AiPD: Autoinhibited Protein Database

Q14703

Gene name	MBTPS1
Protein name	Membrane-bound transcription factor site-1 protease
Names	Endopeptidase S1P, Subtilisin/kexin-isozyme 1, SKI-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8720
EC number	3.4.21.112: Serine endopeptidases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

382-464 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

382-464 (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 Q14703

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14703-F1	Predicted				AlphaFoldDB

1127 variants for Q14703

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000767392 rs771258750	96	D>*	Spondyloepiphyseal dysplasia, kondo-fu type [ClinVar]	Yes	ClinVar dbSNP
RCV001254031 rs2086110956	319	V>F	Spondyloepiphyseal dysplasia, kondo-fu type [ClinVar]	Yes	ClinVar dbSNP
RCV000767393 VAR_082197 rs1226321681 CA396935384	365	D>G	Spondyloepiphyseal dysplasia, kondo-fu type SEDKF; due to a nucleotide substitution that creates a dominant splice donor site in exon 9; two different type of transcripts are produced, a major non-functional alternatively spliced transcript with a 41-bp deletion of exon 9, loss of S-414 in the catalytic triad and premature truncation and a normally spliced transcript with variant G-365; the transcript with G-365 produces a catalytically active protein but is the less abundant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1273822522 RCV001254030	665	Y>*	Spondyloepiphyseal dysplasia, kondo-fu type [ClinVar]	Yes	ClinVar dbSNP
VAR_087565	878	S>R	SEDKF; unknown pathological significance [UniProt]	Yes	UniProt
RCV001253824 rs2085516391 RCV002252295	983	W>*	Spondyloepiphyseal dysplasia, kondo-fu type [ClinVar]	Yes	ClinVar dbSNP
rs752293026 CA396943674	4	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8201934 rs752293026	4	V>I		No	ClinGen ExAC TOPMed gnomAD
CA285492942 rs994714729	5	N>K		No	ClinGen Ensembl
CA8201932 rs759071855	5	N>S		No	ClinGen ExAC gnomAD
CA396943664 rs1160026684	5	N>Y		No	ClinGen gnomAD
rs776531899 CA8201931	6	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8201930 rs34701895 VAR_051822	6	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776531899 CA396943651	6	I>V		No	ClinGen ExAC TOPMed gnomAD
rs17849053 CA285492922	9	L>F		No	ClinGen TOPMed gnomAD
CA396943607 rs1199082954	10	L>V		No	ClinGen gnomAD
CA396943597 rs1315988049	11	L>F		No	ClinGen TOPMed
CA8201928 rs773118504	12	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8201927 rs763300339	13	V>I		No	ClinGen ExAC TOPMed gnomAD
CA396943567 rs763300339	13	V>L		No	ClinGen ExAC TOPMed gnomAD
CA396943532 rs1218576853	16	C>F		No	ClinGen TOPMed
CA8201925 rs368539164	16	C>R		No	ClinGen ESP ExAC gnomAD
CA8201924 rs374302126	17	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445602764 CA396943478	20	H>R		No	ClinGen gnomAD
CA8201923 rs370948545	20	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201922 rs780700298	22	G>D		No	ClinGen ExAC gnomAD
CA8201919 rs140561689	23	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140561689 CA396943448	23	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34131233 CA285492844	24	R>K		No	ClinGen gnomAD
rs1358001759 CA396943428	24	R>S		No	ClinGen gnomAD
rs1022062768 CA285492833	26	E>K		No	ClinGen TOPMed gnomAD
CA8201918 rs757589326	27	K>E		No	ClinGen ExAC gnomAD
rs764922146 COSM177721 CA8201916	27	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8201917 rs148341491	27	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1369431763 CA396943398	29	S>C		No	ClinGen gnomAD
rs1193026553 CA396943391	30	F>C		No	ClinGen gnomAD
CA396943375 rs754457874	32	K>N		No	ClinGen ExAC gnomAD
rs892139594 CA285492800	32	K>R		No	ClinGen TOPMed
rs766216899 CA8201913	33	A>D		No	ClinGen ExAC gnomAD
CA396943373 rs201746165	33	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201746165 CA8201914	33	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8201911 rs773030148	34	P>A		No	ClinGen ExAC gnomAD
CA8201910 rs767303506	34	P>Q		No	ClinGen ExAC gnomAD
rs989521020 CA396943360	35	C>*		No	ClinGen TOPMed gnomAD
CA285492726 rs989521020	35	C>W		No	ClinGen TOPMed gnomAD
CA8201908 rs774683641	35	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs138570962 CA8201907	36	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396943357 rs1282728703	36	P>L		No	ClinGen TOPMed
CA8201905 rs749364178	37	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8201903 rs769766110	38	C>G		No	ClinGen ExAC gnomAD
rs140846648 CA8201902	38	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA396943336 rs1391822112	39	S>F		No	ClinGen TOPMed gnomAD
CA396943337 rs1391822112	39	S>Y		No	ClinGen TOPMed gnomAD
rs1167762631 CA396943333	40	H>Y		No	ClinGen gnomAD
CA8201901 rs781570217	42	T>I		No	ClinGen ExAC gnomAD
