
|
CA398106818 rs1289360198 |
307 | T>A | No |
ClinGen Ensembl |
|
CA8386586 rs533463652 |
309 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533463652 CA398106759 |
309 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1252118536 CA398106777 |
309 | P>S | No |
ClinGen gnomAD |
|
CA8386584 rs371327620 COSM262211 |
311 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1194670788 CA398106695 |
312 | F>Y | No |
ClinGen gnomAD |
|
rs1336875025 CA398106690 |
313 | P>A | No |
ClinGen gnomAD |
|
rs778178411 CA8386583 |
313 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336875025 CA398106687 |
313 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 314 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM975158 rs374884438 CA398106643 CA8386581 |
315 | V>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs374884438 CA8386580 |
315 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 318 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1434786535 CA398106563 |
319 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs759681965 CA8386579 |
319 | E>K | No |
ClinGen ExAC gnomAD |
|
CA8386577 rs543870333 |
320 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386578 rs370056539 |
320 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1597387995 CA398106516 |
321 | T>A | No |
ClinGen Ensembl |
|
CA8386576 rs763329803 |
321 | T>R | No |
ClinGen ExAC gnomAD |
|
rs768618931 CA8386574 |
322 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8386573 rs760495947 |
325 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386572 rs201107300 |
326 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM472262 rs201107300 CA8386571 |
326 | D>N | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1394429661 CA398106416 |
327 | D>E | No |
ClinGen gnomAD |
|
TCGA novel | 330 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398106369 rs1170535560 |
330 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA398106329 rs778362990 |
333 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386569 COSM3421265 rs778362990 |
333 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 335 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1372887211 CA398105345 |
337 | A>D | No |
ClinGen gnomAD |
|
CA8386528 rs762461041 |
337 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386526 rs370729866 |
338 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777030850 CA8386524 |
340 | I>V | No |
ClinGen ExAC gnomAD |
|
CA398105291 rs1418256013 |
341 | L>P | No |
ClinGen gnomAD |
|
CA287734766 rs909445386 |
342 | G>D | No |
ClinGen Ensembl |
|
rs780730989 CA8386521 |
344 | S>T | No |
ClinGen ExAC gnomAD |
|
rs866127769 CA287734752 |
347 | E>K | No |
ClinGen Ensembl |
|
CA8386517 rs757492935 |
350 | G>R | No |
ClinGen ExAC gnomAD |
|
rs757492935 CA8386518 |
350 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8386516 rs754060262 |
351 | I>F | No |
ClinGen ExAC gnomAD |
|
CA398105142 rs1308145419 |
351 | I>T | No |
ClinGen gnomAD |
|
rs370606170 CA8386515 |
352 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
CA8386514 rs549301178 |
353 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 355 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386513 rs751438660 |
356 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1034299208 CA287734717 |
358 | V>M | No |
ClinGen TOPMed |
|
CA8386510 rs749917953 |
359 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs950906610 CA287734716 |
359 | M>L | No |
ClinGen Ensembl |
|
rs764702353 CA8386509 |
360 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386508 rs761494407 |
361 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386507 rs776177839 |
362 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1166218574 CA398104942 |
363 | N>K | No |
ClinGen gnomAD |
|
rs776074283 CA8386505 |
364 | M>K | No |
ClinGen ExAC gnomAD |
|
rs776074283 CA8386504 |
364 | M>T | No |
ClinGen ExAC gnomAD |
|
rs769014533 CA8386506 |
364 | M>V | No |
ClinGen ExAC gnomAD |
|
rs772702280 CA8386502 |
367 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs550827365 CA287734675 |
368 | Q>R | No |
ClinGen Ensembl |
|
CA8386501 rs35222064 |
370 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386500 rs35222064 |
370 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770959103 CA8386499 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749489630 CA8386498 |
371 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386496 rs754697704 |
372 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 373 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398104774 rs1486580097 |
373 | E>G | No |
ClinGen gnomAD |
|
CA8386495 rs751347030 |
374 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8386493 rs750399073 |
375 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750399073 CA8386492 |
375 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398104735 rs1223964919 |
376 | E>K | No |
ClinGen gnomAD |
|
rs753474918 CA8386489 |
378 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763659496 CA8386488 |
379 | G>R | No |
ClinGen ExAC gnomAD |
|
rs763659496 CA398104687 |
379 | G>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 380 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760092709 CA8386485 |
381 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760092709 CA8386484 |
381 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386483 rs530116625 |
382 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1004439968 CA287731400 |
386 | A>P | No |
ClinGen Ensembl |
|
rs199911320 CA8386462 |
387 | G>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs773138633 CA8386459 |
388 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763569858 CA8386460 |
388 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1242004419 CA398103371 |
389 | L>V | No |
ClinGen gnomAD |
|
rs1030209931 CA287731357 |
391 | G>E | No |
ClinGen TOPMed |
|
TCGA novel | 393 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386458 rs769901698 |
393 | N>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 397 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398103289 rs1364897494 |
397 | M>T | No |
ClinGen gnomAD |
|
CA398103271 rs1319014571 |
399 | K>E | No |
ClinGen gnomAD |
|
CA398103257 rs1567668796 |
400 | G>S | No |
ClinGen Ensembl |
|
CA398103221 rs1391753256 |
403 | C>Y | No |
ClinGen gnomAD |
|
CA398103209 rs1456459546 |
404 | P>S | No |
ClinGen gnomAD |
|
CA398103183 rs1597385897 |
406 | V>G | No |
ClinGen Ensembl |
|
CA8386454 rs745657206 |
407 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757129757 CA8386452 |
408 | V>A | No |
ClinGen ExAC gnomAD |
|
rs778835742 CA8386453 |
408 | V>I | No |
ClinGen ExAC gnomAD |
|
rs749296856 CA8386451 |
409 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1340848483 CA398103146 |
412 | Y>H | No |
ClinGen gnomAD |
|
rs1567668771 CA398103139 |
413 | V>I | No |
ClinGen Ensembl |
|
TCGA novel | 414 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 417 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs367907424 CA8386448 |
417 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767294599 CA8386447 |
417 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA287731279 rs894444649 |
418 | N>Y | No |
ClinGen TOPMed |
|
CA398103100 rs1205253218 |
419 | V>I | No |
ClinGen TOPMed |
|
rs978631566 CA287730247 |
422 | V>M | No |
ClinGen gnomAD |
|
rs770800184 CA8386433 |
424 | N>S | No |
ClinGen ExAC gnomAD |
|
rs777878400 CA8386432 |
425 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM975152 CA8386431 rs777878400 |
425 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs780904779 CA8386428 |
427 | G>A | No |
ClinGen ExAC gnomAD |
|
CA8386429 rs780904779 |
427 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 428 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398103020 rs1409298516 |
429 | L>P | No |
ClinGen gnomAD |
|
rs1368868556 CA398103015 |
430 | A>T | No |
ClinGen gnomAD |
|
CA398102991 rs1314635305 |
432 | A>V | No |
ClinGen gnomAD |
|
rs563762362 COSM1258439 CA8386426 |
433 | V>I | oesophagus urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs780240780 CA8386425 |
434 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750870108 COSM1216145 CA8386423 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs765737054 CA8386422 COSM417210 |
436 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA398102871 rs1255357072 |
441 | M>I | No |
ClinGen gnomAD |
|
rs370306502 CA398102882 CA8386421 |
441 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1597385475 CA398102854 |
442 | V>G | No |
ClinGen Ensembl |
|
CA8386420 rs753903107 |
442 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376714196 COSM1286417 CA8386419 |
444 | R>C | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8386417 COSM975150 rs373857317 |
444 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA8386418 rs373857317 |
444 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8386416 rs770587087 |
445 | I>N | No |
ClinGen ExAC gnomAD |
|
CA287730170 rs868643680 |
446 | N>S | No |
ClinGen Ensembl |
|
CA398102776 rs1209876209 |
448 | Q>* | No |
ClinGen TOPMed |
|
rs1288493981 CA398102735 |
450 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA8386415 rs762822823 |
453 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1348261643 CA398102672 |
454 | P>L | No |
ClinGen gnomAD |
|
CA398102663 rs1228080733 |
455 | R>M | No |
ClinGen gnomAD |
|
CA8386412 rs769838699 |
458 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398102573 rs1171395671 |
460 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs768240121 CA8386409 |
460 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8386410 rs768240121 |
460 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779770066 CA8386407 |
461 | V>D | No |
ClinGen ExAC gnomAD |
|
rs746592925 CA8386408 |
461 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs981237709 CA287730083 |
464 | I>T | No |
ClinGen TOPMed |
|
CA398102501 rs1597385452 |
466 | G>R | No |
ClinGen Ensembl |
|
rs750780303 CA8386405 |
468 | E>* | No |
ClinGen ExAC gnomAD |
|
CA8386403 rs757741470 |
468 | E>D | No |
ClinGen ExAC gnomAD |
|
CA8386404 rs779309283 |
468 | E>G | No |
ClinGen ExAC gnomAD |
|
rs754382430 CA8386402 |
470 | F>S | No |
ClinGen ExAC gnomAD |
|
CA398102410 rs1237421528 |
471 | D>E | No |
ClinGen gnomAD |
|
CA287730060 rs199950439 |
471 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
CA8386401 rs764041996 |
471 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1319688328 CA398102338 |
472 | F>L | No |
ClinGen gnomAD |
|
rs1432384638 CA398102322 |
472 | F>S | No |
ClinGen gnomAD |
|
rs200760926 CA8386389 |
475 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1567668294 CA398102229 |
476 | E>G | No |
ClinGen Ensembl |
|
rs1404243500 CA398102205 |
477 | Q>L | No |
ClinGen gnomAD |
|
CA398102174 rs1451926181 |
479 | C>F | No |
ClinGen TOPMed gnomAD |
|
rs1451926181 CA398102178 |
479 | C>Y | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 480 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597385407 CA398102160 |
480 | I>T | No |
ClinGen Ensembl |
|
CA8386388 rs543041306 |
480 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 481 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749966948 CA8386387 |
481 | N>S | No |
ClinGen ExAC gnomAD |
|
CA287729995 rs767092739 |
484 | N>D | No |
ClinGen Ensembl |
|
rs1222676565 CA398102072 |
484 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs779217472 CA8386386 |
484 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1451095720 CA398102068 |
485 | E>K | No |
ClinGen gnomAD |
|
rs201400464 CA8386384 |
488 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377061497 CA8386381 |
492 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
CA398101933 rs1293745015 |
492 | N>K | No |
ClinGen gnomAD |
|
rs61745301 CA287729978 |
493 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs61745301 CA8386380 |
493 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398101899 rs1461395314 |
494 | H>R | No |
ClinGen TOPMed |
|
rs1330348482 CA398101868 |
495 | M>I | No |
ClinGen gnomAD |
|
rs201212866 CA8386377 |
497 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 498 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755218470 CA8386375 |
499 | E>D | No |
ClinGen ExAC gnomAD |
|
rs370185511 CA8386374 |
500 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377419514 CA8386373 |
503 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
rs1380137986 CA398101704 |
504 | K>N | No |
ClinGen TOPMed |
|
rs761713855 CA8386372 |
504 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA398101684 rs1203016186 |
506 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs776365416 CA8386371 |
506 | E>A | No |
ClinGen ExAC gnomAD |
|
CA398101682 rs1203016186 |
506 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs764086165 CA8386370 |
507 | G>D | No |
ClinGen ExAC gnomAD |
|
CA8386368 rs373641414 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs745482991 CA8386365 |
510 | W>R | No |
ClinGen ExAC gnomAD |
|
rs1428435696 CA398101624 |
511 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA398101621 rs1242710646 |
511 | E>D | No |
ClinGen TOPMed |
|
rs1307948615 CA398101625 |
511 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1307948615 CA398101626 |
511 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA8386364 rs774016181 |
512 | F>L | No |
ClinGen ExAC gnomAD |
|
CA287729786 rs535978962 |
513 | I>T | No |
ClinGen 1000Genomes TOPMed |
|
rs749661272 CA8386362 |
513 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 514 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs201933344 CA8386359 |
516 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8386358 rs538877044 |
517 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8386357 rs755126897 |
519 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386353 rs763845846 |
523 | I>F | No |
ClinGen ExAC gnomAD |
|
CA8386352 rs763845846 |
