AiPD: Autoinhibited Protein Database

Q8IZQ8

Gene name	MYOCD (MYCD)
Protein name	Myocardin
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:93649
EC number
Protein Class	MYOCARDIN-RELATED TRANSCRIPTION FACTOR-RELATED (PTHR22793)

Descriptions

Myocardin (MYOCD) is a transcriptional co-activator that promotes cardiac or smooth muscle gene programs through its interaction with myocyte-enhancing factor (MEF2) or serum-response factor (SRF). Isoforms of MYOCD with a truncated amino terminus show increased activity when compared with those with the full-length amino terminus. The cardiac-specific amino terminus acted in an autoinhibitory fashion to bind MYOCD via specific negatively charged residues and thereby repressed SRF-dependent MYOCD activity. Deletion of N-terminal MDH domain or mutagenesis of the residues within the domain disrupts autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	700-938 (TAD domain)
Relief mechanism	Others
Assay	Deletion assay, Mutagenesis experiment

AID

1-149 (MHD domain and linker)

Target domain

700-938 (TAD domain)

Relief mechanism

Others (D130A and E135A mutations)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Ransom JF et al. (2008) "A rare human sequence variant reveals myocardin autoinhibition", The Journal of biological chemistry, 283, 35845-52

Autoinhibited structure

Activated structure

1 structures for Q8IZQ8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZQ8-F1	Predicted				AlphaFoldDB

