AiPD: Autoinhibited Protein Database

Q8IWB9

Gene name	TEX2 (KIAA1738, TMEM96)
Protein name	Testis-expressed protein 2
Names	Transmembrane protein 96
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55852
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

125-212 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

125-212 (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

1 structures for Q8IWB9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IWB9-F1	Predicted				AlphaFoldDB

780 variants for Q8IWB9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA400630764 rs1555632297	3	S>I		No	ClinGen gnomAD
CA292996043 rs528014758	5	Y>C		No	ClinGen 1000Genomes
CA400630746 rs1555632292	6	G>D		No	ClinGen gnomAD
CA400630744 rs1555632292	6	G>V		No	ClinGen gnomAD
CA8712457 rs376851393	7	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712456 rs142562722	7	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA400630737 rs1427234282	8	H>Y		No	ClinGen TOPMed
CA8712453 rs782163632	10	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1555632281 CA400630699	13	T>I		No	ClinGen gnomAD
CA8712452 rs562126347	15	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371346792 CA8712451	16	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	19	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712448 rs542449396	21	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1441631683 CA400630642	22	K>R		No	ClinGen TOPMed
rs531838924 CA8712447	23	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA400630638 rs1598189463	23	V>M		No	ClinGen Ensembl
rs1555632274 CA400630629	24	H>R		No	ClinGen gnomAD
CA8712444 rs782205315	25	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8712445 rs782205315	25	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782602650 CA8712443	26	Q>H		No	ClinGen ExAC gnomAD
CA8712442 rs782359745	27	R>K		No	ClinGen ExAC gnomAD
rs1555632263 CA400630609	27	R>S		No	ClinGen gnomAD
CA400630608 rs1555632260	28	S>P		No	ClinGen gnomAD
CA8712440 rs367869807	29	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267670566 CA400630593	30	S>F		No	ClinGen TOPMed
TCGA novel	30	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712439 rs782526031	31	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA400630583 rs1555632254	32	D>G		No	ClinGen gnomAD
TCGA novel	32	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712438 rs781899720	33	T>A		No	ClinGen ExAC gnomAD
rs781899720 CA400630578	33	T>P		No	ClinGen ExAC gnomAD
CA8712437 rs782568746	34	I>S		No	ClinGen ExAC
CA8712436 COSM982893 rs782450553	35	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782739312 CA8712434	37	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs782108981 CA8712433	39	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400630523 rs1422884195	42	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8712430 rs374122281	43	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA400630511 rs1555632242	44	E>K		No	ClinGen gnomAD
CA8712429 rs781945232	45	E>D		No	ClinGen ExAC gnomAD
rs1555632233 CA400630468	49	E>G		No	ClinGen gnomAD
TCGA novel	50	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292995740 rs577332867	52	F>C		No	ClinGen 1000Genomes
CA292995730 rs113592522	55	Y>N		No	ClinGen Ensembl
rs782277952 CA8712420	64	S>N		No	ClinGen ExAC gnomAD
CA8712421 rs782387468	64	S>R		No	ClinGen ExAC gnomAD
CA400630333 rs1315077950	68	G>W		No	ClinGen TOPMed
CA8712419 rs782668826	71	A>T		No	ClinGen ExAC gnomAD
CA400630313 rs1555632225	71	A>V		No	ClinGen gnomAD
rs147535178 CA400630288	74	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400630290 rs1598189035	74	D>V		No	ClinGen Ensembl
rs1335964778 CA400630293	74	D>Y		No	ClinGen TOPMed gnomAD
CA8712417 rs147348905	75	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712416 rs782601792	76	Y>C		No	ClinGen ExAC gnomAD
CA400630263 rs782481027	78	E>D		No	ClinGen ExAC gnomAD
CA400630265 rs1555632220	78	E>G		No	ClinGen gnomAD
rs1555632224 CA400630269	78	E>Q		No	ClinGen gnomAD
rs143334048 CA8712414	80	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555632217 CA400630236	82	G>A		No	ClinGen Ensembl
rs1555632217 CA400630237	82	G>D		No	ClinGen Ensembl
rs1555632217 CA400630235	82	G>V		No	ClinGen Ensembl
CA400630223 rs1555632216	83	H>Q		No	ClinGen gnomAD
rs1555632214 CA400630215	84	D>A		No	ClinGen Ensembl
CA8712411 COSM212251 rs782469214	86	A>T	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	86	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782713537 CA8712409	87	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8712408 rs782489657	88	P>A		No	ClinGen ExAC gnomAD
CA8712406 rs782764453	89	A>V		No	ClinGen ExAC gnomAD
CA8712405 COSM707639 rs201071171	91	S>L	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1035748262 CA292995610	92	P>L		No	ClinGen TOPMed gnomAD
rs782817432 CA8712403	95	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782044219 CA8712402	96	D>G		No	ClinGen ExAC gnomAD
rs781938529 CA8712401	97	G>R		No	ClinGen ExAC gnomAD
COSM982892 rs782338359 CA8712400	99	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782222105 CA8712399	100	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8712396 rs782274762	103	A>D		No	ClinGen ExAC gnomAD
rs1598188771 CA400629950	103	A>P		No	ClinGen Ensembl
CA8712397 rs782274762	103	A>V		No	ClinGen ExAC gnomAD
CA8712395 rs782563971	106	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1385283 CA8712392 rs569368061	109	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1224884575 CA400629823	111	K>E		No	ClinGen TOPMed
rs781872151 CA8712390	113	T>A		No	ClinGen ExAC TOPMed gnomAD
rs781872151 CA8712391	113	T>P		No	ClinGen ExAC TOPMed gnomAD
CA400629768 rs782797338	114	V>E		No	ClinGen ExAC TOPMed gnomAD
CA8712389 rs782797338	114	V>G		No	ClinGen ExAC TOPMed gnomAD
CA8712387 rs781786979	118	E>A		No	ClinGen ExAC gnomAD
rs782557121 CA8712388	118	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA400629702 rs1555632184	119	S>A		No	ClinGen gnomAD
rs782080763 CA8712385	119	S>F		No	ClinGen ExAC gnomAD
rs781966552 CA8712384	120	P>A		No	ClinGen ExAC gnomAD
CA8712383 rs782769267	122	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1555632183 CA400629663	122	P>L		No	ClinGen gnomAD