523 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1436787472 CA398101447 |
523 | I>N | No |
ClinGen TOPMed |
|
rs752607957 CA8386350 |
524 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA624880747 rs1285957853 |
526 | I>F | No |
ClinGen gnomAD |
|
rs766967006 CA398101399 |
526 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1390127234 CA398101403 |
526 | I>T | No |
ClinGen gnomAD |
|
CA398101409 rs1380094747 |
526 | I>V | No |
ClinGen TOPMed |
|
rs759063489 CA8386348 |
527 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747702681 CA287729684 |
528 | K>* | No |
ClinGen Ensembl |
|
CA398100394 rs1159447161 |
530 | M>I | No |
ClinGen TOPMed |
|
rs770135719 CA8386323 |
530 | M>T | No |
ClinGen ExAC gnomAD |
|
rs762087541 CA8386322 |
532 | I>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 533 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386320 rs747566701 |
535 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386319 rs747566701 |
535 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1229612821 CA398100283 |
538 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 538 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398100274 rs1316478304 |
539 | E>K | No |
ClinGen gnomAD |
|
CA287728814 rs989672077 |
540 | C>S | No |
ClinGen TOPMed |
|
CA398100252 rs1391507599 |
541 | M>V | No |
ClinGen gnomAD |
|
rs746055949 CA8386316 |
542 | F>L | No |
ClinGen ExAC gnomAD |
|
rs142873432 CA398100207 |
544 | K>N | No |
ClinGen TOPMed |
|
rs577746666 CA8386314 |
544 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386313 rs747935393 |
545 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1448634375 CA398100175 |
548 | T>A | No |
ClinGen gnomAD |
|
rs754891622 CA8386311 |
549 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA8386309 rs765822763 |
552 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1368026148 CA398100102 |
555 | Y>S | No |
ClinGen TOPMed |
|
rs1277397956 CA398100085 |
556 | D>E | No |
ClinGen gnomAD |
|
rs757857067 CA8386308 |
556 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 557 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386307 rs750021880 |
558 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 559 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1365988433 CA398099997 |
564 | N>K | No |
ClinGen TOPMed |
|
CA398100001 rs1597384989 |
564 | N>T | No |
ClinGen Ensembl |
|
CA398099983 rs1235645391 |
565 | F>L | No |
ClinGen gnomAD |
|
CA398099986 rs1597384985 |
565 | F>S | No |
ClinGen Ensembl |
|
rs1331921725 CA398099963 |
567 | K>R | No |
ClinGen gnomAD |
|
rs144732640 CA398099958 |
568 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144732640 CA287728696 |
568 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144732640 CA8386304 |
568 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764591713 CA8386303 |
569 | K>R | No |
ClinGen ExAC gnomAD |
|
CA398099925 rs1429083876 |
571 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398099904 rs1174132017 |
573 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs776163975 CA8386301 |
573 | G>R | No |
ClinGen ExAC gnomAD |
|
CA398099901 rs1174132017 |
573 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA8386299 rs376404501 |
577 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
CA287728688 rs376404501 |
577 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
rs771048728 CA8386297 |
579 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8386296 rs189677868 |
580 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA8386294 rs368551036 |
582 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
TCGA novel | 583 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386292 rs746888832 |
583 | H>R | No |
ClinGen ExAC |
|
rs1251973607 CA398099785 |
585 | A>T | No |
ClinGen gnomAD |
|
CA398099779 rs754289824 |
586 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754289824 CA8386291 |
586 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386289 rs202065425 |
588 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398099750 rs1202557169 |
590 | Y>C | No |
ClinGen gnomAD |
|
CA398099754 rs1597384944 |
590 | Y>H | No |
ClinGen Ensembl |
|
rs1416740942 CA398099737 |
592 | I>V | No |
ClinGen TOPMed |
|
rs753577706 CA8386286 |
593 | A>T | No |
ClinGen ExAC gnomAD |
|
rs377362051 CA8386285 |
593 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
CA287728598 COSM1630040 rs1049578588 |
594 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
COSM3957963 CA8386283 rs776074215 |
595 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8386282 rs767909153 |
597 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 599 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 600 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386281 rs760149394 |
602 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398099623 rs760149394 |
602 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 603 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 603 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs12938754 CA8386279 CA398099603 |
604 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773432205 CA8386277 |
605 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1412014090 CA398099583 |
606 | T>A | No |
ClinGen gnomAD |
|
rs746799119 CA8386275 |
607 | V>A | No |
ClinGen ExAC gnomAD |
|
CA398099553 rs1432989036 |
609 | G>A | No |
ClinGen gnomAD |
|
CA8386274 rs373360808 |
611 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1308976809 CA398099509 |
614 | S>P | No |
ClinGen TOPMed |
|
rs745858156 CA8386272 COSM435977 |
615 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA398099482 rs1231913964 |
617 | K>Q | No |
ClinGen TOPMed |
|
CA398099480 rs1479434420 |
617 | K>R | No |
ClinGen TOPMed |
|
CA287728524 rs1041086027 |
620 | S>C | No |
ClinGen TOPMed |
|
CA287728520 rs935879905 |
621 | F>L | No |
ClinGen TOPMed |
|
CA398099433 rs1443549177 |
622 | L>F | No |
ClinGen TOPMed |
|
rs1201973585 CA398099421 |
623 | F>L | No |
ClinGen gnomAD |
|
rs756851282 CA8386270 |
624 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753483859 CA8386269 |
625 | N>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 625 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs183657375 CA8386268 |
626 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs183657375 CA8386267 |
626 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8386266 rs752994225 |
627 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8386265 rs767976456 |
628 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1567667613 CA398099347 |
628 | G>S | No |
ClinGen Ensembl |
|
CA398099328 rs1388879579 |
629 | A>V | No |
ClinGen gnomAD |
|
rs759933771 CA8386264 |
631 | T>I | No |
ClinGen ExAC |
|
CA398099300 rs1448734506 |
631 | T>S | No |
ClinGen gnomAD |
|
CA8386245 rs552715118 |
632 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1334484671 CA398099292 |
632 | G>S | No |
ClinGen gnomAD |
|
rs750478146 CA8386243 |
633 | D>G | No |
ClinGen ExAC gnomAD |
|
CA287726128 rs998777982 |
633 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 634 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386242 rs535572565 COSM3937233 |
635 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs761982304 CA8386241 |
640 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386239 rs368993670 |
641 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
CA8386238 rs759381130 |
641 | G>V | No |
ClinGen ExAC |
|
rs368993670 CA398097970 |
641 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
rs1212396138 CA398097904 |
644 | K>T | No |
ClinGen gnomAD |
|
CA8386236 rs770980580 |
645 | G>S | No |
ClinGen ExAC gnomAD |
|
rs772820574 CA8386234 |
647 | S>F | No |
ClinGen ExAC gnomAD |
|
rs377381885 CA398097789 |
651 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs377381885 COSM1216157 CA8386232 |
651 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8386230 rs780897551 |
652 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1567666681 CA398097758 |
653 | A>P | No |
ClinGen Ensembl |
|
rs758871108 CA8386224 |
654 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201179810 CA8386227 |
654 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201179810 CA8386225 |
654 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs750959782 CA8386223 |
656 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 659 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1202597060 CA398097504 |
660 | N>I | No |
ClinGen gnomAD |
|
rs1228479657 CA398097414 CA398097409 |
663 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs1269420865 CA398097434 |
663 | M>V | No |
ClinGen gnomAD |
|
rs529960171 CA8386206 |
666 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386205 rs188020778 |
667 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs780354461 CA287725933 |
669 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386204 rs780354461 |
669 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758783505 CA398097286 |
670 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758783505 CA8386203 |
670 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376853607 CA287725930 |
670 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
rs1452127277 CA398097239 |
672 | H>L | No |
ClinGen gnomAD |
|
rs1404198290 CA398097211 |
673 | F>L | No |
ClinGen gnomAD |
|
rs752805492 CA398097181 |
675 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA8386202 rs267604694 |
675 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779397376 CA8386201 |
676 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1156801328 CA398097131 |
678 | I>T | No |
ClinGen gnomAD |
|
rs546689863 CA8386200 |
679 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM3402573 rs753941743 CA8386199 |
680 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA398096989 rs1470418395 |
684 | T>I | No |
ClinGen TOPMed |
|
CA398097003 rs1239762941 |
684 | T>P | No |
ClinGen TOPMed |
|
rs1249504311 CA398096927 |
686 | G>C | No |
ClinGen gnomAD |
|
CA398096116 rs1293444889 |
686 | G>D | No |
ClinGen gnomAD |
|
rs376737269 CA8386182 |
687 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398096089 rs1302443859 |
688 | M>R | No |
ClinGen gnomAD |
|
rs1302443859 CA398096093 |
688 | M>T | No |
ClinGen gnomAD |
|
rs1372129215 CA398096067 |
690 | H>Y | No |
ClinGen gnomAD |
|
rs1168300761 CA398096025 |
693 | V>I | No |
ClinGen gnomAD |
|
rs950408208 CA287718177 |
694 | M>I | No |
ClinGen gnomAD |
|
CA398096007 rs1422509351 |
694 | M>T | No |
ClinGen gnomAD |
|
CA287718164 rs756173745 |
695 | H>Q | No |
ClinGen ExAC |
|
CA398096002 rs1200634983 |
695 | H>Y | No |
ClinGen gnomAD |
|
rs752914001 CA8386179 |
696 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752914001 CA398095989 |
696 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386178 rs781556558 COSM435973 |
698 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs755306372 CA8386177 |
698 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA398095959 rs755306372 |
698 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1196754163 CA398095946 |
699 | C>F | No |
ClinGen gnomAD |
|
rs1254350778 CA398095954 |
699 | C>R | No |
ClinGen gnomAD |
|
rs2240579 CA398095926 |
700 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1235765572 CA398095916 |
701 | G>E | No |
ClinGen gnomAD |
|
rs2190729 CA8386175 VAR_030231 |
701 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398095897 rs1282758913 |
702 | V>A | No |
ClinGen gnomAD |
|
rs761768181 CA8386174 |
703 | L>P | No |
ClinGen ExAC |
|
COSM3937231 rs753739990 CA8386173 |
704 | E>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs753739990 CA287718106 |
704 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200422906 CA8386172 |
705 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
RCV001198662 rs1394139900 CA398095847 |
706 | I>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
CA398095841 rs1394139900 |
706 | I>S | No |
ClinGen gnomAD |
|
rs760470052 CA287718059 COSM1216141 |
707 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs572177108 CA8386171 |
707 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs931730352 CA287718053 |
709 | C>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 709 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1479706525 CA398095792 |
710 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA287718050 rs267604693 |
710 | R>K | No |
ClinGen Ensembl |
|
CA287718049 rs921637391 |
711 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA398095752 rs1414835819 |
712 | G>R | No |
ClinGen gnomAD |
|
CA287718048 rs975734965 |
712 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1437593783 CA398095717 |
714 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA398095691 rs1202350615 |
715 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA398095696 rs1239978002 |
715 | S>T | No |
ClinGen TOPMed |
|
rs554095099 CA8386169 |
716 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8386170 rs775048148 |
716 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1331393312 CA398095627 |
719 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA398095630 rs1221767620 |
719 | Y>H | No |
ClinGen gnomAD |
|
rs1020171421 CA287718008 |
720 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA287718015 rs966374872 |
720 | A>T | No |
ClinGen TOPMed |
|
rs1020171421 CA398095617 |
720 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA398095607 rs1318133056 |
721 | D>A | No |
ClinGen TOPMed |
|
rs1000941412 CA287718004 |
723 | K>R | No |
ClinGen Ensembl |
|
rs1333726515 CA398095572 |
724 | Q>* | No |
ClinGen gnomAD |
|
CA398095568 rs1333726515 |
724 | Q>K | No |
ClinGen gnomAD |
|
CA8386168 rs562834527 |
725 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs902590181 CA287717996 |
725 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1185269713 CA398094631 |
726 | Y>* | No |
ClinGen TOPMed |
|
rs759137231 CA8386150 |
727 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386151 rs767061168 |