906 variants for Q8IZQ8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1597782599 RCV000984630 RCV000850243 CA398243513	115	R>*	Prune belly syndrome Megabladder, congenital [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083482	115	R>del	MGBL; loss of function in transcriptional activation [UniProt]	Yes	UniProt
rs760792013 RCV000850242	229	S>missing	Prune belly syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000984631 RCV000850244 rs1597802479	351	N>missing	Prune belly syndrome Megabladder, congenital [ClinVar]	Yes	ClinVar dbSNP
CA249969 rs137939966 RCV002247560 RCV000162186	418	I>V	Intellectual disability [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA398204528 rs1597809206 VAR_083483 RCV000850242	530	E>G	Prune belly syndrome MGBL; unknown pathological significance; decreased function in transcriptional activation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs193920964 RCV000149360	845	K>missing	Malignant tumor of prostate [ClinVar]	Yes	ClinVar dbSNP
rs1234197991 CA398242728	2	T>I		No	ClinGen TOPMed gnomAD
rs372817783 CA8399186	3	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201591716 CA398242748	6	S>A		No	ClinGen TOPMed
CA398242750 rs1427792254	6	S>C		No	ClinGen gnomAD
rs1201591716 CA398242746	6	S>T		No	ClinGen TOPMed
CA8399187 rs769230858	7	E>D		No	ClinGen ExAC gnomAD
rs1464406770 CA398242753	7	E>K		No	ClinGen TOPMed gnomAD
rs1268429803 CA398242762	8	H>P		No	ClinGen TOPMed
rs1019405607 CA288429861	11	L>M		No	ClinGen TOPMed
CA398242793 rs1330365922	13	R>K		No	ClinGen gnomAD
CA398242801 rs890255262	14	S>N		No	ClinGen TOPMed gnomAD
CA398242804 rs1435042772	14	S>R		No	ClinGen gnomAD
CA288429864 rs890255262	14	S>T		No	ClinGen TOPMed gnomAD
CA398242812 rs1275380157	15	K>N		No	ClinGen gnomAD
CA398242823 rs1216640234	17	R>K		No	ClinGen gnomAD
CA398242880 rs1364797271	23	R>G		No	ClinGen TOPMed
COSM294597	23	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	25	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs942699287 CA288454799	25	Q>K		No	ClinGen Ensembl
CA398242903 rs1216549408	26	Q>R		No	ClinGen TOPMed gnomAD
rs770602844 CA8399210	28	R>G		No	ClinGen ExAC TOPMed gnomAD
CA398242925 rs1166766770	29	T>S		No	ClinGen TOPMed
rs774007025 CA8399211	31	E>K		No	ClinGen ExAC gnomAD
CA398242944 rs1185848227	32	Q>*		No	ClinGen gnomAD
CA8399212 rs760952453	35	N>D		No	ClinGen ExAC gnomAD
rs1271649704 CA398242985	38	I>K		No	ClinGen TOPMed
rs1478090777 CA398242983	38	I>V		No	ClinGen TOPMed
TCGA novel	39	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373046978 CA8399213	40	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776845653 CA8399214	41	P>S		No	ClinGen ExAC TOPMed gnomAD
rs937195609 CA288463396	42	L>M		No	ClinGen TOPMed
CA8399234 rs148520894	44	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs78520788 CA8399237	44	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78520788 CA8399236	44	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8399235 rs148520894	44	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399238 rs376166018	46	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA398243038 rs1319301690	46	A>P		No	ClinGen gnomAD
COSM3889305 COSM3889306	47	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368448973 CA8399239	49	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253685077 CA398243098	54	H>Y		No	ClinGen TOPMed
rs151225315 CA8399240	55	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	56	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399242 rs752522935	59	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201202686 CA8399253	63	S>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM1686248 rs201202686 COSM1686249 CA398243179	63	S>F	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA398243183 rs1217114316	64	L>P		No	ClinGen TOPMed
rs1421233640 CA398243186	65	K>E		No	ClinGen gnomAD
CA8399255 rs372478735 COSM3969820 COSM3969819	66	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs574088661 CA8399256	66	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771322950 CA8399257	68	A>T		No	ClinGen ExAC gnomAD
COSM1520602 COSM975573	72	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288464477 rs529531835	72	C>G		No	ClinGen Ensembl
rs1456510665 CA398243234	72	C>Y		No	ClinGen gnomAD
rs1293015128 CA398243240	73	N>D		No	ClinGen TOPMed gnomAD
CA398243250 rs1407276528	74	S>N		No	ClinGen gnomAD
CA398243254 rs759496322	74	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	75	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399261 rs114839607 RCV000947769	76	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA288464491 rs760467742	78	V>I		No	ClinGen ExAC gnomAD
rs760467742 CA8399262	78	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763934435 CA8399263	79	N>S		No	ClinGen ExAC gnomAD
CA398243286 rs958082210	80	M>L		No	ClinGen TOPMed gnomAD
CA398243289 rs1490356013	80	M>T		No	ClinGen gnomAD
rs958082210 CA288464497	80	M>V		No	ClinGen TOPMed gnomAD
rs753607516 CA8399264	83	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1260852053 CA398243321	84	Q>H		No	ClinGen gnomAD
TCGA novel	84	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750257345 CA8399284	86	S>P		No	ClinGen ExAC gnomAD
rs902707138 CA288467910	87	T>A		No	ClinGen TOPMed
rs1243908202 CA398243350	87	T>I		No	ClinGen gnomAD
rs751096853 CA8399287	88	A>E		No	ClinGen ExAC
CA8399286 rs200707064	88	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751096853 CA8399288	88	A>V		No	ClinGen ExAC
COSM1147732 COSM704996	89	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA398243362 rs1420818848	90	R>G		No	ClinGen gnomAD
rs1420818848 CA398243363	90	R>W		No	ClinGen gnomAD
rs200250337 CA8399290	92	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8399291 rs200250337	92	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357817552 CA398243382	93	P>S		No	ClinGen gnomAD
TCGA novel	93	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779479500 CA398243386	94	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8399292 rs779479500	94	T>P		No	ClinGen ExAC TOPMed gnomAD
rs373386419 CA8399294	95	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA398243395 rs1172563404	95	A>V		No	ClinGen TOPMed
CA8399295 rs780146999	96	Q>H		No	ClinGen ExAC gnomAD
COSM3514205 CA288467937 COSM3514204 COSM3514203 rs867825202	97	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA
TCGA novel	97	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA288467929 rs1017916871	97	M>V		No	ClinGen TOPMed
rs541869349 CA8399296	98	K>M		No	ClinGen 1000Genomes ExAC gnomAD
COSM1324163 COSM1324164	98	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1216472 CA8399297 COSM1216471 rs201398208	103	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA8399298 COSM1189408 COSM1189409 rs776773186	104	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs140993526 CA8399299	105	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399303 rs369590573	106	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs762850197 CA8399302	106	D>G		No	ClinGen ExAC gnomAD
rs773042903 CA8399301	106	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8399304 rs751148214 COSM3514206 COSM3514208 COSM3514207	107	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs767292644 CA8399306	109	N>S		No	ClinGen ExAC gnomAD
COSM5385699 COSM5385701 COSM5385700	110	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs918313725 CA288468042	111	K>N		No	ClinGen TOPMed
rs1177590463 CA398243492	111	K>Q		No	ClinGen gnomAD
rs755787732 CA8399308	112	I>M		No	ClinGen ExAC gnomAD
TCGA novel	112	I>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs779203700 CA8399309	113	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8399310 rs750768295	114	L>V		No	ClinGen ExAC gnomAD
rs758932814 CA8399311	115	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758932814 COSM3514209 COSM2737710 CA398243514 COSM2737709	115	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA398243516 rs780489097	116	P>S		No	ClinGen ExAC gnomAD
CA8399312 rs780489097	116	P>T		No	ClinGen ExAC gnomAD
CA8399315 rs781324072	118	P>A		No	ClinGen ExAC gnomAD
CA398243528 rs781324072	118	P>S		No	ClinGen ExAC gnomAD
CA398243541 rs1310611210	120	E>G		No	ClinGen TOPMed
CA8399319 rs749054468	122	V>A		No	ClinGen ExAC gnomAD
CA288468108 rs772925641	122	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772925641 CA8399318	122	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM3514213 COSM1709942 CA288468115 rs267604740 COSM1709943	123	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
CA398243563 rs1373988700	124	K>T		No	ClinGen TOPMed
COSM5121758 COSM5121756 rs1567587048 COSM5121757	125	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
COSM975574 COSM1588632	125	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel rs771017475 CA8399320	125	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1438476098 CA398243582	127	L>I		No	ClinGen gnomAD
COSM704995 COSM1147733	127	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	128	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373364614 CA8399321	128	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4937764 COSM4937763 COSM4937762	129	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759124129 CA8399322	129	V>M		No	ClinGen ExAC TOPMed gnomAD
CA398243601 rs1395139047	130	D>A		No	ClinGen TOPMed gnomAD
CA398243625 rs1467281620	134	K>E		No	ClinGen TOPMed
rs1375533261 CA398243632	135	E>K		No	ClinGen TOPMed
TCGA novel	136	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398243650 rs1174759759	137	I>T		No	ClinGen TOPMed
CA398243653 rs1455565705	138	K>Q		No	ClinGen gnomAD
rs1200664875 CA398243657	138	K>R		No	ClinGen gnomAD
rs201947611 CA8399324	139	G>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM3514217 COSM1733056 COSM1733055	139	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766783225 CA8399346	140	N>Y		No	ClinGen ExAC gnomAD
CA288478681 rs973423357	141	Q>E		No	ClinGen Ensembl
CA288478686 rs575887022	142	V>M		No	ClinGen TOPMed gnomAD
CA288478688 rs969177942	145	S>P		No	ClinGen Ensembl
rs755521955 CA8399348	145	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1202336597 CA398243734	148	T>A		No	ClinGen TOPMed
