P13497
PR
Gene name |
BMP1 (PCOLC) |
Protein name |
Bone morphogenetic protein 1 |
Names |
BMP-1, Mammalian tolloid protein, mTld, Procollagen C-proteinase, PCP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:649 |
EC number |
3.4.24.19: Metalloendopeptidases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for P13497
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EDG | X-ray | 127 A | A | 121-321 | PDB |
| 3EDH | X-ray | 125 A | A | 121-321 | PDB |
| 6BSL | X-ray | 145 A | A/B | 121-321 | PDB |
| 6BSM | X-ray | 233 A | A | 121-320 | PDB |
| 6BTN | X-ray | 205 A | A/B | 121-321 | PDB |
| 6BTO | X-ray | 205 A | A/B | 121-321 | PDB |
| 6BTP | X-ray | 193 A | A/B | 121-320 | PDB |
| 6BTQ | X-ray | 175 A | A/B | 121-321 | PDB |
| AF-P13497-F1 | Predicted | AlphaFoldDB |
803 variants for P13497
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA130156 RCV000059794 rs318240762 VAR_069096 RCV001814013 RCV000030847 |
12 | G>R | Osteogenesis imperfecta type 13 OI13; the mutation leads to severely reduced post-translational N-glycosylation of the protein and impairs protein secretion; leads to both reduced secretion and subsequent reduced processing of the substrates CHRD and COL1A1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV003105886 RCV000336953 rs886062818 CA10625173 |
60 | E>K | Variant assessed as Somatic; impact. Osteogenesis imperfecta type 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000728387 RCV002535071 CA4664248 rs200568225 |
139 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000292289 CA4664249 rs762726234 |
141 | G>R | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001164027 CA4664273 rs376680208 |
152 | R>Q | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000030846 CA130155 VAR_067224 rs398122891 |
249 | F>L | Osteogenesis imperfecta type 13 OI13; leads to a protein with deficient procollagen I C-terminal propeptide proteolytic activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs786205219 RCV000170455 CA199631 VAR_072248 |
270 | M>V | Osteogenesis imperfecta type 13 OI13; partial loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1357950133 CA370543643 RCV000860010 |
306 | S>R | Osteogenesis imperfecta type III [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002276647 CA4664472 RCV001159119 RCV001514047 rs538263166 |
314 | R>H | Osteogenesis imperfecta Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000730626 RCV002535159 rs143279632 CA4664513 COSM1098048 COSM1597632 |
349 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001335379 rs1828947056 |
361 | I>F | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414178 CA4664551 RCV000390419 rs145284541 RCV002278618 RCV000883054 |
371 | R>H | Osteogenesis imperfecta Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4664574 RCV000314423 rs772355766 |
393 | R>Q | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000860016 rs1586459952 CA370492796 |
405 | I>M | Osteogenesis imperfecta type III [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA199632 rs786205220 RCV000170456 |
433 | A>S | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA370494250 RCV000309014 rs768570264 CA4664702 |
507 | G>R | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001160469 COSM1456067 CA4664703 COSM309484 rs376781195 |
508 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine Osteogenesis imperfecta type 13 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4664721 RCV002524558 RCV000264478 rs753963317 |
542 | V>I | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4664760 rs373433474 RCV001160471 RCV001882506 |
560 | E>K | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000303001 CA4664761 rs775940520 |
562 | R>W | Variant assessed as Somatic; 4.63e-05 impact. Osteogenesis imperfecta type 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002558548 rs374534506 RCV001162105 RCV002558547 CA4664858 |
602 | I>V | Inborn genetic diseases Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001162106 CA4664870 rs752330967 |
623 | A>V | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA4664913 RCV001162109 COSM1597621 COSM1098060 rs199971581 |
682 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Osteogenesis imperfecta type 13 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000433788 RCV002278621 rs201303856 RCV000316055 CA4664923 |
692 | S>F | Osteogenesis imperfecta Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000170454 CA199628 rs786205218 |
703 | D>H | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000597608 RCV001162110 CA4665133 rs117159093 |
712 | G>S | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs11996036 VAR_051584 CA4665138 RCV000610827 RCV002058722 RCV000263437 |
719 | V>I | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001164124 CA4665197 rs750695022 |
774 | T>M | Variant assessed as Somatic; 0.0 impact. Osteogenesis imperfecta type 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000295296 rs886062819 CA10627499 |
810 | G>E | Variant assessed as Somatic; impact. Osteogenesis imperfecta type 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA4665247 RCV001159220 rs780689541 |
813 | A>T | Variant assessed as Somatic; 0.0 impact. Osteogenesis imperfecta type 13 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001580015 CA4665258 rs80019749 RCV000834502 RCV002278624 RCV000289432 |
817 | V>A | Osteogenesis imperfecta Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002544425 CA4665271 RCV000930684 rs140324769 |
830 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1829384655 RCV001332739 |
848 | Q>R | Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4665323 RCV001861319 RCV000399111 RCV002523672 rs142443043 |
865 | R>Q | Inborn genetic diseases Osteogenesis imperfecta type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1017982089 CA173484787 |
2 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4664123 rs781421569 |
3 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664124 rs748283868 |
4 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1364792502 CA370539621 |
5 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA370539622 rs1364792502 |
5 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370539627 rs1300045983 |
6 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370539628 rs1300045983 |
6 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs778373466 CA4664128 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778373466 CA173484856 |
8 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778373466 CA4664127 |
8 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756525361 CA4664126 |
8 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173484852 rs756525361 |
8 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773206592 CA4664135 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA370539680 rs1362079805 |
17 | P>T | No |
ClinGen gnomAD |
|
|
CA4664137 rs766268439 |
18 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664138 rs751470938 |
18 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455383733 CA370539720 |
20 | G>V | No |
ClinGen gnomAD |
|
|
CA173484961 rs752781420 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664141 rs752781420 |
22 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1386324434 CA370539737 |
22 | P>S | No |
ClinGen gnomAD |
|
|
CA4664142 rs756220140 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778082841 CA4664144 |
26 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778082841 CA370539779 |
26 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778082841 CA4664143 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA173484989 rs866875012 |
26 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370539807 rs1210959153 |
28 | Y>C | No |
ClinGen gnomAD |
|
|
rs1465040555 CA370539815 |
29 | T>S | No |
ClinGen gnomAD |
|
|
rs1387788176 CA370539831 |
30 | Y>S | No |
ClinGen TOPMed |
|
|
rs746281763 CA4664147 |
33 | A>V | No |
ClinGen ExAC |
|
|
rs990593158 CA173485009 |
34 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1199493098 CA370539887 |
35 | E>K | No |
ClinGen gnomAD |
|
|
rs1161097944 CA370539916 |
37 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs561644531 CA4664151 |
40 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs941049889 CA173485015 |
40 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4664153 rs762947562 |
42 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448258486 CA370539988 |
43 | Y>D | No |
ClinGen TOPMed |
|
| VAR_036141 | 45 | D>H | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1036680473 CA173485027 |
46 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4664154 rs771035694 |
48 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230662879 CA370540067 |
49 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774235911 CA4664155 |
49 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380287347 CA370540501 |
50 | A>D | No |
ClinGen gnomAD |
|
|
CA370540072 rs1321444050 |
50 | A>T | No |
ClinGen gnomAD |
|
|
CA370540513 rs1452956915 |
