AiPD: Autoinhibited Protein Database

Q14669

Gene name	TRIP12 (KIAA0045, ULF)
Protein name	E3 ubiquitin-protein ligase TRIP12
Names	E3 ubiquitin-protein ligase for Arf, ULF, HECT-type E3 ubiquitin transferase TRIP12, Thyroid receptor-interacting protein 12, TR-interacting protein 12, TRIP-12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9320
EC number	2.3.2.26: Aminoacyltransferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

47-116 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

47-116 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

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

Autoinhibited structure

Activated structure

2 structures for Q14669

Entry ID	Method	Resolution	Chain	Position	Source
7UW7	X-ray	117 A	A	755-806	PDB
AF-Q14669-F1	Predicted				AlphaFoldDB

1142 variants for Q14669

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_080431 rs1300458163 CA350909333	5	P>L	CLABARS; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs2060137211 RCV001266269	39	S>Y	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs2060119917 RCV001293635	92	P>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553704696 RCV000624076	120	Q>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1553704327 RCV000515143	154	S>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
CA2153471 RCV001329829 rs780999801	193	I>V	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA174470 RCV000149157 COSM1178252 rs193921087	242	P>T	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA66715443 RCV000987053 rs986636922	286	E>A	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs779389307 RCV001329830 CA2153410	288	S>L	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001197332 rs2056267716	304	K>R	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_080432	338	R>del	CLABARS; unknown pathological significance [UniProt]	Yes	UniProt
CA2153342 RCV003166399 rs141163529 RCV001230223	352	R>Q	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_080433	352	R>del	CLABARS; unknown pathological significance [UniProt]	Yes	UniProt
rs200117340 CA2153338 RCV000622280	372	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001260842 rs2053141794	398	E>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001195836 rs771031325	413	P>T	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001256060 rs2049053255	448	A>T	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001262934 RCV000578894 rs1553636520 CA350922484	503	R>*	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350922306 COSM3048082 RCV001003473 rs1575419803	514	R>*	Clark-Baraitser syndrome breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001195808 CA2153119 rs772399122	632	N>D	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA350919684 RCV001291782 rs1305168076	643	V>F	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_080434 CA2153013 rs373429636	761	A>V	Variant assessed as Somatic; 0.0 impact. CLABARS [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201776333 RCV001266586 CA2152957	805	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001260813 CA350912888 rs1195592039	820	R>*	Intellectual disability Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA350909886 RCV000987052 rs1575203936	981	Q>*	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553620494 RCV000515149	994	G>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001078142 CA350909217 rs1575161164 RCV001008698	995	R>*	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2043184881 RCV001266989 RCV001268352 RCV003128566 RCV002471071	1089	I>missing	Clark-Baraitser syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs2043168875 RCV001260846	1121	Q>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001731740 rs1553614300 RCV000515144	1148	V>*	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001252975 rs1268798250	1183	E>D	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001095645 rs2042881907	1195	S>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
rs764732335 RCV001333208 COSM1614490 CA2152661	1204	I>V	liver Clark-Baraitser syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1553610329 RCV000624442	1254	G>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs2041937196 RCV001260790	1277	A>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA350900418 rs1157793506 RCV001333209	1343	R>K	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2041642562 RCV001197191	1382	N>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_080435	1449	P>del	CLABARS [UniProt]	Yes	UniProt
VAR_080436	1557	D>H	CLABARS [UniProt]	Yes	UniProt
CA350892810 RCV001268857 rs1574994308 RCV001003578	1560	R>*	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA350892120 rs1468657712 RCV000987051	1587	D>E	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA350890921 RCV000515140 rs1553602821 VAR_080437 COSM1306517	1595	R>Q	Variant assessed as Somatic; impact. urinary_tract Clark-Baraitser syndrome CLABARS [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1553591922 RCV000622295	1656	T>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1428800056 CA350887340 RCV001329827	1695	M>V	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001333210 rs2036612429	1735	S>L	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001329828 rs2036605188	1746	A>missing	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
rs866079762 COSM1017529 VAR_080438 CA66673313	1840	S>L	Variant assessed as Somatic; impact. endometrium CLABARS [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP
RCV000987050 CA350882854 rs1574632490	1937	T>A	Clark-Baraitser syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001264741 rs2032214426	1966	P>L	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001253031 rs1387893497	1987	Q>*	Clark-Baraitser syndrome [ClinVar]	Yes	ClinVar dbSNP
rs746096308 CA350909345	3	N>I		No	ClinGen ExAC TOPMed gnomAD
CA350909344 rs1338060192	3	N>K		No	ClinGen gnomAD
rs746096308 CA2153608	3	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746096308 CA350909346	3	N>T		No	ClinGen ExAC TOPMed gnomAD
rs781467200 CA2153607	4	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs537576478 CA2153604	9	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs747910215 CA2153605	9	P>S		No	ClinGen ExAC gnomAD
CA2153602 rs765441004	10	G>R		No	ClinGen ExAC gnomAD
CA66728251 rs920732823	11	G>R		No	ClinGen Ensembl
rs1331502576 CA350909281	14	R>Q		No	ClinGen gnomAD
TCGA novel	21	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2153599 rs200837058	22	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2153598 rs767166221	22	G>V		No	ClinGen ExAC gnomAD
CA350909219 rs1280959205	23	A>T		No	ClinGen TOPMed
rs1560081878 CA350909212	23	A>V		No	ClinGen Ensembl
rs1379853938 CA350909191	25	P>S		No	ClinGen TOPMed
CA66728224 rs1046355070	26	Q>H		No	ClinGen TOPMed gnomAD
CA350909169 rs1191926555	26	Q>R		No	ClinGen gnomAD
CA350909132 rs1238833588	27	D>E		No	ClinGen gnomAD
TCGA novel	27	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2153597 rs201878374	28	D>N	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs201878374 CA2153596	28	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1576556074 CA350909073	30	I>T		No	ClinGen Ensembl
CA2153595 rs764515629	30	I>V		No	ClinGen ExAC gnomAD
CA66728218 rs949244662	32	G>R		No	ClinGen TOPMed gnomAD
CA350909031 rs1361492943	33	R>G		No	ClinGen TOPMed
rs1394373769 CA350900452	34	S>N		No	ClinGen gnomAD
rs776698358 CA2153544	36	S>C		No	ClinGen ExAC TOPMed gnomAD
CA66716275 rs897987028	37	S>L		No	ClinGen Ensembl
CA66716246 rs941750882	41	V>L		No	ClinGen TOPMed
CA2153540 rs373990630	42	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373990630 CA350900145	42	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2153539 rs747686065	43	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2153538 rs779345774	44	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1306666591 CA350900062	44	P>L		No	ClinGen TOPMed gnomAD
rs1306666591 CA350900055	44	P>R		No	ClinGen TOPMed gnomAD
rs755281314 CA2153537	46	P>A		No	ClinGen ExAC TOPMed gnomAD
CA350900007 rs755281314	46	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755281314 CA350900008	46	P>T		No	ClinGen ExAC TOPMed gnomAD
rs780507387 CA2153535	48	D>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2153534 rs756235505	50	D>E		No	ClinGen ExAC gnomAD
CA350899806 rs1229140883	53	N>D		No	ClinGen TOPMed
rs750522919 CA2153533	53	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767543553 CA2153532	54	T>I		No	ClinGen ExAC gnomAD
rs1296912870 CA350899750	55	S>A		No	ClinGen gnomAD
CA2153531 rs369697336	56	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576196396 CA350899674	57	R>G		No	ClinGen Ensembl
rs765138585 CA2153530	58	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1559922177 CA350899602	59	K>R		No	ClinGen Ensembl
TCGA novel	60	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	60	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775800918 CA66716190	63	V>L		No	ClinGen TOPMed
rs760642641 CA2153525	64	P>R		No	ClinGen ExAC gnomAD
rs928326604 CA66716168	66	K>Q		No	ClinGen Ensembl
rs1192638093 CA350899404	67	D>E		No	ClinGen TOPMed gnomAD
rs772882161 CA2153524	68	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2153523 rs771422874	70	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1017551 rs1480289884 CA350899251	74	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2153522 rs747889619	74	R>L		No	ClinGen ExAC gnomAD
rs1240067317 CA350899142	77	S>N		No	ClinGen gnomAD
rs1240067317 CA350899138	77	S>T		No	ClinGen gnomAD
rs1318758254 CA350899128	78	P>S		No	ClinGen gnomAD
CA66716161 rs1009514050	79	D>N		No	ClinGen TOPMed
rs769100717 CA2153520	80	Y>C		No	ClinGen ExAC gnomAD
rs1397146202 CA350898946	82	R>G		No	ClinGen TOPMed
TCGA novel	84	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2153518 rs148961677	84	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA66716156 rs914408391	85	S>F		No	ClinGen Ensembl
rs1413264148 CA350898855	85	S>P		No	ClinGen gnomAD
rs1413264148 CA350898859	85	S>T		No	ClinGen gnomAD
rs1375231368 CA350898820	86	P>A		No	ClinGen gnomAD
rs1375231368 CA350898818	86	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1171600139 CA350898754	88	S>P		No	ClinGen gnomAD