727 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398094560 rs1169180665 |
730 | N>D | No |
ClinGen TOPMed |
|
CA287717371 rs370552608 |
730 | N>S | No |
ClinGen gnomAD |
|
rs773903496 CA8386148 |
732 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1181944671 CA398094490 |
733 | A>T | No |
ClinGen gnomAD |
|
CA8386146 rs763236327 |
735 | P>A | No |
ClinGen ExAC gnomAD |
|
rs763236327 CA398094469 |
735 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 737 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs948643858 CA287717339 |
737 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1293843823 CA398094386 |
740 | I>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 743 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287717314 rs867554605 |
744 | N>T | No |
ClinGen Ensembl |
|
rs1356440869 CA398094294 |
748 | K>N | No |
ClinGen TOPMed |
|
TCGA novel | 750 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748717248 CA8386142 CA8386143 |
751 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398094251 rs1269009319 |
752 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8386141 rs776806739 |
753 | I>S | No |
ClinGen ExAC gnomAD |
|
rs369919760 CA8386139 |
754 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs749031621 CA8386136 |
756 | D>N | No |
ClinGen ExAC gnomAD |
|
CA287717291 rs777663218 |
757 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386134 rs756022773 |
757 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386135 rs777663218 |
757 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398094203 rs1227541362 |
758 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8386133 rs752651852 |
759 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754486353 CA8386129 |
760 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766971329 CA8386132 |
760 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766971329 CA8386131 |
760 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751161545 CA8386128 |
761 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 761 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751161545 CA287717250 |
761 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765721497 CA8386125 |
763 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386124 rs765721497 COSM472254 |
763 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1019221506 CA398094124 |
764 | N>D | No |
ClinGen gnomAD |
|
CA287717206 rs1019221506 |
764 | N>Y | No |
ClinGen gnomAD |
|
rs868549264 CA287717202 |
765 | T>I | No |
ClinGen Ensembl |
|
CA287717197 rs1008711458 |
766 | K>R | No |
ClinGen Ensembl |
|
rs1408574950 CA398093985 |
769 | F>L | No |
ClinGen gnomAD |
|
rs765633329 CA8386107 |
771 | A>V | No |
ClinGen ExAC gnomAD |
|
rs201786434 CA8386106 |
773 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754314075 CA8386105 |
773 | L>H | No |
ClinGen ExAC gnomAD |
|
CA398093929 rs1419631693 |
774 | L>V | No |
ClinGen gnomAD |
|
rs371320221 CA287715886 |
775 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs368439343 CA8386104 |
776 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1243363308 CA398093908 |
776 | L>P | No |
ClinGen gnomAD |
|
CA398093895 rs1202695218 |
778 | E>K | No |
ClinGen gnomAD |
|
rs1015610608 CA287715871 |
779 | E>Q | No |
ClinGen Ensembl |
|
rs761283999 CA8386103 |
780 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775409429 CA8386102 |
781 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 783 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 786 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772214620 CA8386101 |
786 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8386100 rs759635353 |
787 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA287715857 rs866138852 |
788 | L>P | No |
ClinGen Ensembl |
|
CA398093507 rs1265102492 |
791 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1265102492 CA398093505 |
791 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA398093496 rs774557713 |
792 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386099 rs774557713 |
792 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 793 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200751006 CA8386097 |
793 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398093466 rs781028573 |
794 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 794 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386096 rs781028573 |
794 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1210859642 CA398093454 |
795 | V>L | No |
ClinGen TOPMed |
|
rs1290733404 CA398093445 |
796 | C>G | No |
ClinGen gnomAD |
|
CA8386093 rs779393836 |
797 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1464509575 CA398093422 |
798 | G>R | No |
ClinGen TOPMed |
|
CA8386091 rs548253207 |
799 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8386090 rs778697002 |
800 | L>M | No |
ClinGen ExAC gnomAD |
|
rs1246683080 CA398093386 |
800 | L>R | No |
ClinGen gnomAD |
|
rs868009721 CA287715796 |
801 | M>R | No |
ClinGen Ensembl |
|
rs754224134 CA8386088 |
802 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765434705 CA8386089 |
802 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1597380750 CA398093344 |
803 | V>G | No |
ClinGen Ensembl |
|
CA398093348 rs1186591671 |
803 | V>L | No |
ClinGen gnomAD |
|
rs764601650 CA398093334 |
804 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386087 rs764601650 |
804 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386085 rs753276812 |
805 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373389464 CA8386084 COSM3818777 |
805 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA398093320 rs1567663750 |
805 | F>V | No |
ClinGen Ensembl |
|
CA287715778 rs939561855 |
806 | K>R | No |
ClinGen TOPMed |
|
CA398093224 rs1338939800 |
809 | M>I | No |
ClinGen gnomAD |
|
rs1245458448 CA398093239 |
809 | M>K | No |
ClinGen TOPMed gnomAD |
|
rs1245458448 CA398093236 |
809 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA398092539 rs1276413300 |
813 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA398092535 rs1276413300 |
813 | D>Y | No |
ClinGen TOPMed gnomAD |
|
CA8386069 rs777959486 |
814 | S>C | No |
ClinGen ExAC gnomAD |
|
rs2277644 CA398092438 CA398092443 |
819 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398092452 rs1346079549 |
819 | Q>K | No |
ClinGen gnomAD |
|
rs753086074 CA8386067 |
820 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753086074 CA398092436 |
820 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386066 rs768052059 |
821 | N>S | No |
ClinGen ExAC gnomAD |
|
rs751603093 CA8386064 |
823 | R>C | No |
ClinGen ExAC gnomAD |
|
rs369187929 CA8386063 |
823 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763125452 CA8386062 |
824 | S>C | No |
ClinGen ExAC |
|
CA287714148 rs770293589 |
825 | F>L | No |
ClinGen Ensembl |
|
CA8386060 rs763741248 |
827 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386057 rs772014501 |
828 | V>A | No |
ClinGen ExAC gnomAD |
|
rs775216814 CA8386058 |
828 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386055 rs377122639 |
829 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1236076329 CA398092243 |
831 | W>* | No |
ClinGen TOPMed |
|
CA398092173 rs1187302311 |
835 | N>K | No |
ClinGen TOPMed |
|
CA287714065 rs1006719815 |
836 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs748882559 CA8386053 |
838 | F>L | No |
ClinGen ExAC gnomAD |
|
rs370062517 CA8386051 |
839 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
rs748537792 CA398092086 |
842 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386050 rs748537792 |
842 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398092068 rs1189731591 |
844 | L>P | No |
ClinGen gnomAD |
|
CA8386046 rs201644802 |
845 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199519118 CA8386045 |
846 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs958930265 CA287713960 CA287713961 |
846 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA8386043 rs373275879 |
847 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
rs186137259 CA8386044 |
847 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398091994 rs1418924623 |
850 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs201985682 CA287713937 |
852 | E>D | No |
ClinGen 1000Genomes |
|
rs1236571630 CA398091938 |
853 | M>T | No |
ClinGen gnomAD |
|
rs371008542 CA8386039 |
854 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371008542 CA8386040 |
854 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8386041 rs775335012 |
854 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 854 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386038 rs371008542 |
854 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1262627806 CA398091885 |
856 | M>T | No |
ClinGen gnomAD |
|
CA398091851 rs1597379775 |
858 | E>A | No |
ClinGen Ensembl |
|
TCGA novel | 859 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8386036 rs748790850 |
861 | E>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 862 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772662573 CA8386035 |
863 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1374446622 CA398091774 |
864 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA8386034 rs532067093 |
864 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398091748 rs1597379766 |
866 | E>K | No |
ClinGen Ensembl |
|
COSM1630038 rs199540562 CA8386033 |
869 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA8386032 rs147387198 COSM262207 |
869 | R>Q | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA398091676 rs1331637610 |
873 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs201756932 CA8386030 |
874 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386028 rs1555550189 |
876 | E>V | No |
ClinGen Ensembl |
|
CA8386027 rs780528208 |
877 | L>V | No |
ClinGen ExAC gnomAD |
|
CA8386026 rs576189704 |
878 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398091602 rs1185615911 |
879 | E>K | No |
ClinGen gnomAD |
|
CA8386023 rs757452375 |
882 | V>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 884 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754037722 CA8386022 |
887 | E>K | No |
ClinGen ExAC gnomAD |
|
rs200221550 CA8386018 |
890 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8386017 rs369600430 |
891 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8386016 rs766411881 |
893 | L>F | No |
ClinGen ExAC gnomAD |
|
CA398091346 rs1369227582 |
895 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA287713676 rs1053679053 |
895 | V>I | No |
ClinGen gnomAD |
|
rs762833839 CA8386015 |
896 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA287713651 rs936506701 |
896 | Q>R | No |
ClinGen gnomAD |
|
CA398090472 rs1168036095 |
898 | E>A | No |
ClinGen TOPMed |
|
rs1031387627 CA287710820 |
899 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1031387627 CA287710821 |
899 | T>K | No |
ClinGen TOPMed gnomAD |
|
CA398090452 rs1199806212 |
900 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA398090456 rs1430251801 |
900 | E>K | No |
ClinGen gnomAD |
|
CA8386002 rs754032955 |
903 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362183349 CA398090379 |
905 | A>D | No |
ClinGen TOPMed |
|
rs999798065 CA398090381 |
905 | A>P | No |
ClinGen TOPMed |
|
CA287710813 rs999798065 |
905 | A>T | No |
ClinGen TOPMed |
|
CA398090372 rs1200117101 |
906 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 908 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385998 rs572952027 |
908 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs751366719 CA8385999 |
908 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1438063017 CA398090324 |
909 | C>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1438063017 CA398090327 |
909 | C>R | No |
ClinGen gnomAD |
|
CA398090284 rs1349339103 |
911 | G>A | No |
ClinGen TOPMed |
|
CA398090286 rs1349339103 |
911 | G>E | No |
ClinGen TOPMed |
|
rs762896337 CA8385997 |
912 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398090261 rs1196205099 |
913 | I>T | No |
ClinGen gnomAD |
|
CA8385995 rs371057299 |
914 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs1325140547 CA398090248 |
914 | K>R | No |
ClinGen gnomAD |
|
CA398090189 rs1254861122 |
917 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA398090164 rs1367282442 |
919 | L>P | No |
ClinGen gnomAD |
|
rs761218756 CA8385992 |
925 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385991 rs768267700 |
927 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385990 rs768267700 |
927 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8385988 rs775784242 |
928 | E>D | No |
ClinGen ExAC gnomAD |
|
CA287710714 rs1011495918 |
931 | E>Q | No |
ClinGen Ensembl |
|
TCGA novel CA398089957 rs1228165420 |
932 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
rs746318337 CA8385986 |
934 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385987 rs373617551 |
934 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1412726968 CA398089911 |
935 | E>D | No |
ClinGen TOPMed |
|
rs771525567 CA8385984 |
936 | M>I | No |
ClinGen ExAC gnomAD |
|
rs539224323 CA8385985 |
936 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1392431531 CA398089820 |
943 | K>N | No |
ClinGen gnomAD |
|
CA287710698 rs906880468 |
943 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1176447655 CA398089817 |
944 | K>E | No |
ClinGen gnomAD |
|
CA8385982 rs778036904 |
945 | R>K | No |
ClinGen ExAC gnomAD |
|
rs377056238 CA8385979 |
946 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385980 rs748400364 |
946 | N>S | No |
ClinGen ExAC gnomAD |
|
CA8385978 rs201762118 |
949 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs868075343 CA287710671 |
950 | K>T | No |
ClinGen Ensembl |
|
rs1378173426 CA398089770 |
951 | C>R | No |
ClinGen TOPMed gnomAD |
|
rs750293503 CA398089759 |
952 | S>F | No |
ClinGen ExAC gnomAD |
|
CA8385977 rs750293503 |
952 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1344921980 CA398089758 |
953 | S>P | No |
ClinGen TOPMed |
|