51 | A>D | No |
ClinGen gnomAD |
|
|
rs1586436524 CA370540511 |
51 | A>S | No |
ClinGen Ensembl |
|
|
CA4664180 rs202096263 |
53 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1206356937 CA370540540 |
53 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370540548 rs1362420861 |
54 | G>A | No |
ClinGen gnomAD |
|
|
rs1362420861 CA370540552 |
54 | G>E | No |
ClinGen gnomAD |
|
|
CA370540563 rs1296297920 |
55 | D>V | No |
ClinGen gnomAD |
|
|
rs761912780 CA4664183 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370540590 rs1386404824 |
58 | L>V | No |
ClinGen TOPMed |
|
|
rs765667672 CA370540611 |
59 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370540637 rs1246352327 |
61 | E>G | No |
ClinGen gnomAD |
|
|
CA4664185 rs750943467 |
62 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664187 rs766763902 |
63 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1425131652 CA370540672 |
64 | R>K | No |
ClinGen gnomAD |
|
|
CA370540688 rs1431922732 |
65 | A>D | No |
ClinGen gnomAD |
|
|
rs751913220 CA4664188 |
67 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1422817588 CA370540755 RCV000515060 |
70 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs748760901 CA4664191 |
70 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4664192 rs140513402 |
71 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4664193 rs778621366 |
72 | V>L | No |
ClinGen ExAC |
|
|
CA4664195 rs757507781 |
76 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4664194 rs201377252 COSM1456057 COSM1456058 |
76 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664196 rs749322856 |
78 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370540848 rs1563240428 |
79 | A>T | No |
ClinGen Ensembl |
|
|
CA173490971 rs932906251 |
79 | A>V | No |
ClinGen TOPMed |
|
|
rs368435767 CA173490973 |
80 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs73549580 CA4664197 |
80 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4664198 rs768884014 |
81 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4664199 rs776722785 |
82 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370540891 rs1267232582 |
84 | I>V | No |
ClinGen TOPMed |
|
|
rs1216652180 CA370540916 |
86 | A>G | No |
ClinGen gnomAD |
|
|
CA4664200 rs182752138 |
87 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370541121 rs1283891659 |
89 | P>R | No |
ClinGen gnomAD |
|
|
rs1377209021 CA370541126 |
90 | G>E | No |
ClinGen gnomAD |
|
|
rs770045896 CA4664221 |
92 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4664222 RCV000728908 rs773257916 |
92 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs770045896 CA370541137 |
92 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA370541152 rs1371876007 |
94 | T>I | No |
ClinGen TOPMed |
|
|
CA370541150 rs1371876007 |
94 | T>N | No |
ClinGen TOPMed |
|
|
CA370541147 rs1586438984 |
94 | T>P | No |
ClinGen Ensembl |
|
|
CA370541162 rs1470345633 |
96 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370541165 rs1277327210 |
96 | S>R | No |
ClinGen gnomAD |
|
|
rs1408335373 CA370541181 |
98 | Q>H | No |
ClinGen TOPMed |
|
|
CA370541186 rs1438817196 |
99 | S>N | No |
ClinGen gnomAD |
|
|
rs201834665 CA173491724 |
101 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA173491730 rs984549151 |
102 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA370541220 rs1185001376 |
104 | P>R | No |
ClinGen gnomAD |
|
|
rs147403315 CA4664224 |
104 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370541233 rs1385348378 |
106 | R>K | No |
ClinGen gnomAD |
|
|
rs774730200 CA4664225 |
106 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA370541245 rs1398538193 |
108 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4664226 rs760143425 |
108 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA370541246 rs1398538193 |
108 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4664227 rs538577401 |
109 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1586439067 CA370541253 |
109 | C>W | No |
ClinGen Ensembl |
|
|
CA4664228 rs753150982 |
110 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370541269 rs1450497433 |
112 | W>* | No |
ClinGen gnomAD |
|
|
CA370541273 rs1315922517 |
112 | W>C | No |
ClinGen gnomAD |
|
|
CA173491765 rs1030509678 |
113 | R>K | No |
ClinGen TOPMed |
|
|
rs1240779184 CA370541283 |
114 | G>D | No |
ClinGen TOPMed |
|
|
CA173491768 rs890182022 |
114 | G>S | No |
ClinGen TOPMed |
|
|
CA4664230 rs765002475 |
115 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA370541291 rs1226261533 |
115 | R>S | No |
ClinGen gnomAD |
|
|
rs749912889 CA4664231 |
116 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA370541309 CA4664233 rs779984750 |
118 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972285384 CA173491782 |
119 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370541311 COSM1154976 COSM1098044 rs1262108882 |
119 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4664234 rs751439911 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755012534 CA370541322 |
121 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755012534 CA4664235 |
121 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1454031543 CA370541327 |
122 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309208761 CA370541325 |
122 | A>S | No |
ClinGen TOPMed |
|
|
rs1454031543 CA370541328 |
122 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370541343 rs139598412 |
125 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370541344 rs139598412 |
125 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664238 rs139598412 |
125 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475711729 CA370541347 |
126 | P>S | No |
ClinGen gnomAD |
|
|
CA370541351 rs1399796427 |
127 | E>K | No |
ClinGen gnomAD |
|
|
rs199997493 CA4664241 |
128 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4664243 rs759927623 |
129 | V>A | No |
ClinGen ExAC |
|
|
CA173491798 rs923508280 |
129 | V>M | No |
ClinGen TOPMed |
|
|
rs142554453 CA4664244 |
131 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761152073 CA4664246 |
132 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1586439266 CA370541398 |
134 | V>G | No |
ClinGen Ensembl |
|
|
CA370541411 rs1273519099 |
136 | P>H | No |
ClinGen gnomAD |
|
|
rs1347652068 CA370541425 |
138 | V>D | No |
ClinGen gnomAD |
|
|
CA370541461 rs1206381427 |
144 | T>P | No |
ClinGen gnomAD |
|
|
CA370541492 rs1586439587 |
146 | S>R | No |
ClinGen Ensembl |
|
|
rs890599551 CA173491902 |
147 | Q>E | No |
ClinGen TOPMed |
|
|
rs986357924 CA173491906 |
148 | R>K | No |
ClinGen gnomAD |
|
|
rs910528649 CA173491908 |
148 | R>S | No |
ClinGen Ensembl |
|
|
CA370541506 rs1438965494 |
149 | A>P | No |
ClinGen TOPMed |
|
|
CA4664271 rs752613212 |
150 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173491912 rs947372277 |
151 | F>L | No |
ClinGen Ensembl |
|
|
CA4664272 rs756107073 |
152 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1212575534 CA370541534 |
154 | A>T | No |
ClinGen gnomAD |
|
|
rs753714225 CA4664274 |
155 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264019679 CA370541555 |
157 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 158 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178694729 CA370541614 |
164 | V>A | No |
ClinGen gnomAD |
|
|
CA4664276 rs779226795 |
166 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745868095 COSM1456059 CA4664277 COSM1456060 |
169 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4664278 rs758566212 |
171 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370541681 rs1445249078 |
174 | S>N | No |
ClinGen gnomAD |
|
|
rs1337481869 COSM1184757 COSM1184756 CA370541729 |
181 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748570715 CA4664283 |
182 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776839778 CA4664282 |
182 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4664285 rs369136142 |
184 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3395233 COSM3395230 COSM3395229 CA370541843 rs1179003034 |
189 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776653587 CA4664310 |
191 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1157870499 CA370541861 |
191 | R>H | No |
ClinGen gnomAD |
|
|
rs776653587 CA370541857 |
191 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA370541868 rs1342937363 |
192 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1342937363 CA370541865 |
192 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1284985669 CA370541897 |
195 | G>C | No |
ClinGen gnomAD |
|
|
rs1346491428 CA370541898 |
195 | G>D | No |
ClinGen TOPMed |
|
|
CA4664316 rs766719306 |
199 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1216588217 CA370541946 |
200 | S>Y | No |
ClinGen gnomAD |
|
|
CA4664318 rs755136816 |
202 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349808945 CA370541994 |
205 | C>R | No |
ClinGen TOPMed |
|
|
rs1202173763 CA370542013 |
206 | D>G | No |
ClinGen gnomAD |
|
|
rs1586440228 CA370542053 |
210 | I>V | No |
ClinGen Ensembl |
|
|