TCGA novel	89	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254958158 CA350898721	89	A>V		No	ClinGen gnomAD
rs1358409545 CA350898618	92	P>L		No	ClinGen TOPMed
rs1358409545 CA350898621	92	P>R		No	ClinGen TOPMed
CA350898586 rs1205180282	94	A>T		No	ClinGen gnomAD
rs746308526 CA350898575	95	L>I		No	ClinGen ExAC gnomAD
rs746308526 CA2153516	95	L>V		No	ClinGen ExAC gnomAD
CA2153515 rs200744043	97	H>R		No	ClinGen ExAC gnomAD
CA350898532 rs1317511034	97	H>Y		No	ClinGen TOPMed
CA2153513 rs532583604	98	T>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	98	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2153514 rs532583604	98	T>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	102	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350898323 rs1256567097	105	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2153510 rs373250526	107	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1017714196 CA66716059	108	H>Y		No	ClinGen Ensembl
CA2153509 rs766239972	109	S>T		No	ClinGen ExAC TOPMed gnomAD
rs760698336 CA2153508	111	S>L		No	ClinGen ExAC gnomAD
TCGA novel	114	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559919437 CA350898028	115	H>P		No	ClinGen Ensembl
rs1001831541 CA66716035	115	H>Y		No	ClinGen TOPMed
rs1239184290 CA350897996	117	D>N		No	ClinGen gnomAD
rs1359810872 CA350897901	120	Q>E		No	ClinGen gnomAD
CA350897838 rs1295583557	121	Q>L		No	ClinGen gnomAD
CA350897708 rs1355172386	124	S>F		No	ClinGen TOPMed gnomAD
CA350897745 rs1232037259	124	S>T		No	ClinGen gnomAD
rs746835706 CA66716023	125	A>P		No	ClinGen Ensembl
rs1319454360 CA350897564	129	S>L		No	ClinGen gnomAD
CA350897562 rs1382430117	130	T>A		No	ClinGen gnomAD
CA350897551 rs1278334815	130	T>I		No	ClinGen TOPMed
TCGA novel	131	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767117512 CA2153506	131	S>T		No	ClinGen ExAC gnomAD
CA2153505 rs761194334	132	K>R		No	ClinGen ExAC TOPMed gnomAD
rs774101256 CA350897415	134	H>P		No	ClinGen ExAC TOPMed gnomAD
rs774101256 CA2153504	134	H>R		No	ClinGen ExAC TOPMed gnomAD
CA350897376 rs1166947440	135	T>I		No	ClinGen gnomAD
rs376223742 CA350897361	136	R>G		No	ClinGen ESP TOPMed gnomAD
rs1559918309 RCV000734555 CA350897357	136	R>K		No	ClinGen ClinVar Ensembl dbSNP
CA350897241 rs1187417245	139	G>R		No	ClinGen TOPMed
CA350897213 rs1476337241	141	T>I		No	ClinGen TOPMed
rs371653537 CA2153501	143	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1006814717 CA66715993	145	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781546151 CA2153499	145	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1386755352 CA350897150	146	S>C		No	ClinGen TOPMed
rs1386755352 CA350897152	146	S>G		No	ClinGen TOPMed
rs201587871 CA2153496 CA2153497	146	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1334834462 CA350897063	151	R>G		No	ClinGen gnomAD
CA2153495 rs777865514	151	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350897006 rs1383969006	154	S>C		No	ClinGen TOPMed gnomAD
CA350897010 rs1383969006	154	S>G		No	ClinGen TOPMed gnomAD
rs1292945183 CA350896986	155	S>A		No	ClinGen gnomAD
CA2153492 rs746031795	155	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2153491 rs755967119	156	C>F		No	ClinGen ExAC gnomAD
CA2153490 rs750410318	157	V>I		No	ClinGen ExAC gnomAD
rs934280751 CA66715953	158	K>N		No	ClinGen TOPMed gnomAD
CA2153488 rs761760082	158	K>R		No	ClinGen ExAC gnomAD
CA2153489 rs761760082	158	K>T		No	ClinGen ExAC gnomAD
rs773762562 CA2153487	161	S>A		No	ClinGen ExAC gnomAD
rs866675473 CA66715932	162	G>E		No	ClinGen Ensembl
rs763592227 CA2153486	162	G>R		No	ClinGen ExAC gnomAD
rs1576188776 CA350896868	163	S>A		No	ClinGen Ensembl
rs775111665 CA2153484	167	G>D		No	ClinGen ExAC TOPMed gnomAD
rs202122734 CA66715905	167	G>R		No	ClinGen gnomAD
RCV001200645 rs2060087030	168	A>E		No	ClinVar dbSNP
rs746201896 CA2153482	169	E>K		No	ClinGen ExAC gnomAD
CA350896726 rs1337797747	171	R>I		No	ClinGen gnomAD
rs374836613 CA350896702	173	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs374836613 CA2153480	173	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350896578 rs1371365627	181	K>E		No	ClinGen gnomAD
CA350896547 rs1438011799	183	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350896522 rs1196568335	184	T>N		No	ClinGen TOPMed
CA350896529 rs1576187598	184	T>P		No	ClinGen Ensembl
rs199726371 CA2153475	187	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs372749816 CA350896417	189	G>A		No	ClinGen ESP ExAC gnomAD
rs372749816 CA2153474	189	G>E		No	ClinGen ESP ExAC gnomAD
TCGA novel	190	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756018503 CA2153473	191	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1167776833 CA350896357	192	T>A		No	ClinGen gnomAD
rs1167776833 CA350896359	192	T>P		No	ClinGen gnomAD
CA2153472 rs750206371	192	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1172009784 CA350896314	194	T>S		No	ClinGen TOPMed gnomAD
rs1233545772 CA350896303	195	D>N		No	ClinGen gnomAD
rs763654046 CA350896259	196	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2153468 rs763654046	196	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2153469 rs763654046	196	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA2153467 rs200742790	198	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2153466 rs752388047	199	A>S		No	ClinGen ExAC
CA2153465 rs368421747	200	A>V		No	ClinGen ESP ExAC gnomAD
rs1385161161 CA350896145	201	S>C		No	ClinGen TOPMed
CA2153463 rs150360606	202	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150360606 CA350896135	202	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2153462 rs150360606	202	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2153461 rs761102548	203	S>F		No	ClinGen ExAC gnomAD
CA2153460 rs773762691	204	S>C		No	ClinGen ExAC TOPMed gnomAD
CA350896079 rs773762691	204	S>F		No	ClinGen ExAC TOPMed gnomAD
rs779083488 CA2153457	205	S>L		No	ClinGen ExAC TOPMed gnomAD
CA350895982 rs1415095924	207	S>C		No	ClinGen gnomAD
rs539119124 CA66715736	208	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539119124 CA2153455	208	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780860370 CA2153454	209	V>A		No	ClinGen ExAC gnomAD
rs1268044773 CA350895952	209	V>I		No	ClinGen TOPMed
rs986208555 CA66715715	210	A>G		No	ClinGen gnomAD
CA2153453 rs755905858	211	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	212	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350895815 rs1189276326	213	S>C		No	ClinGen TOPMed gnomAD
CA2153448 rs764690367	214	S>T		No	ClinGen ExAC gnomAD
rs1207562069 CA350895767	215	T>A		No	ClinGen gnomAD
rs1207562069 CA350895772	215	T>P		No	ClinGen gnomAD
rs1441532074 CA350895748	216	V>I		No	ClinGen gnomAD
rs1030300128 CA66715673	217	P>A		No	ClinGen Ensembl
rs1160020440 CA350895699	217	P>L		No	ClinGen TOPMed
CA66715672 rs777617845	218	P>T		No	ClinGen Ensembl
rs753476977 CA2153446	219	G>A		No	ClinGen ExAC gnomAD
CA350895552 rs1270953985	222	V>E		No	ClinGen TOPMed gnomAD
rs1287601675 CA350895523	224	Q>K		No	ClinGen gnomAD
rs773902834 CA2153443	227	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2153442 rs772726345	229	N>I		No	ClinGen ExAC gnomAD
rs1366318847 CA350895331	230	K>Q		No	ClinGen TOPMed
CA66715654 rs1016948167	231	A>S		No	ClinGen Ensembl
CA350895241 rs758321723	232	R>S		No	ClinGen TOPMed
CA2153440 rs372495336	233	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2153441 rs372495336	233	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199831120 CA2153439	233	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350895217 rs199831120	233	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA66715625 rs372495336	233	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs894632924 CA66715586	235	R>C		No	ClinGen gnomAD
rs749529404 CA2153438	235	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2153437 rs775776901	237	A>T		No	ClinGen ExAC gnomAD
CA2153436 rs770672653	237	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2153433 rs758366814	238	S>A		No	ClinGen ExAC gnomAD
CA2153431 rs778411654	240	P>S		No	ClinGen ExAC gnomAD
CA2153429 rs753470363	243	R>G		No	ClinGen ExAC gnomAD
CA350894861 rs1463123010	244	R>G		No	ClinGen gnomAD
CA2153428 rs766029200	245	S>N		No	ClinGen ExAC gnomAD
rs534124088 CA2153427	247	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2153426 rs750845263	247	R>K		No	ClinGen ExAC gnomAD
CA350894782 rs1310295158	247	R>S		No	ClinGen gnomAD
TCGA novel	248	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002575205 CA66715504	249	K>E		No	ClinGen gnomAD
rs1362406300 CA350894672	250	E>D		No	ClinGen gnomAD
CA2153425 rs767924895	251	Q>H		No	ClinGen ExAC gnomAD
RCV001171824 rs1016589958	251	Q>P		No	ClinVar dbSNP
CA66715501 rs1016589958	251	Q>R		No	ClinGen TOPMed
CA350894630 rs1433199313	252	S>C		No	ClinGen gnomAD
CA2153424 rs566769863	252	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA350894566 rs1367989530	254	T>A		No	ClinGen gnomAD
rs774986003 CA2153423	255	G>R		No	ClinGen ExAC TOPMed gnomAD
CA66715482 rs906964031	256	G>D		No	ClinGen Ensembl
rs1392995833 CA350894523	257	S>P		No	ClinGen gnomAD
CA2153422 rs202077074	260	F>C		No	ClinGen ExAC TOPMed gnomAD
rs748018350 CA66715476	263	A>D		No	ClinGen Ensembl
rs368326930 CA2153421	264	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA66715467 rs201479336	265	R>C		No	ClinGen TOPMed gnomAD
rs201479336 CA350894346	265	R>G		No	ClinGen TOPMed gnomAD
COSM210336 CA2153420 rs188117573	265	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA66715464 rs112526208	266	F>L		No	ClinGen Ensembl
CA350894256 rs1385934095	268	P>R		No	ClinGen TOPMed
rs1220785396 CA350893970	278	S>F		No	ClinGen gnomAD
CA2153417 COSM324003 rs147289245	278	S>P	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA350893956 rs1307813147	279	L>F		No	ClinGen gnomAD
rs138526427 CA2153416	280	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350893892 rs1559909588	281	G>A		No	ClinGen Ensembl
CA350893864 rs1341806653	282	S>C		No	ClinGen gnomAD
TCGA novel	282	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350893858 rs1559909489	283	S>P		No	ClinGen Ensembl
CA350893728 rs1300230501	286	E>D		No	ClinGen TOPMed
rs141409180 CA2153411	287	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	293	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350893343 rs1270924051	299	L>S		No	ClinGen gnomAD
CA66705004 rs61750045	301	S>R		No	ClinGen Ensembl
rs1375400923 CA350886756	306	T>A		No	ClinGen TOPMed gnomAD