rs138416805 CA8399349	148	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3514219 COSM3514220 COSM3514218	149	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3818834 COSM3818836 COSM3818835	150	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399351 COSM3889310 COSM3889312 rs756163272 COSM3889311	155	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1352143428 CA398243794	156	D>G		No	ClinGen gnomAD
COSM3514221 COSM3514223 COSM3514222	156	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1310864258 CA398243799	157	S>G		No	ClinGen TOPMed
COSM6146092 COSM6146091 COSM6146090	160	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399353 rs778124248	160	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8399354 COSM3514226 COSM3514225 COSM3514224 rs757539762	161	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1052786739 CA288478721	161	G>R		No	ClinGen Ensembl
rs914879481 CA288478741	162	L>H		No	ClinGen gnomAD
rs200895228 CA8399355	164	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1443539157 CA398243846	164	P>S		No	ClinGen gnomAD
CA8399357 rs771925728	166	Q>E		No	ClinGen ExAC gnomAD
COSM4705124 COSM181052 COSM4705123 CA398243870 rs1157881092	168	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
CA8399359 rs372928138	168	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372928138 CA8399360	168	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399358 rs372928138 COSM3514228 COSM245900 COSM3514229	168	R>Q	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs148826320 CA8399361	169	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402166116 CA398243872	169	S>R		No	ClinGen gnomAD
rs1597793584 CA398243890	171	D>A		No	ClinGen Ensembl
rs761497975 CA8399362	172	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761497975 CA398243896	172	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM6080536 COSM6080535 COSM6080534	172	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1597793604 CA398243911	174	N>T		No	ClinGen Ensembl
rs1453556592 CA398243918	175	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA288478805 rs777980537	175	S>P		No	ClinGen Ensembl
rs375719397 CA8399364	176	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767925734 CA8399366 COSM2737722 COSM2737721 COSM3514230	178	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
CA398243934 rs1238996169	178	S>P		No	ClinGen gnomAD
CA288478837 rs1051971711	179	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM3514232 COSM3514233 COSM3514231	179	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM975577 COSM1153024	179	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1276146054 CA398243946	180	P>L		No	ClinGen gnomAD
rs368720240 CA398243954	181	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM5013111 COSM5013110 rs764293311 COSM5013109 CA8399368	182	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1437239210 CA398243959	182	A>V		No	ClinGen gnomAD
CA288478863 rs1015597321	183	K>I		No	ClinGen Ensembl
COSM3514236 COSM3514234 COSM3514235	184	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs963317206 CA288478888	184	A>V		No	ClinGen Ensembl
COSM71767	185	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399371 rs779226555	186	D>Y		No	ClinGen ExAC gnomAD
CA398243991 rs1256218361	187	T>I		No	ClinGen TOPMed
COSM2737724 rs144123101 CA8399372 COSM2737723 COSM3421298	189	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA288478906 rs994824541	189	S>P		No	ClinGen TOPMed
rs1390833796 CA398244011	191	G>A		No	ClinGen gnomAD
rs779705514 CA8399374	191	G>S		No	ClinGen ExAC gnomAD
rs747021728 CA288478927	192	S>F		No	ClinGen ExAC gnomAD
rs747021728 CA8399375	192	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs927781263 CA288478942	194	G>E		No	ClinGen Ensembl
COSM1709952 COSM3514237 COSM1709953	194	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs960753964 CA288478951	195	T>A		No	ClinGen TOPMed
TCGA novel	197	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399378 rs373052964	197	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288087315 CA398244065	199	L>F		No	ClinGen TOPMed
TCGA novel	199	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398244070 rs1163525016	199	L>P		No	ClinGen gnomAD
CA398244071 rs1366722239	200	A>T		No	ClinGen gnomAD
COSM6080533 COSM6080531 COSM6080532	203	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1407219641 CA398244095	204	E>K		No	ClinGen gnomAD
TCGA novel	209	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770468393 CA8399402	210	S>P		No	ClinGen ExAC gnomAD
rs747298000 CA8399404	211	A>V		No	ClinGen ExAC TOPMed gnomAD
CA398244153 rs1340263678	212	S>P		No	ClinGen TOPMed
CA8399405 rs769297960	219	D>H		No	ClinGen ExAC TOPMed gnomAD
CA288481302 rs769297960	219	D>N		No	ClinGen ExAC TOPMed gnomAD
rs139284512 CA8399406	220	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773138685 CA8399409	221	G>A		No	ClinGen ExAC TOPMed gnomAD
rs773138685 CA398244215	221	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM5385704 COSM5385703 COSM5385702 CA8399408 rs765470716	221	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA Cosmic
TCGA novel	224	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4922423 CA8399410 rs763274360 COSM4922422 COSM4922421	225	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1418893390 CA398244248	226	G>A		No	ClinGen gnomAD
rs143208611 CA8399414	227	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399415 rs767451504	227	P>H		No	ClinGen ExAC TOPMed gnomAD
rs767451504 CA398244251	227	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8399413 rs143208611	227	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA398244257 rs1183062953	228	P>R		No	ClinGen TOPMed gnomAD
COSM1380943 COSM1380942 COSM4611004	229	S>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756033145 CA8399417	229	S>I		No	ClinGen ExAC TOPMed gnomAD
rs760792013 COSM5120795 COSM5120794 COSM5120793	229	S>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
CA398244261 rs1597796101	229	S>R		No	ClinGen Ensembl
CA8399419 rs748718627	230	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8399418 rs267604741	230	T>P		No	ClinGen ExAC gnomAD
rs200211655 CA288481345	232	I>T		No	ClinGen Ensembl
rs139286057 CA8399420	232	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375548017 CA8399422	233	A>D		No	ClinGen ESP ExAC gnomAD
CA398244285 rs375548017	233	A>V		No	ClinGen ESP ExAC gnomAD
rs777122052 CA8399424	234	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1382818006 CA398244311	238	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	239	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1418859680 CA398244349	241	K>R		No	ClinGen TOPMed
rs1173196015 CA398244356	242	S>Y		No	ClinGen TOPMed
CA398244369 rs1478326717	244	G>D		No	ClinGen TOPMed
rs952696380 CA288485542	245	D>E		No	ClinGen TOPMed
rs749393625 CA8399445	245	D>N		No	ClinGen ExAC gnomAD
rs1481233135 CA398244379	246	S>G		No	ClinGen TOPMed gnomAD
rs770987548 CA8399446	246	S>R		No	ClinGen ExAC gnomAD
rs984062271 CA288485587	249	R>C		No	ClinGen TOPMed gnomAD
CA398244403 rs1480273905	249	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774480597 CA8399447	252	K>M		No	ClinGen ExAC TOPMed
CA398244426 rs774480597 COSM1236087 COSM1236088	252	K>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA398244434 rs1271714355	253	P>L		No	ClinGen TOPMed
rs759803499 CA8399448	254	K>R		No	ClinGen ExAC TOPMed gnomAD
rs772250546 CA8399449	255	D>N		No	ClinGen ExAC gnomAD
rs1326247814 CA398244453	256	P>R		No	ClinGen gnomAD
CA398244449 rs1415751640	256	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	258	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399451 rs760414580	259	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1021430357 CA288485612	260	V>L		No	ClinGen TOPMed
CA288485620 rs753783782	267	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA8399453 rs753783782	267	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA288485635 rs776680788	270	P>A		No	ClinGen TOPMed gnomAD
CA288485637 rs776680788	270	P>S		No	ClinGen TOPMed gnomAD
COSM1380944 COSM1380945 COSM5131100	271	P>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	272	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749918893 CA8399456	273	Q>K		No	ClinGen ExAC gnomAD
rs1416174236 CA398244583	275	A>S		No	ClinGen TOPMed
COSM3514248 COSM3514246 COSM3514247	275	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM975578 COSM1588630	276	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs949528816 CA288485661	276	E>Q		No	ClinGen Ensembl
rs758150933 CA8399457	277	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1207248945 CA398244606	278	S>F		No	ClinGen gnomAD
CA8399459 rs753122556	279	P>A		No	ClinGen ExAC gnomAD
COSM3514252 COSM3514253 COSM3514254	279	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3514256 COSM3514255 COSM3514257	280	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1490304871 CA398244612	280	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA288485679 rs796699421	281	P>S		No	ClinGen Ensembl
TCGA novel	282	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs199970144 CA8399461	282	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8399463 rs771450348	285	A>D		No	ClinGen ExAC gnomAD
CA8399462 rs749822428	285	A>P		No	ClinGen ExAC gnomAD
CA8399465 rs745908467	287	A>S		No	ClinGen ExAC gnomAD
CA8399466 rs745908467	287	A>T		No	ClinGen ExAC gnomAD
COSM6080528 COSM6080529 COSM6080530	288	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399469 rs140013261	288	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760880564 CA8399468	288	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398244713 rs1184030059	296	F>L		No	ClinGen TOPMed
COSM4063993 COSM4063992 COSM4063991	297	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1362764668 CA398244731	298	Q>H		No	ClinGen TOPMed gnomAD
rs1597800816 CA398244743	300	Q>P		No	ClinGen Ensembl
rs762492692 CA8399474	302	L>R		No	ClinGen ExAC gnomAD
rs1567595543 CA398244760	303	S>G		No	ClinGen Ensembl
rs1359312940 CA398244779	305	Q>R		No	ClinGen gnomAD