CA400629675 rs782769267	122	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782013873 CA8712381	124	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	124	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	129	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76631276 CA8712380	135	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA292995392 rs892847390	136	P>R		No	ClinGen Ensembl
CA400629384 rs1159112102	137	G>R		No	ClinGen TOPMed
rs1598188574 CA400629359	138	S>A		No	ClinGen Ensembl
CA400629356 rs1424407890	138	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368868113 CA8712378	139	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782361810 CA8712377	140	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374678024 CA8712374	141	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA400629254 rs1555632171	143	P>L		No	ClinGen gnomAD
rs782565462 CA8712372	143	P>S		No	ClinGen ExAC gnomAD
CA8712370 rs781819425	145	A>P		No	ClinGen ExAC gnomAD
rs782625522 CA8712369	146	S>G		No	ClinGen ExAC gnomAD
rs199526183 CA8712368	146	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA400629177 rs1555632170	147	S>C		No	ClinGen gnomAD
rs1555632167 CA400629094	150	V>M		No	ClinGen gnomAD
rs1366145501 CA400629030	153	L>H		No	ClinGen TOPMed
CA292995329 rs943213068	153	L>I		No	ClinGen TOPMed
TCGA novel	154	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712367 rs200927821	154	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	156	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782792032 CA8712366	156	Q>R		No	ClinGen ExAC TOPMed gnomAD
VAR_061712 rs28605685 CA8712364	158	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs28605685 CA8712365	158	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400628877 rs1204058347	160	S>C		No	ClinGen TOPMed
CA8712363 rs112665037	161	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400628867 rs1598188359	161	S>T		No	ClinGen Ensembl
CA400628817 rs373780985	162	S>C		No	ClinGen ESP TOPMed gnomAD
rs373780985 CA400628824	162	S>Y		No	ClinGen ESP TOPMed gnomAD
rs1182282644 CA400628766	165	S>F		No	ClinGen TOPMed
rs782395498 CA8712360	166	S>C		No	ClinGen ExAC TOPMed gnomAD
rs782146243 CA8712358	169	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1398934155 CA400628669	170	S>C		No	ClinGen TOPMed
CA400628652 rs1410703650	171	P>R		No	ClinGen TOPMed gnomAD
rs1329652243 CA400628628	172	I>V		No	ClinGen TOPMed gnomAD
CA8712356 rs548447866	175	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA292995240 rs548447866	175	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8712355 rs782598628	176	S>G		No	ClinGen ExAC gnomAD
CA8712353 rs782359424	176	S>N		No	ClinGen ExAC gnomAD
CA8712354 rs782598628	176	S>R		No	ClinGen ExAC gnomAD
rs1555632138 CA400628558	178	S>T		No	ClinGen gnomAD
rs1555632133 CA400628539	179	T>I		No	ClinGen gnomAD
CA400628507 rs1371160910	182	L>F		No	ClinGen TOPMed
CA400628505 rs1555632129	182	L>P		No	ClinGen gnomAD
CA400628500 rs1227063008	183	S>T		No	ClinGen TOPMed
CA292995213 rs779734992	184	S>I		No	ClinGen Ensembl
CA292995199 rs981520777	186	K>E		No	ClinGen Ensembl
rs781896193 CA8712349	187	P>H		No	ClinGen ExAC TOPMed gnomAD
rs781896193 CA400628444	187	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400628445 rs781896193	187	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8712347 CA400628430 rs782476243	189	M>L		No	ClinGen ExAC gnomAD
CA8712346 rs781849761	189	M>R		No	ClinGen ExAC gnomAD
rs782771727 CA8712345	192	V>G		No	ClinGen ExAC gnomAD
CA400628378 rs1555632120	193	K>R		No	ClinGen gnomAD
CA8712344 rs782127807	194	S>C		No	ClinGen ExAC TOPMed gnomAD
rs755736755 CA8712341	195	L>V		No	ClinGen ExAC TOPMed gnomAD
rs868977631 CA400628344	196	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201453522 CA8712336	198	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs368365701 CA8712335	202	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	202	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782028611 CA8712334	203	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782302743 CA8712333	204	S>Y		No	ClinGen ExAC gnomAD
CA400628236 rs1448741992	206	H>R		No	ClinGen TOPMed gnomAD
rs782624840 CA400628216	208	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782624840 CA8712331	208	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA292995104 rs373213480	208	A>V		No	ClinGen Ensembl
rs1555632097 CA400628200	209	R>M		No	ClinGen gnomAD
rs1555632096 CA400628188	210	H>R		No	ClinGen gnomAD
CA292995072 rs1011874215	212	H>Y		No	ClinGen TOPMed
rs998928183 CA292995066	216	T>I		No	ClinGen TOPMed
CA8712327 rs781906541	222	S>*		No	ClinGen ExAC
CA8712325 rs782675206	223	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1327668335 CA400628023	224	D>N		No	ClinGen TOPMed gnomAD
rs1555632078 CA400628006	225	T>N		No	ClinGen gnomAD
CA8712322 rs782732454	227	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781833061 CA8712319	228	Q>*		No	ClinGen ExAC gnomAD
rs572203355 CA8712318	228	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA400627982 rs1555632076	229	E>V		No	ClinGen gnomAD
rs376031448 CA8712316	230	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs782126305 CA8712317	230	S>P		No	ClinGen ExAC gnomAD
CA400627970 rs1555632075	231	D>V		No	ClinGen gnomAD
rs555640592 CA8712312	235	Y>C		No	ClinGen 1000Genomes ExAC
CA8712311 rs782362409	236	K>T		No	ClinGen ExAC gnomAD
rs782242513 CA8712310	238	P>S		No	ClinGen ExAC gnomAD
rs1555632065 CA400627921	239	D>A		No	ClinGen gnomAD
rs1555632066 CA400627922	239	D>N		No	ClinGen gnomAD
rs1555632063 CA400627902	242	L>M		No	ClinGen gnomAD
rs888990523 CA292994935	242	L>P		No	ClinGen gnomAD
CA400627879 rs1555632060 COSM247790	245	H>R	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA400627881 rs1464388663	245	H>Y		No	ClinGen TOPMed
rs782138059 CA292994929	246	L>M		No	ClinGen ExAC gnomAD
CA400627864 rs1555632055	247	F>L		No	ClinGen gnomAD
CA400627863 rs1567946264	248	K>E		No	ClinGen Ensembl
CA400627831 rs1555632053	252	Q>*		No	ClinGen gnomAD
CA8712308 rs541588191	253	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400627824 rs541588191	253	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8712307 rs782302291	254	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782575004 CA8712306	254	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8712305 rs782452945	256	T>A		No	ClinGen ExAC gnomAD
rs1476289112 CA400627804	257	G>R		No	ClinGen TOPMed gnomAD
CA400627787 rs1411618476	259	D>G		No	ClinGen TOPMed gnomAD
rs1411618476 CA400627789	259	D>V		No	ClinGen TOPMed gnomAD
CA400627783 rs1555632040	260	S>P		No	ClinGen gnomAD