rs768667262 CA2153393	306	T>M		No	ClinGen ExAC gnomAD
TCGA novel	307	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769414106 CA2153390	307	K>R		No	ClinGen ExAC gnomAD
CA2153389 rs745582776	309	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1406073 CA350886661 rs757346052	309	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA66704965 rs757346052	309	R>L		No	ClinGen gnomAD
rs1258019523 CA350886635	311	E>K		No	ClinGen gnomAD
CA350886632 rs1258019523	311	E>Q		No	ClinGen gnomAD
rs1482436338 CA350886565	313	P>L		No	ClinGen gnomAD
rs1255472972 CA350886539	315	A>G		No	ClinGen gnomAD
CA350886528 rs1216514869	316	E>Q		No	ClinGen gnomAD
rs751996411 CA2153386	318	P>A		No	ClinGen ExAC gnomAD
CA2153385 rs777961637	319	S>T		No	ClinGen ExAC gnomAD
rs373579756 CA66704950	322	R>Q		No	ClinGen ESP
rs185702960 CA66704949	325	R>C		No	ClinGen 1000Genomes gnomAD
CA350886325 rs1397416234	326	Q>E		No	ClinGen gnomAD
CA2153383 rs753090320	331	S>P		No	ClinGen ExAC gnomAD
rs138707158 CA2153382	333	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350886156 rs1170370875	333	A>V		No	ClinGen TOPMed
CA350886122 rs1575789634	335	T>P		No	ClinGen Ensembl
rs369634572 CA2153350	337	R>Q		No	ClinGen ESP ExAC gnomAD
rs766377703 CA2153351 COSM1230457	337	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs982672208 CA66702620	338	R>Q		No	ClinGen TOPMed gnomAD
rs570013910 CA2153347	339	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570013910 CA2153348	339	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2153349 rs537555642	339	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA350885026 rs570013910	339	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1575721090 CA350884997	342	L>P		No	ClinGen Ensembl
rs1356058645 CA350884977	344	K>E		No	ClinGen gnomAD
rs1252311113 CA350884951	346	G>E		No	ClinGen gnomAD
CA2153346 rs202069217	347	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350884940 rs765288387	348	A>G		No	ClinGen ExAC gnomAD
rs765288387 CA2153345	348	A>V		No	ClinGen ExAC gnomAD
rs1294954119 CA350884931	350	A>S		No	ClinGen TOPMed gnomAD
CA66702614 rs899545454	351	R>C		No	ClinGen TOPMed gnomAD
CA2153344 rs776287365	351	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2153343 rs776287365	351	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1389719403 CA350884914	353	Q>R		No	ClinGen gnomAD
TCGA novel	355	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350884868 rs1281687349	359	P>T		No	ClinGen gnomAD
CA66702609 rs747157085	361	S>N		No	ClinGen Ensembl
CA350884834 rs1348974198	363	Q>H		No	ClinGen TOPMed
CA2153340 rs772738587	365	A>S		No	ClinGen ExAC TOPMed gnomAD
CA350884813 rs1454725402	367	N>D		No	ClinGen gnomAD
CA350884800 rs1444983759	369	S>T		No	ClinGen TOPMed gnomAD
CA66702578 rs182557038	370	A>G		No	ClinGen 1000Genomes TOPMed
rs1312207922 CA350884776	371	A>P		No	ClinGen TOPMed
rs1312207922 CA350884778	371	A>T		No	ClinGen TOPMed
CA66702539 rs75723349	372	R>L		No	ClinGen TOPMed gnomAD
CA66702540 rs75723349	372	R>P		No	ClinGen TOPMed gnomAD
COSM210335 rs75723349 CA350884763	372	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs200117340 CA2153337	372	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs755477311 CA2153336	373	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755477311 CA350884750	373	T>R		No	ClinGen ExAC TOPMed gnomAD
CA350884746 rs1203606558	374	D>N		No	ClinGen TOPMed
rs1032667425 CA66702515	377	P>L		No	ClinGen TOPMed
rs749734828 CA2153335	377	P>T		No	ClinGen ExAC gnomAD
TCGA novel	378	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482287557 CA350884658	380	A>G		No	ClinGen gnomAD
rs1161059340 CA350883743	383	A>V		No	ClinGen gnomAD
rs574600501 CA2153308	386	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1415047495 CA350883675	387	T>S		No	ClinGen TOPMed
rs1178344021 CA350883669	388	T>I		No	ClinGen TOPMed
CA350883644 rs1189866842	392	S>N		No	ClinGen gnomAD
rs1463173634 CA350883639	393	E>K		No	ClinGen gnomAD
CA66699290 rs911972359	396	D>Y		No	ClinGen Ensembl
CA350883565 rs1247290986	397	S>Y		No	ClinGen gnomAD
TCGA novel	398	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766208841 CA2153305	400	G>E		No	ClinGen ExAC TOPMed gnomAD
CA350883264 rs1276977549	408	A>S		No	ClinGen gnomAD
rs1226499751 CA350883256	409	R>K		No	ClinGen gnomAD
TCGA novel	409	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	410	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2052640598 RCV001268490	411	L>missing		No	ClinVar dbSNP
rs927509644 CA66698416	411	L>V		No	ClinGen TOPMed
CA350883240 rs1559694174	412	P>A		No	ClinGen Ensembl
rs771031325 CA2153292	413	P>A		No	ClinGen ExAC TOPMed gnomAD
rs747304846 CA2153291	414	H>Y		No	ClinGen ExAC gnomAD
CA350883208 rs1417636776	417	G>D		No	ClinGen TOPMed gnomAD
rs149947298 CA2153289	417	G>S		No	ClinGen ESP ExAC TOPMed
rs1366028487 CA350883204	418	P>A		No	ClinGen gnomAD
rs199893260 CA66698408	422	R>Q		No	ClinGen Ensembl
CA350883131 COSM258245 rs1384480029	426	L>F	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs779827585 CA2153287	427	F>L		No	ClinGen ExAC TOPMed gnomAD
CA66698407 rs866037335	429	R>I		No	ClinGen Ensembl
CA2153285 rs750358893	431	I>M		No	ClinGen ExAC TOPMed gnomAD
rs201122894 CA2153286	431	I>T		No	ClinGen ExAC gnomAD
CA66698399 rs752996383	431	I>V		No	ClinGen gnomAD
rs767001108 CA2153284	433	S>C		No	ClinGen ExAC gnomAD
rs550051391 CA2153264	436	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757136547 CA2153263	437	S>A		No	ClinGen ExAC gnomAD
TCGA novel	437	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	437	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1033538724 CA66716609	438	K>E		No	ClinGen TOPMed
rs868703677 CA66716606	440	Q>*		No	ClinGen Ensembl
CA2153258 rs765589069	449	S>R		No	ClinGen ExAC gnomAD
CA2153256 rs201680858	453	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2153255 rs767018878	454	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	459	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350923475 rs1335562943	459	I>S		No	ClinGen gnomAD
rs1463458340 CA350923384	471	E>D		No	ClinGen TOPMed
CA350923358 rs1575462735	476	F>V		No	ClinGen Ensembl
rs1156890675 CA350923325	480	S>R		No	ClinGen gnomAD
rs1452738265 CA350923317	482	V>I		No	ClinGen gnomAD
rs1368878276 CA350923311	483	P>A		No	ClinGen TOPMed gnomAD
CA350923312 rs1368878276	483	P>T		No	ClinGen TOPMed gnomAD
CA2153226 rs756464081	487	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768928717 CA2153224	491	M>I		No	ClinGen ExAC gnomAD
CA350922546 rs1384815366	497	I>T		No	ClinGen gnomAD
TCGA novel	503	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350922458 rs1404495523	506	T>A		No	ClinGen gnomAD
TCGA novel	507	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM168561 rs1171317809 CA350922299	514	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1469794393 CA350922264	516	S>F		No	ClinGen gnomAD
CA350922258 rs1575419675	517	A>T		No	ClinGen Ensembl
rs762161275 CA2153201	518	V>I		No	ClinGen ExAC gnomAD
CA66713753 rs1053266513	520	V>G		No	ClinGen Ensembl
rs1220457207 CA350922169	521	D>N		No	ClinGen gnomAD
rs759684845 CA2153173	535	C>Y		No	ClinGen ExAC gnomAD
rs1366062455 CA350921786	540	E>G		No	ClinGen gnomAD
rs373685237 CA2153171	542	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001008952 rs1575409311	547	E>missing		No	ClinVar dbSNP
rs1324698211 CA350921711	551	R>Q		No	ClinGen gnomAD
rs368864055 CA2153170	551	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	557	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168673224 CA350921663	558	L>V		No	ClinGen TOPMed gnomAD
CA2153169 rs139703319	560	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316687081 CA350921628	561	G>D		No	ClinGen TOPMed gnomAD
CA2153146 rs769406243	566	C>S		No	ClinGen ExAC gnomAD
CA66712454 rs949290361	568	L>M		No	ClinGen Ensembl
rs893810730 CA66712452	574	S>G		No	ClinGen TOPMed
rs1307013738 CA350921325	587	N>D		No	ClinGen TOPMed gnomAD
rs776142962 CA2153144	591	S>N		No	ClinGen ExAC gnomAD
CA350921249 rs1221470547	591	S>R		No	ClinGen gnomAD
COSM129918 rs1283122334 CA350921241	592	I>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs142882915 CA2153143	593	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350921199 rs1559584167	598	H>D		No	ClinGen Ensembl
CA66712439 rs988037520 COSM1692133	601	A>T	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2153140 rs758932520	602	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350921134 rs1559583978	604	L>I		No	ClinGen Ensembl
CA2153138 rs779010108	605	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779010108 CA350921117	605	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs748601787 CA2153139	605	P>S		No	ClinGen ExAC gnomAD
rs1243029149 CA350919979	615	D>N		No	ClinGen gnomAD
TCGA novel	621	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759103721 CA2153124	622	T>A		No	ClinGen ExAC gnomAD
RCV001310778 rs2047156750	626	F>S		No	ClinVar dbSNP
rs776146801 CA2153123	627	A>T		No	ClinGen ExAC TOPMed gnomAD
rs144822705 CA2153122	628	R>H		No	ClinGen ESP ExAC gnomAD
rs1335962145 CA350919816	632	N>S		No	ClinGen gnomAD
rs1575361870 CA350919793	635	H>P		No	ClinGen Ensembl
rs748724504	637	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1299842707 CA350919747	638	N>S		No	ClinGen TOPMed
CA66709991 rs756106835	640	L>V		No	ClinGen Ensembl
CA350919708 rs1381402949	641	Q>L		No	ClinGen gnomAD
rs1423043029 CA350919644	646	K>R		No	ClinGen TOPMed gnomAD
CA350919593 rs1169225234 COSM1406067	650	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs762183066 CA2153100	651	N>S		No	ClinGen ExAC gnomAD
rs1371792711 CA350919564	653	Q>E		No	ClinGen gnomAD
CA350919561 rs1193132112	653	Q>P		No	ClinGen gnomAD
TCGA novel	654	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350919533 rs1247081356	655	L>Q		No	ClinGen Ensembl
CA2153098 rs769185780	658	V>L		No	ClinGen ExAC gnomAD
CA2153095 rs142112688	661	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA350919465 rs1249517847	662	I>V		No	ClinGen gnomAD
TCGA novel	670	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285034507 CA350919361	670	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA66709905 rs998461178	673	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs557555550 CA2153092	673	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752542326 CA2153090	674	M>L		No	ClinGen ExAC gnomAD