CA4664319 rs781498860 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348747141 CA370542113 |
216 | G>D | No |
ClinGen gnomAD |
|
|
rs778189734 CA4664322 |
218 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4664324 rs771647443 |
219 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1467195854 CA370542148 |
220 | G>R | No |
ClinGen TOPMed |
|
|
CA370542179 rs1278071433 |
222 | W>C | No |
ClinGen gnomAD |
|
|
CA4664326 rs746474019 |
223 | H>R | No |
ClinGen ExAC |
|
|
CA4664329 rs761804891 |
226 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357286507 CA370542222 |
227 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1202826341 CA370542247 |
230 | R>W | No |
ClinGen gnomAD |
|
|
rs1230866996 CA370542259 |
231 | D>G | No |
ClinGen gnomAD |
|
|
rs905106665 CA173492107 |
232 | R>C | No |
ClinGen gnomAD |
|
|
CA370542271 rs1177387113 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1189215947 CA370542288 |
233 | H>Q | No |
ClinGen TOPMed |
|
|
CA4664332 rs762843032 |
235 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs368374276 CA4664334 |
237 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766665966 CA4664333 |
237 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664335 rs759722432 |
238 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA370542334 rs1356018546 |
238 | R>H | No |
ClinGen gnomAD |
|
|
CA4664338 rs149856199 |
239 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4664339 rs201876514 |
241 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773376817 CA370543123 |
244 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773376817 CA4664419 |
244 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586441508 CA370543167 |
247 | Y>D | No |
ClinGen Ensembl |
|
|
rs763361884 CA4664420 |
252 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA370543228 rs1294753421 |
252 | M>L | No |
ClinGen gnomAD |
|
|
CA173492404 rs201721564 |
252 | M>T | No |
ClinGen 1000Genomes |
|
|
rs371139780 CA4664421 |
254 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371139780 CA370543252 |
254 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371139780 CA370543249 |
254 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664422 rs774517495 |
256 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA173492411 rs868714314 |
257 | V>G | No |
ClinGen Ensembl |
|
|
rs1323114453 CA370543302 |
258 | E>G | No |
ClinGen gnomAD |
|
|
rs868245124 CA173492418 |
258 | E>K | No |
ClinGen Ensembl |
|
|
rs776402680 CA4664425 |
260 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA173492433 rs904296919 |
263 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs555486532 CA173492435 |
263 | T>I | No |
ClinGen 1000Genomes |
|
|
rs764649614 CA4664427 |
267 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370543385 rs1173733217 |
268 | S>G | No |
ClinGen gnomAD |
|
|
rs367603688 CA4664429 |
270 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370543406 rs1366326709 |
271 | H>Y | No |
ClinGen Ensembl |
|
|
CA370543423 rs751313930 |
273 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM183113 rs751313930 CA4664431 |
273 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4664433 rs781010518 |
274 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781010518 CA370543428 |
274 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664432 rs754789208 |
274 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947745455 CA173492442 |
276 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767291949 CA4664454 COSM1597633 COSM1098045 |
280 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306363534 CA370543476 |
280 | G>S | No |
ClinGen gnomAD |
|
|
rs752543410 CA4664455 |
282 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370543498 rs1215913402 |
283 | L>P | No |
ClinGen TOPMed |
|
|
rs778091591 CA4664457 |
286 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281481632 CA370543542 |
290 | Y>H | No |
ClinGen TOPMed |
|
|
CA370543553 rs1586443797 |
291 | E>D | No |
ClinGen Ensembl |
|
|
CA4664459 rs146866668 |
291 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746374795 CA4664461 |
294 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4664463 rs775941048 |
295 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1456066 rs770440497 CA4664468 COSM1456065 |
304 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664467 rs73670368 |
304 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA173493101 rs940297574 |
305 | L>R | No |
ClinGen TOPMed |
|
|
rs1357950133 CA370543641 |
306 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1248749437 CA370543659 |
308 | G>R | No |
ClinGen gnomAD |
|
|
CA173493105 rs995601079 |
310 | I>T | No |
ClinGen Ensembl |
|
|
CA4664469 rs570945262 |
310 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4664470 rs759788461 |
311 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767453320 CA4664471 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA173493110 rs538263166 |
314 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4664474 rs763846138 |
318 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476347042 CA370543758 |
320 | P>A | No |
ClinGen TOPMed |
|
|
rs1272321685 CA370543867 |
325 | T>N | No |
ClinGen gnomAD |
|
|
rs752073136 CA4664499 |
328 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA173493330 rs750808875 |
331 | G>D | No |
ClinGen Ensembl |
|
|
CA4664500 rs755501101 |
334 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1201645233 CA370543971 |
335 | S>Y | No |
ClinGen gnomAD |
|
|
CA4664503 rs770500738 |
336 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs146604892 CA4664502 |
336 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664504 rs778562515 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168774700 CA370544023 |
340 | N>S | No |
ClinGen gnomAD |
|
|
CA173493340 rs879048776 |
342 | Y>* | No |
ClinGen Ensembl |
|
|
CA173493342 rs745571172 |
343 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664505 rs745571172 |
343 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664508 rs746954049 |
345 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373658996 CA4664509 |
346 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373658996 CA370544084 |
346 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664510 rs776421848 |
347 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049029535 CA173493351 |
347 | H>Q | No |
ClinGen TOPMed |
|
|
rs776421848 CA173493348 |
347 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143279632 CA4664512 |
349 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173493361 rs1037116854 |
351 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1673796 rs577420762 CA4664514 COSM1673797 |
351 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs577420762 CA4664515 |
351 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866070053 CA173493368 |
356 | P>L | No |
ClinGen Ensembl |
|
|
rs1349260331 CA370544176 |
356 | P>S | No |
ClinGen gnomAD |
|
|
rs371320295 CA370544181 CA4664520 |
357 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173493374 rs932431314 |
358 | E>K | No |
ClinGen Ensembl |
|
|
CA370544196 rs1482682179 |
359 | K>T | No |
ClinGen TOPMed |
|
|
rs748093647 CA4664545 |
365 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1586457843 CA370490585 |
368 | D>A | No |
ClinGen Ensembl |
|
|
CA4664548 rs749096543 |
368 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1586457857 CA370490644 |
370 | Y>S | No |
ClinGen Ensembl |
|
|
rs774416710 CA4664550 COSM1098049 COSM1154979 |
371 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772044431 CA4664552 |
372 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4664554 rs375180557 |
373 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775608544 CA4664553 |
373 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664555 rs546434435 |
375 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs754163512 CA4664556 |
376 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664558 rs765681002 |
378 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430360113 CA370490862 |
378 | D>G | No |
ClinGen TOPMed |
|
|
rs945755549 CA173464618 |
378 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 379 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370490876 rs1327716999 |
379 | Y>H | No |
ClinGen TOPMed |
|
|
rs1460914500 CA370490879 |
379 | Y>S | No |
ClinGen gnomAD |
|
|
rs879092987 CA173464622 |
380 | V>A | No |
ClinGen gnomAD |
|
|
CA370490898 rs879092987 |
380 | V>E | No |
ClinGen gnomAD |
|
|
CA4664559 rs751139262 |
380 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs754727375 CA4664561 |
383 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752265892 CA4664562 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370491018 rs1563261630 |
385 | G>S | No |
ClinGen Ensembl |
|
|
rs1041472997 CA173464644 |
389 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749040090 CA4664566 |
390 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1416858269 CA370491168 |
390 | A>P | No |
ClinGen TOPMed |
|
|
CA370491184 rs749040090 |