CA8712301 rs781863797	263	A>S		No	ClinGen ExAC gnomAD
CA400627758 rs1555632033	264	P>T		No	ClinGen gnomAD
TCGA novel	265	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	267	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712298 rs781788823	272	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1555632029 CA400627709	272	S>C		No	ClinGen gnomAD
CA400627708 rs1555632029	272	S>F		No	ClinGen gnomAD
rs369843522 CA8712297	273	D>G		No	ClinGen ExAC gnomAD
CA400627706 rs1555632028	273	D>H		No	ClinGen gnomAD
rs1555632027 CA400627699	274	T>A		No	ClinGen gnomAD
rs1048874613 CA292994824	274	T>S		No	ClinGen Ensembl
CA8712296 rs782097534	275	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781936117 CA8712295	275	R>H		No	ClinGen ExAC TOPMed gnomAD
CA400627681 rs1416170567	277	F>S		No	ClinGen TOPMed
rs1555632025 CA400627662	279	K>N		No	ClinGen gnomAD
rs782316817 CA8712291	282	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8712292 rs782042726	282	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400627627 rs1555632016	284	E>D		No	ClinGen gnomAD
rs781954925 CA8712289	289	D>G		No	ClinGen ExAC gnomAD
rs1555632007 CA400627571	291	K>Q		No	ClinGen gnomAD
CA8712288 rs782352856	292	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400627553 rs1555632001	292	R>Q		No	ClinGen gnomAD
rs201629032 CA8712287	293	R>C		No	ClinGen ExAC gnomAD
rs782653079 CA8712286	293	R>H		No	ClinGen ExAC gnomAD
CA400626705 rs1555631986	294	L>F		No	ClinGen gnomAD
CA400626614 rs1199979105	299	Y>C		No	ClinGen TOPMed gnomAD
CA400626622 rs1555631983	299	Y>H		No	ClinGen gnomAD
rs1255412838 CA400626583	300	E>D		No	ClinGen TOPMed
CA400626572 COSM417400 rs1555631976	301	P>R	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA400626488 rs1555631966	305	L>I		No	ClinGen gnomAD
rs782453568 CA8712282	308	I>M		No	ClinGen ExAC gnomAD
CA400626385 rs1555631961	309	I>R		No	ClinGen gnomAD
CA8712280 rs144153288	312	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1188909350 CA400626270	313	S>R		No	ClinGen TOPMed gnomAD
rs781885846 CA8712278	314	G>A		No	ClinGen ExAC TOPMed gnomAD
rs199711081 CA8712279	314	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781885846 CA400626265	314	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1161978044 CA400626250	315	S>G		No	ClinGen TOPMed
CA400626229 rs1598187057	315	S>R		No	ClinGen Ensembl
rs1364902012 CA400626212	316	H>R		No	ClinGen TOPMed
TCGA novel	320	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292994673 rs928640901	320	A>T		No	ClinGen gnomAD
CA8712276 rs782058922	326	S>L		No	ClinGen ExAC gnomAD
rs1555631931 CA400625903	328	L>F		No	ClinGen gnomAD
rs781812207 CA8712275	329	S>F		No	ClinGen ExAC gnomAD
CA8712274 rs782735127	330	N>S		No	ClinGen ExAC gnomAD
CA400625812 rs1555631930	332	S>C		No	ClinGen gnomAD
CA400625747 rs1171488139	334	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1373034750 CA400625731	335	N>I		No	ClinGen TOPMed gnomAD
CA400625628 rs1313104097	339	E>Q		No	ClinGen TOPMed
rs868951850 CA400625593	340	S>N		No	ClinGen Ensembl
rs1349687794 CA400625529	342	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400625517 rs1555631914	343	N>S		No	ClinGen gnomAD
rs373576501 CA292994647	344	Y>*		No	ClinGen ESP TOPMed gnomAD
CA8712272 rs781980713	346	I>F		No	ClinGen ExAC gnomAD
CA400625399 rs1555631907	348	E>D		No	ClinGen gnomAD
rs1555631908 CA400625406	348	E>G		No	ClinGen gnomAD
rs1567945796 CA400625410	348	E>K		No	ClinGen Ensembl
rs368669703 CA292994644	350	E>K		No	ClinGen gnomAD
CA400625352 rs368669703	350	E>Q		No	ClinGen gnomAD
CA400625217 rs1308834118	355	G>R		No	ClinGen TOPMed gnomAD
CA8712270 rs782137130	356	D>A		No	ClinGen ExAC TOPMed
rs782377470 CA8712271	356	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782377470 CA400625188	356	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs782197392 CA8712266	359	G>E		No	ClinGen ExAC TOPMed gnomAD
rs782310881 CA8712267 COSM1229017	359	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1555631896 CA400625028	361	D>Y		No	ClinGen gnomAD
CA8712265 rs782596743	362	S>F		No	ClinGen ExAC gnomAD
CA8712264 rs370407276	363	N>S		No	ClinGen ESP ExAC gnomAD
rs201073917 CA8712262	364	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	364	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712260 rs202157210	368	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1251606259 CA400624787	370	P>T		No	ClinGen TOPMed gnomAD
rs1555631887 CA400624754	371	K>R		No	ClinGen gnomAD
CA8712258 rs782476433	374	G>D		No	ClinGen ExAC gnomAD
rs780968826 CA8712256	375	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555631884 CA400624638	377	T>K		No	ClinGen gnomAD
rs141994631 CA8712252	380	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8712254 rs150703362	380	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM437148 CA8712253 rs150703362	380	I>T	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs376495527 CA292994457	381	E>K		No	ClinGen ESP TOPMed
TCGA novel	383	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782096942 CA8712249	386	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	387	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712247 rs782409007	389	S>G		No	ClinGen ExAC TOPMed gnomAD
CA400624370 rs1555631867	392	D>V		No	ClinGen Ensembl
CA292994383 rs78862822	392	D>Y		No	ClinGen Ensembl
rs1386209551 CA400624331	395	L>P		No	ClinGen TOPMed
rs781927159 CA8712245	396	K>T		No	ClinGen ExAC gnomAD
rs1555631861 CA400624295	397	T>R		No	ClinGen gnomAD
CA400624262 rs1555631860	400	L>Q		No	ClinGen gnomAD
TCGA novel	403	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782332631 CA8712244	403	E>Q		No	ClinGen ExAC gnomAD
CA400624199 rs1555631856	405	C>R		No	ClinGen gnomAD
CA400624188 rs1373349908	405	C>W		No	ClinGen TOPMed
rs1555631850 CA400624172	407	L>M		No	ClinGen gnomAD
rs144767742 CA292994347	408	S>F		No	ClinGen ESP TOPMed
rs782624474 CA8712242	409	A>V		No	ClinGen ExAC TOPMed
CA400624106 rs1305989148	412	S>N		No	ClinGen TOPMed
rs1555631841 CA400624060	415	D>G		No	ClinGen gnomAD
TCGA novel	416	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	416	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199537232 CA8712240	418	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488354919 CA400624012	419	C>F		No	ClinGen TOPMed gnomAD