CA350919307 rs1559560779	678	M>I		No	ClinGen Ensembl
CA350919309 rs1487495889	678	M>T		No	ClinGen TOPMed
rs1260137654 CA350919312	678	M>V		No	ClinGen TOPMed
CA2153088 rs770793335	681	N>S		No	ClinGen ExAC gnomAD
CA66709876 rs770793335	681	N>T		No	ClinGen ExAC gnomAD
rs753789064 CA2153087	683	P>S		No	ClinGen ExAC gnomAD
CA2153086 rs765842939	690	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1182129623 CA350919216	690	M>K		No	ClinGen TOPMed gnomAD
CA66709858 rs746905236 CA350919218	690	M>L		No	ClinGen gnomAD
rs1182129623 CA350919213	690	M>T		No	ClinGen TOPMed gnomAD
CA350919192 rs1247881693	691	K>R		No	ClinGen gnomAD
TCGA novel	694	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1050462875 CA66708006	694	I>V		No	ClinGen TOPMed
rs1348723385 CA350918141	695	A>S		No	ClinGen gnomAD
rs1279213762 CA350918131	695	A>V		No	ClinGen gnomAD
CA2153066 rs745382893	697	T>M		No	ClinGen ExAC TOPMed gnomAD
CA350917924 rs1559544488	705	A>G		No	ClinGen Ensembl
CA2153061 rs751183550	706	S>A		No	ClinGen ExAC gnomAD
rs562352105 CA2153060	707	N>S		No	ClinGen ExAC TOPMed gnomAD
CA66707985 rs956253648	708	G>E		No	ClinGen TOPMed gnomAD
CA350917826 rs1386605432	710	C>F		No	ClinGen TOPMed gnomAD
CA2153059 rs763363707	710	C>G		No	ClinGen ExAC gnomAD
rs1386605432 CA350917829	710	C>Y		No	ClinGen TOPMed gnomAD
CA350917812 rs1181665340	711	Q>E		No	ClinGen gnomAD
rs1444004863 CA350917804	711	Q>R		No	ClinGen gnomAD
rs1209011129 CA350917766	713	Q>P		No	ClinGen TOPMed
CA2153058 rs775658776	714	I>M		No	ClinGen ExAC gnomAD
rs1217606682 CA350917743	715	D>H		No	ClinGen gnomAD
rs537695445 CA2153057	717	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel CA350917664 rs1575313713	719	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA350917643 rs1443103808	720	S>T		No	ClinGen TOPMed
CA350917536 rs1212268265	725	Y>C		No	ClinGen TOPMed
rs771109389 CA2153054	731	I>V		No	ClinGen ExAC gnomAD
TCGA novel	734	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350917396 rs1437691392	735	M>T		No	ClinGen gnomAD
TCGA novel	735	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2153023 rs752268684	737	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2153022 rs779371955	737	C>Y		No	ClinGen ExAC gnomAD
rs755386181 CA2153021	739	P>S		No	ClinGen ExAC gnomAD
rs1373424845 CA350917364	740	K>E		No	ClinGen gnomAD
rs754451258 TCGA novel CA2153020	740	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA350917321 rs1406283100	742	G>D		No	ClinGen gnomAD
rs767004179 CA2153019	743	I>V		No	ClinGen ExAC gnomAD
TCGA novel	744	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	745	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761227406 CA2153018	746	V>I		No	ClinGen ExAC gnomAD
rs377414186 CA2153017	748	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377414186 CA66707590	748	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762135828 CA2153015	749	M>K		No	ClinGen ExAC gnomAD
CA2153016 rs762135828	749	M>T		No	ClinGen ExAC gnomAD
rs765636286 CA66707583	749	M>V		No	ClinGen Ensembl
rs1419965046 CA350917206	750	L>V		No	ClinGen gnomAD
TCGA novel	751	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350917178 rs1444131578	751	K>R		No	ClinGen TOPMed
CA350917064 rs1480360757	756	Q>E		No	ClinGen gnomAD
rs1559539244 CA350917045	757	N>D		No	ClinGen Ensembl
CA66707562 rs749413035	758	T>I		No	ClinGen Ensembl
rs774432708 CA2153014	760	G>V		No	ClinGen ExAC TOPMed gnomAD
CA350916917 rs1216964593	762	I>T		No	ClinGen gnomAD
rs934780847 CA66707531	762	I>V		No	ClinGen gnomAD
CA66707516 rs77349483	765	W>G		No	ClinGen Ensembl
CA2153008 rs777391885	766	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771449425 CA2153007	766	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777391885 CA2153009	766	R>S		No	ClinGen ExAC gnomAD
rs747897644 CA2153006	769	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1375566736 CA350916767	769	R>W		No	ClinGen gnomAD
CA66707463 rs996236519	773	H>Y		No	ClinGen TOPMed
CA66707460 rs924588252	776	N>D		No	ClinGen TOPMed
CA66707452 rs968716659	777	R>K		No	ClinGen Ensembl
rs142756508 CA2153005	778	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454132755 CA350916554	781	R>Q		No	ClinGen gnomAD
rs965568553 CA66707429	783	I>V		No	ClinGen Ensembl
CA2153001 rs756738827	784	E>Q		No	ClinGen ExAC gnomAD
CA350914905 rs1324055260	786	I>V		No	ClinGen TOPMed gnomAD
rs371628854 CA2152966	787	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350914771 rs1329544154	790	T>A		No	ClinGen gnomAD
rs1393224986 CA350914758	790	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	795	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350914498 rs1575267438	799	K>N		No	ClinGen Ensembl
CA2152960 rs777870781	801	N>S		No	ClinGen ExAC gnomAD
CA2152959 rs758467687	802	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201776333 CA2152956	805	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs750133504 CA66706304	806	S>G		No	ClinGen TOPMed
rs750214279 CA2152955	806	S>N		No	ClinGen ExAC gnomAD
CA350914237 rs1443549426	807	N>D		No	ClinGen TOPMed
CA66706278 rs1038460825	808	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1236256927 CA350914207	808	T>P		No	ClinGen TOPMed gnomAD
CA350914197 rs1236256927	808	T>S		No	ClinGen TOPMed gnomAD
CA350913151 rs1368701119	809	S>N		No	ClinGen TOPMed
CA66704962 rs372044642	814	S>L		No	ClinGen ESP TOPMed gnomAD
CA2152921 rs771257539	817	D>N		No	ClinGen ExAC gnomAD
CA2152920 rs761037799	817	D>V		No	ClinGen ExAC gnomAD
TCGA novel	817	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773495557 CA2152919	819	A>P		No	ClinGen ExAC gnomAD
CA350912893 rs1257987053	819	A>V		No	ClinGen gnomAD
CA2152918 rs147549640	820	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152916 rs768779711	826	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2152917 rs748601977	826	E>G		No	ClinGen ExAC gnomAD
CA350912792 rs1361735319	827	D>E		No	ClinGen gnomAD
rs749533561 CA2152914	828	P>L		No	ClinGen ExAC gnomAD
CA2152911 rs746832820	829	E>D		No	ClinGen ExAC TOPMed gnomAD
rs756338297 CA2152912	829	E>K		No	ClinGen ExAC TOPMed gnomAD
rs930149245 CA66704893	831	A>T		No	ClinGen TOPMed
CA66704891 rs777895718	832	K>E		No	ClinGen gnomAD
rs777895718 CA350912747	832	K>Q		No	ClinGen gnomAD
CA2152909 rs758457800	833	S>F		No	ClinGen ExAC gnomAD
CA2152910 rs777664064	833	S>T		No	ClinGen ExAC gnomAD
TCGA novel	834	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350912654 rs1321492546	837	T>I		No	ClinGen gnomAD
TCGA novel	842	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140030229 CA2152907	845	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA350912435 rs1159346137	852	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1369817365 CA350912438	852	P>S		No	ClinGen gnomAD
rs754497274 CA2152906	853	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1448356876 CA350912331	861	A>S		No	ClinGen gnomAD
rs923481504 CA66704857	866	I>V		No	ClinGen TOPMed gnomAD
rs202146534 CA2152903	869	A>E		No	ClinGen ExAC TOPMed gnomAD
rs202146534 CA350912232	869	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350912225 rs1275745953	870	D>V		No	ClinGen gnomAD
CA2152902 rs367659885	871	A>T		No	ClinGen ESP ExAC gnomAD
CA350912197 rs1317732828	872	E>D		No	ClinGen gnomAD
CA66704831 rs971769755	873	L>P		No	ClinGen Ensembl
CA350912084 rs1278131408	881	H>Q		No	ClinGen TOPMed
CA2152900 rs762377294	881	H>Y		No	ClinGen ExAC gnomAD
rs774911790 CA2152899	883	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755810077 CA2152884	887	I>V		No	ClinGen ExAC TOPMed gnomAD
rs144458999 CA66704487	888	A>T		No	ClinGen ESP gnomAD
rs1053890414 CA66704477	891	L>P		No	ClinGen Ensembl
rs767930407 CA2152882	894	Q>*		No	ClinGen ExAC gnomAD
CA350911757 rs767930407	894	Q>E		No	ClinGen ExAC gnomAD
CA350911717 rs1478429041	896	L>M		No	ClinGen TOPMed
CA66704460 rs1041238634	899	V>I		No	ClinGen TOPMed gnomAD
rs774517508 CA2152880	903	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2152879 rs764693238	905	M>L		No	ClinGen ExAC gnomAD
rs1439550014 CA350911187	915	D>E		No	ClinGen TOPMed gnomAD
CA2152858 rs764345117	930	V>I		No	ClinGen ExAC gnomAD
CA2152857 rs763557758	935	E>K		No	ClinGen ExAC gnomAD
CA350910195 rs1214677173	936	S>L		No	ClinGen TOPMed
CA2152856 rs753249471	938	S>P		No	ClinGen ExAC TOPMed gnomAD
CA350910179 rs753249471	938	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2152855 rs765463964	939	L>S		No	ClinGen ExAC gnomAD
rs1311663248 CA350910127	942	S>C		No	ClinGen gnomAD
CA350910124 rs1214954819	942	S>N		No	ClinGen gnomAD
rs1342554657 CA350910121	943	P>T		No	ClinGen gnomAD
rs370952872 CA66703599	946	A>T		No	ClinGen ESP TOPMed
rs1374174105 CA350910091	947	C>F		No	ClinGen gnomAD
CA350910095 rs1366337913	947	C>R		No	ClinGen gnomAD
rs540236985 CA66703578	948	T>A		No	ClinGen Ensembl
rs1295799432 CA350910084	948	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774247922 CA2152850	949	N>S		No	ClinGen ExAC gnomAD
rs1425284180 CA350910074	950	G>E		No	ClinGen gnomAD
rs749308827 CA2152848	950	G>R		No	ClinGen ExAC gnomAD
CA350910066 rs1191121692	951	S>L		No	ClinGen TOPMed gnomAD
CA2152847 rs779983740	952	G>V		No	ClinGen ExAC gnomAD
rs769656898 CA2152846	954	M>T		No	ClinGen ExAC TOPMed gnomAD
rs370254099 CA66703527	955	G>V		No	ClinGen ESP TOPMed
CA350910040 rs1297714340	956	S>P		No	ClinGen TOPMed
CA2152845 rs560180072	957	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1204918831 CA350910014	960	V>A		No	ClinGen gnomAD
rs780632356 CA2152844	963	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1311264751 CA350909996	963	G>R		No	ClinGen TOPMed
CA350909985 rs1346391299	965	A>P		No	ClinGen gnomAD
CA66703491 rs932315328	966	T>I		No	ClinGen TOPMed gnomAD
CA2152842 rs751143250	966	T>P		No	ClinGen ExAC gnomAD
rs758674820 CA2152840	967	A>P		No	ClinGen ExAC gnomAD
rs200534508 CA2152839	967	A>V		No	ClinGen ExAC
CA350909969 rs1467494373	968	A>T		No	ClinGen gnomAD
rs760076225 CA2152836	969	T>P		No	ClinGen ExAC gnomAD
CA66703455 rs920901333	972	A>T		No	ClinGen TOPMed gnomAD
CA2152834 COSM242056 rs766343751	974	D>N	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1336531264 CA350909904	978	P>L		No	ClinGen TOPMed
rs767722423 CA2152830	983	S>G		No	ClinGen ExAC gnomAD
TCGA novel	983	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762742179 CA2152829	983	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1258012848 CA350909841	987	S>A		No	ClinGen gnomAD