CA398089750 rs1597378396 |
954 | L>F | No |
ClinGen Ensembl |
|
CA398089747 rs1597378392 |
954 | L>R | No |
ClinGen Ensembl |
|
rs1597378387 CA398089745 |
955 | K>E | No |
ClinGen Ensembl |
|
rs372844195 CA8385976 |
957 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
CA8385974 rs753325183 |
958 | I>N | No |
ClinGen ExAC gnomAD |
|
rs1401053361 CA398089713 |
959 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA287710656 rs376701281 |
959 | D>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 959 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763617348 CA8385973 |
960 | D>H | No |
ClinGen ExAC gnomAD |
|
rs201602800 CA287710647 |
961 | L>P | No |
ClinGen 1000Genomes |
|
CA398089701 rs201602800 |
961 | L>Q | No |
ClinGen 1000Genomes |
|
rs1156404487 CA398089700 |
962 | E>K | No |
ClinGen gnomAD |
|
CA287710639 rs199579128 |
963 | L>P | No |
ClinGen 1000Genomes |
|
rs973999597 CA287710637 |
964 | T>N | No |
ClinGen TOPMed gnomAD |
|
CA8385971 rs775127686 |
966 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775127686 CA287710618 |
966 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287710595 rs200888879 |
969 | E>K | No |
ClinGen 1000Genomes |
|
TCGA novel | 971 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1476991592 CA398089634 |
972 | K>E | No |
ClinGen TOPMed |
|
rs1476991592 CA398089635 |
972 | K>Q | No |
ClinGen TOPMed |
|
rs762047681 CA287707405 |
979 | V>I | No |
ClinGen gnomAD |
|
CA398089176 rs1170543943 |
980 | K>R | No |
ClinGen gnomAD |
|
CA398089165 rs1477249507 |
981 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA398089157 rs1446951213 |
983 | S>T | No |
ClinGen TOPMed |
|
CA8385934 rs777672525 |
984 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 985 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398089118 rs1268534440 |
988 | A>E | No |
ClinGen gnomAD |
|
rs1209416219 CA398089113 COSM3356884 |
989 | L>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA398089109 rs1359008317 |
990 | E>Q | No |
ClinGen Ensembl |
|
CA8385931 rs780799496 |
995 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1262826171 CA398089072 |
995 | K>Q | No |
ClinGen gnomAD |
|
rs369473556 CA8385932 |
995 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751253408 CA8385929 |
998 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398089046 rs1331418426 |
999 | E>K | No |
ClinGen gnomAD |
|
CA8385928 COSM1216143 rs200606595 |
1000 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs765811468 CA8385925 |
1004 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1597377049 CA398089004 |
1005 | E>Q | No |
ClinGen Ensembl |
|
rs1237477439 CA398088979 |
1008 | Q>R | No |
ClinGen TOPMed |
|
CA287707337 rs368557738 |
1012 | D>H | No |
ClinGen ESP |
|
rs962053651 CA287707328 |
1013 | D>E | No |
ClinGen Ensembl |
|
rs776524560 CA8385922 |
1015 | Q>R | No |
ClinGen ExAC |
|
CA287707322 rs371261346 |
1016 | V>L | No |
ClinGen ESP |
|
rs964726212 CA287707313 |
1018 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs775795346 CA8385919 |
1019 | D>G | No |
ClinGen ExAC gnomAD |
|
rs760744083 CA8385920 |
1019 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385918 rs772336384 |
1021 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8385916 rs777584614 |
1022 | N>S | No |
ClinGen ExAC gnomAD |
|
rs749076104 CA8385917 |
1022 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA8385915 rs769695969 |
1023 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1255411655 CA398088871 |
1025 | I>N | No |
ClinGen gnomAD |
|
rs1230781939 CA398088849 |
1028 | N>S | No |
ClinGen gnomAD |
|
CA8385913 rs780525125 |
1030 | K>R | No |
ClinGen ExAC gnomAD |
|
rs199838645 CA8385912 |
1031 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398088830 rs199838645 |
1031 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs779755705 CA8385910 |
1032 | E>A | No |
ClinGen ExAC gnomAD |
|
CA8385911 rs751092152 |
1032 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287707269 rs955620752 |
1034 | Q>R | No |
ClinGen Ensembl |
|
rs1383683190 CA398088804 |
1035 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA8385909 rs758169145 |
1036 | D>N | No |
ClinGen ExAC gnomAD |
|
rs758079241 CA8385890 |
1038 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385889 rs745548039 |
1039 | E>* | No |
ClinGen ExAC gnomAD |
|
CA8385888 rs373076445 |
1040 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385887 rs373076445 |
1040 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1354974119 CA398088758 |
1040 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA398088752 rs1356172170 |
1041 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398088748 rs1281934443 |
1042 | L>S | No |
ClinGen TOPMed gnomAD |
|
CA8385885 rs551341526 |
1043 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398088735 rs1248744232 |
1044 | Q>* | No |
ClinGen gnomAD |
|
rs1359077021 CA398088718 |
1046 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs200874893 CA8385880 |
1048 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385881 rs200874893 |
1048 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385882 rs752800396 |
1048 | L>V | No |
ClinGen ExAC gnomAD |
|
CA8385879 rs545467762 |
1049 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1018514457 CA287706593 |
1049 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1478875991 CA398088697 |
1050 | A>E | No |
ClinGen TOPMed gnomAD |
|
CA398088695 rs1478875991 |
1050 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs531627533 CA8385877 |
1052 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398088677 rs1205108475 |
1053 | E>G | No |
ClinGen TOPMed |
|
CA8385876 rs776333588 |
1054 | R>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1054 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs376532213 CA8385875 |
1054 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385874 rs371880753 |
1055 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371880753 CA398088664 |
1055 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385873 COSM1609809 rs371880753 |
1055 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA287706569 rs1030154655 |
1056 | K>* | No |
ClinGen Ensembl |
|
CA8385871 rs201618576 |
1056 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385870 rs778696958 |
1057 | R>M | No |
ClinGen ExAC gnomAD |
|
rs1218601507 CA398088618 |
1062 | D>E | No |
ClinGen gnomAD |
|
CA287706547 rs900270269 |
1062 | D>H | No |
ClinGen Ensembl |
|
CA8385869 rs756925461 |
1065 | M>T | No |
ClinGen ExAC gnomAD |
|
CA398088591 rs1426432766 |
1066 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA8385868 rs749631461 |
1066 | S>P | No |
ClinGen ExAC gnomAD |
|
rs778048083 CA8385867 |
1067 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1467219569 CA398088581 |
1068 | E>A | No |
ClinGen TOPMed gnomAD |
|
rs756594347 CA8385866 |
1068 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385864 rs767514797 |
1070 | I>M | No |
ClinGen ExAC gnomAD |
|
CA398088566 rs1169810767 |
1070 | I>T | No |
ClinGen gnomAD |
|
CA8385863 rs2074877 VAR_024543 |
1071 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 1072 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398088550 rs1356534873 |
1072 | D>V | No |
ClinGen TOPMed |
|
rs1191550097 CA398088547 |
1073 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398088541 rs1474174651 |
1074 | E>Q | No |
ClinGen gnomAD |
|
rs2074876 CA8385861 VAR_030232 |
1076 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398088491 rs1291713506 |
1080 | I>T | No |
ClinGen TOPMed |
|
rs1457792107 CA398088480 |
1082 | E>K | No |
ClinGen gnomAD |
|
rs1306274900 CA398088463 |
1084 | L>* | No |
ClinGen gnomAD |
|
rs928190926 CA287706466 |
1084 | L>M | No |
ClinGen gnomAD |
|
TCGA novel | 1088 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385839 rs758610820 |
1088 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1379292389 CA398088414 |
1089 | F>L | No |
ClinGen gnomAD |
|
rs202075781 CA8385838 |
1090 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs763892093 CA8385837 |
1091 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8385836 rs760534346 |
1093 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1447163739 CA398088382 |
1093 | Q>H | No |
ClinGen TOPMed |
|
rs1256100483 CA398129794 |
1097 | K>R | No |
ClinGen gnomAD |
|
rs767529583 CA8385834 |
1098 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385833 rs764309768 |
1099 | D>I | No |
ClinGen ExAC |
|
CA8385830 rs773949729 |
1101 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs770378642 CA8385829 |
1104 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA8385826 rs769541871 |
1107 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8385827 rs764365343 |
1107 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1107 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748505561 CA8385825 |
1108 | F>L | No |
ClinGen ExAC gnomAD |
|
CA398129456 rs1359697250 |
1109 | Q>K | No |
ClinGen gnomAD |
|
rs781588323 CA8385824 |
1109 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1459133238 CA398129408 |
1110 | K>N | No |
ClinGen gnomAD |
|
CA398129388 rs1477452228 |
1111 | K>M | No |
ClinGen gnomAD |
|
CA398129383 rs1349886110 |
1111 | K>N | No |
ClinGen gnomAD |
|
CA398129344 rs1426784191 |
1113 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA8385821 rs747549130 |
1114 | E>D | No |
ClinGen ExAC gnomAD |
|
rs769105997 CA398129321 |
1114 | E>K | No |
ClinGen ExAC gnomAD |
|
rs769105997 CA8385822 |
1114 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs368451020 CA8385820 |
1115 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287742264 rs368451020 |
1115 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385801 rs566940799 |
1117 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8385800 rs745906763 |
1117 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1235110056 CA398129067 |
1118 | R>C | No |
ClinGen TOPMed gnomAD |
|
COSM1380712 CA8385799 rs192852006 |
1118 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs533539367 CA8385798 |
1119 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533539367 CA398129041 |
1119 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1300113972 CA398129047 |
1119 | I>V | No |
ClinGen gnomAD |
|
rs1431649173 CA398129003 |
1121 | E>Q | No |
ClinGen TOPMed |
|
rs199589434 CA8385797 |
1123 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398128929 rs1288213946 |
1124 | E>K | No |
ClinGen TOPMed |
|
rs781066339 CA8385796 |
1126 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1445485833 CA398128805 |
1127 | E>G | No |
ClinGen gnomAD |
|
rs61745304 CA8385795 |
1128 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385793 rs766219060 |
1129 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749855584 CA8385791 |
1131 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8385792 rs749855584 |
1131 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761391784 CA8385789 |
1132 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398128658 rs1382465875 |
1133 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1179321893 CA398128613 |
1136 | I>T | No |
ClinGen gnomAD |
|
CA398128604 rs1411632518 |
1137 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs370613146 CA8385788 |
1140 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398128548 rs1471406082 |
1140 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1248286957 CA398128530 |
1142 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA287741826 rs971131554 |
1145 | R>K | No |
ClinGen Ensembl |
|
rs1202137220 CA398128450 |
1147 | L>M | No |
ClinGen gnomAD |
|
rs1202137220 CA398128447 |
1147 | L>V | No |
ClinGen gnomAD |
|
CA8385787 rs763795168 |
1148 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775964864 CA8385785 |
1149 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1233984585 CA398128415 |
1149 | E>K | No |
ClinGen gnomAD |
|
CA398128371 rs1238768353 |
1151 | S>C | No |
ClinGen gnomAD |
|
rs772438370 CA8385783 |
1151 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774254848 CA8385781 |
1152 | E>K | No |
ClinGen ExAC gnomAD |
|
CA398128355 rs774254848 |
1152 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA8385780 rs373375015 |
1154 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs778124612 CA8385778 |
1155 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778124612 CA8385779 |
1155 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385777 rs756467327 |
1157 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8385776 rs376155718 |
1158 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376155718 CA8385775 |
1158 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781663301 CA8385774 |
1158 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750381750 CA8385773 |
1159 | G>A | No |
ClinGen ExAC gnomAD |
|
rs201696029 CA8385771 |
1160 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385770 rs753413014 |
1161 | T>A | No |
ClinGen ExAC gnomAD |
|
CA287741781 rs866984640 |
1164 | Q>* | No |
ClinGen Ensembl |
|
rs760427145 CA8385768 |
1164 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs752953353 CA8385767 |
1165 | I>N | No |
ClinGen ExAC gnomAD |
|
CA8385766 rs767954040 |
1166 | E>K | No |
ClinGen ExAC gnomAD |
|
rs759892824 COSM705214 CA8385765 |
1168 | N>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA398128102 rs1244963292 |
1168 | N>I | No |
ClinGen gnomAD |
|
CA8385764 rs775010991 |
1169 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel CA398128089 rs1597888987 |
1169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
rs1413288530 CA398128002 |
1175 | F>I | No |
ClinGen gnomAD |
|
CA398127968 rs1298975084 |
1176 | Q>H | No |
ClinGen gnomAD |
|
rs1016961248 CA287741760 |
1177 | K>E | No |
ClinGen Ensembl |
|
rs763117570 CA8385762 |
1178 | M>L | No |
ClinGen ExAC gnomAD |
|
CA8385761 rs377480217 |
1178 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385760 rs200861648 |
1179 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385759 rs369467746 |