TCGA novel	421	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212407848 COSM982887 CA400623972	422	Y>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs142061807 CA8712238	426	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782705677 CA8712236	427	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782705677 CA8712237	427	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1555631828 CA400623891	429	E>K		No	ClinGen gnomAD
rs782479358 CA8712235 COSM1385282	430	T>M	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400623866 rs1373474874	432	G>R		No	ClinGen TOPMed gnomAD
CA400623867 rs1373474874	432	G>W		No	ClinGen TOPMed gnomAD
CA8712233 rs138840560	434	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712232 rs782152894	436	V>A		No	ClinGen ExAC TOPMed gnomAD
CA400623824 rs1555631813	438	K>E		No	ClinGen gnomAD
CA400623816 rs782037562	439	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782037562 CA8712231	439	L>I		No	ClinGen ExAC TOPMed gnomAD
CA400623794 rs1441464839	442	I>T		No	ClinGen TOPMed
rs144995761 CA8712228	444	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712226 rs782248936	446	P>S		No	ClinGen ExAC gnomAD
rs1567945219 CA400623764	447	E>G		No	ClinGen Ensembl
CA400623751 rs1359937287	449	L>F		No	ClinGen TOPMed
rs560636738 CA8712225	450	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782401395 CA8712224	450	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8712221 rs141955251	453	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782431961 CA8712219	454	V>A		No	ClinGen ExAC TOPMed gnomAD
CA400623722 rs1275372730	454	V>L		No	ClinGen TOPMed
CA8712216 rs782815580	458	S>R		No	ClinGen ExAC gnomAD
CA8712214 rs782172907	461	E>D		No	ClinGen ExAC TOPMed gnomAD
rs928666699 CA292994145	461	E>K		No	ClinGen Ensembl
rs1419817200 CA400623664	462	V>A		No	ClinGen TOPMed
rs1187951291 CA400623667	462	V>M		No	ClinGen TOPMed
rs1555631791 CA400623659	463	D>G		No	ClinGen gnomAD
CA8712213 rs150175049	463	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782103696 CA8712212	464	S>L		No	ClinGen ExAC gnomAD
CA400623644 rs1419685509	466	V>M		No	ClinGen TOPMed
CA400623636 rs1555631787	467	Q>*		No	ClinGen gnomAD
rs1461948129 CA400623635	467	Q>P		No	ClinGen TOPMed gnomAD
CA8712210 rs140876223	469	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA292994128 rs140876223	469	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289468250 CA400623598	472	P>L		No	ClinGen TOPMed
rs1555631778 CA400623601	472	P>S		No	ClinGen gnomAD
CA8712208 rs561809518	473	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8712205 rs781949624	475	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782462824 CA8712204	475	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400623573 rs1555631770	477	G>R		No	ClinGen gnomAD
rs369724904 CA8712202	478	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs957537041 CA292994103	480	I>T		No	ClinGen Ensembl
rs1295566420 CA400623551	480	I>V		No	ClinGen TOPMed
CA8712201 rs782438148	482	C>S		No	ClinGen ExAC TOPMed gnomAD
CA400623534 rs782438148	482	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs782223833 CA292994096	483	V>I		No	ClinGen Ensembl
CA400623524 rs1555631763	484	Y>H		No	ClinGen gnomAD
CA8712199 rs782586743	484	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA400623516 rs1555631759	485	V>L		No	ClinGen gnomAD
CA400623512 rs1217353122	486	Y>N		No	ClinGen TOPMed
rs1555631757 CA400623501	487	L>P		No	ClinGen gnomAD
rs781845561 CA8712197	487	L>V		No	ClinGen ExAC gnomAD
CA400623498 rs1242120692	488	I>V		No	ClinGen TOPMed
CA8712196 rs782647227	490	P>S		No	ClinGen ExAC gnomAD
rs1485148498 CA400623479	491	L>F		No	ClinGen TOPMed
rs1485148498 CA400623480	491	L>V		No	ClinGen TOPMed
rs541701774 CA8712195	492	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150988396 CA8712193	493	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712194 rs150988396	493	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA400623469 rs1555631749	493	H>P		No	ClinGen gnomAD
CA8712192 rs782044568 CA400623466	493	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA292994053 rs35949385	494	Y>*		No	ClinGen Ensembl
rs781799907 CA8712191	494	Y>C		No	ClinGen ExAC gnomAD
rs372604630 CA8712188	496	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781911990 CA8712190	496	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8712186 rs782162670	497	G>*		No	ClinGen ExAC gnomAD
CA8712187 rs782162670	497	G>R		No	ClinGen ExAC gnomAD
rs1555631728 CA400623419	501	G>A		No	ClinGen gnomAD
rs1555631730 CA400623423	501	G>R		No	ClinGen gnomAD
CA292994005 rs1019583009	502	I>V		No	ClinGen Ensembl
CA400623403 rs1555631725	504	L>F		No	ClinGen gnomAD
rs143536713 CA8712182	512	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8712181 rs782380730	514	W>S		No	ClinGen ExAC gnomAD
CA400623328 rs1356560375	515	F>V		No	ClinGen TOPMed
rs1555631721 CA400623317	516	F>C		No	ClinGen gnomAD
CA400623309 rs1441966306	517	T>I		No	ClinGen TOPMed
CA400623305 rs1555631714	518	P>Q		No	ClinGen gnomAD
rs1555631713 CA400623302	519	P>A		No	ClinGen gnomAD
CA8712179 rs182908005	519	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs182908005 CA400623299	519	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1376172607 CA400623293	520	S>T		No	ClinGen TOPMed
TCGA novel	521	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8712178 rs782558412	521	A>V		No	ClinGen ExAC gnomAD
rs1224769969 CA400623276	522	H>R		No	ClinGen TOPMed gnomAD
CA400623222 rs1555631704	526	K>R		No	ClinGen gnomAD
rs539268909 CA8712176	527	L>V		No	ClinGen ExAC gnomAD
rs1598185513 CA400623180	529	K>N		No	ClinGen Ensembl
rs545641491 CA8712175	530	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA400623165 rs1555631700	531	L>M		No	ClinGen gnomAD
rs781841770 CA8712174	532	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8712173 rs369287988	532	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147787450 CA8712172	533	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA400623123 rs1281989280	534	W>*		No	ClinGen TOPMed
CA8712170 rs375219525	534	W>G		No	ClinGen ESP ExAC gnomAD
CA8712169 rs375219525	534	W>R		No	ClinGen ESP ExAC gnomAD
CA8712168 rs781952618	535	N>S		No	ClinGen ExAC TOPMed gnomAD
CA400623099 rs1203594317	536	T>K		No	ClinGen TOPMed gnomAD
CA400623073 rs953026926	538	S>F		No	ClinGen TOPMed gnomAD
CA292993912 rs953026926	538	S>Y		No	ClinGen TOPMed gnomAD
CA400623058 rs1555631688	540	D>G		No	ClinGen gnomAD
CA400623021 rs1471154615	542	K>E		No	ClinGen TOPMed
CA292993900 rs1027373780	544	P>T		No	ClinGen Ensembl