rs1407475499 CA350909824	989	D>E		No	ClinGen gnomAD
rs775225908 CA2152828	990	L>F		No	ClinGen ExAC gnomAD
CA350909797 rs1449740597	993	Q>H		No	ClinGen gnomAD
rs1308327763 CA350909799	993	Q>R		No	ClinGen TOPMed gnomAD
COSM1017540 rs770841021 CA2152805	995	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350909158 rs772616296	998	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2152803 rs772733467	998	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA66701279 rs867168130	999	V>F		No	ClinGen Ensembl
TCGA novel	1003	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1004	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366848506 CA350909047	1004	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs994865099 CA66701271	1006	P>L		No	ClinGen Ensembl
rs779458635 CA2152800	1006	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1010	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428234948 CA350908919	1013	P>T		No	ClinGen TOPMed
TCGA novel	1015	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66701248 rs182816434	1015	Y>H		No	ClinGen 1000Genomes
CA2152798 rs749609353	1016	S>P		No	ClinGen ExAC gnomAD
TCGA novel	1017	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs979635612 CA66701233	1018	P>S		No	ClinGen TOPMed
rs1401278321 CA350908826	1020	D>N		No	ClinGen gnomAD
rs1297506126 CA350908791	1021	D>G		No	ClinGen gnomAD
rs1358143793 CA350908795	1021	D>H		No	ClinGen gnomAD
CA350908789 rs1297506126	1021	D>V		No	ClinGen gnomAD
CA2152796 rs200100616	1025	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373245951 CA2152779	1028	A>G		No	ClinGen ESP ExAC gnomAD
rs1201135486 CA350907923	1029	K>N		No	ClinGen TOPMed
CA350907894 rs1197162232	1030	S>I		No	ClinGen gnomAD
CA350907848 rs1315633081	1032	T>A		No	ClinGen TOPMed gnomAD
CA2152778 rs770253729	1033	T>A		No	ClinGen ExAC gnomAD
CA350907805 rs1219276634	1033	T>S		No	ClinGen TOPMed gnomAD
rs1039258345 CA66700958	1034	T>A		No	ClinGen gnomAD
rs1272989662 CA350907780	1034	T>I		No	ClinGen gnomAD
CA350907669 rs1377571973	1038	K>E		No	ClinGen gnomAD
CA2152775 rs757319677	1046	N>Y		No	ClinGen ExAC gnomAD
rs369515267 CA2152774	1047	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043460324 CA66700940	1050	W>R		No	ClinGen TOPMed
CA2152773 rs777973556	1051	G>R		No	ClinGen ExAC gnomAD
rs758575075 CA2152772	1052	R>M		No	ClinGen ExAC gnomAD
CA350907259 rs1575155697	1055	T>A		No	ClinGen Ensembl
CA2152770 rs375003498	1056	Q>H		No	ClinGen ESP ExAC gnomAD
CA2152771 rs753593704	1056	Q>R		No	ClinGen ExAC gnomAD
rs1165664549 CA350907196	1058	N>D		No	ClinGen gnomAD
rs911269979 CA66700893	1058	N>S		No	ClinGen TOPMed gnomAD
CA350907170 rs1468979185	1059	S>N		No	ClinGen Ensembl
CA350907146 rs1336956354	1060	N>S		No	ClinGen TOPMed
rs1231934651 CA350907102	1062	I>N		No	ClinGen gnomAD
CA2152769 rs760569263	1064	P>S		No	ClinGen ExAC gnomAD
CA350907067 rs1313437872	1065	A>P		No	ClinGen gnomAD
rs750369222 CA2152768	1065	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773960182 CA2152765	1066	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs138563340 CA2152766	1066	R>W		No	ClinGen ESP ExAC gnomAD
rs946885394 CA66700825	1068	A>S		No	ClinGen TOPMed
rs371995308 CA2152764 COSM1732588	1068	A>V	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs972994851 CA66700773	1069	G>E		No	ClinGen Ensembl
CA350906976 rs1298864132	1076	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1575154596 CA350906972	1077	A>T		No	ClinGen Ensembl
CA350906965 rs1450389312	1078	S>P		No	ClinGen gnomAD
rs746423230 CA2152760	1084	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1089	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292894108 CA350906873	1089	I>V		No	ClinGen TOPMed gnomAD
rs747487845 CA2152739	1091	G>D		No	ClinGen ExAC gnomAD
rs2043183193 RCV001268140	1092	W>*		No	ClinVar dbSNP
TCGA novel	1093	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350906805 rs1342617681	1094	K>R		No	ClinGen gnomAD
CA2152738 rs773319914	1097	A>S		No	ClinGen ExAC gnomAD
CA350906767 rs773319914	1097	A>T		No	ClinGen ExAC gnomAD
CA66699850 rs953153715	1097	A>V		No	ClinGen TOPMed gnomAD
CA350906759 rs1279948991	1098	H>R		No	ClinGen gnomAD
CA66699849 rs915172067	1101	V>I		No	ClinGen TOPMed
rs137923709 CA2152737	1102	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs945535418 CA66699848	1102	E>K		No	ClinGen TOPMed
rs748375337 CA2152736	1103	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2152735 rs779208475	1103	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1293880953 CA350906722	1104	Y>D		No	ClinGen gnomAD
CA2152733 rs745682808	1107	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350906683 rs1425360686	1109	N>S		No	ClinGen gnomAD
rs1430869603 CA350906678	1110	M>V		No	ClinGen TOPMed
rs781113040 CA2152732	1112	G>A		No	ClinGen ExAC gnomAD
rs1438935495 CA350906656	1113	S>G		No	ClinGen gnomAD
CA350906639 rs1427453488	1115	P>S		No	ClinGen gnomAD
rs757300735 CA2152731	1116	A>S		No	ClinGen ExAC gnomAD
rs763759128 CA2152729	1118	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1348329771 CA350906600	1121	Q>R		No	ClinGen TOPMed gnomAD
rs752084727 CA2152727	1122	R>S		No	ClinGen ExAC TOPMed gnomAD
CA350906572 rs140245009	1125	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152726 rs140245009	1125	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350906565 rs1256441387	1126	A>S		No	ClinGen gnomAD
rs1226754394 CA350906557	1127	T>A		No	ClinGen TOPMed gnomAD
COSM1017539 CA2152724 rs201269010	1128	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2152723 rs766695181	1131	N>H		No	ClinGen ExAC gnomAD
CA66699766 rs1003150959	1131	N>S		No	ClinGen TOPMed gnomAD
CA350906408 rs1325344966	1132	L>F		No	ClinGen TOPMed gnomAD
CA2152708 rs778262518	1135	D>V		No	ClinGen ExAC TOPMed gnomAD
rs754660833 CA2152707	1136	G>D		No	ClinGen ExAC gnomAD
rs753484319 CA2152706	1138	A>S		No	ClinGen ExAC TOPMed gnomAD
CA66699140 rs935173221	1138	A>V		No	ClinGen TOPMed gnomAD
rs1180835627 CA350905392	1140	C>R		No	ClinGen gnomAD
CA66699124 rs902331311	1141	L>F		No	ClinGen TOPMed
CA2152703 rs750718712	1141	L>H		No	ClinGen ExAC gnomAD
rs768092898 CA2152702	1142	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1287357708 CA350905290	1144	I>M		No	ClinGen TOPMed gnomAD
CA2152701 rs374034692	1144	I>V		No	ClinGen ESP ExAC gnomAD
CA2152700 rs143058668	1145	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152699 rs144686733 COSM107134	1145	R>H	large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs763328011 CA2152698	1147	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1147	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66699090 rs970780241	1147	I>V		No	ClinGen Ensembl
TCGA novel	1155	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1155	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1157	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66699070 rs867643067	1159	Q>*		No	ClinGen Ensembl
rs1374389830 CA350904889	1163	F>L		No	ClinGen gnomAD
TCGA novel	1167	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350904795 rs1382723023	1168	L>F		No	ClinGen gnomAD
rs1218345506 CA350904741	1171	L>F		No	ClinGen TOPMed
CA350904684 rs1157737054	1173	S>T		No	ClinGen gnomAD
CA350904645 rs1266251923	1174	K>E		No	ClinGen TOPMed
CA350904643 rs1473028942	1174	K>T		No	ClinGen gnomAD
rs772093827 CA2152693	1177	K>E		No	ClinGen ExAC gnomAD
TCGA novel	1177	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001008446 rs1575124128	1178	D>missing		No	ClinVar dbSNP
rs748001184 CA2152692	1178	D>G		No	ClinGen ExAC gnomAD
rs1186158245 CA350904508	1178	D>H		No	ClinGen TOPMed gnomAD
CA350904511 rs1186158245	1178	D>N		No	ClinGen TOPMed gnomAD
rs1263914570 CA350904476	1179	A>T		No	ClinGen TOPMed gnomAD
CA350904367 rs1445730101	1182	R>K		No	ClinGen gnomAD
rs778549282 COSM1614491 CA2152691	1184	I>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2152690 rs754470138	1186	L>F		No	ClinGen ExAC gnomAD
rs1417292516 CA350904241	1186	L>S		No	ClinGen TOPMed
rs753287404 CA2152689	1188	R>Q		No	ClinGen ExAC gnomAD
CA350904169 rs1158264984	1190	L>F		No	ClinGen TOPMed
TCGA novel	1191	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152688 rs779683585	1191	H>R		No	ClinGen ExAC gnomAD
rs755722124 CA350904129	1192	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755722124 CA2152687	1192	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1421223004 CA350904109	1193	F>Y		No	ClinGen TOPMed
rs144526249 CA2152684	1196	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152662 rs751889329	1201	E>G		No	ClinGen ExAC gnomAD
CA2152663 rs757579123	1201	E>Q		No	ClinGen ExAC gnomAD
CA350903858 rs1251712446	1203	P>S		No	ClinGen gnomAD
rs1054579233 CA350903840	1204	I>M		No	ClinGen TOPMed gnomAD
CA350903844 rs182681439	1204	I>N		No	ClinGen 1000Genomes gnomAD
CA66698111 rs182681439	1204	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA2152659 rs752869357	1205	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350903838 rs758928514 CA2152660	1205	G>R		No	ClinGen ExAC gnomAD
CA2152658 rs765374325	1209	P>L		No	ClinGen ExAC TOPMed gnomAD
CA350903794 rs765374325	1209	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2152656 rs776700291	1211	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2152657 rs759865228	1211	G>S		No	ClinGen ExAC gnomAD
TCGA novel	1212	N>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350903761 rs1480287128	1213	A>T		No	ClinGen gnomAD
CA2152654 rs761517416	1214	P>H		No	ClinGen ExAC gnomAD
CA2152655 rs766563649	1214	P>S		No	ClinGen ExAC gnomAD
rs1031986426 CA66698039	1216	L>W		No	ClinGen Ensembl
rs749193647 CA2152651	1219	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1173627007 CA350903644	1221	K>R		No	ClinGen gnomAD
rs1278802256 CA350903579	1224	N>D		No	ClinGen TOPMed
CA350903535 rs1341437584	1226	L>F		No	ClinGen TOPMed
TCGA novel	1230	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350903457 RCV001007989 rs1575105918	1231	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA350903428 rs1217388208	1232	F>C		No	ClinGen TOPMed
rs1175867595 CA350903424	1232	F>L		No	ClinGen gnomAD
CA350903422 rs1559455095	1233	P>S		No	ClinGen Ensembl
rs769281705 CA2152649	1235	K>N		No	ClinGen ExAC gnomAD
CA66698009 rs199973229	1236	V>A		No	ClinGen Ensembl
CA2152648 rs745327132	1236	V>I		No	ClinGen ExAC gnomAD
CA350903365 rs1312486170	1237	H>R		No	ClinGen TOPMed