TCGA novel	309	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399479 rs754649881	311	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM1380947 COSM1380946 COSM5828482	312	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1597800871 CA398244831	312	R>G		No	ClinGen Ensembl
rs374008798 CA8399480	312	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398244844 rs1189901076	314	S>G		No	ClinGen gnomAD
rs757736564 CA8399485	315	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs757736564 CA8399484	315	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs757736564 CA8399483	315	Y>S		No	ClinGen ExAC TOPMed gnomAD
COSM975581 COSM1153025	316	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399486 rs76490220	316	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1398678178 CA398244865	317	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1389222973 CA398244860	317	G>R		No	ClinGen TOPMed
rs1454387710 CA398244875	319	H>N		No	ClinGen gnomAD
rs1160331632 CA398244881	319	H>Q		No	ClinGen gnomAD
CA8399488 rs747243195	319	H>R		No	ClinGen ExAC gnomAD
TCGA novel	319	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1042299236 CA288485874	320	Q>E		No	ClinGen gnomAD
CA398244893 rs1161111871	321	A>G		No	ClinGen TOPMed
rs868553677 CA288485877	322	Q>*		No	ClinGen TOPMed
rs868553677 CA398244896	322	Q>K		No	ClinGen TOPMed
CA398244903 rs1406869077	323	L>V		No	ClinGen TOPMed
rs138967735 COSM110425 CA287992252 COSM4903362 COSM4903363	325	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
CA8399512 rs773131615 COSM3514263 COSM3514261 COSM3514262	328	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs893409621 CA287992283	329	Q>R		No	ClinGen TOPMed gnomAD
rs1311583716 CA398201236	330	M>I		No	ClinGen TOPMed gnomAD
rs376772447 CA8399513	331	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA398201252 rs1180938904	333	N>D		No	ClinGen gnomAD
CA398201263 rs1364197572	334	P>L		No	ClinGen gnomAD
CA287992306 rs1022941999	334	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA398201276 rs1297794451	336	S>F		No	ClinGen TOPMed
COSM4063995 COSM4063996 COSM4063994	338	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770965947 CA8399515	339	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770965947 CA8399514	339	T>R		No	ClinGen ExAC TOPMed gnomAD
CA398201310 rs1428849394	342	S>T		No	ClinGen gnomAD
COSM4063997 COSM4063998 COSM4063999	344	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399516 rs138137651	344	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM5900349 COSM5900350 COSM5900348 CA398201331 rs1394360964	345	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
CA398201330 rs1394360964	345	P>R		No	ClinGen gnomAD
rs1330057854 CA398201344	347	S>F		No	ClinGen TOPMed gnomAD
rs1352964856 CA398201340	347	S>P		No	ClinGen TOPMed gnomAD
COSM3514264 COSM3514266 COSM3514265	348	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1259284548 CA398201347	348	P>S		No	ClinGen TOPMed
CA398201359 rs1215485038	350	K>Q		No	ClinGen TOPMed
rs76990375 CA287992372	350	K>R		No	ClinGen Ensembl
rs760229836 CA8399519	351	N>S		No	ClinGen ExAC gnomAD
CA398201372 rs1490398247	352	S>G		No	ClinGen TOPMed
rs1293340916 CA398201375	352	S>T		No	ClinGen TOPMed
COSM3402607 COSM2150796 COSM2150795	354	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3514269 COSM3514268 COSM3514267	354	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	357	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3818837 rs766938453 COSM3818839 COSM3818838 CA287992384	358	G>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
CA398201414 rs766938453	358	G>S		No	ClinGen TOPMed
CA287992385 rs878899762	359	V>I		No	ClinGen Ensembl
CA398201447 rs750753749	361	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8399521 rs750753749	361	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763481289 CA8399522	364	P>S		No	ClinGen ExAC gnomAD
CA8399523 rs766817997	365	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM3889313 COSM3889315 COSM3889314	366	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751599966 CA8399524	366	P>S		No	ClinGen ExAC gnomAD
CA398201539 rs1483948895	367	L>F		No	ClinGen gnomAD
CA8399525 rs755014922	367	L>P		No	ClinGen ExAC gnomAD
CA398201608 rs1480897888	372	D>N		No	ClinGen gnomAD
COSM3514270 COSM3514271 COSM3514272	373	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs377140712 CA8399549	377	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8399550 rs778092202	381	Q>K		No	ClinGen ExAC gnomAD
rs778569527 COSM3514276 CA8399553 COSM1216476 COSM1216477	384	R>*	Variant assessed as Somatic; HIGH impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM1141044 COSM3421299 COSM559738 rs552203360 CA8399554	384	R>Q	lung Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs771872480 CA8399555	386	R>Q		No	ClinGen ExAC gnomAD
COSM5144674 COSM1242554 COSM1242553 rs1223487586 CA398203114	386	R>W	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1485651708 CA398203123	387	G>S		No	ClinGen gnomAD
CA398203148 rs1250016725	389	P>T		No	ClinGen gnomAD
CA8399557 rs746473719	393	T>A		No	ClinGen ExAC gnomAD
CA398203275 COSM3514279 COSM3514278 COSM3514277 rs1415143534	393	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
CA287997296 rs943300545	395	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	396	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774560419 CA8399562	398	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771382566 CA8399561	398	M>K		No	ClinGen ExAC gnomAD
rs747791727 CA8399560	398	M>L		No	ClinGen ExAC gnomAD
rs747791727 CA398203359	398	M>V		No	ClinGen ExAC gnomAD
rs1463715795 CA398203387	401	L>P		No	ClinGen TOPMed
COSM975586 COSM4263300 COSM1588627	402	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM975587 COSM1153026	402	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1371459311 CA398203408	403	P>H		No	ClinGen TOPMed
CA8399563 rs760130898	407	C>G		No	ClinGen ExAC gnomAD
rs1302596797 CA398203489	407	C>W		No	ClinGen gnomAD
CA8399565 rs775734775	408	S>F		No	ClinGen ExAC TOPMed gnomAD
rs767872561 CA8399564	408	S>P		No	ClinGen ExAC gnomAD
CA8399567 rs140165038	409	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs887323078 CA287997352	411	P>A		No	ClinGen Ensembl
COSM3736154 COSM3736153 CA8399568 rs200094820	412	V>L	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs757541827 CA8399570	413	P>L		No	ClinGen ExAC gnomAD
rs757541827 CA8399569	413	P>R		No	ClinGen ExAC gnomAD
COSM6146088 COSM6146087 COSM6146089	413	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA287997371 rs201634014	417	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs201634014 CA398203684	417	D>Y		No	ClinGen 1000Genomes TOPMed
rs1484513971 CA398203699	418	I>T		No	ClinGen gnomAD
CA8399573 rs746526856	419	T>A		No	ClinGen ExAC gnomAD
rs28730822 CA8399574	419	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747845006 CA8399576	422	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1413702195 CA398203775	423	F>S		No	ClinGen gnomAD
COSM3514282 COSM3514281 COSM3514280	424	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769301450 CA8399577	426	T>I		No	ClinGen ExAC gnomAD
COSM4939120 COSM4939122 COSM4939121	427	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA287997424 rs1002624356	428	N>D		No	ClinGen TOPMed gnomAD
rs774811410 CA8399578	428	N>S		No	ClinGen ExAC gnomAD
TCGA novel	429	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1481102952 CA398203851	429	T>M		No	ClinGen TOPMed gnomAD
rs746170448 CA8399579	429	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1481102952 CA398203850	429	T>R		No	ClinGen TOPMed gnomAD
COSM3514284 COSM3514285 COSM3514283	431	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA287997468 rs200253277	431	P>S		No	ClinGen 1000Genomes gnomAD
COSM1380948 COSM1380949 COSM5144675	433	Y>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399581 rs776076422	433	Y>H		No	ClinGen ExAC gnomAD
CA8399583 rs764329917	434	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1279452412 CA398203942	436	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8399584 rs776819203	438	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1232794148 CA398203964	440	S>N		No	ClinGen gnomAD
COSM3969825 COSM3969826 COSM3969824	440	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200265098 CA398203991	444	N>K		No	ClinGen ExAC TOPMed gnomAD
CA398203989 rs1567599508	444	N>S		No	ClinGen Ensembl
rs115035111 CA8399588	445	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1190230722 CA398204017	448	H>P		No	ClinGen gnomAD
rs139300486 CA8399591	452	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567599531 CA398204046	452	T>N		No	ClinGen Ensembl
CA398204044 rs139300486	452	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399592 rs372519617	453	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399593 rs372519617	453	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755814477 CA8399594	454	S>A		No	ClinGen ExAC TOPMed gnomAD
rs755814477 CA8399595	454	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8399596 rs746252612	454	S>Y		No	ClinGen ExAC gnomAD
CA287997593 rs201880384 CA398204064	455	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1323481986 CA398204066	456	P>A		No	ClinGen TOPMed
rs1369886655 CA398204068	456	P>H		No	ClinGen TOPMed gnomAD
CA398204069 rs1369886655	456	P>R		No	ClinGen TOPMed gnomAD
rs933064502 CA287997608	457	P>L		No	ClinGen Ensembl
COSM1380950 COSM1380951 COSM4705137	457	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	458	I>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA398204077 rs1272969613	458	I>V		No	ClinGen gnomAD
rs1597808846 CA398204084	459	S>P		No	ClinGen Ensembl
TCGA novel	460	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398204096 rs1207855421	461	A>P		No	ClinGen TOPMed gnomAD
COSM3514290 COSM3514291 COSM3514289	463	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776870551 CA8399601	464	D>H		No	ClinGen ExAC gnomAD
rs531377746 CA8399604	468	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3969827 rs531377746 COSM1380952 COSM245901 CA8399603	468	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8399605 rs763223346	468	A>V		No	ClinGen ExAC gnomAD
rs149968263 CA8399606	472	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1450031224 CA398204175	474	T>I		No	ClinGen gnomAD