CA400622929 rs1567944462	546	I>T		No	ClinGen Ensembl
CA400622903 rs1394600225	547	L>P		No	ClinGen TOPMed
rs1555631686 CA400622908	547	L>V		No	ClinGen gnomAD
rs1219013823 CA400620901	549	G>A		No	ClinGen gnomAD
CA8712134 rs575665022	550	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	551	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598165425 CA400620881	552	N>D		No	ClinGen Ensembl
CA8712133 rs773496165	552	N>S		No	ClinGen ExAC gnomAD
CA8712132 rs769994511	554	I>V		No	ClinGen ExAC gnomAD
CA8712131 rs373904752	555	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA400620811 rs1276487937	558	D>N		No	ClinGen gnomAD
rs781585168 CA8712130	559	P>L		No	ClinGen ExAC gnomAD
CA400620770 rs1567933168	561	T>N		No	ClinGen Ensembl
rs747438891 CA400620759	562	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8712128 rs747438891	562	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1289062921 CA400620749	563	H>N		No	ClinGen TOPMed
rs780257250 CA8712127	563	H>R		No	ClinGen ExAC gnomAD
rs1360731326 COSM982884 CA400620731	564	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1457951146 CA400620729	565	T>A		No	ClinGen gnomAD
CA400620720 rs1413107907	565	T>I		No	ClinGen gnomAD
rs765675752 CA8712124	566	L>F		No	ClinGen ExAC TOPMed gnomAD
CA400620683 rs1173630976	569	S>A		No	ClinGen gnomAD
CA400620665 rs983549937	571	F>I		No	ClinGen TOPMed
CA400620652 rs1191300302	571	F>L		No	ClinGen TOPMed
CA292987819 rs983549937	571	F>V		No	ClinGen TOPMed
rs1464647908 CA400620660	571	F>Y		No	ClinGen TOPMed
CA8712123 rs538781023	573	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421640229 CA400620550	578	T>I		No	ClinGen TOPMed gnomAD
rs1421640229 CA400620547	578	T>N		No	ClinGen TOPMed gnomAD
rs566517528 CA8712122	580	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs566517528 CA8712121	580	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA400620505 rs1257065908	581	L>H		No	ClinGen gnomAD
CA8712119 rs377159723	585	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	587	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	588	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534574993 COSM437147 CA8712118	590	R>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1219927246 CA400620375	592	A>T		No	ClinGen gnomAD
CA8712115 rs770941487	594	Y>C		No	ClinGen ExAC gnomAD
CA400620350 rs770941487	594	Y>S		No	ClinGen ExAC gnomAD
rs748267342 CA8712114	595	N>D		No	ClinGen ExAC TOPMed gnomAD
rs776819423 CA8712113	595	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	596	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400620330 rs1598165163	597	P>S		No	ClinGen Ensembl
CA400620258 rs1315800807	604	I>M		No	ClinGen TOPMed
TCGA novel	606	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747185675 CA8712111	608	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8712112 rs768969779	608	I>V		No	ClinGen ExAC gnomAD
rs1283332604 CA400620198	609	Y>C		No	ClinGen TOPMed
rs943126764 CA292987764	609	Y>H		No	ClinGen TOPMed
CA8712109 rs758704999	612	S>L		No	ClinGen ExAC gnomAD
CA400619772 rs1413356420	613	D>N		No	ClinGen gnomAD
CA400619746 rs1471698875	614	S>R		No	ClinGen gnomAD
CA400619744 rs1567932871	615	K>E		No	ClinGen Ensembl
rs976103632 CA292987262	616	I>L		No	ClinGen gnomAD
CA400619561 rs1351916907	625	R>*		No	ClinGen gnomAD
rs1312121433 CA400619558	625	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8712089 rs771489710	627	R>*		No	ClinGen ExAC gnomAD
CA400619408 rs1367476176	635	I>T		No	ClinGen gnomAD
rs749793993 CA8712088	637	I>V		No	ClinGen ExAC TOPMed
CA8712086 rs755588776	638	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755588776 CA400619374	638	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1305422135 CA400619329	641	Q>*		No	ClinGen TOPMed
CA8712082 rs150065693	647	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309146440 CA400619239	648	K>E		No	ClinGen TOPMed
rs766262257 CA8712081	649	A>S		No	ClinGen ExAC gnomAD
rs763050400 CA8712080	649	A>V		No	ClinGen ExAC gnomAD
TCGA novel	654	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA292987218 rs1006313113	657	E>D		No	ClinGen TOPMed gnomAD
CA8712078 rs765173455	657	E>K		No	ClinGen ExAC gnomAD
CA292987217 rs552910392	658	E>Q		No	ClinGen 1000Genomes
CA400619065 rs1335407393 COSM982882	659	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs536262813 CA8712075	660	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536262813 CA8712076	660	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8712077 rs760701008	660	P>S		No	ClinGen ExAC gnomAD
CA400619006 rs1312177858	664	G>E		No	ClinGen gnomAD
CA292987187 rs568319403	664	G>R		No	ClinGen 1000Genomes
rs1312177858 CA400619004	664	G>V		No	ClinGen gnomAD
CA8712071 rs749599949	666	E>*		No	ClinGen ExAC gnomAD
CA8712070 rs749599949	666	E>K		No	ClinGen ExAC gnomAD
rs778162445 CA8712068	667	D>A		No	ClinGen ExAC TOPMed gnomAD
CA292987159 rs770291242	667	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1410986004 CA400618968	667	D>H		No	ClinGen TOPMed
CA400618938 rs1299871407	669	K>R		No	ClinGen TOPMed gnomAD
CA400618936 rs1299871407	669	K>T		No	ClinGen TOPMed gnomAD
rs1454071541 CA400618907	671	P>T		No	ClinGen gnomAD
CA292987158 rs993595952	672	P>L		No	ClinGen gnomAD
rs1451184831 CA400618871	673	R>C		No	ClinGen Ensembl
CA8712064 rs201441573	673	R>H		No	ClinGen ExAC TOPMed gnomAD
CA400618852 rs1192260501	674	P>R		No	ClinGen gnomAD
rs754733485 CA8712063	674	P>S		No	ClinGen ExAC gnomAD
CA400618796 rs1429812985	677	G>R		No	ClinGen TOPMed
rs1476672457 CA400618774	678	T>A		No	ClinGen gnomAD
rs117237160 CA8712062	678	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA292987156 rs938294341	679	R>G		No	ClinGen TOPMed
rs1219156769 CA400618749	679	R>T		No	ClinGen TOPMed
CA400618674 rs758281484	683	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8712060 rs758281484	683	R>G		No	ClinGen ExAC gnomAD
CA8712059 rs750193647	683	R>Q		No	ClinGen ExAC gnomAD
CA8712058 rs142385864	684	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757198795 CA8712057	686	I>L		No	ClinGen ExAC gnomAD
CA400618574 rs1216862844	688	Y>C		No	ClinGen gnomAD
rs373317011 CA8712055	689	L>F		No	ClinGen ESP ExAC gnomAD
CA292987144 rs373317011	689	L>I		No	ClinGen ESP ExAC gnomAD
CA292987125 rs780768363	695	R>Q		No	ClinGen Ensembl
CA400618450 rs1463552550	696	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766535813 CA8712051	699	E>K		No	ClinGen ExAC gnomAD