rs1210172831 CA350903346	1238	D>A		No	ClinGen gnomAD
CA2152646 rs756897996	1240	P>L		No	ClinGen ExAC gnomAD
rs1278092812 CA350903313	1240	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA350902926 rs1379374866	1243	N>D		No	ClinGen TOPMed gnomAD
rs1308815055 CA350902923	1243	N>S		No	ClinGen TOPMed gnomAD
CA350902912 rs1372829607	1245	T>A		No	ClinGen gnomAD
CA2152643 rs369589460	1247	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152630 rs775420771	1257	A>D		No	ClinGen ExAC gnomAD
TCGA novel	1257	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1259	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66691396 rs865774323 COSM1017536	1259	K>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1235300417 CA350902481	1260	F>I		No	ClinGen gnomAD
CA350902444 rs1292703195	1262	N>K		No	ClinGen gnomAD
rs769709519 CA2152629	1262	N>S		No	ClinGen ExAC gnomAD
rs1200470356 CA350902425	1264	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs745404222 CA2152628	1269	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000578832 CA350902316 rs1553610240	1271	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs1287684828 CA350902312	1271	Q>R		No	ClinGen gnomAD
CA350902302 rs1453484105	1272	R>G		No	ClinGen gnomAD
TCGA novel	1273	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66691384 rs1018835022	1273	H>R		No	ClinGen Ensembl
rs1167568492 CA350902286	1273	H>Y		No	ClinGen gnomAD
CA66691378 rs536902635	1274	P>S		No	ClinGen gnomAD
TCGA novel	1275	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350902261 rs1469142229	1275	D>G		No	ClinGen TOPMed
rs770542157 CA2152626	1275	D>H		No	ClinGen ExAC gnomAD
rs746638865 CA2152625	1276	C>G		No	ClinGen ExAC gnomAD
TCGA novel	1277	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350902238 rs1575074199	1277	A>T		No	ClinGen Ensembl
CA2152624 rs778345335	1278	N>D		No	ClinGen ExAC TOPMed gnomAD
rs772548934 CA2152623	1278	N>K		No	ClinGen ExAC gnomAD
rs1183597663 CA350902221	1278	N>S		No	ClinGen gnomAD
CA2152622 rs748463572 CA350902146	1283	K>N		No	ClinGen ExAC gnomAD
rs1575073974 RCV001009146	1284	G>missing		No	ClinVar dbSNP
TCGA novel	1284	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1287	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1288	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350901987 rs1332901100	1295	V>I		No	ClinGen gnomAD
TCGA novel	1297	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199688160 CA2152618	1298	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1046843212 CA66691324	1299	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2152617 rs369342029	1303	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559432359 CA350901473	1308	G>E		No	ClinGen Ensembl
TCGA novel	1309	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66690591 rs918847293	1310	V>L		No	ClinGen TOPMed gnomAD
CA350901419 rs1182281230	1311	R>T		No	ClinGen gnomAD
CA2152584 rs771871614	1312	E>D		No	ClinGen ExAC gnomAD
CA350901364 rs1421062058	1312	E>V		No	ClinGen gnomAD
rs377294298 CA2152583	1313	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs972864368 CA66690543	1316	D>E		No	ClinGen TOPMed
CA66690539 rs962906182	1318	D>N		No	ClinGen TOPMed
CA350901088 rs1575061811	1320	D>G		No	ClinGen Ensembl
CA350901005 rs1310390372	1323	D>N		No	ClinGen gnomAD
rs889305820 CA66690512	1324	E>D		No	ClinGen TOPMed
rs1402185691 CA350900912	1326	I>T		No	ClinGen TOPMed gnomAD
CA350900915 rs1559431651	1326	I>V		No	ClinGen Ensembl
CA66690417 rs990609700	1333	Q>H		No	ClinGen Ensembl
TCGA novel	1337	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355718880 CA350900563	1337	S>P		No	ClinGen gnomAD
CA2152565 rs774066497	1339	N>I		No	ClinGen ExAC TOPMed gnomAD
rs763588105 CA2152564	1339	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2152563 rs763408388	1340	V>L		No	ClinGen ExAC gnomAD
rs1382425573 CA350900459	1341	R>S		No	ClinGen gnomAD
TCGA novel	1345	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350900372 rs1420336140	1345	Q>H		No	ClinGen gnomAD
rs770337108 CA2152561	1347	Y>C		No	ClinGen ExAC gnomAD
CA350900330 rs1162842545	1347	Y>H		No	ClinGen gnomAD
CA350900177 rs1367634297	1351	H>R		No	ClinGen TOPMed
CA2152558 rs770981141	1351	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1353	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152556 rs778058768	1354	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA66690331 rs866985274	1354	P>S		No	ClinGen Ensembl
TCGA novel	1355	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749129526 CA2152554	1362	A>V		No	ClinGen ExAC gnomAD
rs756160444 CA2152552	1364	R>Q		No	ClinGen ExAC gnomAD
rs1355119400 CA350899757	1364	R>W		No	ClinGen gnomAD
rs140760161 CA2152551	1366	F>C		No	ClinGen ESP ExAC gnomAD
CA350899693 rs1432737735	1366	F>V		No	ClinGen gnomAD
CA66690279 rs79707902	1367	S>C		No	ClinGen Ensembl
rs538854858 CA2152550	1368	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1010692078 CA66690277	1368	I>V		No	ClinGen gnomAD
TCGA novel	1368	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66690270 rs981241633	1369	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	1372	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1374	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350899416 rs1324210839	1374	R>S		No	ClinGen gnomAD
TCGA novel	1375	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771838498	1375	E>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774847694 COSM291359 CA2152547	1382	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1383	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474688656 COSM4128193 CA350899107	1384	L>V	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs893663432 CA66690232	1387	A>G		No	ClinGen Ensembl
TCGA novel	1387	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762494296 CA2152545	1388	G>A		No	ClinGen ExAC gnomAD
rs762494296 CA350898987	1388	G>D		No	ClinGen ExAC gnomAD
rs1559427877 CA350898895	1392	K>E		No	ClinGen Ensembl
rs775966649 CA2152544	1395	T>A		No	ClinGen ExAC gnomAD
rs1470152026 CA350898751	1395	T>I		No	ClinGen gnomAD
CA350898534 rs1471860767	1397	W>C		No	ClinGen TOPMed
TCGA novel	1400	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1400	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152531 rs745592977	1400	P>R		No	ClinGen ExAC gnomAD
rs781461159 CA2152529	1401	V>E		No	ClinGen ExAC TOPMed gnomAD
rs781311402 CA2152530	1401	V>M		No	ClinGen ExAC gnomAD
CA350898429 rs1300925899	1403	E>K		No	ClinGen gnomAD
CA2152527 rs777119662	1404	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2152526 rs758139784	1405	E>G		No	ClinGen ExAC gnomAD
CA2152525 rs752283040	1407	S>G		No	ClinGen ExAC gnomAD
CA350898296 rs1238243673	1408	N>S		No	ClinGen Ensembl
rs1559423330 CA350898133	1412	V>I		No	ClinGen Ensembl
CA2152523 rs759895324	1413	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2152524 rs759895324	1413	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1416	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152521 rs766891464	1419	A>S		No	ClinGen ExAC
rs761063294 CA2152520	1420	Q>E		No	ClinGen ExAC gnomAD
rs773380568 CA2152519	1422	A>V		No	ClinGen ExAC gnomAD
CA2152518 rs772040189	1424	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762153765 CA2152517	1424	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1178647201 CA350897701	1425	K>R		No	ClinGen gnomAD
rs745681066 CA2152514	1426	T>A		No	ClinGen ExAC gnomAD
CA2152513 rs781113364	1428	P>R		No	ClinGen ExAC gnomAD
rs770943319 CA2152512	1430	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1209146216 CA350897509	1432	K>E		No	ClinGen gnomAD
CA2152510 rs777403221	1436	E>D		No	ClinGen ExAC gnomAD
rs143446404 CA350897287 CA350897277	1439	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1439	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350895818 rs1243582782	1440	D>G		No	ClinGen gnomAD
CA350895778 rs1559412957 COSM1614489	1442	V>M	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	1445	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152498 rs761830130	1446	V>I		No	ClinGen ExAC gnomAD
CA350895649 rs761830130	1446	V>L		No	ClinGen ExAC gnomAD
rs866059605 CA66688841	1448	N>D		No	ClinGen TOPMed
rs774526069 CA2152497	1451	E>D		No	ClinGen ExAC gnomAD
CA2152496 rs764462484	1452	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763239256 CA2152495	1453	Y>C		No	ClinGen ExAC gnomAD
rs1264632869 CA350895395	1456	P>A		No	ClinGen TOPMed
rs532927215 CA350895347	1457	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532927215 CA2152493	1457	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746765548 CA2152492	1459	P>A		No	ClinGen ExAC gnomAD
CA66688828 rs902423945	1461	N>Y		No	ClinGen TOPMed
rs201067731 CA2152491	1462	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350895262 rs1242181004	1462	I>V		No	ClinGen TOPMed
TCGA novel	1463	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350895235 rs1462692059	1463	T>R		No	ClinGen gnomAD
COSM210331 CA2152490 rs772002113	1467	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2152487 rs754662890	1477	V>I		No	ClinGen ExAC TOPMed gnomAD
rs867052466 CA66688790	1478	L>*		No	ClinGen Ensembl
rs748933014 CA350894935	1478	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1427553887 CA350894870	1480	A>G		No	ClinGen Ensembl
rs1253864744 CA350894865	1481	I>L		No	ClinGen TOPMed gnomAD
rs1215716304 CA350894833	1482	S>G		No	ClinGen gnomAD
rs1452438528 CA350894820	1483	R>G		No	ClinGen gnomAD
CA2152485 rs780525259	1487	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs956967319 CA66688770	1488	L>F		No	ClinGen TOPMed
TCGA novel	1489	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755743107 CA2152464	1493	M>T		No	ClinGen ExAC gnomAD
rs1328976494 CA350894411	1493	M>V		No	ClinGen gnomAD
CA2152463 rs746268124	1495	K>R		No	ClinGen ExAC gnomAD
CA2152462 rs781591748	1497	I>V		No	ClinGen ExAC gnomAD
CA350894148 rs1305656912	1504	I>M		No	ClinGen gnomAD
CA350894111 rs1428975430	1506	S>C		No	ClinGen gnomAD
TCGA novel	1506	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152461 rs757907783	1512	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1182712998 CA350893801	1518	D>G		No	ClinGen gnomAD
rs949450810 CA66688217	1521	V>I		No	ClinGen Ensembl
rs1249647044 CA350893659	1524	T>P		No	ClinGen gnomAD