390 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4664570 rs550032501 |
391 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4664571 rs550032501 |
391 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 393 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746069533 CA4664573 |
393 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1426726501 CA370492607 |
395 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4664595 rs375380551 |
395 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375380551 CA4664596 |
395 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664598 rs748589871 |
398 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370492706 rs1586459900 |
400 | K>N | No |
ClinGen Ensembl |
|
|
CA173465362 rs920550912 |
401 | L>F | No |
ClinGen Ensembl |
|
|
rs1586459910 CA370492725 |
401 | L>P | No |
ClinGen Ensembl |
|
|
rs200923529 CA173465363 |
402 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4664600 rs773378296 |
403 | E>K | No |
ClinGen ExAC |
|
|
rs146154085 CA173465368 |
403 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763402562 CA4664601 |
405 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs138976457 CA4664602 |
406 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367846590 CA4664603 |
408 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664604 rs760472990 |
411 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664605 rs184592914 |
411 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4664607 rs757080541 |
414 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs753405601 CA4664606 |
414 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757080541 CA370492953 |
414 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA173465389 rs867127454 |
415 | E>K | No |
ClinGen Ensembl |
|
|
rs147413726 CA4664608 RCV002993593 |
417 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750136928 CA4664609 |
417 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147413726 CA370493002 |
417 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664610 rs758168660 |
420 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1207790464 CA370493083 |
423 | V>A | No |
ClinGen TOPMed |
|
|
CA4664612 rs747225661 |
424 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs867923181 CA173465403 |
425 | K>E | No |
ClinGen TOPMed |
|
|
rs1441470496 CA370493099 |
426 | G>D | No |
ClinGen gnomAD |
|
|
CA370493112 rs1268703922 |
428 | F>L | No |
ClinGen TOPMed |
|
|
rs755250258 CA4664613 |
430 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs781190590 CA4664614 |
430 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370493135 rs770157559 |
431 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773787666 CA4664617 |
432 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370493203 rs1277237905 |
434 | I>S | No |
ClinGen gnomAD |
|
|
CA370493195 rs1198703435 |
434 | I>V | No |
ClinGen gnomAD |
|
|
rs768374444 RCV000597296 CA4664639 |
436 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1237858309 CA370493226 |
436 | G>V | No |
ClinGen gnomAD |
|
|
rs1190159845 CA370493237 |
437 | G>V | No |
ClinGen TOPMed |
|
|
CA370493245 rs1483066745 |
438 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 439 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1028028067 CA173465529 |
441 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761413232 CA4664641 |
442 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA173465533 rs1055881481 |
443 | Y>C | No |
ClinGen TOPMed |
|
|
rs1251096255 CA370493303 |
443 | Y>N | No |
ClinGen TOPMed |
|
|
CA370493328 rs1314429309 |
445 | H>Y | No |
ClinGen TOPMed |
|
|
CA370493371 rs1299770323 |
448 | S>L | No |
ClinGen TOPMed |
|
|
CA173465538 rs149489580 |
449 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4664643 rs376026057 |
450 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759345444 CA370493463 |
456 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759345444 CA4664647 |
456 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664646 rs370838376 |
456 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664648 rs767262723 |
458 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA370493475 rs767262723 |
458 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA173465550 rs1027468417 |
459 | K>E | No |
ClinGen Ensembl |
|
|
CA370493488 rs1027468417 |
459 | K>Q | No |
ClinGen Ensembl |
|
|
CA370493493 rs1393877677 |
459 | K>R | No |
ClinGen gnomAD |
|
|
CA4664650 rs561063512 |
464 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs752931211 CA4664649 |
464 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777853681 CA4664651 |
465 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753974583 CA4664652 |
468 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1004770998 CA173465565 |
470 | G>C | No |
ClinGen Ensembl |
|
|
CA370493603 rs779585319 |
471 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664656 rs148614326 |
472 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370493627 CA173465572 rs373883675 |
473 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1098051 COSM1597630 rs373883675 CA4664657 |
473 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370493695 rs1488741825 |
478 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769344023 CA4664659 |
478 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664660 rs772641740 |
479 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772641740 CA4664661 |
479 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664664 rs774247127 |
480 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774247127 CA4664663 |
480 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770801315 CA4664662 |
480 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370493758 rs1290264362 |
481 | E>G | No |
ClinGen TOPMed |
|
|
rs1336169632 CA370493841 |
482 | I>T | No |
ClinGen gnomAD |
|
|
rs760413911 CA4664684 |
484 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4664685 rs372149080 |
484 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173465653 rs760413911 |
484 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs762194330 CA4664687 |
486 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370493951 rs1181136650 |
489 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA370493954 rs1181136650 |
489 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142036584 CA4664690 |
491 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370493997 rs1473581708 |
492 | Y>S | No |
ClinGen gnomAD |
|
|
CA4664691 rs200653366 |
496 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664693 rs755275447 |
496 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4664692 rs200653366 |
496 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146182213 COSM296395 CA4664694 |
497 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1310319424 CA370494093 |
498 | G>R | No |
ClinGen gnomAD |
|
|
rs1055829815 CA173465671 |
499 | H>D | No |
ClinGen Ensembl |
|
|
rs1341984154 CA370494131 |
500 | S>R | No |
ClinGen gnomAD |
|
|
rs756958872 CA4664696 |
501 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA370494165 rs1586461068 |
502 | S>G | No |
ClinGen Ensembl |
|
|
CA4664697 rs778329734 |
502 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1450422249 CA370494180 |
503 | S>G | No |
ClinGen TOPMed |
|
|
CA4664700 rs775268179 |
504 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4664699 rs771997840 |
504 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664701 rs199671021 |
506 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370494264 rs768570264 |
507 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762071697 CA4664704 |
508 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773299442 CA4664706 |
510 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476608967 CA370494362 |
512 | Y>C | No |
ClinGen gnomAD |
|
|
CA370494361 rs1476608967 |
512 | Y>S | No |
ClinGen gnomAD |
|
|
rs1172233828 CA370494409 |
515 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370494410 rs1172233828 |
515 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370494458 rs1331242183 |
518 | I>V | No |
ClinGen TOPMed |
|
|
CA4664707 rs201713013 |
521 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200179324 CA4664710 |
524 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767852826 CA4664711 |
524 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664712 rs753066886 |
526 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144492922 CA173465710 |
528 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA370494720 rs374125185 |
530 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374125185 CA4664714 |
530 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4664715 rs376987596 |
531 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370494732 rs376987596 |
531 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664717 rs146615409 CA370494777 |
533 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs901779256 CA173465723 |
534 | S>Y | No |
ClinGen Ensembl |
|
|
rs1487107459 CA370494818 |