rs1450031224 CA398204173	474	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	475	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398204180 rs1170374634	475	F>S		No	ClinGen gnomAD
CA398204188 rs1363496104	476	N>S		No	ClinGen TOPMed gnomAD
COSM1147737 COSM704987	477	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399609 rs767394473	479	S>C		No	ClinGen ExAC TOPMed gnomAD
COSM3514292 COSM3514294 COSM3514293	479	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376323244 CA8399613	480	P>H		No	ClinGen ESP ExAC gnomAD
rs376323244 CA8399612	480	P>R		No	ClinGen ESP ExAC gnomAD
rs755516992 CA8399611	480	P>S		No	ClinGen ExAC gnomAD
CA287997735 rs148120163	481	S>P		No	ClinGen ESP TOPMed
COSM1380954 COSM1380953 COSM4705138	481	S>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	483	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1380956 COSM1380955 RCV000879144 rs28730823 CA8399617	483	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs887082292 CA287997755	484	L>P		No	ClinGen TOPMed gnomAD
CA398204248 rs868390017	486	P>L		No	ClinGen gnomAD
rs868390017 CA287997761	486	P>R		No	ClinGen gnomAD
rs1290198962 CA398204246	486	P>S		No	ClinGen gnomAD
rs1290198962 CA398204244	486	P>T		No	ClinGen gnomAD
CA8399620 rs367926651	489	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA398204261 rs367926651	489	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771103686 CA8399623	491	V>A		No	ClinGen ExAC gnomAD
rs149104165 CA8399622	491	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774155323 CA8399625	493	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8399624 rs774155323 COSM124638	493	T>M	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA287997856 rs1031444549	495	E>G		No	ClinGen Ensembl
COSM3514297 COSM3514295 COSM3514296	495	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763564468 CA8399629	496	S>G		No	ClinGen ExAC gnomAD
rs267604744 CA287997878	498	M>I		No	ClinGen Ensembl
rs1437352065 CA398204320	498	M>L		No	ClinGen gnomAD
CA398204329 rs1452007386	499	S>N		No	ClinGen TOPMed
rs1335399556 CA398204335	500	S>G		No	ClinGen gnomAD
CA398204345 rs1246050825	501	L>P		No	ClinGen gnomAD
COSM3514299 COSM3514298 COSM3514300	503	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751973780 CA8399633	504	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8399634 rs751973780	504	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	506	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3514304 COSM3514306 COSM3514305	507	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756612575 CA8399637	507	P>R		No	ClinGen ExAC TOPMed gnomAD
rs548285922 CA8399636	507	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8399638 rs373772317	508	S>F		No	ClinGen ESP ExAC TOPMed
TCGA novel	509	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398204387 rs1214423411	509	E>Q		No	ClinGen gnomAD
rs199684025 CA8399640	511	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441789612 CA398204403	511	D>G		No	ClinGen gnomAD
CA398204399 rs1386713937	511	D>N		No	ClinGen TOPMed
rs1021579937 CA287997940	512	G>R		No	ClinGen gnomAD
TCGA novel	514	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1709957 CA398204428 COSM1709956 rs1412969455	515	S>F	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
CA8399642 rs746089376	515	S>P		No	ClinGen ExAC gnomAD
CA8399644 COSM3514309 rs146033223 COSM3514307 COSM3514308	516	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
CA8399645 rs139953402	518	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764041095 CA8399646	519	K>R		No	ClinGen ExAC gnomAD
CA8399647 rs776014540	520	M>I		No	ClinGen ExAC gnomAD
CA398204461 rs1336645527	520	M>K		No	ClinGen gnomAD
rs1191119382 CA398204460	520	M>L		No	ClinGen gnomAD
rs761336066 CA8399648	523	E>A		No	ClinGen ExAC gnomAD
COSM1380957 COSM1380958 COSM5173106	524	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1031765385 CA287998029	526	K>M		No	ClinGen TOPMed
CA8399649 rs764830809	526	K>N		No	ClinGen ExAC gnomAD
rs1223723153 CA398204509	527	V>A		No	ClinGen TOPMed
rs550499421 CA8399651	527	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8399652 rs767810774	529	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1289877453 CA398204521	529	N>S		No	ClinGen TOPMed
rs867672726 CA287998073	530	E>*		No	ClinGen Ensembl
COSM1725515 COSM3514310 COSM1725514	533	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1030013587 CA287998102	536	Q>H		No	ClinGen gnomAD
CA398204572 rs1280631401	536	Q>R		No	ClinGen gnomAD
CA287998112 rs571852365	538	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8399657 rs571852365	538	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199620653 CA8399658	542	V>G		No	ClinGen ExAC gnomAD
rs772254215 CA8399660	543	E>G		No	ClinGen ExAC gnomAD
CA8399662 rs200734685	547	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA398204678 rs1394925706	551	K>R		No	ClinGen TOPMed gnomAD
rs1297435113 CA398204691	553	K>E		No	ClinGen TOPMed
rs1429564009 CA398204700	554	R>K		No	ClinGen gnomAD
rs1429564009 CA398204702	554	R>T		No	ClinGen gnomAD
rs954421100 CA287998158	556	N>D		No	ClinGen gnomAD
CA8399664 rs776693073	557	C>R		No	ClinGen ExAC gnomAD
rs1298663989 CA398204722	557	C>Y		No	ClinGen gnomAD
CA8399669 rs772816688	562	P>A		No	ClinGen ExAC TOPMed gnomAD
rs553893165 COSM1588626 COSM975588 CA8399670	562	P>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs553893165 CA8399671	562	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8399668 rs772816688	562	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM6080527 COSM6080526 COSM6080525	563	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	565	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868291408 CA287998267	567	A>T		No	ClinGen Ensembl
rs1266929711 CA398204806	570	I>M		No	ClinGen gnomAD
CA287998308 rs554718223	571	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8399674 rs754400804	571	K>R		No	ClinGen ExAC gnomAD
rs145578429 CA8399676	572	Q>R		No	ClinGen ESP ExAC gnomAD
COSM4405276 COSM4405274 COSM4405275	573	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA398204847 rs1597809393	576	V>A		No	ClinGen Ensembl
rs1449423929 CA398204842	576	V>F		No	ClinGen gnomAD
rs1169707835 CA398204855	578	S>G		No	ClinGen gnomAD
rs750466262 CA8399677	578	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1169707835 CA398204854	578	S>R		No	ClinGen gnomAD
CA398204858 rs1597809408	578	S>T		No	ClinGen Ensembl
CA8399678 rs758560421	579	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1597809448 CA398204878	580	P>L		No	ClinGen Ensembl
rs1597809443 CA398204876	580	P>S		No	ClinGen Ensembl
rs747188885 CA8399680 COSM3514314 COSM3514316 COSM3514315	583	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA8399681 rs377161095	584	Q>R		No	ClinGen ESP ExAC gnomAD
rs572077924 CA8399682	586	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA398204944 rs1378346935	587	V>L		No	ClinGen Ensembl
COSM3818842 COSM3818841 COSM3818840	589	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399683 rs748136721	592	S>G		No	ClinGen ExAC gnomAD
rs1234097412 CA398205023	593	S>I		No	ClinGen TOPMed gnomAD
rs762496766 CA8399686	594	S>L		No	ClinGen ExAC gnomAD
CA287998397 COSM3514319 rs538701790 COSM3514318 COSM3514317	595	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
CA8399689 rs368297280	597	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398205069 rs1189841868	597	H>P		No	ClinGen gnomAD
CA398205070 rs1189841868	597	H>R		No	ClinGen gnomAD
rs368297280 CA8399688	597	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200608681 CA8399690	599	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM6080524 COSM6080523 rs1392561541 CA398205085 COSM559736 COSM6080522 COSM1141046	599	P>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	599	P>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs369369179 CA8399692	600	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200828842 CA8399694	601	C>F		No	ClinGen ExAC gnomAD
rs148450760 CA8399693	601	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758568828 CA8399696	602	E>G		No	ClinGen ExAC gnomAD
rs758568828 CA8399695	602	E>V		No	ClinGen ExAC gnomAD
CA8399699 rs781164535	603	A>D		No	ClinGen ExAC
CA8399698 rs755123981	603	A>T		No	ClinGen ExAC
rs781164535 CA8399700	603	A>V		No	ClinGen ExAC
CA398205134 rs1321220190	604	A>P		No	ClinGen gnomAD
CA398205145 rs1567600162	605	Q>K		No	ClinGen Ensembl
CA8399702 rs777788384	605	Q>P		No	ClinGen ExAC
CA287998567 rs894602874	606	L>V		No	ClinGen TOPMed gnomAD
COSM3514321 COSM3514322 COSM3514320	607	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1311776208 CA398205182	608	P>H		No	ClinGen gnomAD
CA398205185 rs1311776208	608	P>L		No	ClinGen gnomAD
COSM3514323 COSM3514325 COSM3514324	610	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149000142 CA287998573 COSM109818	610	G>R	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes
CA8399704 rs770532458	612	A>V		No	ClinGen ExAC TOPMed gnomAD
CA398205236 rs1053162204	613	H>D		No	ClinGen gnomAD
rs773713200 CA8399705	613	H>L		No	ClinGen ExAC TOPMed gnomAD
rs773713200 CA398205239	613	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1053162204 CA287998585	613	H>Y		No	ClinGen gnomAD
CA8399707 rs577072079	615	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777004853 CA8399708 COSM3514330 COSM3514331 COSM3514329	616	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA8399709 rs762095359	619	D>Y		No	ClinGen ExAC
rs765579659 CA8399710	620	Q>E		No	ClinGen ExAC gnomAD
rs773761570 CA8399711 COSM1324162 COSM1324161	621	T>S	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA
COSM704984 CA8399713 COSM1147740 rs113274254	622	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic
rs999528759 CA287998648	623	V>E		No	ClinGen TOPMed
TCGA novel	624	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1325619608 CA398205385	628	F>L		No	ClinGen TOPMed
CA8399714 rs141965445	629	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1218438094 CA398205410	630	S>G		No	ClinGen TOPMed
rs1456290854 CA398205429	631	P>L		No	ClinGen TOPMed gnomAD
rs1456290854 CA398205427	631	P>R		No	ClinGen TOPMed gnomAD
COSM704983 COSM1147741	631	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1159281850 CA398205440	632	Q>H		No	ClinGen gnomAD