TCGA novel	1530	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350893516 rs1260289635	1531	L>V		No	ClinGen gnomAD
CA2152454 rs750222694	1536	K>R		No	ClinGen ExAC gnomAD
CA2152453 rs528931854	1537	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs755224387 CA2152438	1539	P>T		No	ClinGen ExAC TOPMed gnomAD
rs754080055 CA2152437	1542	F>I		No	ClinGen ExAC gnomAD
rs766531778 CA2152436	1542	F>L		No	ClinGen ExAC gnomAD
rs1320218400 CA350893062	1547	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1551	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1552	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1552	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1565	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350892585 rs1374190857	1567	D>V		No	ClinGen gnomAD
TCGA novel	1576	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373747420 CA2152432	1578	Q>P		No	ClinGen ESP ExAC gnomAD
rs373747420 CA2152431	1578	Q>R		No	ClinGen ESP ExAC gnomAD
CA350892281 rs1448116272	1580	S>T		No	ClinGen gnomAD
CA350892244 rs1411629365	1582	V>I		No	ClinGen gnomAD
CA2152430 rs769331583	1583	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1586	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291351499 CA350892117	1588	R>K		No	ClinGen gnomAD
TCGA novel	1590	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207590555 CA350892055	1590	K>T		No	ClinGen gnomAD
TCGA novel	1591	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450608297 CA350890981	1591	R>H		No	ClinGen TOPMed gnomAD
rs773633155 CA66686000	1591	R>S		No	ClinGen Ensembl
CA66685949 rs1035805240	1594	N>I		No	ClinGen TOPMed
rs1200575500 CA350890928	1594	N>K		No	ClinGen TOPMed gnomAD
rs1574964381 CA350890915	1596	E>K		No	ClinGen Ensembl
rs756306980 CA2152417	1599	L>R		No	ClinGen ExAC
CA2152414 rs758323251	1604	S>C		No	ClinGen ExAC gnomAD
rs200904805 CA66685911	1605	V>L		No	ClinGen Ensembl
CA350890685 rs1445260313	1610	G>S		No	ClinGen TOPMed
TCGA novel	1611	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1612	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350890621 rs1370524417	1615	M>I		No	ClinGen TOPMed gnomAD
CA350890630 rs1428333977	1615	M>V		No	ClinGen gnomAD
CA2152388 rs760464594	1636	A>V		No	ClinGen ExAC gnomAD
rs868013734 CA66679783	1639	S>F		No	ClinGen Ensembl
CA2152385 rs762270418	1640	Q>R		No	ClinGen ExAC gnomAD
CA350889246 rs1559342557	1643	Q>R		No	ClinGen Ensembl
rs774530062 CA2152384	1654	E>Q		No	ClinGen ExAC gnomAD
CA350888927 rs1387208718	1656	T>A		No	ClinGen gnomAD
TCGA novel	1657	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411594092 CA350888860	1661	K>E		No	ClinGen gnomAD
rs764351547 CA2152364	1664	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs763244861 CA2152363	1665	E>G		No	ClinGen ExAC gnomAD
rs1192980526 CA350887804	1666	G>R		No	ClinGen gnomAD
rs1487586082 CA350887783	1667	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1205770346 CA350887680	1673	L>F		No	ClinGen gnomAD
CA66679439 rs775181626	1674	Q>H		No	ClinGen Ensembl
rs376235388 CA2152360 COSM1230455	1678	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
TCGA novel	1681	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1682	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152358 rs771229222	1683	R>K		No	ClinGen ExAC gnomAD
rs747195826 CA2152357	1684	T>A		No	ClinGen ExAC gnomAD
rs1292413811 CA350887431	1689	H>L		No	ClinGen gnomAD
rs778829341 CA2152356	1690	I>V		No	ClinGen ExAC gnomAD
CA350887404 rs1166506054	1691	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749026037 CA2152354	1695	M>I		No	ClinGen ExAC gnomAD
TCGA novel	1697	F>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152353 rs780172925 COSM1669831	1698	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs907098852 CA66679382	1698	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2152352 rs144438656	1704	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1705	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1707	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750002850 CA2152351	1708	I>V		No	ClinGen ExAC gnomAD
rs1559332357 CA350886912	1714	V>M		No	ClinGen Ensembl
CA2152332 rs745778168	1717	P>R		No	ClinGen ExAC gnomAD
TCGA novel	1726	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574825941 CA350886580	1728	R>Q		No	ClinGen Ensembl
rs752354696 CA2152326	1728	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373621721 CA2152324	1731	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2152323 rs754317740	1740	D>H		No	ClinGen ExAC gnomAD
rs760701397 CA2152321	1741	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1742	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1748	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350886106 rs1447870343	1750	Y>D		No	ClinGen TOPMed
rs1051058645 CA66678398	1751	H>R		No	ClinGen TOPMed gnomAD
CA350885946 rs1465956582	1758	Q>R		No	ClinGen gnomAD
CA350885880 rs1203991761	1762	L>I		No	ClinGen gnomAD
rs1399158147 CA350885776	1767	S>F		No	ClinGen TOPMed gnomAD
rs775483319 CA2152317	1768	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	1770	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1773	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478140628 CA350884715	1774	Q>L		No	ClinGen gnomAD
CA2152291 rs772770632	1775	Y>C		No	ClinGen ExAC gnomAD
rs1247994145 CA350884706	1775	Y>H		No	ClinGen gnomAD
rs771588074 CA2152290	1776	A>T		No	ClinGen ExAC gnomAD
CA2152289 rs186946750	1777	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2152287 rs768307383	1779	T>A		No	ClinGen ExAC gnomAD
rs376669940 CA2152286	1781	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1781	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781736640 CA2152282 CA350884620	1782	M>I		No	ClinGen ExAC gnomAD
CA2152284 rs553009362	1782	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2152283 rs553009362	1782	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs534775058 CA2152281	1784	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1574766749 CA350884560	1791	G>E		No	ClinGen Ensembl
rs1167168329 CA350884553	1793	D>N		No	ClinGen TOPMed
rs1414715963 CA350884532	1795	T>I		No	ClinGen gnomAD
CA350884512 rs1574766302	1799	F>V		No	ClinGen Ensembl
CA350884497 rs1479786679	1801	N>S		No	ClinGen gnomAD
rs771960098 CA2152273	1806	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1810	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1817	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232466168 CA350884369	1819	E>A		No	ClinGen gnomAD
CA350884338 rs1411197908	1823	R>S		No	ClinGen Ensembl
CA350884308 rs1340185682	1826	I>T		No	ClinGen TOPMed
TCGA novel	1828	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA66673349 rs1011936025	1829	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1831	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1838	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350884219 rs1196177662	1839	D>Y		No	ClinGen TOPMed
CA2152242 rs777101792	1843	D>G		No	ClinGen ExAC gnomAD
CA66673278 rs531402491	1850	P>S		No	ClinGen TOPMed
rs1411414230 CA350884123	1853	H>Y		No	ClinGen gnomAD
CA350884109 rs1298757497	1855	Q>*		No	ClinGen Ensembl
CA350884104 rs1162657198	1855	Q>H		No	ClinGen TOPMed gnomAD
rs747501109 CA2152240	1859	P>L		No	ClinGen ExAC gnomAD
TCGA novel	1860	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350884033 rs1176229476	1863	D>Y		No	ClinGen TOPMed
rs747307082 CA2152221	1864	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs772413995 CA2152219	1865	L>F		No	ClinGen ExAC gnomAD
CA2152217 rs778828886	1866	L>F		No	ClinGen ExAC gnomAD
CA2152218 rs778828886	1866	L>V		No	ClinGen ExAC gnomAD
rs1574659801 CA350883960	1869	S>R		No	ClinGen Ensembl
rs992403398 CA66670750	1873	T>N		No	ClinGen TOPMed
rs749501464 CA2152215	1877	K>E		No	ClinGen ExAC gnomAD
CA2152214 rs143865610	1878	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs926638730 CA66670738	1880	M>V		No	ClinGen TOPMed
CA350883775 rs1268725867	1886	D>H		No	ClinGen gnomAD
TCGA novel	1887	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195547009	1893	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2152193 rs142150744	1894	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA350883623 rs1480116316	1894	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA66670197 rs755456651	1897	K>T		No	ClinGen Ensembl
CA2152190 rs749300014	1905	S>G		No	ClinGen ExAC TOPMed gnomAD
CA350883459 rs1474613861	1907	D>N		No	ClinGen TOPMed
CA66670181 rs1803846	1910	Q>*		No	ClinGen gnomAD
rs1803846 CA350883430	1910	Q>K		No	ClinGen gnomAD
TCGA novel	1913	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777424858 CA2152186	1915	L>V		No	ClinGen ExAC gnomAD
CA350883316 rs1480930076	1926	V>F		No	ClinGen gnomAD
rs896265483 CA66669277 COSM210330	1930	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA350882980 rs1559263809	1930	R>W		No	ClinGen Ensembl
CA350882891 rs1450768726	1935	P>H		No	ClinGen gnomAD
rs767759851 CA2152175	1938	I>V		No	ClinGen ExAC gnomAD
rs762182366 CA2152174	1940	R>Q		No	ClinGen ExAC gnomAD
CA350882729 rs1437289142	1942	T>K		No	ClinGen TOPMed gnomAD
CA350882723 rs1437289142 COSM1017526	1942	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2152171 rs763067686	1944	E>Q		No	ClinGen ExAC gnomAD
CA350882673 rs1369009374	1944	E>V		No	ClinGen gnomAD
CA66669222 rs111532305	1945	S>P		No	ClinGen Ensembl
rs770119554 CA2152169	1946	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2152170 rs775516584	1946	T>S		No	ClinGen ExAC gnomAD
CA350882582 rs1052204696	1948	N>I		No	ClinGen TOPMed gnomAD
rs1052204696 CA66669186	1948	N>S		No	ClinGen TOPMed gnomAD
CA2152168 rs746061364	1951	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1963	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2152164 rs779019882	1969	S>T		No	ClinGen ExAC gnomAD
CA2152163 rs754946712	1970	S>G		No	ClinGen ExAC gnomAD
CA350882008 rs1376185843	1970	S>T		No	ClinGen TOPMed gnomAD
rs753443022 CA2152162	1972	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1298704074 COSM1017523 CA350881919	1975	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1483679207 CA350881916	1975	R>H		No	ClinGen TOPMed
rs779710378 CA2152161	1976	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2152159 rs200291597	1980	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2032190831 RCV001267951	1986	Q>*		No	ClinVar dbSNP
rs1387893497 CA350881809	1987	Q>E		No	ClinGen gnomAD