1179 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA398127886 rs1417054667 |
1181 | D>G | No |
ClinGen gnomAD |
|
rs201388234 CA8385758 |
1183 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385756 rs745708457 |
1186 | T>N | No |
ClinGen ExAC gnomAD |
|
CA398127782 rs1181765369 |
1188 | Q>R | No |
ClinGen TOPMed |
|
rs370432284 CA8385752 |
1190 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385753 rs370432284 |
1190 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1291647653 CA398127682 |
1194 | A>V | No |
ClinGen gnomAD |
|
rs201278580 CA287741741 |
1197 | R>W | No |
ClinGen 1000Genomes |
|
CA8385751 rs777289023 |
1198 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1165541592 CA398127608 |
1200 | Q>E | No |
ClinGen TOPMed |
|
rs755680069 CA8385750 |
1201 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs528087450 CA8385749 |
1201 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1232023424 CA398127537 |
1204 | V>A | No |
ClinGen gnomAD |
|
CA398127546 rs1379998480 |
1204 | V>M | No |
ClinGen gnomAD |
|
CA8385747 rs199750347 |
1206 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8385746 rs752037123 |
1207 | L>P | No |
ClinGen ExAC gnomAD |
|
rs371686538 CA287741714 |
1208 | G>R | No |
ClinGen ESP |
|
rs773375344 CA8385744 |
1209 | E>K | No |
ClinGen ExAC gnomAD |
|
rs773375344 CA8385743 |
1209 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA398127464 rs1162644632 |
1210 | Q>E | No |
ClinGen gnomAD |
|
CA8385742 rs202062172 |
1210 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143068181 CA8385741 |
1211 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385740 rs776899803 |
1215 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs563131895 CA8385738 |
1216 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs563131895 CA8385737 |
1216 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385736 rs563131895 |
1216 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385739 COSM124594 rs768831406 |
1216 | R>W | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1597888863 CA398127279 |
1221 | L>M | No |
ClinGen Ensembl |
|
rs747666091 CA8385731 |
1224 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287741678 rs934580244 |
1225 | K>E | No |
ClinGen gnomAD |
|
rs371722783 CA8385727 |
1225 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385728 rs754626370 |
1225 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1486690591 CA398127180 |
1226 | S>I | No |
ClinGen TOPMed |
|
rs1486690591 CA398127185 |
1226 | S>N | No |
ClinGen TOPMed |
|
CA398127168 rs12103825 |
1226 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758911088 CA8385724 COSM1216161 |
1227 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs61745305 CA8385722 |
1232 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61745305 CA8385721 |
1232 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1328142213 CA398126997 |
1233 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs202142602 CA8385717 |
1234 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202142602 CA8385718 |
1234 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs981227554 CA287741660 |
1235 | M>T | No |
ClinGen TOPMed |
|
CA8385716 rs770715157 |
1236 | A>S | No |
ClinGen ExAC gnomAD |
|
rs373664915 CA8385715 |
1237 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
rs138500879 CA398126822 |
1238 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1284837273 CA398126807 |
1239 | I>N | No |
ClinGen gnomAD |
|
rs1243212451 CA398126760 |
1240 | E>D | No |
ClinGen TOPMed |
|
COSM276202 rs376739694 CA8385712 |
1240 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA398126744 rs1597888788 |
1241 | A>D | No |
ClinGen Ensembl |
|
CA287741654 rs780615018 |
1241 | A>S | No |
ClinGen ExAC gnomAD |
|
rs780615018 CA8385711 |
1241 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8385709 rs746689351 |
1242 | L>F | No |
ClinGen ExAC gnomAD |
|
rs867218948 CA287741649 |
1243 | S>F | No |
ClinGen Ensembl |
|
CA8385708 rs780510229 |
1246 | K>E | No |
ClinGen ExAC gnomAD |
|
CA398125323 rs1387646246 |
1247 | S>N | No |
ClinGen gnomAD |
|
CA8385693 rs567533398 |
1249 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746577108 CA398125200 |
1252 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746577108 CA8385692 |
1252 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779170976 CA8385688 |
1254 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8385690 rs549280731 |
1254 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM435967 CA8385686 rs754307803 |
1255 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM975116 rs373421683 CA8385684 |
1256 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1406648449 CA398125074 |
1257 | E>D | No |
ClinGen gnomAD |
|
rs868306070 CA287740608 |
1259 | Q>* | No |
ClinGen Ensembl |
|
rs767692504 CA8385682 |
1259 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8385683 rs752837863 |
1259 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385681 rs759803356 |
1261 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398124908 rs1359439398 |
1263 | I>M | No |
ClinGen TOPMed |
|
CA398124905 rs1567658311 |
1264 | K>Q | No |
ClinGen Ensembl |
|
rs750183311 CA8385680 |
1265 | A>V | No |
ClinGen ExAC gnomAD |
|
CA398124856 rs1486313438 |
1266 | K>Q | No |
ClinGen gnomAD |
|
CA8385678 rs375797285 |
1267 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1213706575 CA398124835 |
1267 | D>G | No |
ClinGen TOPMed gnomAD |
|
COSM333570 rs201895556 CA8385679 |
1267 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs866115089 CA287740584 |
1268 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8385675 rs760233403 |
1269 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1382640785 CA398124734 |
1270 | Q>R | No |
ClinGen gnomAD |
|
rs771804396 CA8385673 |
1271 | T>K | No |
ClinGen ExAC gnomAD |
|
rs745540840 CA8385672 |
1272 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385669 rs182508114 |
1274 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778244040 CA8385667 |
1274 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs756650312 CA8385666 |
1275 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs76205959 CA8385662 COSM1380702 |
1279 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA8385664 rs773824073 |
1279 | M>R | No |
ClinGen ExAC gnomAD |
|
rs773824073 CA8385663 |
1279 | M>T | No |
ClinGen ExAC gnomAD |
|
CA8385665 rs532469367 |
1279 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 1280 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1282 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766683819 CA8385661 |
1283 | R>T | No |
ClinGen ExAC gnomAD |
|
rs753708003 | 1288 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385643 rs758696446 |
1289 | G>E | No |
ClinGen ExAC gnomAD |
|
CA398124224 rs1332585363 |
1289 | G>R | No |
ClinGen gnomAD |
|
rs771528632 CA8385639 |
1293 | H>L | No |
ClinGen ExAC |
|
CA398124051 rs1490227000 |
1293 | H>R | No |
ClinGen TOPMed |
|
CA8385640 rs753639124 |
1293 | H>Y | No |
ClinGen ExAC |
|
rs17690195 CA8385637 |
1294 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385636 rs17690195 VAR_030233 |
1294 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398123980 rs1176367694 |
1298 | K>E | No |
ClinGen TOPMed |
|
CA398123976 rs1309729045 |
1298 | K>R | No |
ClinGen gnomAD |
|
CA8385634 rs72814731 |
1299 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA287740436 rs891764336 |
1299 | E>Q | No |
ClinGen TOPMed |
|
CA398123947 rs1296808013 |
1300 | S>F | No |
ClinGen gnomAD |
|
CA8385633 rs200968432 |
1301 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139070154 CA8385632 |
1305 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385630 rs762689271 |
1306 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398123883 rs762689271 |
1306 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773526179 CA8385629 |
1308 | S>I | No |
ClinGen ExAC gnomAD |
|
rs1429274668 CA398123830 |
1310 | Q>E | No |
ClinGen gnomAD |
|
TCGA novel | 1310 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385628 rs770146998 |
1311 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3361984 CA398123782 rs1375222358 |
1314 | Q>* | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
TCGA novel | 1316 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1317 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398123733 rs1359018527 CA398123735 |
1317 | E>D | No |
ClinGen TOPMed |
|
CA8385626 rs777120946 |
1318 | E>K | No |
ClinGen ExAC gnomAD |
|
CA398123697 rs747038495 |
1320 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385624 rs747038495 |
1320 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385623 COSM321854 rs376199191 |
1323 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1438288979 CA398123636 |
1324 | E>* | No |
ClinGen TOPMed |
|
CA398123624 rs1203789455 |
1325 | E>K | No |
ClinGen TOPMed |
|
CA398123591 rs1355155493 |
1327 | T>A | No |
ClinGen gnomAD |
|
rs1260810100 CA398123569 |
1328 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1329 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1293054234 CA398122750 |
1329 | A>T | No |
ClinGen gnomAD |
|
rs530640003 CA8385599 |
1332 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs187366324 CA8385598 |
1333 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398122689 rs201679022 |
1334 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
TCGA novel | 1334 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287739476 rs201679022 |
1334 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
CA398122681 rs1382911206 |
1335 | H>D | No |
ClinGen gnomAD |
|
rs754830808 CA398122669 |
1335 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779371167 CA8385595 |
1336 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385594 rs779371167 |
1336 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461899559 CA398122666 |
1336 | A>T | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1597885667 CA398122638 |
1338 | Q>R | No |
ClinGen Ensembl |
|
rs555474509 CA8385592 |
1339 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398122609 rs1373261172 |
1340 | S>P | No |
ClinGen gnomAD |
|
rs201735784 CA8385591 |
1341 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368423742 CA8385590 COSM1470912 |
1341 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8385589 rs754113209 |
1342 | H>D | No |
ClinGen ExAC gnomAD |
|
rs764526785 CA8385588 |
1342 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1031239878 CA287739425 |
1343 | D>E | No |
ClinGen TOPMed |
|
rs776054661 CA398122550 |
1343 | D>H | No |
ClinGen ExAC TOPMed |
|
rs776054661 CA8385586 |
1343 | D>N | No |
ClinGen ExAC TOPMed |
|
CA398122523 rs1273161090 |
1344 | C>R | No |
ClinGen gnomAD |
|
CA398122517 rs1199347971 |
1344 | C>Y | No |
ClinGen gnomAD |
|
CA287739413 rs201932409 |
1345 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385584 rs772775694 |
1345 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1345 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1473113435 CA398122478 |
1346 | L>M | No |
ClinGen TOPMed |
|
CA398122469 rs1392102024 |
1346 | L>P | No |
ClinGen TOPMed |
|
rs1392102024 CA398122468 |
1346 | L>R | No |
ClinGen TOPMed |
|
CA8385579 rs200236843 |
1348 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385580 rs200236843 |
1348 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1051299191 CA287739405 |
1348 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA398122383 rs1393616202 COSM3795255 |
1351 | Y>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs796336172 CA287739400 |
1351 | Y>C | No |
ClinGen gnomAD |
|
rs780782625 CA8385578 |
1352 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385576 rs746836223 |
1354 | E>K | No |
ClinGen ExAC gnomAD |
|
CA287739379 rs902751527 |
1357 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA398122235 rs902751527 |
1357 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA398122232 rs1457854479 |
1358 | K>E | No |
ClinGen gnomAD |
|
rs371382799 CA8385572 |
1360 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385571 rs371382799 |
1360 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1361 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1220031153 CA398122153 |
1361 | L>V | No |
ClinGen gnomAD |
|
CA8385570 rs199890413 |
1362 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4141968 rs753546519 CA8385569 |
1363 | R>K | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs763716572 CA8385568 |
1364 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1480451850 CA398122100 |
1364 | A>V | No |
ClinGen TOPMed |
|
rs1370387214 CA398122072 |
1366 | S>P | No |
ClinGen gnomAD |
|
rs946903100 CA398122030 |
1368 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs946903100 CA287739366 |
1368 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1355108219 CA398122018 |
1368 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1376861349 CA398121957 |
1371 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs760137733 CA8385564 |
1372 | V>I | No |
ClinGen ExAC gnomAD |
|
rs62060459 CA287739343 |
1373 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1433507557 CA398121939 |
1373 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 1374 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1375 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385562 rs766570174 |
1375 | W>S | No |
ClinGen ExAC gnomAD |
|
rs773470485 CA8385559 |
1377 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385555 COSM3736151 rs376810508 |
1380 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8385556 rs376810508 |
1380 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385553 rs754450155 |
1381 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs4791401 CA398121737 |
1382 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385551 rs748820887 |
1382 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8385549 rs755767957 |