TCGA novel	632	Q>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1297400175 CA398205443	633	C>S		No	ClinGen gnomAD
COSM1380960 COSM1380959 COSM5173548	636	Q>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4064013 COSM4064014 COSM4064012	637	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399718 rs369146035	639	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777698406 CA8399720	641	G>E		No	ClinGen ExAC gnomAD
COSM3514335 COSM3514337 COSM3514336	641	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1270129059 CA398205547	642	A>D		No	ClinGen gnomAD
rs749296950 CA8399721	642	A>T		No	ClinGen ExAC gnomAD
COSM4895611 COSM4895612 COSM4895613	644	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399723 rs778520764	644	K>Q		No	ClinGen ExAC gnomAD
CA8399724 rs745324497	645	S>G		No	ClinGen ExAC gnomAD
CA398205584 rs1484483489	645	S>T		No	ClinGen gnomAD
CA398205597 rs1470642227	646	P>L		No	ClinGen TOPMed
rs28730825 CA8399725	647	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775187138 CA8399726	649	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8399727 rs746649561	649	I>M		No	ClinGen ExAC gnomAD
COSM704981 rs775187138 COSM1147743 CA398205628	649	I>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770189748 CA8399728	650	S>G		No	ClinGen ExAC gnomAD
COSM4064015 COSM4064016 COSM4064017	651	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs553771338 CA287998738	651	L>M		No	ClinGen TOPMed gnomAD
COSM3818844 COSM3818843 COSM3818845 CA8399729 rs773414826	652	P>S	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs763545671 CA8399730	655	P>L		No	ClinGen ExAC gnomAD
CA8399731 rs201621132	656	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439297872 CA398206076	657	N>S		No	ClinGen TOPMed
CA8399733 rs759465795	658	P>L		No	ClinGen ExAC gnomAD
CA8399734 rs759465795	658	P>R		No	ClinGen ExAC gnomAD
CA287998752 rs550120333	658	P>S		No	ClinGen 1000Genomes
CA8399735 rs753028491	659	H>N		No	ClinGen ExAC TOPMed gnomAD
rs753028491 CA8399736	659	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA398206134 rs1365656617	662	P>A		No	ClinGen TOPMed gnomAD
CA398206142 rs1218718131	662	P>L		No	ClinGen gnomAD
rs571780777 CA8399739	664	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287998808 rs189381009	665	S>C		No	ClinGen 1000Genomes
CA8399741 rs745811004	666	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM6080514 COSM6080513 COSM6080515	666	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1324159 COSM1324160	667	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1274371892 CA398206203	668	Q>E		No	ClinGen gnomAD
CA398206209 rs1483551658	668	Q>R		No	ClinGen gnomAD
rs1234249515 CA398206218	669	G>R		No	ClinGen gnomAD
CA398206250 rs1476778047	671	G>A		No	ClinGen TOPMed gnomAD
CA8399744 rs746700746	672	H>L		No	ClinGen ExAC gnomAD
rs768257209 CA398206266	672	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs755264953 CA8399743	672	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8399746 rs773648355	675	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749557798 CA8399747	676	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1348351214 CA398206364	680	S>N		No	ClinGen gnomAD
rs1386103654 CA398206395	682	V>L		No	ClinGen TOPMed
TCGA novel	683	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA398206431 rs1597809976	684	T>A		No	ClinGen Ensembl
rs1294204794 CA398206446	685	A>T		No	ClinGen TOPMed gnomAD
rs772329506 CA8399751	686	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	690	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA8399794 rs773002619	691	H>P		No	ClinGen ExAC TOPMed gnomAD
CA398208246 rs1597815474	691	H>Q		No	ClinGen Ensembl
CA8399793 rs770006806	691	H>Y		No	ClinGen ExAC gnomAD
CA8399795 rs762668400	692	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8399796 rs766158537	693	S>A		No	ClinGen ExAC TOPMed gnomAD
rs774329233 CA8399797	693	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs374404083 CA8399798	694	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8399799 rs766976796	696	V>L		No	ClinGen ExAC gnomAD
CA398208315 rs1392715317	697	G>R		No	ClinGen gnomAD
COSM3514341 COSM3514343 COSM3514342	698	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA398208346 rs1171408477	699	K>R		No	ClinGen gnomAD
rs1329963872 CA398208377	701	S>L		No	ClinGen gnomAD
rs1183180587 CA398208382	702	I>V		No	ClinGen TOPMed
CA398208394 rs1234959246	703	P>A		No	ClinGen gnomAD
COSM975591 COSM1588624	703	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4064018 COSM4064020 COSM4064019	704	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288003106 rs933255422	705	P>R		No	ClinGen TOPMed
COSM3889322 COSM3889323 COSM3889324	706	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs955634825 CA288003113	706	T>N		No	ClinGen gnomAD
CA288003122 rs370610730	709	K>Q		No	ClinGen ESP
rs755745713 CA8399801	710	S>A		No	ClinGen ExAC gnomAD
rs577950524 CA8399802	712	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs747554352 CA8399806	714	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8399805 rs780556970	714	I>V		No	ClinGen ExAC gnomAD
COSM3514344 COSM2737812 COSM2737813	715	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781150543 CA8399808	716	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs538784941 CA8399810	720	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8399809 rs748200406	720	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398208568 rs1161046822	721	P>L		No	ClinGen gnomAD
COSM5717891 COSM5717890 COSM5717892	722	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs942749589 CA288003193	722	S>Y		No	ClinGen TOPMed
CA8399811 rs773489630	723	Y>C		No	ClinGen ExAC gnomAD
rs1327919864 CA398208590 CA398208589	724	E>D		No	ClinGen TOPMed gnomAD
COSM3889325 COSM3889326 COSM3889327	724	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA398208591 rs1362926104	725	D>N		No	ClinGen gnomAD
CA8399814 rs141832064	727	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868521403 CA288003209	728	K>E		No	ClinGen Ensembl
TCGA novel	728	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398208640 rs1471963596	730	Q>R		No	ClinGen gnomAD
CA398208645 rs1346884018	731	M>V		No	ClinGen gnomAD
CA8399842 rs767759600	732	T>N		No	ClinGen ExAC gnomAD
CA8399843 rs753297107	733	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA398208659 rs1302055261	733	R>W		No	ClinGen gnomAD
rs756583035 CA8399844	734	S>G		No	ClinGen ExAC gnomAD
TCGA novel	736	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398208690 rs1258392615	737	M>T		No	ClinGen TOPMed
rs753867967 CA8399846	738	D>N		No	ClinGen ExAC gnomAD
TCGA novel	739	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	739	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398208702 rs1224403640	739	E>Q		No	ClinGen gnomAD
rs150477198 CA288005091	742	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1597818595 CA398208724	742	D>G		No	ClinGen Ensembl
CA8399849 rs746076059	743	V>E		No	ClinGen ExAC gnomAD
rs779127716 CA8399848	743	V>M		No	ClinGen ExAC gnomAD
COSM1147744 COSM704980	746	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288005135 rs897626201	746	E>K		No	ClinGen Ensembl
rs1330962800 CA398208761	748	G>E		No	ClinGen TOPMed gnomAD
rs747551736 CA8399854	748	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	749	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	750	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769394829 CA8399875	752	A>G		No	ClinGen ExAC gnomAD
rs769394829 CA8399874	752	A>V		No	ClinGen ExAC gnomAD
CA8399878 rs374301549	753	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371712377 CA8399877	753	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371712377 CA8399876	753	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399880 rs764441484	754	A>T		No	ClinGen ExAC TOPMed gnomAD
rs138291293 CA8399881	755	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762289466 CA8399882	756	E>Q		No	ClinGen ExAC gnomAD
CA288007451 rs1029286911	757	D>V		No	ClinGen Ensembl
rs765402581 CA8399883	758	H>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	758	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398209464 rs750416955	758	H>Q		No	ClinGen ExAC gnomAD
COSM1588623 COSM975592	760	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs973918334 CA288007474	760	C>Y		No	ClinGen TOPMed
CA8399885 rs149612407	761	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8399886 rs766441876	763	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1363038971 CA398209570	764	V>F		No	ClinGen gnomAD
rs1214847530 CA398209605	766	K>E		No	ClinGen gnomAD
COSM3514347 COSM3514346	766	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1319473560 CA398209639	767	I>M		No	ClinGen TOPMed gnomAD
rs373318115 CA8399887	767	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs537950891 CA288007492	767	I>V		No	ClinGen gnomAD
CA288007501 rs756923776	768	P>S		No	ClinGen gnomAD
CA8399889 rs781111084	769	R>S		No	ClinGen ExAC gnomAD
COSM3514348 COSM3514349	771	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288007516 COSM4969749 rs771058548 COSM4969748	772	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs748136577 CA398209717	773	S>N		No	ClinGen ExAC gnomAD
CA8399890 rs748136577	773	S>T		No	ClinGen ExAC gnomAD
CA8399891 rs755964858	774	P>T		No	ClinGen ExAC gnomAD
rs962756208 CA288007518	775	T>A		No	ClinGen Ensembl
rs1461068418 CA398209743	776	A>T		No	ClinGen gnomAD
CA8399892 rs777365524	778	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1318222562 CA398209778	779	T>A		No	ClinGen gnomAD
CA8399894 rs770622487	780	K>E		No	ClinGen ExAC
rs1045682859 CA288007561	781	P>A		No	ClinGen TOPMed gnomAD
CA8399895 rs376756900	782	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM6043047 COSM6043048	783	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3514351 COSM3514350	784	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762417803 CA8399899	784	S>T		No	ClinGen ExAC TOPMed gnomAD
rs765601222 CA8399900	784	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs773343656 CA8399901	786	E>A		No	ClinGen ExAC
rs773343656 CA398209837	786	E>G		No	ClinGen ExAC