TCGA novel	700	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423618157 CA400618281	704	F>L		No	ClinGen gnomAD
CA400618263 rs1478466746	705	I>L		No	ClinGen TOPMed
rs1254560913 COSM561923 CA400618202	708	S>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8712049 rs376846523	709	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs560302753 CA8712048	711	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150878483 CA8712047	712	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399736159 CA400618110	716	K>R		No	ClinGen TOPMed
rs768286288 CA8712045	718	S>L		No	ClinGen ExAC TOPMed gnomAD
CA400618047 rs1244406148	722	G>E		No	ClinGen gnomAD
rs1400313288 CA400618036	723	G>D		No	ClinGen TOPMed
rs779884194 CA8712043	724	K>R		No	ClinGen ExAC gnomAD
rs933793567 CA292987086	726	G>R		No	ClinGen Ensembl
CA293018544 rs987565956	729	P>A		No	ClinGen TOPMed
CA400636782 rs1198271327	729	P>L		No	ClinGen gnomAD
CA400636774 rs1269779283	730	A>P		No	ClinGen TOPMed gnomAD
CA400636776 rs1269779283	730	A>T		No	ClinGen TOPMed gnomAD
rs375805658 CA293018525	731	H>Y		No	ClinGen ESP TOPMed gnomAD
CA8712014 rs751684629	734	H>Y		No	ClinGen ExAC gnomAD
rs780091722 CA8712013	735	N>S		No	ClinGen ExAC gnomAD
rs758613245 CA8712012	736	S>N		No	ClinGen ExAC gnomAD
rs750661894 CA8712011	737	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8712008 rs372872428	738	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304403187 CA400636657	738	S>P		No	ClinGen gnomAD
rs771619508 CA8712004	739	G>E		No	ClinGen ExAC gnomAD
rs552153537 CA8712005 CA400636649	739	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386324236 CA400636643	740	H>N		No	ClinGen TOPMed gnomAD
CA400636641 rs1285450867	740	H>R		No	ClinGen TOPMed
CA400636633 rs1306370343	741	L>R		No	ClinGen Ensembl
CA293018479 rs780677398	742	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400636623 rs1286032143	743	H>R		No	ClinGen TOPMed
COSM3421789 rs539307138 CA8712003	745	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA293018477 rs532625988	745	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1200195656 CA400636575	746	S>R		No	ClinGen gnomAD
rs1379497552 CA400636593	746	S>R		No	ClinGen gnomAD
rs142834058 CA293018466	749	K>R		No	ClinGen ESP TOPMed gnomAD
rs1567927677 CA400636500	750	G>S		No	ClinGen Ensembl
rs1212077111 CA400636479	751	S>G		No	ClinGen TOPMed
rs1448474783 CA400636373	756	M>L		No	ClinGen TOPMed gnomAD
rs774078812 CA8712002	756	M>T		No	ClinGen ExAC TOPMed gnomAD
CA400636340 rs1199847584	757	S>L		No	ClinGen gnomAD
rs1342742870 CA400636335	758	Q>E		No	ClinGen gnomAD
rs1284719548 CA400636246	762	K>R		No	ClinGen gnomAD
CA400636190 rs1471733335	765	A>E		No	ClinGen gnomAD
rs1223583330 CA400636199	765	A>T		No	ClinGen gnomAD
CA400636166 rs1473154591	766	G>D		No	ClinGen TOPMed
rs1598157071 CA400636135	768	V>G		No	ClinGen Ensembl
rs148096884 COSM193057 CA8712000	768	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1333899168 CA400636103	769	R>Q		No	ClinGen gnomAD
CA8711997 rs748070421	769	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758516396 CA8711995	772	M>V		No	ClinGen ExAC gnomAD
CA8711994 rs750420735	773	L>V		No	ClinGen ExAC TOPMed gnomAD
CA293018437 rs1047527967	774	L>P		No	ClinGen TOPMed gnomAD
CA8711990 rs764550614	775	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM707644 CA8711991 rs149542859	775	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs761055965 CA8711989	776	Y>C		No	ClinGen ExAC gnomAD
rs527473632 CA8711987	778	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8711986 rs527473632 COSM1229018	778	V>M	Variant assessed as Somatic; 0.000139 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8711984 rs770661299	779	Y>C		No	ClinGen ExAC gnomAD
CA400635887 rs1316706004	780	M>V		No	ClinGen gnomAD
CA8711981 rs769579384	783	C>Y		No	ClinGen ExAC gnomAD
rs1034722529 CA293018345	784	V>A		No	ClinGen Ensembl
rs1254323004 CA400635782	786	Q>R		No	ClinGen TOPMed
CA400635748 rs1385624297	788	S>I		No	ClinGen gnomAD
rs561952887 CA8711978	789	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8711977 rs377267817	789	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs146986507 CA8711976	790	S>I		No	ClinGen ESP ExAC TOPMed
rs757621344 CA8711975	790	S>R		No	ClinGen ExAC TOPMed gnomAD
CA400635734 rs146986507	790	S>T		No	ClinGen ESP ExAC TOPMed
rs1479188044 CA400635729	791	P>S		No	ClinGen TOPMed
TCGA novel	792	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172578472 CA400635717	793	R>G		No	ClinGen gnomAD
CA8711973 rs547970919	793	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1162450982 CA400635707	794	S>I		No	ClinGen gnomAD
rs200257391 CA293018296	795	P>L		No	ClinGen TOPMed gnomAD
rs1293210679 CA400635702	795	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	796	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400635695 rs1567927350	796	L>P		No	ClinGen Ensembl
rs764443710 CA293018287	799	A>E		No	ClinGen ExAC TOPMed gnomAD
CA400635676 rs1555628095	799	A>T		No	ClinGen Ensembl
CA8711971 rs764443710	799	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768113401 CA8711969	801	S>R		No	ClinGen ExAC gnomAD
rs1288618778 CA400635614	803	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8711968 rs755414173	803	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751134865 CA8711967	805	A>S		No	ClinGen ExAC gnomAD
rs1361973698 CA400635589	805	A>V		No	ClinGen gnomAD
rs1598156753 CA400635575	806	G>V		No	ClinGen Ensembl
CA293018271 rs946178461	807	K>T		No	ClinGen TOPMed gnomAD
rs1216355576 CA400634290	809	L>W		No	ClinGen gnomAD
rs749893724 CA8711947	814	P>H		No	ClinGen ExAC gnomAD
rs1033345325 CA293013964	814	P>T		No	ClinGen gnomAD
CA400634231 rs1242047289	815	S>A		No	ClinGen TOPMed
rs1312093445 CA400634223	816	E>K		No	ClinGen gnomAD
TCGA novel	816	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000035027 CA293013961	817	E>K		No	ClinGen Ensembl
CA293013958 rs138826492	819	E>K		No	ClinGen ESP TOPMed
rs761442085 CA8711944	822	A>G		No	ClinGen ExAC gnomAD
rs1265379120 CA400634117	822	A>S		No	ClinGen gnomAD
CA8711941 rs760459775	826	A>V		No	ClinGen ExAC gnomAD
rs376329461 CA8711940	831	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs17853690 CA293013939	833	W>*		No	ClinGen Ensembl
TCGA novel	833	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454304526 CA400633757	838	E>G		No	ClinGen TOPMed gnomAD
rs1009635945 CA293013937	840	Y>C		No	ClinGen Ensembl
rs772092371 CA8711939	842	S>Y		No	ClinGen ExAC gnomAD