1383 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398121719 rs1483583986 |
1383 | A>V | No |
ClinGen TOPMed |
|
rs1025550452 CA287739265 |
1384 | I>T | No |
ClinGen TOPMed |
|
rs374720516 CA8385548 |
1384 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
COSM3370598 rs755466170 CA8385544 |
1386 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs752124917 CA8385543 |
1386 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1158531402 CA398121606 |
1389 | E>D | No |
ClinGen gnomAD |
|
rs372740212 CA8385540 |
1389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765451029 CA8385539 |
1390 | L>P | No |
ClinGen ExAC gnomAD |
|
CA398121603 rs1471789421 |
1390 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 1391 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1391 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1485458248 CA398121571 |
1393 | A>T | No |
ClinGen gnomAD |
|
rs1177704379 CA398121564 |
1393 | A>V | No |
ClinGen TOPMed |
|
rs760402984 | 1396 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760402984 | 1397 | L>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385507 rs772708851 |
1398 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150690480 CA8385506 |
1398 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385505 rs747717096 |
1400 | R>K | No |
ClinGen ExAC gnomAD |
|
CA8385504 rs201095259 |
1400 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs997564905 CA287739012 |
1401 | L>I | No |
ClinGen Ensembl |
|
rs901821601 CA287739011 |
1404 | A>E | No |
ClinGen gnomAD |
|
rs373425936 CA8385503 COSM1479196 |
1408 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8385501 rs780314509 |
1409 | E>G | No |
ClinGen ExAC gnomAD |
|
rs367803525 COSM975110 CA8385500 |
1410 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757283120 CA398121137 |
1411 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779532801 CA8385498 |
1411 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757283120 CA8385497 |
1411 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA398121102 rs1369328582 |
1413 | S>Y | No |
ClinGen TOPMed |
|
CA398121094 rs1300252910 |
1414 | K>T | No |
ClinGen gnomAD |
|
CA398121046 rs751311864 |
1416 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM283016 CA8385493 rs751311864 |
1416 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1290440648 CA398121020 |
1417 | S>L | No |
ClinGen gnomAD |
|
CA398120878 rs1395786533 |
1423 | Q>* | No |
ClinGen gnomAD |
|
rs934463082 CA287738986 |
1426 | Q>* | No |
ClinGen Ensembl |
|
rs201851205 CA287738983 |
1429 | V>A | No |
ClinGen 1000Genomes |
|
rs201851205 CA398120706 |
1429 | V>G | No |
ClinGen 1000Genomes |
|
CA398120669 rs1192862595 |
1431 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1431 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398120671 rs1192862595 |
1431 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs374608340 CA8385488 |
1433 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385489 rs769835308 |
1433 | M>R | No |
ClinGen ExAC gnomAD |
|
CA8385485 rs200183030 |
1434 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs182969012 CA8385486 |
1434 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398120550 rs1555548797 |
1435 | D>Y | No |
ClinGen Ensembl |
|
CA287738973 rs1045888895 |
1437 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA287738972 rs1045888895 |
1437 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs141961168 CA8385484 |
1438 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs546103209 CA8385483 |
1438 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398120477 rs546103209 |
1438 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398120486 rs141961168 |
1438 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746313963 CA8385482 |
1439 | S>P | No |
ClinGen ExAC gnomAD |
|
rs1329823809 CA398120426 |
1440 | H>P | No |
ClinGen gnomAD |
|
rs1597885143 CA398120413 |
1441 | T>P | No |
ClinGen Ensembl |
|
CA8385480 rs541715049 |
1442 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs749320412 CA8385479 |
1443 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs777858413 CA8385478 |
1445 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385476 rs201251488 |
1446 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398120322 rs1264254187 |
1446 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA398120325 rs201251488 |
1446 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA287738962 rs909428858 |
1447 | D>A | No |
ClinGen gnomAD |
|
rs1365419486 CA398120267 |
1450 | Q>* | No |
ClinGen gnomAD |
|
rs1368070329 CA398120219 |
1452 | N>Y | No |
ClinGen TOPMed |
|
rs750271034 CA8385472 |
1454 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398120148 rs1189872936 |
1455 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1456 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385455 rs750136726 |
1456 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1296380297 CA398119997 |
1457 | L>F | No |
ClinGen gnomAD |
|
CA8385454 rs542012126 |
1458 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs757204394 CA8385453 |
1460 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA287738803 rs957983850 |
1461 | K>T | No |
ClinGen TOPMed |
|
rs753814640 CA8385452 |
1464 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA8385451 rs760233774 |
1465 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461732566 CA398119783 |
1465 | D>N | No |
ClinGen gnomAD |
|
rs767032047 CA8385448 |
1466 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3402569 rs775118096 CA8385449 |
1466 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1467 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1468 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1374200434 CA398119687 |
1470 | E>A | No |
ClinGen TOPMed |
|
CA8385447 rs759268800 |
1471 | L>M | No |
ClinGen ExAC gnomAD |
|
rs774509283 CA8385446 |
1474 | A>D | No |
ClinGen ExAC |
|
CA398118407 rs1033938431 |
1476 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA287738781 rs1033938431 |
1476 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs771295641 CA8385445 |
1477 | E>K | No |
ClinGen ExAC |
|
CA398118360 rs1597884834 |
1478 | S>C | No |
ClinGen Ensembl |
|
rs749707978 CA8385444 |
1479 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773702019 CA8385443 |
1480 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1482 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1452495963 CA398118306 |
1482 | S>R | No |
ClinGen gnomAD |
|
rs770323060 CA8385442 |
1484 | E>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1484 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398118264 rs1567656659 |
1485 | L>F | No |
ClinGen Ensembl |
|
CA8385441 rs748152739 |
1487 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1208497787 CA398118225 |
1487 | K>R | No |
ClinGen gnomAD |
|
rs781353020 CA8385440 |
1488 | M>V | No |
ClinGen ExAC gnomAD |
|
rs768720710 CA8385439 |
1489 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1305446034 CA398118138 |
1491 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8385437 rs780481771 |
1496 | V>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1498 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757114637 CA8385436 |
1499 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1233688735 CA398117956 |
1501 | T>I | No |
ClinGen TOPMed |
|
CA398117946 rs1014050339 |
1502 | L>M | No |
ClinGen TOPMed |
|
rs372298751 CA8385434 |
1502 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
CA8385435 rs372298751 |
1502 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
COSM3402567 CA287738736 rs752113103 |
1504 | R>* | Variant assessed as Somatic; 0.0001393 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA398117909 rs767062297 |
1504 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385431 rs767062297 |
1504 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385430 rs759048237 |
1505 | E>G | No |
ClinGen ExAC gnomAD |
|
CA398117903 rs1193785498 |
1505 | E>Q | No |
ClinGen gnomAD |
|
rs1197173164 CA398117871 |
1506 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA8385429 rs751195744 |
1506 | N>S | No |
ClinGen ExAC gnomAD |
|
rs752690078 CA8385414 |
1514 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs760905233 CA8385412 |
1515 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs376842597 CA8385410 |
1517 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762615342 CA8385409 |
1517 | T>N | No |
ClinGen ExAC gnomAD |
|
rs765638189 CA8385407 |
1518 | E>K | No |
ClinGen ExAC gnomAD |
|
rs762142769 CA8385406 |
1519 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs992745648 CA287738561 |
1520 | I>T | No |
ClinGen TOPMed |
|
CA8385405 rs777192178 |
1521 | A>E | No |
ClinGen ExAC gnomAD |
|
CA287738558 rs777192178 |
1521 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 1524 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs892264453 CA287738555 |
1527 | L>P | No |
ClinGen TOPMed |
|
CA8385404 rs559498588 |
1529 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs372267098 CA8385403 |
1530 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1341715259 CA398117084 |
1532 | K>E | No |
ClinGen gnomAD |
|
rs1420246472 CA398116957 |
1534 | K>M | No |
ClinGen gnomAD |
|
rs1408362307 CA398116899 |
1537 | V>M | No |
ClinGen TOPMed |
|
CA398116869 rs1597884520 |
1538 | E>K | No |
ClinGen Ensembl |
|
rs1399912327 CA398116676 |
1540 | E>G | No |
ClinGen TOPMed |
|
rs1182672588 CA398116632 |
1541 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 1544 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385400 rs746095996 |
1544 | L>R | No |
ClinGen ExAC gnomAD |
|
CA398116436 TCGA novel rs1597884503 |
1546 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
CA8385398 rs761657838 |
1547 | A>S | No |
ClinGen ExAC gnomAD |
|
CA8385397 rs761657838 |
1547 | A>T | No |
ClinGen ExAC gnomAD |
|
rs754918823 CA8385395 |
1548 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287738532 rs952445866 |
1548 | L>V | No |
ClinGen Ensembl |
|
rs1331025837 CA398116236 |
1552 | E>K | No |
ClinGen TOPMed |
|
CA8385376 rs746952415 |
1553 | G>V | No |
ClinGen ExAC gnomAD |
|
CA8385374 rs757900706 |
1554 | S>A | No |
ClinGen ExAC gnomAD |
|
rs1457763442 CA398115092 |
1554 | S>F | No |
ClinGen gnomAD |
|
TCGA novel | 1554 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1043449603 CA287738020 |
1555 | L>* | No |
ClinGen TOPMed |
|
CA398115001 rs1171008511 |
1557 | H>R | No |
ClinGen gnomAD |
|
CA287738011 rs866092202 COSM124592 |
1558 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs866893623 CA287738009 |
1559 | E>* | No |
ClinGen gnomAD |
|
TCGA novel | 1560 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs995880377 CA287738006 |
1561 | K>E | No |
ClinGen Ensembl |
|
TCGA novel | 1561 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468101612 CA398114831 |
1562 | I>N | No |
ClinGen Ensembl |
|
CA8385373 rs146716231 |
1564 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs146716231 CA8385372 |
1564 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA398114765 rs367901073 |
1564 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385371 rs367901073 |
1564 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs202237890 CA8385370 |
1565 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398114732 rs1567655975 |
1566 | Q>* | No |
ClinGen Ensembl |
|
rs764373842 CA8385369 |
1566 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs756634855 CA8385368 |
1568 | E>G | No |
ClinGen ExAC gnomAD |
|
CA398114689 rs1190386215 |
1568 | E>Q | No |
ClinGen gnomAD |
|
CA287737975 rs916490907 |
1569 | L>Q | No |
ClinGen TOPMed |
|
CA287737974 rs796349653 |
1572 | V>L | No |
ClinGen TOPMed |
|
rs753247215 CA8385367 |
1574 | S>F | No |
ClinGen ExAC gnomAD |
|
rs890967500 CA287737971 |
1575 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA398114408 rs1427470488 |
1578 | R>G | No |
ClinGen TOPMed |
|
CA398114374 rs1459086593 |
1578 | R>H | No |
ClinGen TOPMed |
|
CA8385366 rs768200909 |
1579 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398114298 rs1386523136 |
1580 | V>I | No |
ClinGen gnomAD |
|
rs1388062678 CA398114254 |
1581 | I>T | No |
ClinGen TOPMed |
|
rs1410651705 CA398114220 |
1582 | E>G | No |
ClinGen gnomAD |
|
rs759654579 CA8385365 |
1582 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA287737957 rs866053819 |
1583 | K>N | No |
ClinGen Ensembl |
|
TCGA novel | 1584 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1584 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398114050 rs774346836 |
1588 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385364 rs774346836 |
1588 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378082198 CA398113855 |
1592 | R>S | No |
ClinGen gnomAD |
|
CA398113840 rs1597883770 |
1593 | N>T | No |
ClinGen Ensembl |
|
CA8385362 rs199949513 |
1596 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385359 rs768453663 |
1596 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs199949513 CA8385361 |
1596 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1439676380 CA398113582 |
1598 | A>G | No |
ClinGen gnomAD |
|
CA398113510 rs1352091066 |
1599 | E>D | No |
ClinGen TOPMed |
|
rs532024762 CA8385358 |
1599 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA287737935 rs1049526003 |
1599 | E>Q | No |
ClinGen gnomAD |
|
CA8385356 rs374285361 |
1601 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385355 rs745333168 |
1602 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748902789 CA8385352 |
1604 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA398113242 rs1229439527 |
1605 | L>P | No |
ClinGen gnomAD |
|
TCGA novel | 1605 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287737903 rs932404460 |
1606 | D>V | No |
ClinGen Ensembl |
|
rs1597883718 COSM559554 CA398113070 |
1610 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA8385351 rs777536390 COSM1237861 |
1610 | R>H | ovary thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA287737894 rs563245515 |