535 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4664718 rs746910074 |
538 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433687404 CA370494951 |
539 | G>C | No |
ClinGen TOPMed |
|
|
rs753963317 COSM1597626 CA370495031 COSM1098055 |
542 | V>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664724 rs773280061 |
543 | N>K | No |
ClinGen ExAC |
|
|
COSM183114 CA4664722 rs770089271 |
543 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1435211390 CA370495087 |
544 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763276506 CA4664725 |
545 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs764357220 CA4664750 |
547 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664753 rs762449236 |
549 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173465954 rs991703089 |
550 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 551 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751062082 CA370495550 |
553 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664754 rs751062082 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370495547 rs1274561524 |
553 | R>W | No |
ClinGen gnomAD |
|
|
rs1198009348 CA370495612 |
555 | N>I | No |
ClinGen gnomAD |
|
|
rs754511787 CA4664755 |
556 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664756 rs536037865 |
556 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370495616 rs754511787 |
556 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664758 COSM3698707 COSM3698708 rs756176995 |
557 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA370495664 rs1167149114 |
558 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs554797619 CA4664762 |
562 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403097061 CA370495873 |
566 | T>I | No |
ClinGen gnomAD |
|
|
rs747693097 CA173465981 |
567 | L>P | No |
ClinGen Ensembl |
|
|
rs1009715821 CA173465979 |
567 | L>V | No |
ClinGen TOPMed |
|
|
rs1237133049 CA370495911 |
568 | G>D | No |
ClinGen TOPMed |
|
|
CA370495978 rs772135700 |
570 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664764 rs772135700 |
570 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370495989 rs1226299576 |
571 | K>Q | No |
ClinGen gnomAD |
|
|
rs1255528790 CA370496192 |
579 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769213156 CA4664767 |
580 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4664769 rs762258283 |
582 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4664768 rs566435924 |
582 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664771 rs765566579 |
583 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664772 rs759325498 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs370064009 CA4664773 |
585 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664774 rs533843342 |
586 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755936351 CA4664775 |
586 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664776 rs755936351 |
586 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533843342 CA173466006 |
586 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370496288 rs1357859072 |
587 | C>R | No |
ClinGen gnomAD |
|
|
rs984041092 CA173466018 |
587 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313809567 CA370496328 |
589 | A>T | No |
ClinGen gnomAD |
|
|
CA370497513 rs1270747282 |
590 | A>T | No |
ClinGen TOPMed |
|
|
CA370497603 rs1373586314 |
593 | G>R | No |
ClinGen gnomAD |
|
|
rs747834912 CA4664851 |
595 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA370497650 rs1465423554 |
595 | L>I | No |
ClinGen gnomAD |
|
|
CA4664854 rs576239807 |
597 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1264696881 CA370497721 |
598 | L>F | No |
ClinGen TOPMed |
|
|
rs1221276096 CA370497749 |
598 | L>R | No |
ClinGen TOPMed |
|
|
rs770858434 CA4664855 |
599 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs371549770 CA4664857 |
600 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370497880 rs374534506 |
602 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664860 rs775572627 |
603 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775572627 CA4664859 |
603 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370497958 rs1586463544 |
604 | S>R | No |
ClinGen Ensembl |
|
|
CA370498057 rs1282975443 |
606 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4664863 rs757803172 |
609 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370498283 rs1586463564 |
611 | Y>S | No |
ClinGen Ensembl |
|
|
rs1424662279 CA370498352 |
612 | P>S | No |
ClinGen TOPMed |
|
|
rs367784476 CA370498403 |
613 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374904129 CA173466513 |
613 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664867 rs374904129 |
613 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374904129 CA173466515 |
613 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4664866 rs367784476 |
613 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432542520 CA370498449 |
614 | N>K | No |
ClinGen gnomAD |
|
| rs758822270 | 614 | N>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758822270 | 614 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017223294 CA173466522 |
615 | K>E | No |
ClinGen TOPMed |
|
|
rs935362770 CA173466528 |
618 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA173466531 rs1052515437 |
619 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 620 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972869168 CA173466536 |
621 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA173466538 rs199532380 |
622 | V>L | No |
ClinGen Ensembl |
|
|
CA370498687 rs1157771965 |
625 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1343660145 CA370498787 |
628 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1597625 CA4664872 rs755773074 COSM1098056 |
628 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755773074 CA4664871 |
628 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370498777 rs1343660145 |
628 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370498865 rs1439390692 |
632 | Q>H | No |
ClinGen gnomAD |
|
|
rs778691967 CA4664875 |
633 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200735445 CA4664877 |
635 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370499057 rs775440656 |
639 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4664879 rs760914203 |
640 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs776807068 CA4664881 |
641 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1445858059 CA370499154 |
642 | D>G | No |
ClinGen TOPMed |
|
|
rs1586464119 CA370499401 |
643 | V>G | No |
ClinGen Ensembl |
|
|
CA370499380 rs1231002424 |
643 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1257093673 CA370499502 |
647 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1167229119 CA370499575 |
649 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4664905 rs752066503 COSM1098058 COSM1597623 |
652 | R>C | endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4664906 rs372901134 |
652 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753484264 CA4664907 |
655 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA370499691 rs1443366206 |
655 | L>P | No |
ClinGen gnomAD |
|
|
rs1161026608 CA370499722 |
657 | A>D | No |
ClinGen TOPMed |
|
|
rs555814700 CA4664909 |
657 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs988418972 CA173466755 |
659 | S>C | No |
ClinGen TOPMed |
|
|
CA370499769 rs1412488902 |
661 | L>M | No |
ClinGen gnomAD |
|
|
rs1294649375 CA370499785 |
662 | H>R | No |
ClinGen gnomAD |
|
|
CA370499805 rs1213984658 |
664 | K>Q | No |
ClinGen gnomAD |
|
|
CA4664910 rs749982773 |
667 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145735409 CA173466759 |
672 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs780119875 CA4664912 |
673 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370499999 rs1190296697 |
678 | Y>C | No |
ClinGen gnomAD |
|
|
CA370500013 rs1258091849 |
679 | N>S | No |
ClinGen TOPMed |
|
|
rs963790797 CA173466765 |
680 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370500049 rs868533607 CA173466773 |
681 | M>I | No |
ClinGen gnomAD |
|
|
rs1475121734 CA370500041 |
681 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs148953483 CA173466776 |
682 | R>C | No |
ClinGen ESP gnomAD |
|
|
rs781187309 CA4664915 |
683 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781187309 CA4664916 |
683 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1432524339 CA370500115 |
687 | S>T | No |
ClinGen gnomAD |
|
|
rs574078395 CA4664918 |
688 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4664919 rs749406302 |
689 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4664922 rs200401797 |
691 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs775928083 CA370500189 |
693 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775928083 CA4664924 |
693 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191642479 CA4664925 |
693 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1382417278 CA370500217 |
694 | K>N | No |
ClinGen TOPMed |
|
|
rs1362009817 CA370500270 |
698 | A>T | No |