rs770203698 CA8711936	845	V>L		No	ClinGen ExAC gnomAD
CA8711935 rs372393627	849	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8711933 rs768918909	852	K>E		No	ClinGen ExAC gnomAD
rs1179613164 CA400633285	855	K>N		No	ClinGen TOPMed
rs1241776217 CA400633219	857	K>M		No	ClinGen gnomAD
rs1194897018 CA400632277	859	P>S		No	ClinGen TOPMed
CA400632262 rs1383437841	860	Y>C		No	ClinGen gnomAD
CA8711909 rs772633604	862	M>V		No	ClinGen ExAC gnomAD
CA8711908 rs150936754	866	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166061334 CA400632150	866	T>I		No	ClinGen TOPMed
rs779333729 CA8711907	868	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774508538 CA293011510	870	L>I		No	ClinGen gnomAD
CA400632064 rs1383818798	871	D>G		No	ClinGen gnomAD
rs866465491 CA293011507	872	M>V		No	ClinGen TOPMed
CA8711903 rs755765619	874	V>A		No	ClinGen ExAC gnomAD
CA8711904 rs200065155	874	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400631980 rs1179750391	876	V>M		No	ClinGen gnomAD
rs1420913693 CA400631961	877	P>T		No	ClinGen gnomAD
rs1251539778 CA400631945	878	K>E		No	ClinGen gnomAD
rs959334209 CA293011496	880	L>R		No	ClinGen Ensembl
rs572035181 CA8711900	882	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA293011489 rs1000935540	882	A>T		No	ClinGen TOPMed
CA400631854 rs572035181	882	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs978851255 CA293011483	883	F>S		No	ClinGen TOPMed
CA400631780 rs751559038	886	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA293011479 rs968646515	886	Y>C		No	ClinGen gnomAD
rs766293684 CA400631770	887	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8711898 rs766293684	887	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1236295696 CA400631755	888	D>N		No	ClinGen gnomAD
rs1228041793 CA400631717	889	H>Q		No	ClinGen TOPMed
CA8711896 rs112030007	890	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753924164 CA8711875	898	M>V		No	ClinGen ExAC gnomAD
rs111870390 CA293007343	899	S>F		No	ClinGen Ensembl
rs1427992422 CA400629397	899	S>T		No	ClinGen gnomAD
CA400629347 rs1191384101	901	N>S		No	ClinGen TOPMed
TCGA novel	903	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	907	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775710734 CA8711872	911	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1169214382 CA400629120	912	M>I		No	ClinGen TOPMed
rs1371254565 CA400628985	918	G>S		No	ClinGen TOPMed
CA293007324 rs888933490	919	K>E		No	ClinGen Ensembl
CA8711871 rs767684601	922	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1175816228 CA400628809	925	A>G		No	ClinGen gnomAD
CA400628815 rs1386302726	925	A>S		No	ClinGen gnomAD
rs1171042412 CA400628728	929	G>E		No	ClinGen TOPMed
CA8711870 rs759932047	931	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8711869 rs771396323	932	G>D		No	ClinGen ExAC gnomAD
CA8711868 rs771396323	932	G>V		No	ClinGen ExAC gnomAD
TCGA novel	934	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336602260 CA400627541	939	R>Q		No	ClinGen gnomAD
CA400627542 rs1327535633	939	R>W	Variant assessed as Somatic; 6.025e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400627518 rs765035820	942	C>F		No	ClinGen ExAC TOPMed gnomAD
rs765035820 CA8711857	942	C>S		No	ClinGen ExAC TOPMed gnomAD
CA400627506 rs756216957	944	A>G		No	ClinGen ExAC TOPMed gnomAD
rs756216957 CA8711856	944	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400627501 rs1226176012	945	D>G		No	ClinGen TOPMed
CA8711852 rs774642240	952	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8711850 rs763173601	953	A>T		No	ClinGen ExAC gnomAD
CA8711849 rs369678103	957	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369678103 CA400627422	957	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770387819 CA8711848	958	E>K		No	ClinGen ExAC gnomAD
rs1231568950 CA400627409	959	D>H		No	ClinGen TOPMed gnomAD
CA8711846 rs377117417	960	D>N		No	ClinGen ESP ExAC gnomAD
CA400627389 rs1340438363	961	A>V		No	ClinGen TOPMed gnomAD
CA8711845 rs768480907	964	P>T		No	ClinGen ExAC gnomAD
CA400627364 rs1385598398	965	S>I		No	ClinGen TOPMed gnomAD
rs779514632 CA293003855	966	G>A		No	ClinGen ExAC gnomAD
CA400627361 rs760485376	966	G>R		No	ClinGen TOPMed gnomAD
rs779514632 CA8711843	966	G>V		No	ClinGen ExAC gnomAD
CA293003857 rs760485376	966	G>W		No	ClinGen TOPMed gnomAD
CA8711842 rs771924106	967	G>E		No	ClinGen ExAC gnomAD
CA400627345 rs1410722480	969	K>Q		No	ClinGen gnomAD
rs745608322 CA8711841	969	K>R		No	ClinGen ExAC gnomAD
CA400627337 rs1162693157	970	Q>E		No	ClinGen TOPMed gnomAD
CA293003828 rs1002539870	970	Q>R		No	ClinGen TOPMed gnomAD
CA400627329 rs1359764941	971	L>F		No	ClinGen gnomAD
CA400627328 rs1412071716	971	L>H		No	ClinGen TOPMed
rs937391194 CA293003823	973	P>S		No	ClinGen TOPMed
CA8711839 rs757161133	975	A>S		No	ClinGen ExAC gnomAD
rs757161133 CA8711840	975	A>T		No	ClinGen ExAC gnomAD
CA400627305 rs1181947083	975	A>V		No	ClinGen gnomAD
rs1469147124 CA400627298	976	E>D		No	ClinGen gnomAD
CA293002806 rs765694640	979	V>F		No	ClinGen ExAC TOPMed gnomAD
rs765694640 CA8711813	979	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762202574 CA8711812	983	R>*		No	ClinGen ExAC TOPMed gnomAD
rs754418388 CA8711811	983	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1430016995 CA400626436	984	T>A		No	ClinGen gnomAD
rs760270070 CA8711809	987	I>L		No	ClinGen ExAC gnomAD
CA8711807 rs573367206	988	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759103464 CA8711806	989	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400626188 rs1173868987	992	D>E		No	ClinGen gnomAD
rs770723288 CA8711804	1003	A>V		No	ClinGen ExAC gnomAD
rs1186278873 CA400625801	1007	E>A		No	ClinGen TOPMed gnomAD
rs1186278873 CA400625798	1007	E>G		No	ClinGen TOPMed gnomAD
rs374086542 CA8711801	1013	I>F		No	ClinGen ESP ExAC gnomAD
rs1209478716 CA400625606	1013	I>N		No	ClinGen gnomAD
rs374086542 CA8711802	1013	I>V		No	ClinGen ESP ExAC gnomAD
CA8711799 rs144314614	1014	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA293002766 rs1044819175	1016	V>I		No	ClinGen TOPMed gnomAD
CA400625479 rs1324533393	1018	N>S		No	ClinGen gnomAD
CA400625271 rs1290508112	1026	E>V		No	ClinGen gnomAD
CA400625172 rs1452473009	1030	C>G		No	ClinGen TOPMed
CA8711794 rs371854163	1033	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400625090 rs371854163	1033	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024742733 CA293002754	1033	T>P		No	ClinGen Ensembl