1612 | R>Q | No |
ClinGen gnomAD |
|
CA398113027 rs1397816473 |
1612 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398112954 rs753157072 |
1613 | N>K | No |
ClinGen ExAC gnomAD |
|
rs924997487 CA287737888 |
1613 | N>Y | No |
ClinGen Ensembl |
|
CA8385348 rs35069886 |
1614 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385347 rs199946468 |
1615 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398112909 rs199946468 |
1615 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs983236846 CA287737879 |
1618 | L>R | No |
ClinGen TOPMed |
|
rs1328716878 CA398112740 |
1621 | K>N | No |
ClinGen Ensembl |
|
CA8385344 CA287737869 rs766374585 |
1622 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1411463328 CA398112730 |
1622 | M>T | No |
ClinGen TOPMed |
|
rs751619893 CA8385346 |
1622 | M>V | No |
ClinGen ExAC gnomAD |
|
rs763178092 CA8385343 |
1624 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs996136735 CA287737861 |
1625 | D>A | No |
ClinGen TOPMed gnomAD |
|
rs960291930 CA287737862 |
1625 | D>N | No |
ClinGen TOPMed |
|
CA8385341 rs765483543 |
1626 | L>V | No |
ClinGen ExAC gnomAD |
|
CA398112607 rs1410167130 |
1627 | N>T | No |
ClinGen TOPMed |
|
CA398112598 rs1209693480 |
1628 | E>K | No |
ClinGen gnomAD |
|
CA398112555 rs1328938070 |
1629 | M>I | No |
ClinGen gnomAD |
|
rs1247273471 CA398112519 |
1630 | E>D | No |
ClinGen gnomAD |
|
rs760439258 CA8385340 |
1630 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1035881618 CA287737856 |
1632 | Q>L | No |
ClinGen Ensembl |
|
rs775285422 CA8385339 |
1635 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378410067 CA398112407 |
1637 | N>T | No |
ClinGen gnomAD |
|
rs771955776 CA398112391 |
1638 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8385338 rs771955776 |
1638 | R>G | No |
ClinGen ExAC gnomAD |
|
CA398112389 rs1567655857 |
1638 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA287737831 rs770585495 |
1640 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA8385337 rs553870585 |
1640 | M>L | No |
ClinGen 1000Genomes ExAC |
|
CA398112362 rs1451371258 |
1640 | M>T | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1641 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456449161 CA398112281 |
1645 | K>R | No |
ClinGen gnomAD |
|
rs1386201619 CA398112269 |
1646 | H>Y | No |
ClinGen gnomAD |
|
CA8385336 rs773850780 |
1647 | L>P | No |
ClinGen ExAC gnomAD |
|
rs375642990 CA8385335 |
1648 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs201701352 COSM1216155 CA8385333 |
1648 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs201701352 CA8385334 |
1648 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385332 rs556320995 |
1649 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781716026 CA398112185 |
1650 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385330 rs781716026 |
1650 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398112174 rs1464680763 |
1651 | Q>R | No |
ClinGen gnomAD |
|
CA398112147 rs1266623949 |
1652 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs377429569 CA8385327 |
1653 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 1653 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385326 rs199716200 |
1654 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747474836 CA8385311 |
1656 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747474836 CA8385310 |
1656 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398112007 rs1212570961 |
1657 | S>Y | No |
ClinGen TOPMed |
|
rs758965976 CA8385309 |
1658 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs866735378 CA287737771 |
1658 | Q>H | No |
ClinGen gnomAD |
|
CA8385308 rs758965976 |
1658 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs745906441 CA8385307 |
1658 | Q>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1660 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398111952 rs1197798249 |
1662 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs903650408 CA287737763 |
1663 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1043846802 CA287737756 |
1664 | A>P | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1664 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1043846802 CA398111920 |
1664 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1204463026 CA398111896 |
1666 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs754043056 CA8385304 |
1667 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1219750358 CA398111881 |
1667 | S>T | No |
ClinGen gnomAD |
|
rs764363889 CA8385303 |
1668 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398111841 rs1597883485 |
1670 | D>A | No |
ClinGen Ensembl |
|
rs754693958 CA8385301 |
1671 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1176374196 CA398111820 |
1672 | K>Q | No |
ClinGen TOPMed |
|
CA8385298 rs762982342 |
1673 | E>A | No |
ClinGen ExAC gnomAD |
|
rs140856441 CA8385299 |
1673 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375501891 CA8385297 |
1674 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761469071 CA8385295 |
1676 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8385294 rs776419097 |
1676 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1181730146 CA398111747 |
1678 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA398111732 rs1360361915 |
1679 | E>A | No |
ClinGen TOPMed |
|
CA8385293 rs768403556 |
1680 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs747286137 CA8385292 COSM1216153 |
1680 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs747286137 CA398111715 |
1680 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs775952625 CA8385290 |
1681 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1441750504 CA398111709 |
1681 | R>K | No |
ClinGen gnomAD |
|
CA398111701 rs1597883442 |
1681 | R>S | No |
ClinGen Ensembl |
|
CA8385288 rs536216236 |
1683 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8385287 rs554828485 |
1687 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398111644 rs1221703851 |
1688 | E>K | No |
ClinGen gnomAD |
|
CA398111616 rs1284244783 |
1689 | L>V | No |
ClinGen gnomAD |
|
CA398111556 rs150933986 CA8385284 |
1692 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1465387451 CA398111549 |
1693 | K>* | No |
ClinGen TOPMed |
|
CA398111539 rs1567655654 |
1694 | V>M | No |
ClinGen Ensembl |
|
CA398111459 rs1389854487 |
1697 | E>Q | No |
ClinGen gnomAD |
|
rs374001883 CA8385283 |
1699 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398111355 rs1567655646 |
1700 | E>G | No |
ClinGen Ensembl |
|
rs369483001 CA287737690 |
1700 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs200612449 CA8385282 |
1701 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385281 rs374764673 |
1701 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287737686 rs374764673 COSM1290622 |
1701 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8385276 rs765333403 |
1702 | T>N | No |
ClinGen ExAC gnomAD |
|
CA8385279 rs371176503 |
1702 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765333403 CA8385277 |
1702 | T>S | No |
ClinGen ExAC gnomAD |
|
rs371176503 CA8385278 |
1702 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142532419 CA8385274 COSM3402565 |
1703 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8385275 rs142532419 |
1703 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385273 rs763612530 |
1704 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8385272 rs760378346 |
1706 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1290174163 CA398111251 |
1707 | E>Q | No |
ClinGen gnomAD |
|
CA8385269 rs200581369 |
1708 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775658465 CA8385271 |
1708 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA8385270 rs772467798 |
1708 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA8385268 rs774804971 |
1709 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366641924 CA398111148 |
1710 | L>V | No |
ClinGen gnomAD |
|
rs771473458 CA8385267 |
1713 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs777944342 CA8385265 |
1715 | D>N | No |
ClinGen ExAC gnomAD |
|
rs777944342 CA398111040 |
1715 | D>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1716 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385264 rs550310783 |
1716 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398110995 rs550310783 |
1716 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1567655600 CA398110930 |
1718 | Q>H | No |
ClinGen Ensembl |
|
CA8385262 rs781329038 |
1718 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs749797884 CA287737620 |
1719 | L>I | No |
ClinGen Ensembl |
|
rs758265279 CA8385261 |
1719 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778944544 CA8385259 |
1722 | S>F | No |
ClinGen ExAC gnomAD |
|
CA398110806 rs753219040 |
1723 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1723 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385257 rs753219040 |
1723 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1410438667 CA398109296 |
1725 | T>I | No |
ClinGen gnomAD |
|
rs1303124925 CA398109288 |
1726 | S>N | No |
ClinGen gnomAD |
|
CA287736998 rs941799735 |
1727 | L>R | No |
ClinGen Ensembl |
|
rs973604088 CA287737001 |
1727 | L>V | No |
ClinGen gnomAD |
|
rs1296582763 CA398109266 |
1728 | I>T | No |
ClinGen gnomAD |
|
CA398109234 rs1368242647 |
1731 | K>E | No |
ClinGen TOPMed |
|
rs376331966 CA8385232 |
1732 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385231 rs751858574 |
1732 | K>I | No |
ClinGen ExAC gnomAD |
|
rs1175413675 CA398109209 |
1732 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1736 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1465129047 CA398109151 |
1737 | D>G | No |
ClinGen TOPMed |
|
rs550576967 CA287736991 |
1738 | I>T | No |
ClinGen 1000Genomes |
|
CA8385229 rs766746268 |
1739 | A>S | No |
ClinGen ExAC gnomAD |
|
CA287736989 rs868080632 |
1744 | E>D | No |
ClinGen Ensembl |
|
rs763287635 CA8385228 |
1744 | E>K | No |
ClinGen ExAC gnomAD |
|
CA398109045 rs1597882381 |
1745 | V>M | No |
ClinGen Ensembl |
|
rs369023941 CA8385227 |
1746 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398108956 rs1408118112 |
1748 | S>L | No |
ClinGen TOPMed |
|
CA398108941 rs990059671 |
1749 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs761931528 CA398108944 |
1749 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385225 rs761931528 |
1749 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287736982 rs983178964 |
1750 | Q>* | No |
ClinGen Ensembl |
|
CA398108929 rs1406129737 |
1750 | Q>H | No |
ClinGen Ensembl |
|
TCGA novel | 1752 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1257123887 CA398108897 |
1752 | S>Y | No |
ClinGen gnomAD |
|
CA398108887 rs1263784069 |
1753 | R>G | No |
ClinGen gnomAD |
|
CA398108834 rs768932070 |
1755 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768932070 CA8385223 |
1755 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398108821 rs1270182823 |
1755 | A>V | No |
ClinGen gnomAD |
|
rs747245672 CA8385222 |
1761 | K>E | No |
ClinGen ExAC gnomAD |
|
CA398108599 rs1567654878 |
1762 | A>T | No |
ClinGen Ensembl |
|
rs192011217 CA8385220 |
1764 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA398108506 rs1336008287 |
1765 | D>Y | No |
ClinGen gnomAD |
|
CA8385195 rs754482604 |
1766 | A>G | No |
ClinGen ExAC gnomAD |
|
CA398108323 rs1243939989 |
1766 | A>T | No |
ClinGen gnomAD |
|
CA8385193 rs779660813 |
1768 | M>V | No |
ClinGen ExAC gnomAD |
|
CA398108231 rs1324478666 |
1770 | A>P | No |
ClinGen gnomAD |
|
rs892828912 CA287736856 |
1771 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1294179486 CA398108189 |
1772 | E>K | No |
ClinGen gnomAD |
|
CA398108148 rs1294162732 |
1774 | K>Q | No |
ClinGen TOPMed |
|
rs750760369 CA8385191 |
1774 | K>T | No |
ClinGen ExAC gnomAD |
|
CA8385190 rs544634163 |
1775 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs574010739 CA8385189 |
1776 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1054513294 CA287736843 |
1778 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1597882142 CA398108033 |
1779 | T>P | No |
ClinGen Ensembl |
|
rs1371696911 CA398108013 |
1780 | S>G | No |
ClinGen gnomAD |
|
rs1201518583 CA398107999 |
1780 | S>I | No |
ClinGen gnomAD |
|
COSM1216147 rs377063691 CA8385187 |
1781 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1220304808 CA398107924 |
1782 | H>Q | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1784 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA287736838 rs370257882 |
1785 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370257882 CA8385185 |
1785 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8385186 rs760812296 |
1785 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA287736827 rs868435942 |
1786 | M>I | No |
ClinGen Ensembl |
|
rs983593518 CA287736836 |
1786 | M>L | No |
ClinGen Ensembl |
|
rs1597882115 CA398107793 |
1789 | N>T | No |
ClinGen Ensembl |
|
CA398107730 rs1597882112 |
1790 | L>R | No |
ClinGen Ensembl |
|
rs1276356511 CA398107722 |
1791 | E>* | No |
ClinGen gnomAD |
|
rs1567654742 CA398107718 |
1791 | E>A | No |
ClinGen Ensembl |
|
rs1276356511 CA398107728 |
1791 | E>K | No |
ClinGen gnomAD |
|
CA287736816 rs933042834 |
1792 | Q>H | No |
ClinGen Ensembl |
|
CA8385182 rs773006118 COSM1380684 |
1793 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs964295625 CA287736806 |
1798 | Q>* | No |
ClinGen Ensembl |
|
CA398107509 rs1597882095 |
1798 | Q>R | No |
ClinGen Ensembl |
|
rs187155752 CA8385180 |
1800 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs377199586 CA8385179 |
1802 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs182969555 CA8385176 |
1808 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs182969555 CA8385175 |
1808 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746473894 CA8385177 |
1808 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8385174 rs182969555 |
1808 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385173 rs539721099 |