ClinGen TOPMed |
|
|
CA4664926 rs1232985403 |
699 | H>L | No |
ClinGen gnomAD |
|
|
rs1300464804 CA370500302 |
699 | H>Y | No |
ClinGen TOPMed |
|
|
rs61729094 CA173469327 |
705 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4665126 rs759922615 |
706 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4665127 rs772384374 |
707 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA370504406 rs1397190232 |
707 | C>R | No |
ClinGen gnomAD |
|
|
CA4665128 rs776332793 |
708 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761384368 CA4665129 |
709 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749982278 CA4665131 |
710 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1232041020 CA370504515 |
710 | D>V | No |
ClinGen gnomAD |
|
|
CA370504552 rs1586469738 |
711 | N>T | No |
ClinGen Ensembl |
|
|
CA370504614 rs1463454887 |
713 | G>A | No |
ClinGen gnomAD |
|
|
CA370504609 rs1463454887 |
713 | G>D | No |
ClinGen gnomAD |
|
|
CA4665135 rs148687489 |
713 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370504681 rs1586469766 |
716 | Q>K | No |
ClinGen Ensembl |
|
|
CA370504715 rs1221871512 |
717 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs61729095 CA370504763 |
718 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11996036 CA173469371 |
719 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs570238240 CA4665140 |
721 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370504839 rs777793027 |
721 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4665139 rs777793027 |
721 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 723 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371330807 CA4665143 |
723 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370504958 rs1262199511 |
725 | Y>F | No |
ClinGen TOPMed |
|
|
rs775721839 CA4665145 |
726 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1298765144 CA370505116 |
730 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs374344275 CA4665147 |
730 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374344275 CA4665148 |
730 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762517413 CA370505156 |
731 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431122267 CA370505160 |
731 | S>N | No |
ClinGen gnomAD |
|
|
rs762517413 CA4665149 |
731 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665150 rs766049081 |
731 | S>R | No |
ClinGen ExAC |
|
|
CA370505165 rs1266881770 |
732 | G>S | No |
ClinGen gnomAD |
|
|
rs148552467 CA4665152 |
734 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370505218 rs1268598296 |
735 | L>F | No |
ClinGen gnomAD |
|
|
CA370505248 rs1336419765 |
736 | H>R | No |
ClinGen TOPMed |
|
|
rs1433937584 CA370505352 |
740 | H>P | No |
ClinGen gnomAD |
|
|
rs1269741917 CA370505347 |
740 | H>Y | No |
ClinGen gnomAD |
|
|
CA4665156 rs756280771 |
741 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367849370 CA4665181 |
745 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA173473819 rs868091508 |
746 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4665182 rs747614043 |
746 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370507421 rs1236951188 |
747 | C>R | No |
ClinGen gnomAD |
|
|
CA370507432 rs1413741861 |
747 | C>Y | No |
ClinGen TOPMed |
|
|
rs755377986 CA370507495 |
748 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA370507505 rs1179546962 |
749 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482304346 CA370507546 |
751 | V>E | No |
ClinGen TOPMed |
|
|
rs781703594 CA4665184 |
751 | V>L | No |
ClinGen ExAC |
|
|
rs375728779 CA4665186 |
752 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773865205 CA4665188 |
753 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1586474123 CA370507606 |
754 | T>P | No |
ClinGen Ensembl |
|
|
CA370507637 rs1431200793 |
755 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 756 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4665189 rs745349452 |
758 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370507703 COSM77341 rs1445810351 |
759 | T>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA370507705 rs1445810351 |
759 | T>S | No |
ClinGen gnomAD |
|
|
rs1563279975 CA370507738 |
761 | P>L | No |
ClinGen Ensembl |
|
|
CA370507734 rs1304529794 |
761 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1586474164 CA370507799 |
763 | W>C | No |
ClinGen Ensembl |
|
|
rs771652666 CA4665190 |
765 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4665191 rs200128133 |
766 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290485843 CA370507861 |
767 | Y>H | No |
ClinGen TOPMed |
|
|
CA370507965 rs1278082475 |
771 | K>E | No |
ClinGen gnomAD |
|
|
CA4665194 rs776440411 |
772 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4665195 rs199898566 |
773 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA173473856 rs755433726 |
775 | W>* | No |
ClinGen gnomAD |
|
|
CA4665199 rs766534910 |
779 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs752059486 CA4665200 |
780 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665201 rs752059486 |
780 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586474214 CA370508189 |
780 | T>P | No |
ClinGen Ensembl |
|
|
rs1347963708 CA370508280 |
782 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753137138 CA4665203 |
782 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472054511 CA370508331 |
783 | H>N | No |
ClinGen TOPMed |
|
|
CA4665205 rs778401518 |
784 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202128760 CA173473866 COSM1456074 |
784 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
CA370508431 rs771470158 |
785 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4665207 rs771470158 |
785 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs745600775 CA4665206 |
785 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs745600775 CA370508426 |
785 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370508469 rs1436163504 |
786 | K>N | No |
ClinGen gnomAD |
|
|
CA173474023 rs745637021 |
790 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665226 rs377726412 |
790 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745637021 CA4665227 |
790 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665229 rs200844063 |
792 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768191921 CA4665228 |
792 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748170130 CA4665230 |
794 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773067475 CA4665232 |
795 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773067475 CA370509009 |
795 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303996574 CA370509102 |
797 | Q>K | No |
ClinGen gnomAD |
|
|
rs763050546 CA4665233 |
798 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4665234 rs771209077 |
801 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665237 rs370443075 |
803 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4665236 rs759658774 |
803 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370509445 rs1358887996 |
806 | E>G | No |
ClinGen gnomAD |
|
|
CA4665238 COSM1283662 rs776127473 |
808 | F>L | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1292054506 CA370509487 |
808 | F>S | No |
ClinGen gnomAD |
|
|
COSM3699023 rs200556837 CA4665240 |
809 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs898240891 CA173474089 |
811 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4665243 rs151245981 |
811 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370509651 rs1163940645 |
812 | D>N | No |
ClinGen gnomAD |
|
|
CA4665248 rs140902180 |
813 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1396014404 CA370509716 |
814 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756111914 CA4665249 |
814 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777387304 CA4665250 |
815 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs370543669 CA4665251 |
815 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150161793 CA4665253 |
816 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4665255 rs772221372 |
816 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs150161793 CA4665254 |
816 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4665257 rs543117827 |
817 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4665259 rs777042213 |
818 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200936548 CA4665261 |
819 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs541312892 CA4665262 |
820 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1247153531 CA370509885 |
820 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs541312892 CA4665263 |
820 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370509980 rs1373798293 |
824 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370509982 rs1373798293 |
824 | S>T | No |
ClinGen gnomAD |
|
|
CA4665264 rs766977410 |
826 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4665265 rs775313530 |
826 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755631081 CA4665266 |
828 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4665267 rs777738785 |