1 associated diseases with Q14669

[MIM: 617752]: Clark-Baraitser syndrome (CLABARS)

An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. {ECO:0000269|PubMed:27848077, ECO:0000269|PubMed:28251352}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly. {ECO:0000269|PubMed:27848077, ECO:0000269|PubMed:28251352}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q14669

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q14669

Functions

		Description
EC Number	2.3.2.26	Aminoacyltransferases
Subcellular Localization	Nucleus, nucleoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name	Definition
nuclear thyroid hormone receptor binding	Binding to a nuclear thyroid hormone receptor.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.

9 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	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 a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
negative regulation of double-strand break repair	Any process that stops, prevents or reduces the frequency, rate or extent of double-strand break repair.
negative regulation of histone H2A K63-linked ubiquitination	Any process that stops, prevents or reduces the frequency, rate or extent of histone H2A K63-linked ubiquitination.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
regulation of double-strand break repair	Any process that modulates the frequency, rate or extent of double-strand break repair.
regulation of embryonic development	Any process that modulates the frequency, rate or extent of embryonic development.
ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSNRPNNNPG	GSLRRSQRNT	AGAQPQDDSI	GGRSCSSSSA	VIVPQPEDPD	RANTSERQKT
70	80	90	100	110	120
GQVPKKDNSR	GVKRSASPDY	NRTNSPSSAK	KPKALQHTES	PSETNKPHSK	SKKRHLDQEQ
130	140	150	160	170	180
QLKSAQSPST	SKAHTRKSGA	TGGSRSQKRK	RTESSCVKSG	SGSESTGAEE	RSAKPTKLAS
190	200	210	220	230	240
KSATSAKAGC	STITDSSSAA	STSSSSSAVA	SASSTVPPGA	RVKQGKDQNK	ARRSRSASSP
250	260	270	280	290	300
SPRRSSREKE	QSKTGGSSKF	DWAARFSPKV	SLPKTKLSLP	GSSKSETSKP	GPSGLQAKLA
310	320	330	340	350	360
SLRKSTKKRS	ESPPAELPSL	RRSTRQKTTG	SCASTSRRGS	GLGKRGAAEA	RRQEKMADPE
370	380	390	400	410	420
SNQEAVNSSA	ARTDEAPQGA	AGAVGMTTSG	ESESDDSEMG	RLQALLEARG	LPPHLFGPLG
430	440	450	460	470	480
PRMSQLFHRT	IGSGASSKAQ	QLLQGLQASD	ESQQLQAVIE	MCQLLVMGNE	ETLGGFPVKS
490	500	510	520	530	540
VVPALITLLQ	MEHNFDIMNH	ACRALTYMME	ALPRSSAVVV	DAIPVFLEKL	QVIQCIDVAE
550	560	570	580	590	600
QALTALEMLS	RRHSKAILQA	GGLADCLLYL	EFFSINAQRN	ALAIAANCCQ	SITPDEFHFV
610	620	630	640	650	660
ADSLPLLTQR	LTHQDKKSVE	STCLCFARLV	DNFQHEENLL	QQVASKDLLT	NVQQLLVVTP
670	680	690	700	710	720
PILSSGMFIM	VVRMFSLMCS	NCPTLAVQLM	KQNIAETLHF	LLCGASNGSC	QEQIDLVPRS
730	740	750	760	770	780
PQELYELTSL	ICELMPCLPK	EGIFAVDTML	KKGNAQNTDG	AIWQWRDDRG	LWHPYNRIDS
790	800	810	820	830	840
RIIEQINEDT	GTARAIQRKP	NPLANSNTSG	YSESKKDDAR	AQLMKEDPEL	AKSFIKTLFG
850	860	870	880	890	900
VLYEVYSSSA	GPAVRHKCLR	AILRIIYFAD	AELLKDVLKN	HAVSSHIASM	LSSQDLKIVV
910	920	930	940	950	960
GALQMAEILM	QKLPDIFSVY	FRREGVMHQV	KHLAESESLL	TSPPKACTNG	SGSMGSTTSV
970	980	990	1000	1010	1020
SSGTATAATH	AAADLGSPSL	QHSRDDSLDL	SPQGRLSDVL	KRKRLPKRGP	RRPKYSPPRD
1030	1040	1050	1060	1070	1080
DDKVDNQAKS	PTTTQSPKSS	FLASLNPKTW	GRLSTQSNSN	NIEPARTAGG	SGLARAASKD
1090	1100	1110	1120	1130	1140
TISNNREKIK	GWIKEQAHKF	VERYFSSENM	DGSNPALNVL	QRLCAATEQL	NLQVDGGAEC
1150	1160	1170	1180	1190	1200
LVEIRSIVSE	SDVSSFEIQH	SGFVKQLLLY	LTSKSEKDAV	SREIRLKRFL	HVFFSSPLPG
1210	1220	1230	1240	1250	1260
EEPIGRVEPV	GNAPLLALVH	KMNNCLSQME	QFPVKVHDFP	SGNGTGGSFS	LNRGSQALKF
1270	1280	1290	1300	1310	1320
FNTHQLKCQL	QRHPDCANVK	QWKGGPVKID	PLALVQAIER	YLVVRGYGRV	REDDEDSDDD
1330	1340	1350	1360	1370	1380
GSDEEIDESL	AAQFLNSGNV	RHRLQFYIGE	HLLPYNMTVY	QAVRQFSIQA	EDERESTDDE
1390	1400	1410	1420	1430	1440
SNPLGRAGIW	TKTHTIWYKP	VREDEESNKD	CVGGKRGRAQ	TAPTKTSPRN	AKKHDELWHD
1450	1460	1470	1480	1490	1500
GVCPSVSNPL	EVYLIPTPPE	NITFEDPSLD	VILLLRVLHA	ISRYWYYLYD	NAMCKEIIPT
1510	1520	1530	1540	1550	1560
SEFINSKLTA	KANRQLQDPL	VIMTGNIPTW	LTELGKTCPF	FFPFDTRQML	FYVTAFDRDR
1570	1580	1590	1600	1610	1620
AMQRLLDTNP	EINQSDSQDS	RVAPRLDRKK	RTVNREELLK	QAESVMQDLG	SSRAMLEIQY
1630	1640	1650	1660	1670	1680
ENEVGTGLGP	TLEFYALVSQ	ELQRADLGLW	RGEEVTLSNP	KGSQEGTKYI	QNLQGLFALP
1690	1700	1710	1720	1730	1740
FGRTAKPAHI	AKVKMKFRFL	GKLMAKAIMD	FRLVDLPLGL	PFYKWMLRQE	TSLTSHDLFD
1750	1760	1770	1780	1790	1800
IDPVVARSVY	HLEDIVRQKK	RLEQDKSQTK	ESLQYALETL	TMNGCSVEDL	GLDFTLPGFP
1810	1820	1830	1840	1850	1860
NIELKKGGKD	IPVTIHNLEE	YLRLVIFWAL	NEGVSRQFDS	FRDGFESVFP	LSHLQYFYPE
1870	1880	1890	1900	1910	1920
ELDQLLCGSK	ADTWDAKTLM	ECCRPDHGYT	HDSRAVKFLF	EILSSFDNEQ	QRLFLQFVTG
1930	1940	1950	1960	1970	1980
SPRLPVGGFR	SLNPPLTIVR	KTFESTENPD	DFLPSVMTCV	NYLKLPDYSS	IEIMREKLLI
1990
AAREGQQSFH	LS