rs763007628 CA8399902	787	Q>H		No	ClinGen ExAC gnomAD
rs1206794522 CA398209841	787	Q>K		No	ClinGen TOPMed gnomAD
rs1555536659 CA8399903	788	A>T		No	ClinGen Ensembl
rs766467292 CA8399905	788	A>V		No	ClinGen ExAC gnomAD
CA398209864 rs1390677614	791	G>S		No	ClinGen TOPMed gnomAD
CA8399907 rs193131989	792	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM272158	793	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6080512 COSM6080511	793	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399909 rs752491187	794	I>N		No	ClinGen ExAC gnomAD
rs756091535 CA8399910	795	P>L		No	ClinGen ExAC gnomAD
rs895247598 CA288007620 COSM3735521 COSM3735522	795	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1188868249 CA398209899	796	F>S		No	ClinGen gnomAD
CA398209903 rs1420178882	797	D>Y		No	ClinGen gnomAD
COSM5385721 COSM5385722	798	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1471633967 CA398209915	798	P>R		No	ClinGen gnomAD
CA398209918 rs1386299812	799	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	800	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399912 rs753811442	801	T>A		No	ClinGen ExAC gnomAD
CA8399913 rs756778183 COSM975593 COSM1588622	802	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM4920353 COSM4920354	805	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288007675 rs1022319238	806	H>Q		No	ClinGen TOPMed
CA398209974 rs1278943967	807	L>I		No	ClinGen gnomAD
CA288007682 rs935349148	809	V>I		No	ClinGen gnomAD
CA288007704 rs1052417722	810	L>I		No	ClinGen Ensembl
CA398210002 rs1414652604	811	L>S		No	ClinGen TOPMed
CA8399918 rs748391546	815	S>R		No	ClinGen ExAC gnomAD
CA398210033 rs893908267	815	S>R		No	ClinGen TOPMed gnomAD
CA8399919 rs770187019	817	L>R		No	ClinGen ExAC gnomAD
TCGA novel	818	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs267604746 COSM3514355 COSM3514354 CA288007755	818	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA
rs374937167 CA8399921	818	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399923 rs774532349	820	M>I		No	ClinGen ExAC gnomAD
rs1364387771 CA398210059	820	M>L		No	ClinGen gnomAD
rs558482139 CA8399922	820	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759859643 CA8399924	821	S>N		No	ClinGen ExAC gnomAD
CA398210069 rs1435689268	821	S>R		No	ClinGen gnomAD
rs1163983803 CA398210071	822	D>N		No	ClinGen TOPMed
COSM5785581 COSM5785580	823	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288007801 rs1029955949	823	V>I		No	ClinGen TOPMed gnomAD
CA8399925 rs767791224	824	T>I		No	ClinGen ExAC gnomAD
TCGA novel	825	L>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA8399926 rs143315007	825	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA288007834 rs143315007	825	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327642999 CA398210096	826	L>P		No	ClinGen gnomAD
CA8399928 rs763938817	828	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM3969828 COSM3969829	829	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs28730829 CA8399930	830	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	831	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM975594 COSM1153027 CA8399931 rs778429833	831	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs867649442 CA288007888	833	P>R		No	ClinGen Ensembl
CA8399934 rs779744834	834	H>P		No	ClinGen ExAC gnomAD
CA8399933 rs756427060	834	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	835	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA398210151 rs1336341428	835	F>I		No	ClinGen TOPMed
COSM3712210 COSM3712209	836	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288007925 rs868380717	836	D>N		No	ClinGen Ensembl
COSM4404324 COSM4404323	837	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1197417015 CA398210177	838	I>T		No	ClinGen gnomAD
CA398210173 rs1439609627	838	I>V		No	ClinGen gnomAD
CA8399936 rs770098417	839	M>I		No	ClinGen ExAC gnomAD
rs1597822893 CA398210189	840	D>Y		No	ClinGen Ensembl
rs1016528141 CA288007946	841	G>*		No	ClinGen Ensembl
rs372409336 CA288007964	841	G>A		No	ClinGen ESP ExAC gnomAD
CA8399937 rs372409336	841	G>E		No	ClinGen ESP ExAC gnomAD
COSM975595 COSM1216473	842	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	842	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA398210215 rs1270705368	844	G>E		No	ClinGen TOPMed
rs771526002 CA8399939	845	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8399941 rs759630262	846	A>S		No	ClinGen ExAC TOPMed gnomAD
CA398210233 rs1411152157	847	A>E		No	ClinGen gnomAD
CA8399943 rs141970944	849	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8399942 rs772264210	849	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1441466443 CA398210251	850	L>V		No	ClinGen gnomAD
CA398210262 rs1324418749	851	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760918658 CA8399944	851	F>Y		No	ClinGen ExAC gnomAD
rs1227029863 CA398210266	852	N>S		No	ClinGen gnomAD
CA288008048 rs774555357	852	N>Y		No	ClinGen Ensembl
rs763841697 CA8399945	853	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749821182 CA398210278	854	H>P		No	ClinGen ExAC TOPMed gnomAD
rs761765765 CA8399947	854	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs749821182 CA8399946	854	H>R		No	ClinGen ExAC TOPMed gnomAD
CA398210277 rs1324482542	854	H>Y		No	ClinGen TOPMed
TCGA novel	855	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM417189 COSM1133482	855	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1324157 COSM1324158	856	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6080510 COSM6080509	858	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA8399948 rs765105192	859	G>D		No	ClinGen ExAC gnomAD
rs1246630331 CA398210321	861	L>V		No	ClinGen gnomAD
rs765847341 CA8399951	863	P>A		No	ClinGen ExAC TOPMed gnomAD
rs751221268 CA8399952	864	M>T		No	ClinGen ExAC gnomAD
CA8399954 rs577405170	867	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1709969 COSM1709968	869	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA398210384 rs1567605374	870	P>L		No	ClinGen Ensembl
rs895175793 CA288008103	870	P>T		No	ClinGen TOPMed gnomAD
rs1381434919 CA398210399	873	V>L		No	ClinGen gnomAD
TCGA novel	874	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA8399957 rs201316990	875	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231610006 CA398210415	875	S>R		No	ClinGen TOPMed gnomAD
CA8399956 rs201316990	875	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA288008144 rs946824261	876	N>K		No	ClinGen Ensembl
rs1292775144 CA398210419	876	N>Y		No	ClinGen gnomAD
rs1335528499 CA398210433	878	L>P		No	ClinGen gnomAD
rs150794965 CA8399958	883	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399959 rs367931249	885	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs367931249 CA288008145	885	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1141053 COSM559729	886	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3514361 COSM3514360	887	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775615182 CA8399960	887	W>R		No	ClinGen ExAC gnomAD
COSM3514363 COSM3514362	888	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768879738 COSM6080507 COSM1141054 COSM559728 CA8399962 COSM6080508	890	M>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC gnomAD NCI-TCGA Cosmic
rs747214561 CA8399961	890	M>V		No	ClinGen ExAC gnomAD
CA398211165 rs1478617478	893	L>P		No	ClinGen gnomAD
rs776290752 CA8399963	894	D>G		No	ClinGen ExAC gnomAD
rs1443463337 COSM339340 CA398211174	894	D>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs765015224 CA8399965	896	T>S		No	ClinGen ExAC gnomAD
rs139170912 COSM3718517 COSM3718516 CA8399966	897	P>L	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1289232519 CA398211243	898	P>L		No	ClinGen gnomAD
rs1050864701 CA288008185	898	P>S		No	ClinGen gnomAD
CA288008193 rs887042605	903	G>V		No	ClinGen gnomAD
TCGA novel	904	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765830727 CA8399968	905	S>G		No	ClinGen ExAC TOPMed gnomAD
CA398211344 rs1160985657	905	S>N		No	ClinGen TOPMed gnomAD
CA398211339 rs765830727	905	S>R		No	ClinGen ExAC TOPMed gnomAD
rs370289662 CA8399971	906	A>S		No	ClinGen ESP ExAC gnomAD
COSM174971 rs370289662 CA8399970	906	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA398211366 rs1418579129	906	A>V		No	ClinGen TOPMed
rs140366784 CA8399972	907	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8399974 rs779388011	911	S>G		No	ClinGen ExAC gnomAD
rs746423932 CA398211452	911	S>R		No	ClinGen ExAC TOPMed
COSM3514365 COSM3514364	912	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1240342527 CA398211468	912	P>S		No	ClinGen gnomAD
COSM6080506 COSM6080505	912	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1597823300 CA398211484	913	S>G		No	ClinGen Ensembl
CA8399976 rs758923452	914	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1147746 COSM704978	915	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780026025 CA8399977	916	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8399980 rs548717673	917	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8399978 rs374731521	917	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA288008299 rs898197399	918	D>E		No	ClinGen TOPMed
COSM5851840 rs748342025 COSM5851841 CA8399981	918	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM4840072 COSM4840073	919	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6146083 COSM6146082	921	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA288008309 rs1012577150	924	D>V		No	ClinGen Ensembl
COSM4402728 COSM4402729	925	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762910353 COSM1324156 COSM1324155 CA8399984	926	N>K	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA398211670 rs1346080795	926	N>S		No	ClinGen TOPMed
CA8399985 rs770836735	927	L>F		No	ClinGen ExAC gnomAD
rs1173315213 CA398211720	930	S>F		No	ClinGen gnomAD
CA398211715 rs1432628330	930	S>P		No	ClinGen gnomAD
rs773748003 CA8399986	931	M>V		No	ClinGen ExAC gnomAD
rs759143664 CA8399987	933	L>F		No	ClinGen ExAC gnomAD
CA288008361 rs928434263	936	Q>*		No	ClinGen TOPMed gnomAD
rs766931769 CA8399988	936	Q>L		No	ClinGen ExAC gnomAD
CA398211813 rs1296492677	937	Q>R		No	ClinGen TOPMed
CA288008366 rs759797147	938	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA

1 associated diseases with Q8IZQ8

[MIM: 618719]: Megabladder, congenital (MGBL)

An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero. . Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero. . Note=The disease may be caused by variants affecting the gene represented in this entry.

No regional properties for Q8IZQ8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8IZQ8

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family	PTHR22793	MYOCARDIN-RELATED TRANSCRIPTION FACTOR-RELATED
PANTHER Subfamily	PTHR22793:SF11	MYOCARDIN
PANTHER Protein Class	DNA-binding transcription factor
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

6 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
histone acetyltransferase binding	Binding to an histone acetyltransferase.
histone deacetylase binding	Binding to histone deacetylase.
R-SMAD binding	Binding to a receptor-regulated SMAD signaling protein.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

45 GO annotations of biological process

Name	Definition
cardiac muscle cell apoptotic process	A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a cardiac muscle cell and result in its death. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction.
cardiac muscle cell differentiation	The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction.
cardiac muscle cell myoblast differentiation	The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life.
cardiac vascular smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a cardiac vascular smooth muscle cell. A cardiac vascular smooth muscle cell covers the heart vasculature and lacks transverse striations in its constituent fibers.
cardiac ventricle development	The process whose specific outcome is the progression of a cardiac ventricle over time, from its formation to the mature structure. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart.
cardiocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual.
cellular component maintenance	The organization process that preserves a cellular component in a stable functional or structural state.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
digestive tract development	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
ductus arteriosus closure	The morphogenesis process in which the ductus arteriosus changes to no longer permit blood flow after birth. The ductus arteriosus is the shunt between the aorta and the pulmonary artery which allows blood to bypass the fetus' lungs.
lung alveolus development	The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
negative regulation of amyloid-beta clearance	Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta clearance.
negative regulation of cardiac muscle cell apoptotic process	Any process that decreases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death.
negative regulation of cell adhesion molecule production	Any process that decreases the rate, frequency or extent of cell adhesion molecule production. Cell adhesion molecule production is the appearance of a cell adhesion molecule as a result of its biosynthesis or a decrease in its catabolism.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of cyclin-dependent protein serine/threonine kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
negative regulation of myotube differentiation	Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.
negative regulation of platelet-derived growth factor receptor-beta signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of platelet-derived growth factor receptor-beta signaling pathway.
negative regulation of skeletal muscle cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle cell differentiation.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of vascular associated smooth muscle cell migration	Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration.
negative regulation of vascular associated smooth muscle cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
positive regulation of cardiac muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of miRNA transcription	Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription.
positive regulation of smooth muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of smooth muscle cell differentiation.
positive regulation of smooth muscle contraction	Any process that activates or increases the frequency, rate or extent of smooth muscle contraction.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transforming growth factor beta receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity.
regulation of cell growth by extracellular stimulus	Any process in which external signals modulate the frequency, rate or extent of cell growth, the irreversible increase in size of a cell over time.
regulation of histone acetylation	Any process that modulates the frequency, rate or extent of the addition of an acetyl group to a histone protein.
regulation of myoblast differentiation	Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
regulation of phenotypic switching	Any process that modulates the frequency, rate or extent of phenotypic switching.
regulation of smooth muscle cell differentiation	Any process that modulates the frequency, rate or extent of smooth muscle cell differentiation.
response to hypoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
urinary bladder development	The process whose specific outcome is the progression of the urinary bladder over time, from its formation to the mature structure. The urinary bladder is an elastic, muscular sac situated in the anterior part of the pelvic cavity in which urine collects before excretion.
uterus development	The reproductive developmental process whose specific outcome is the progression of the uterus over time, from its formation to the mature structure.
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.
ventricular cardiac muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a ventricular cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. The ventricle is the part of the heart that pumps blood out of the organ.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VIM5	Myocd	Myocardin	Mus musculus (Mouse)	SS
Q7YR76	MYOCD	Myocardin	Sus scrofa (Pig)	SS
Q8R5I7	Myocd	Myocardin	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MTLLGSEHSL	LIRSKFRSVL	QLRLQQRRTQ	EQLANQGIIP	PLKRPAEFHE	QRKHLDSDKA
70	80	90	100	110	120
KNSLKRKARN	RCNSADLVNM	HILQASTAER	SIPTAQMKLK	RARLADDLNE	KIALRPGPLE
130	140	150	160	170	180
LVEKNILPVD	SAVKEAIKGN	QVSFSKSTDA	FAFEEDSSSD	GLSPDQTRSE	DPQNSAGSPP
190	200	210	220	230	240
DAKASDTPST	GSLGTNQDLA	SGSENDRNDS	ASQPSHQSDA	GKQGLGPPST	PIAVHAAVKS
250	260	270	280	290	300
KSLGDSKNRH	KKPKDPKPKV	KKLKYHQYIP	PDQKAEKSPP	PMDSAYARLL	QQQQLFLQLQ
310	320	330	340	350	360
ILSQQQQQQQ	HRFSYLGMHQ	AQLKEPNEQM	VRNPNSSSTP	LSNTPLSPVK	NSFSGQTGVS
370	380	390	400	410	420
SFKPGPLPPN	LDDLKVSELR	QQLRIRGLPV	SGTKTALMDR	LRPFQDCSGN	PVPNFGDITT
430	440	450	460	470	480
VTFPVTPNTL	PNYQSSSSTS	ALSNGFYHFG	STSSSPPISP	ASSDLSVAGS	LPDTFNDASP
490	500	510	520	530	540
SFGLHPSPVH	VCTEESLMSS	LNGGSVPSEL	DGLDSEKDKM	LVEKQKVINE	LTWKLQQEQR
550	560	570	580	590	600
QVEELRMQLQ	KQKRNNCSEK	KPLPFLAASI	KQEEAVSSCP	FASQVPVKRQ	SSSSECHPPA
610	620	630	640	650	660
CEAAQLQPLG	NAHCVESSDQ	TNVLSSTFLS	PQCSPQHSPL	GAVKSPQHIS	LPPSPNNPHF
670	680	690	700	710	720
LPSSSGAQGE	GHRVSSPISS	QVCTAQMAGL	HSSDKVGPKF	SIPSPTFSKS	SSAISEVTQP
730	740	750	760	770	780
PSYEDAVKQQ	MTRSQQMDEL	LDVLIESGEM	PADAREDHSC	LQKVPKIPRS	SRSPTAVLTK
790	800	810	820	830	840
PSASFEQASS	GSQIPFDPYA	TDSDEHLEVL	LNSQSPLGKM	SDVTLLKIGS	EEPHFDGIMD
850	860	870	880	890	900
GFSGKAAEDL	FNAHEILPGP	LSPMQTQFSP	SSVDSNGLQL	SFTESPWETM	EWLDLTPPNS
910	920	930
TPGFSALTTS	SPSIFNIDFL	DVTDLNLNSS	MDLHLQQW