829 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4665268 rs777738785 |
829 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4665272 rs140324769 |
830 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231919344 CA370510111 |
832 | A>V | No |
ClinGen gnomAD |
|
|
CA173474149 rs780832591 |
833 | T>I | No |
ClinGen gnomAD |
|
|
CA4665275 rs768684119 |
834 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1586474844 CA370510129 |
835 | S>R | No |
ClinGen Ensembl |
|
|
CA4665276 COSM1246140 rs202166852 |
836 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4665277 rs762317805 |
836 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370510133 rs762317805 |
836 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1190191317 CA370510145 |
838 | F>L | No |
ClinGen gnomAD |
|
|
CA370510150 rs1262729930 |
838 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1321303858 CA370510152 |
839 | L>V | No |
ClinGen TOPMed |
|
|
CA4665279 rs773595573 |
840 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665280 rs145359380 |
840 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752336261 CA4665282 |
846 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752336261 CA4665283 |
846 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757267575 CA370510216 |
849 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757267575 CA4665286 |
849 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665287 rs201664686 |
849 | R>Q | Variant assessed as Somatic; 0.0006009 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750219545 CA4665288 |
850 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs535986716 CA370510269 |
857 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs535986716 CA4665290 |
857 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1326937971 CA370510274 |
858 | T>A | No |
ClinGen gnomAD |
|
|
CA4665318 rs774583262 COSM1098064 |
861 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4665320 rs137965451 |
862 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746634889 CA4665319 |
862 | G>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000382990 CA10606902 rs886044554 |
864 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA173475046 rs142443043 |
865 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4665322 rs749954119 COSM1098065 |
865 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4665324 rs773221875 |
866 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665325 rs567441758 |
867 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370511062 rs565676939 |
868 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4665327 rs565676939 |
868 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244098611 CA370511139 |
873 | L>F | No |
ClinGen gnomAD |
|
|
rs762615008 CA173475076 |
875 | S>F | No |
ClinGen Ensembl |
|
|
rs767606234 CA4665329 |
877 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411161118 CA370511218 |
877 | A>V | No |
ClinGen gnomAD |
|
|
rs1327762587 CA370511254 |
880 | G>D | No |
ClinGen TOPMed |
|
|
rs777844397 CA4665332 |
881 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201117241 CA4665334 |
883 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383237504 CA370511347 |
885 | P>A | No |
ClinGen gnomAD |
|
|
rs1383237504 CA370511346 |
885 | P>S | No |
ClinGen gnomAD |
|
|
rs779288525 CA4665335 |
886 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 887 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370511504 rs1388656728 |
892 | W>C | No |
ClinGen TOPMed |
|
|
CA4665339 rs747815404 |
897 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767379182 CA173475112 |
899 | G>S | No |
ClinGen gnomAD |
|
|
rs769359150 CA4665340 |
901 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4665342 rs150895148 |
902 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 903 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370511680 rs1201483704 |
903 | E>G | No |
ClinGen TOPMed |
|
|
rs766202456 CA4665343 |
904 | L>P | No |
ClinGen ExAC |
|
|
CA370511710 rs1423849104 |
905 | V>A | No |
ClinGen gnomAD |
|
|
CA4665344 RCV000658306 rs774390712 |
905 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554488374 RCV000592516 CA370511724 |
906 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA370511901 rs1586477015 |
915 | T>P | No |
ClinGen Ensembl |
|
|
rs764118980 CA4665349 |
916 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753887737 CA4665350 |
917 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs758631616 CA4665354 |
918 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4665353 rs143943297 |
918 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758631616 CA370511962 |
918 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4665352 rs143943297 |
918 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370511974 rs1365565242 |
919 | Y>C | No |
ClinGen gnomAD |
|
|
CA4665355 rs780567195 |
924 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747758242 CA4665356 |
925 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA173475160 rs541869451 |
925 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226996485 CA370512075 |
925 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777614693 CA173475171 |
926 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs777614693 CA4665358 |
926 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4665360 rs147298430 |
927 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA370512116 rs1489639154 |
928 | Y>H | No |
ClinGen gnomAD |
|
|
CA370512150 rs1472213849 |
929 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs571276543 CA4665362 |
929 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771788477 CA4665363 |
930 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA370512186 rs1409887195 |
931 | T>R | No |
ClinGen gnomAD |
|
|
rs775295740 CA4665364 |
932 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4665365 rs760839779 |
934 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764280240 CA4665366 |
936 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4665367 rs754153921 |
937 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1408532122 CA370512246 |
937 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1408532122 CA370512244 |
937 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1477018482 CA370512281 |
940 | G>V | No |
ClinGen TOPMed |
|
|
CA4665368 rs761784869 |
941 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA173475212 rs913478686 |
942 | G>E | No |
ClinGen TOPMed |
|
|
CA370512295 rs1351863198 |
942 | G>R | No |
ClinGen gnomAD |
|
|
CA370512752 rs1487018018 |
946 | E>D | No |
ClinGen Ensembl |
|
|
rs528338281 CA4665395 |
947 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA370512760 rs1397890420 |
948 | Y>H | No |
ClinGen gnomAD |
|
|
CA4665396 rs753370238 |
949 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370512778 rs1408743272 |
950 | A>V | No |
ClinGen gnomAD |
|
|
CA370512805 rs1315320494 |
953 | S>F | No |
ClinGen gnomAD |
|
|
CA370512812 rs1224639646 |
954 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757945895 CA4665400 |
954 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4665401 rs779951286 |
957 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746961748 CA4665402 |
958 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1233141779 CA370512860 |
959 | H>R | No |
ClinGen TOPMed |
|
|
rs768372045 CA4665403 |
960 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA370512879 rs1297749483 |
961 | D>H | No |
ClinGen TOPMed |
|
|
rs748265090 CA4665405 |
967 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA173476080 rs770031594 |
968 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770031594 CA4665406 |
968 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs964719937 | 968 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773343328 COSM183122 CA4665407 |
972 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs915481416 CA173476091 |
972 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370513018 rs1164131029 |
974 | T>A | No |
ClinGen TOPMed |
|
|
rs1195464702 CA370513066 |
978 | F>C | No |
ClinGen gnomAD |
|
|
CA173476093 rs62494058 |
979 | Q>H | No |
ClinGen Ensembl |
|
|
CA173476096 rs149794757 |
980 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1373717135 CA370513084 |
980 | D>Y | No |
ClinGen gnomAD |
|
|
CA4665409 rs766627035 |
981 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4665410 rs774943531 |
981 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA370513121 rs1284704574 |
983 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 987 | K>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P13497
[MIM: 614856]: Osteogenesis imperfecta 13 (OI13)
An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269|PubMed:22052668, ECO:0000269|PubMed:22482805, ECO:0000269|PubMed:25402547}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269|PubMed:22052668, ECO:0000269|PubMed:22482805, ECO:0000269|PubMed:25402547}. Note=The disease is caused by variants affecting the gene represented in this entry.