1810 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8385171 rs754300115 |
1812 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287736770 rs201904067 |
1813 | K>E | No |
ClinGen 1000Genomes |
|
rs778373927 CA8385170 |
1814 | K>* | No |
ClinGen ExAC gnomAD |
|
rs1016965350 CA287736762 |
1816 | I>V | No |
ClinGen TOPMed |
|
CA8385169 rs756716302 |
1817 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1435981859 CA398106843 |
1820 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1435981859 CA398106842 |
1820 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA398106830 rs1280675052 |
1820 | E>V | No |
ClinGen gnomAD |
|
rs116935297 CA398106789 |
1822 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8385166 rs777846745 |
1822 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385167 rs116935297 |
1822 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398105275 rs140895457 |
1824 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374874203 CA8385141 |
1824 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385139 rs374874203 |
1824 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8385142 rs140895457 |
1824 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA398105255 rs1164342553 COSM3937229 |
1825 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs775259767 CA8385138 |
1825 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1486076943 CA398105106 |
1830 | L>R | No |
ClinGen gnomAD |
|
rs1241104008 CA398105080 |
1832 | V>M | No |
ClinGen gnomAD |
|
rs528285170 CA287733367 |
1836 | R>G | No |
ClinGen gnomAD |
|
rs748958560 CA8385133 |
1836 | R>K | No |
ClinGen ExAC gnomAD |
|
rs372183463 CA8385132 |
1836 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA287733334 rs953660690 |
1838 | A>T | No |
ClinGen TOPMed |
|
CA8385131 rs770281302 |
1838 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1216624743 CA398104899 |
1840 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA398104863 rs1270039398 |
1841 | L>P | No |
ClinGen gnomAD |
|
rs1428854180 CA398104845 |
1842 | K>E | No |
ClinGen gnomAD |
|
CA8385130 rs748590797 |
1842 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398104838 rs748590797 |
1842 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1468709287 CA398104822 |
1843 | G>A | No |
ClinGen TOPMed |
|
TCGA novel | 1843 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA398104817 rs1303785591 |
1844 | A>D | No |
ClinGen gnomAD |
|
CA398104811 rs1424134217 |
1845 | H>R | No |
ClinGen gnomAD |
|
CA398104812 rs1597880706 |
1845 | H>Y | No |
ClinGen Ensembl |
|
CA398104765 rs1363570958 |
1846 | K>M | No |
ClinGen gnomAD |
|
rs369185144 CA8385128 |
1847 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781531789 CA8385129 |
1847 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs559233974 CA8385126 |
1849 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1597880694 CA398104692 |
1849 | R>H | No |
ClinGen Ensembl |
|
rs1181950176 CA398104633 |
1851 | V>A | No |
ClinGen TOPMed |
|
rs758559636 CA8385125 |
1853 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs758559636 CA398104589 |
1853 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs760697599 CA8385123 |
1854 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752555483 CA8385121 |
1856 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755881748 CA8385122 |
1856 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1157509523 CA398104498 |
1857 | Q>K | No |
ClinGen TOPMed |
|
rs767313943 CA8385120 |
1857 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385098 rs761201873 |
1858 | A>D | No |
ClinGen ExAC gnomAD |
|
rs761201873 CA8385099 |
1858 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1454323843 CA398104373 |
1859 | E>A | No |
ClinGen gnomAD |
|
CA8385097 rs372224078 |
1859 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs912177822 CA287733066 |
1860 | E>* | No |
ClinGen Ensembl |
|
CA8385095 rs761531272 |
1861 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_030234 rs3744550 CA8385092 |
1862 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8385093 rs769053503 |
1862 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA398104290 rs1250359710 |
1863 | K>E | No |
ClinGen gnomAD |
|
rs372688195 CA8385091 |
1863 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772590454 CA8385090 |
1868 | L>F | No |
ClinGen ExAC gnomAD |
|
CA287733014 rs745908111 |
1869 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8385089 rs745908111 |
1869 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1873 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749510137 CA8385086 |
1873 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs953614598 CA287732970 |
1875 | L>M | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1877 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs530814088 CA398104012 |
1877 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs530814088 CA8385085 |
1877 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs373608771 CA8385083 |
1882 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754772846 CA8385084 |
1882 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1386598451 CA398103859 |
1883 | K>E | No |
ClinGen gnomAD |
|
rs780094985 CA8385082 |
1885 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA398103792 rs1452680772 |
1886 | A>T | No |
ClinGen gnomAD |
|
CA8385081 rs758441670 |
1889 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8385080 rs749886416 |
1889 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1324275008 | 1890 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA398102859 rs1284806392 |
1891 | E>K | No |
ClinGen gnomAD |
|
rs370658920 CA8385054 |
1892 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369450938 CA398102801 |
1892 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA398102814 rs1487586810 |
1892 | Q>R | No |
ClinGen gnomAD |
|
rs1342885807 CA398102763 |
1894 | N>S | No |
ClinGen TOPMed |
|
rs376251517 CA8385051 COSM3378063 |
1895 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs376251517 CA8385050 |
1895 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1597879832 CA398102717 |
1896 | Q>R | No |
ClinGen Ensembl |
|
CA8385046 rs771990352 COSM1158905 |
1901 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs189776455 CA8385047 |
1901 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA398102531 rs1567653277 |
1905 | H>Y | No |
ClinGen Ensembl |
|
rs1480925683 CA398102473 |
1907 | L>I | No |
ClinGen gnomAD |
|
rs1007359948 CA287731719 |
1909 | E>* | No |
ClinGen TOPMed |
|
CA8385044 rs572120351 |
1911 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8385043 rs572120351 |
1911 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs748764993 CA8385042 |
1911 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287731661 rs1038428614 |
1914 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs374501016 CA287731659 |
1915 | D>N | No |
ClinGen ESP TOPMed |
|
rs752339155 CA8385038 |
1916 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8385036 rs371179959 |
1917 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs200996524 CA8385034 |
1918 | E>D | No |
ClinGen 1000Genomes ExAC |
|
TCGA novel | 1918 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs554170134 CA8385035 |
1918 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs763378357 CA398102074 |
1920 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1920 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385032 rs750459423 |
1922 | N>H | No |
ClinGen ExAC gnomAD |
|
rs376976583 CA8385031 |
1922 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1219671921 CA398102028 |
1922 | N>K | No |
ClinGen TOPMed |
|
CA287731623 rs903207887 |
1924 | L>M | No |
ClinGen TOPMed |
|
rs762053114 CA8385030 |
1924 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1179087371 CA398101986 |
1925 | R>G | No |
ClinGen gnomAD |
|
CA398101974 rs1470414088 |
1925 | R>K | No |
ClinGen gnomAD |
|
CA8385028 rs769019864 |
1926 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1471200403 CA398101925 |
1927 | K>* | No |
ClinGen gnomAD |
|
rs571754464 COSM1380680 CA8385027 |
1929 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs538446950 CA8385025 |
1929 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs538446950 CA8385026 |
1929 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs777830723 CA8385023 |
1931 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA287731567 rs975296784 |
1933 | S>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1933 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8385004 rs369694031 |
1936 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1209522787 CA398101561 |
1936 | M>V | No |
ClinGen TOPMed |
|
CA8385002 rs747620584 |
1937 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769748434 CA8385003 |
1937 | E>K | No |
ClinGen ExAC gnomAD |
|
CA398101501 rs1003111759 |
1938 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1003111759 CA287731016 |
1938 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA398101498 rs1003111759 |
1938 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA8385001 rs780689329 |
1939 | E>L | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UKX3
8 regional properties for Q9UKX3
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 478 - 763 | IPR000719 |
domain | S-locus glycoprotein domain | 198 - 305 | IPR000858 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 480 - 746 | IPR001245 |
domain | Bulb-type lectin domain | 16 - 166 | IPR001480 |
domain | PAN/Apple domain | 326 - 408 | IPR003609 |
active_site | Serine/threonine-protein kinase, active site | 599 - 611 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 484 - 506 | IPR017441 |
domain | S-locus receptor kinase, C-terminal | 750 - 792 | IPR021820 |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
4 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
2 GO annotations of biological process
Name | Definition |
---|---|
cellular response to starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment. |
muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSSDAEMAIF | GEAAPYLRKP | EKERIEAQNR | PFDSKKACFV | ADNKEMYVKG | MIQTRENDKV |
70 | 80 | 90 | 100 | 110 | 120 |
IVKTLDDRML | TLNNDQVFPM | NPPKFDKIED | MAMMTHLHEP | AVLYNLKERY | AAWMIYTYSG |
130 | 140 | 150 | 160 | 170 | 180 |
LFCVTVNPYK | WLPVYKPEVV | AAYRGKKRQE | APPHIFSISD | NAYQFMLTDR | DNQSILITGE |
190 | 200 | 210 | 220 | 230 | 240 |
SGAGKTVNTK | RVIQYFATIA | VTGDKKKETQ | PGKMQGTLED | QIIQANPLLE | AFGNAKTVRN |
250 | 260 | 270 | 280 | 290 | 300 |
DNSSRFGKFI | RIHFGATGKL | ASADIETYLL | EKSRVTFQLS | SERSYHIFYQ | IMSNKKPELI |
310 | 320 | 330 | 340 | 350 | 360 |
DLLLISTNPF | DFPFVSQGEV | TVASIDDSEE | LLATDNAIDI | LGFSSEEKVG | IYKLTGAVMH |
370 | 380 | 390 | 400 | 410 | 420 |
YGNMKFKQKQ | REEQAEPDGT | EVADKAGYLM | GLNSAEMLKG | LCCPRVKVGN | EYVTKGQNVQ |
430 | 440 | 450 | 460 | 470 | 480 |
QVTNSVGALA | KAVYEKMFLW | MVTRINQQLD | TKQPRQYFIG | VLDIAGFEIF | DFNSLEQLCI |
490 | 500 | 510 | 520 | 530 | 540 |
NFTNEKLQQF | FNHHMFVLEQ | EEYKKEGIEW | EFIDFGMDLA | ACIELIEKPM | GIFSILEEEC |
550 | 560 | 570 | 580 | 590 | 600 |
MFPKATDTSF | KNKLYDQHLG | KSNNFQKPKP | AKGKAEAHFS | LVHYAGTVDY | NIAGWLDKNK |
610 | 620 | 630 | 640 | 650 | 660 |
DPLNETVVGL | YQKSSLKLLS | FLFSNYAGAE | TGDSGGSKKG | GKKKGSSFQT | VSAVFRENLN |
670 | 680 | 690 | 700 | 710 | 720 |
KLMTNLRSTH | PHFVRCLIPN | ETKTPGVMDH | YLVMHQLRCN | GVLEGIRICR | KGFPSRILYA |
730 | 740 | 750 | 760 | 770 | 780 |
DFKQRYRILN | ASAIPEGQFI | DSKNASEKLL | NSIDVDREQF | RFGNTKVFFK | AGLLGLLEEM |
790 | 800 | 810 | 820 | 830 | 840 |
RDEKLVTLMT | STQAVCRGYL | MRVEFKKMME | RRDSIFCIQY | NIRSFMNVKH | WPWMNLFFKI |
850 | 860 | 870 | 880 | 890 | 900 |
KPLLKSAEAE | KEMATMKEDF | ERTKEELARS | EARRKELEEK | MVSLLQEKND | LQLQVQSETE |
910 | 920 | 930 | 940 | 950 | 960 |
NLMDAEERCE | GLIKSKILLE | AKVKELTERL | EEEEEMNSEL | VAKKRNLEDK | CSSLKRDIDD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LELTLTKVEK | EKHATENKVK | NLSEEMTALE | ENISKLTKEK | KSLQEAHQQT | LDDLQVEEDK |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
VNGLIKINAK | LEQQTDDLEG | SLEQEKKLRA | DLERAKRKLE | GDLKMSQESI | MDLENDKQQI |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
EEKLKKKEFE | LSQLQAKIDD | EQVHSLQFQK | KIKELQARIE | ELEEEIEAEH | TLRAKIEKQR |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
SDLARELEEI | SERLEEASGA | TSAQIEMNKK | REAEFQKMRR | DLEEATLQHE | ATAATLRKKQ |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
ADSVAELGEQ | IDNLQRVKQK | LEKEKSELKM | EIDDMASNIE | ALSKSKSNIE | RTCRTVEDQF |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
SEIKAKDEQQ | TQLIHDLNMQ | KARLQTQNGE | LSHRVEEKES | LISQLTKSKQ | ALTQQLEELK |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
RQMEEETKAK | NAMAHALQSS | RHDCDLLREQ | YEEEQEAKAE | LQRALSKANS | EVAQWRTKYE |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
TDAIQRTEEL | EEAKKKLAQR | LQEAEENTET | ANSKCASLEK | TKQRLQGEVE | DLMRDLERSH |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
TACATLDKKQ | RNFDKVLAEW | KQKLDESQAE | LEAAQKESRS | LSTELFKMRN | AYEEVVDQLE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
TLRRENKNLQ | EEISDLTEQI | AETGKNLQEA | EKTKKLVEQE | KSDLQVALEE | VEGSLEHEES |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
KILRVQLELS | QVKSELDRKV | IEKDEEIEQL | KRNSQRAAEA | LQSVLDAEIR | SRNDALRLKK |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
KMEGDLNEME | IQLGHSNRQM | AETQKHLRTV | QGQLKDSQLH | LDDALRSNED | LKEQLAIVER |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
RNGLLLEELE | EMKVALEQTE | RTRRLSEQEL | LDASDRVQLL | HSQNTSLINT | KKKLEADIAQ |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
CQAEVENSIQ | ESRNAEEKAK | KAITDAAMMA | EELKKEQDTS | AHLERMKKNL | EQTVKDLQHR |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
LDEAEQLALK | GGKKQIQKLE | NRVRELENEL | DVEQKRGAEA | LKGAHKYERK | VKEMTYQAEE |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
DHKNILRLQD | LVDKLQAKVK | SYKRQAEEAE | EQANTQLSRC | RRVQHELEEA | AERADIAESQ |
1930 | |||||
VNKLRAKSRD | VGSQKMEE |