CA293002733 rs1057510661	1035	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400624972 rs1333747594	1038	I>V		No	ClinGen gnomAD
rs1427071547 CA400624945	1039	P>A		No	ClinGen gnomAD
rs368259551 CA8711793	1040	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756564233 CA8711792	1041	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400624808 rs1241437866	1045	R>*		No	ClinGen gnomAD
rs984263684 CA293002716	1045	R>Q		No	ClinGen TOPMed
CA8711790 rs766938179	1046	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1046	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293002018 rs377522800	1047	W>C		No	ClinGen ESP
rs1276580730 CA400624413	1051	R>*		No	ClinGen TOPMed gnomAD
CA8711775 rs756431036	1051	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373593978 CA8711774	1053	P>A		No	ClinGen ESP ExAC TOPMed
rs751042357 CA8711771	1055	H>L		No	ClinGen ExAC TOPMed gnomAD
CA8711772 rs369249908	1055	H>Y		No	ClinGen ESP ExAC gnomAD
CA8711769 rs762584565	1056	V>M		No	ClinGen ExAC TOPMed gnomAD
CA293001986 rs942162119 COSM982875	1061	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8711768 rs750286588	1061	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1485039898 CA400624187	1069	V>L		No	ClinGen gnomAD
rs150826013 CA8711766	1071	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776457158 CA8711765	1072	V>A		No	ClinGen ExAC TOPMed gnomAD
rs371512535 CA400624138	1073	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371512535 CA8711764	1073	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8711763 rs759739317	1076	D>N		No	ClinGen ExAC gnomAD
rs1179734096 CA400624078	1077	W>C		No	ClinGen gnomAD
TCGA novel	1079	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293001982 rs141393724	1079	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8711762 rs141393724	1079	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA400623907 rs1348138952	1087	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771144091 COSM3717530 CA8711740	1089	V>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763075038 CA8711739	1092	M>T		No	ClinGen ExAC gnomAD
TCGA novel	1096	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293001415 rs929832846	1097	D>N		No	ClinGen TOPMed gnomAD
rs773335087 CA8711738	1098	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8711737 rs150394111	1099	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA400622790 rs1389523600	1099	Y>H		No	ClinGen gnomAD
CA400622730 rs1468491773	1101	T>S		No	ClinGen gnomAD
rs781612180 CA8711735	1102	I>V		No	ClinGen ExAC TOPMed gnomAD
rs543369300 CA8711734	1105	S>A		No	ClinGen ExAC TOPMed gnomAD
CA8711733 rs747520447	1107	M>V		No	ClinGen ExAC gnomAD
rs1376656546 CA400622606	1108	D>V		No	ClinGen TOPMed
CA8711730 rs745343824	1109	P>L		No	ClinGen ExAC TOPMed gnomAD
CA293001400 rs745343824	1109	P>R		No	ClinGen ExAC TOPMed gnomAD
rs757927643 CA8711731	1109	P>S		No	ClinGen ExAC gnomAD
rs757927643 CA8711732	1109	P>T		No	ClinGen ExAC gnomAD
CA8711729 rs778477556	1110	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400622547 rs1202421813	1112	T>I		No	ClinGen gnomAD
rs1238248246 CA400622536	1113	S>C		No	ClinGen TOPMed
rs756918458 CA8711728	1114	C>R		No	ClinGen ExAC gnomAD
CA400622452 rs1598108044	1118	D>A		No	ClinGen Ensembl
CA8711727 rs753642783	1118	D>E		No	ClinGen ExAC gnomAD
CA400622457 rs1280248302	1118	D>Y		No	ClinGen TOPMed gnomAD
rs763984447 CA400622402	1121	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763984447 CA8711726	1121	V>M		No	ClinGen ExAC TOPMed gnomAD
CA400622388 rs1231341349	1122	E>K		No	ClinGen gnomAD
TCGA novel	1124	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867853445 CA293001378	1127	P>L		No	ClinGen Ensembl
CA8711723 rs752699534	1128	P>R		No	ClinGen ExAC gnomAD

No associated diseases with Q8IWB9

1 regional properties for Q8IWB9

Type	Name	Position	InterPro Accession
domain	Synaptotagmin-like mitochondrial-lipid-binding domain	816 - 1101	IPR031468

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein Nucleus membrane ; Multi-pass membrane protein	Enriched at the nucleus-vacuole junction (PubMed:22250200) During endoplasmic reticulum (ER) stress, localizes to ER-Golgi contacts (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

1 GO annotations of molecular function

Name	Definition
lipid binding	Binding to a lipid.

3 GO annotations of biological process

Name	Definition
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
sphingolipid metabolic process	The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P41800	MMM1	Maintenance of mitochondrial morphology protein 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q6ZPJ0	Tex2	Testis-expressed protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTSLYGRHAE	KTTDMPKPSA	PKVHVQRSVS	RDTIAIHFSA	SGEEEEEEEE	EFREYFEEGL
70	80	90	100	110	120
DDQSIVTGLE	AKEDLYLEPQ	VGHDPAGPAA	SPVLADGLSV	SQAPAILPVS	KNTVKLLESP
130	140	150	160	170	180
VPAAQVLSTV	PLAVSPGSSS	SGPLASSPSV	SSLSEQKTSS	SSPLSSPSKS	PILSSSASTS
190	200	210	220	230	240
TLSSAKPFMS	LVKSLSTEVE	PKESPHPARH	RHLMKTLVKS	LSTDTSRQES	DTVSYKPPDS
250	260	270	280	290	300
KLNLHLFKQF	TQPRNTGGDS	KTAPSSPLTS	PSDTRSFFKV	PEMEAKIEDT	KRRLSEVIYE
310	320	330	340	350	360
PFQLLSKIIG	EESGSHRPKA	LSSSASELSN	LSSLNGHLES	NNNYSIKEEE	CDSEGDGYGS
370	380	390	400	410	420
DSNIPRSDHP	KSTGEPTREI	ELKSSQGSSL	KDLGLKTSSL	VLEKCSLSAL	VSKEDEEFCE
430	440	450	460	470	480
LYTEDFDLET	EGESKVDKLS	DIPLKPEVLA	EDGVVLDSED	EVDSAVQHPE	LPVKTLGFFI
490	500	510	520	530	540
MCVYVYLILP	LPHYVSGLFL	GIGLGFMTAV	CVIWFFTPPS	AHKYHKLHKN	LRHWNTRSLD
550	560	570	580	590	600
IKEPEILKGW	MNEIYNYDPE	TYHATLTHSV	FVRLEGGTLR	LSKPNKNISR	RASYNEPKPE
610	620	630	640	650	660
VTYISQKIYD	LSDSKIYLVP	KTLARKRIWN	KKYPICIELG	QQDDFMSKAQ	TDKETSEEKP
670	680	690	700	710	720
PAEGSEDPKK	PPRPQEGTRS	SQRDQILYLF	GRTGREKEEW	FRRFILASKL	KSEIKKSSGV
730	740	750	760	770	780
SGGKPGLLPA	HSRHNSPSGH	LTHSRSSSKG	SVEEIMSQPK	QKELAGSVRQ	KMLLDYSVYM
790	800	810	820	830	840
GRCVPQESRS	PQRSPLQSAE	SSPTAGKKLP	EVPPSEEEEQ	EAWVNALLGR	IFWDFLGEKY
850	860	870	880	890	900
WSDLVSKKIQ	MKLSKIKLPY	FMNELTLTEL	DMGVAVPKIL	QAFKPYVDHQ	GLWIDLEMSY
910	920	930	940	950	960
NGSFLMTLET	KMNLTKLGKE	PLVEALKVGE	IGKEGCRPRA	FCLADSDEES	SSAGSSEEDD
970	980	990	1000	1010	1020
APEPSGGDKQ	LLPGAEGYVG	GHRTSKIMRF	VDKITKSKYF	QKATETEFIK	KKIEEVSNTP
1030	1040	1050	1060	1070	1080
LLLTVEVQEC	RGTLAVNIPP	PPTDRVWYGF	RKPPHVELKA	RPKLGEREVT	LVHVTDWIEK
1090	1100	1110	1120
KLEQEFQKVF	VMPNMDDVYI	TIMHSAMDPR	STSCLLKDPP	VEAADQP