15 regional properties for P13497
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| ptm | EGF-type aspartate/asparagine hydroxylation site | 563 - 574 | IPR000152 |
| domain | EGF-like domain | 547 - 588 | IPR000742-1 |
| domain | EGF-like domain | 706 - 743 | IPR000742-2 |
| domain | CUB domain | 322 - 434 | IPR000859-1 |
| domain | CUB domain | 435 - 547 | IPR000859-2 |
| domain | CUB domain | 591 - 703 | IPR000859-3 |
| domain | CUB domain | 747 - 859 | IPR000859-4 |
| domain | CUB domain | 860 - 976 | IPR000859-5 |
| domain | Peptidase M12A | 121 - 320 | IPR001506 |
| domain | EGF-like calcium-binding domain | 547 - 588 | IPR001881-1 |
| domain | EGF-like calcium-binding domain | 703 - 743 | IPR001881-2 |
| domain | Peptidase, metallopeptidase | 126 - 268 | IPR006026 |
| conserved_site | EGF-like calcium-binding, conserved site | 547 - 572 | IPR018097-1 |
| conserved_site | EGF-like calcium-binding, conserved site | 703 - 727 | IPR018097-2 |
| domain | Tolloid/BMP1 peptidase domain | 121 - 320 | IPR034036 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.24.19 | Metalloendopeptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| cytokine activity | The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells. |
| growth factor activity | The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. |
| identical protein binding | Binding to an identical protein or proteins. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| peptidase activity | Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. |
| serine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
| zinc ion binding | Binding to a zinc ion (Zn). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cartilage condensation | The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| dorsal/ventral pattern formation | The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| positive regulation of cartilage development | Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| skeletal system development | The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9DER7 | TLL1 | Tolloid-like protein 1 | Gallus gallus (Chicken) | PR |
| P25723 | tld | Dorsal-ventral patterning protein tolloid | Drosophila melanogaster (Fruit fly) | PR |
| P98066 | TNFAIP6 | Tumor necrosis factor-inducible gene 6 protein | Homo sapiens (Human) | PR |
| Q9Y6L7 | TLL2 | Tolloid-like protein 2 | Homo sapiens (Human) | PR |
| O43897 | TLL1 | Tolloid-like protein 1 | Homo sapiens (Human) | PR |
| Q6HA09 | Astl | Astacin-like metalloendopeptidase | Mus musculus (Mouse) | PR |
| O08859 | Tnfaip6 | Tumor necrosis factor-inducible gene 6 protein | Mus musculus (Mouse) | PR |
| Q62381 | Tll1 | Tolloid-like protein 1 | Mus musculus (Mouse) | PR |
| Q9WVM6 | Tll2 | Tolloid-like protein 2 | Mus musculus (Mouse) | PR |
| P98063 | Bmp1 | Bone morphogenetic protein 1 | Mus musculus (Mouse) | PR |
| Q9U3S9 | nas-6 | Zinc metalloproteinase nas-6 | Caenorhabditis elegans | PR |
| P55112 | nas-4 | Zinc metalloproteinase nas-4 | Caenorhabditis elegans | PR |
| P55113 | nas-7 | Zinc metalloproteinase nas-7 | Caenorhabditis elegans | PR |
| Q18439 | nas-8 | Zinc metalloproteinase nas-8 | Caenorhabditis elegans | PR |
| Q20942 | nas-38 | Zinc metalloproteinase nas-38 | Caenorhabditis elegans | PR |
| Q21252 | nas-3 | Zinc metalloproteinase nas-3 | Caenorhabditis elegans | PR |
| P55115 | nas-15 | Zinc metalloproteinase nas-15 | Caenorhabditis elegans | PR |
| Q20176 | nas-39 | Zinc metalloproteinase nas-39 | Caenorhabditis elegans | PR |
| O57460 | tll1 | Dorsal-ventral patterning tolloid-like protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGVARLPLL | LGLLLLPRPG | RPLDLADYTY | DLAEEDDSEP | LNYKDPCKAA | AFLGDIALDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDLRAFQVQQ | AVDLRRHTAR | KSSIKAAVPG | NTSTPSCQST | NGQPQRGACG | RWRGRSRSRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AATSRPERVW | PDGVIPFVIG | GNFTGSQRAV | FRQAMRHWEK | HTCVTFLERT | DEDSYIVFTY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPCGCCSYVG | RRGGGPQAIS | IGKNCDKFGI | VVHELGHVVG | FWHEHTRPDR | DRHVSIVREN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IQPGQEYNFL | KMEPQEVESL | GETYDFDSIM | HYARNTFSRG | IFLDTIVPKY | EVNGVKPPIG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRTRLSKGDI | AQARKLYKCP | ACGETLQDST | GNFSSPEYPN | GYSAHMHCVW | RISVTPGEKI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ILNFTSLDLY | RSRLCWYDYV | EVRDGFWRKA | PLRGRFCGSK | LPEPIVSTDS | RLWVEFRSSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NWVGKGFFAV | YEAICGGDVK | KDYGHIQSPN | YPDDYRPSKV | CIWRIQVSEG | FHVGLTFQSF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIERHDSCAY | DYLEVRDGHS | ESSTLIGRYC | GYEKPDDIKS | TSSRLWLKFV | SDGSINKAGF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AVNFFKEVDE | CSRPNRGGCE | QRCLNTLGSY | KCSCDPGYEL | APDKRRCEAA | CGGFLTKLNG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SITSPGWPKE | YPPNKNCIWQ | LVAPTQYRIS | LQFDFFETEG | NDVCKYDFVE | VRSGLTADSK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LHGKFCGSEK | PEVITSQYNN | MRVEFKSDNT | VSKKGFKAHF | FSDKDECSKD | NGGCQQDCVN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TFGSYECQCR | SGFVLHDNKH | DCKEAGCDHK | VTSTSGTITS | PNWPDKYPSK | KECTWAISST |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PGHRVKLTFM | EMDIESQPEC | AYDHLEVFDG | RDAKAPVLGR | FCGSKKPEPV | LATGSRMFLR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FYSDNSVQRK | GFQASHATEC | GGQVRADVKT | KDLYSHAQFG | DNNYPGGVDC | EWVIVAEEGY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GVELVFQTFE | VEEETDCGYD | YMELFDGYDS | TAPRLGRYCG | SGPPEEVYSA | GDSVLVKFHS |
| 970 | 980 | ||||
| DDTITKKGFH | LRYTSTKFQD | TLHSRK |