rs148030971 CA8201899 CA8201898	43	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201900 rs757622514	43	L>M		No	ClinGen ExAC gnomAD
rs1024296596 CA285492657	44	K>T		No	ClinGen Ensembl
rs143307141 CA8201897	46	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1405674321 CA396943272	46	E>Q		No	ClinGen TOPMed
rs1456668818 CA396943234	48	S>L		No	ClinGen TOPMed
rs753502902 CA8201896	49	S>*		No	ClinGen ExAC gnomAD
rs765848530 CA8201895	50	T>A		No	ClinGen ExAC TOPMed gnomAD
CA396943213 rs1382433968	50	T>I		No	ClinGen gnomAD
rs1597348547 CA396943212	51	V>I		No	ClinGen Ensembl
CA8201893 rs750328198	52	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8201894 rs750328198	52	V>E		No	ClinGen ExAC TOPMed gnomAD
rs941181700 CA285492613	52	V>M		No	ClinGen TOPMed gnomAD
rs1049151348 CA285492577	53	E>Q		No	ClinGen TOPMed
rs143626675 CA8201892 RCV000965333	54	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8201862 rs773740706	55	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8201861 rs772380343	56	Y>H		No	ClinGen ExAC gnomAD
rs1237507444 CA396942702	56	Y>S		No	ClinGen gnomAD
rs758829755 CA285489486	58	V>A		No	ClinGen Ensembl
CA285489483 rs1014761033	59	A>T		No	ClinGen TOPMed
CA285489477 rs1004332434	61	N>S		No	ClinGen TOPMed gnomAD
CA396942610 rs1377475415	63	Y>*		No	ClinGen gnomAD
rs148890460 CA8201858	63	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201859 rs148890460	63	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310422585 CA396942619	63	Y>H		No	ClinGen TOPMed gnomAD
rs148890460 CA8201860	63	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201857 rs745547400	64	F>L		No	ClinGen ExAC TOPMed gnomAD
CA396942559 rs1275235883	65	T>I		No	ClinGen TOPMed
CA396942550 rs1358447541	66	A>T		No	ClinGen Ensembl
rs756855374 CA8201855	67	K>R		No	ClinGen ExAC TOPMed gnomAD
rs751489346 CA396942499	68	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751489346 CA8201854	68	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	70	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396942460 rs1421739393	70	N>T		No	ClinGen gnomAD
CA396942476 rs1262853520	70	N>Y		No	ClinGen TOPMed
rs147669670 CA285489449	71	S>*		No	ClinGen ESP gnomAD
CA396942450 rs1381200632	71	S>T		No	ClinGen gnomAD
rs777904896 CA8201853	72	F>C		No	ClinGen ExAC
CA8201851 rs752503952	74	S>*		No	ClinGen ExAC gnomAD
CA8201852 rs758234394	74	S>A		No	ClinGen ExAC gnomAD
rs759623208 CA8201849	76	A>G		No	ClinGen ExAC TOPMed gnomAD
rs759623208 CA8201850	76	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1630017 CA8201847 rs766406748	79	S>I	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766406748 CA396942297	79	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772609032 CA285489377	81	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8201845 rs141669553	81	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762223424 CA8201843	82	V>L		No	ClinGen ExAC gnomAD
CA8201842 rs774519717	83	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8201840 rs745466465	84	N>S		No	ClinGen ExAC TOPMed gnomAD
CA396942194 rs1401963927	85	W>*		No	ClinGen gnomAD
CA396942174 rs1385358442	86	R>K		No	ClinGen TOPMed
TCGA novel	87	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	87	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779138922 CA8201838	88	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	89	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8201836 COSM197215 rs34076105	90	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
VAR_051823 CA8201837 rs34076105	90	R>G		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs901192156 CA396942108	90	R>P		No	ClinGen gnomAD
CA285489322 rs901192156	90	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8201835 rs758470266	91	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1166733211 CA396942096	91	N>K		No	ClinGen TOPMed gnomAD
CA8201833 rs778509846	92	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8201834 rs778509846	92	N>T		No	ClinGen ExAC TOPMed gnomAD
CA8201832 rs754833901	93	P>S		No	ClinGen ExAC gnomAD
CA8201830 rs766638252	95	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8201829 rs569046853	95	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766638252 CA8201831	95	S>R		No	ClinGen ExAC TOPMed gnomAD
rs138906208 CA8201827	96	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1203782139 CA396941971	97	Y>C		No	ClinGen TOPMed
rs1261596274 CA396941938	98	P>R		No	ClinGen TOPMed
CA396941930 rs1317808353	99	S>G		No	ClinGen gnomAD
CA8201825 rs762159290	99	S>R		No	ClinGen ExAC TOPMed gnomAD
rs767596439 CA8201826	99	S>T		No	ClinGen ExAC gnomAD
rs1341145022 CA396941876	101	F>S		No	ClinGen gnomAD
rs942805403 CA285489217	102	E>A		No	ClinGen Ensembl
CA396941810 rs1187980572	103	V>G		No	ClinGen TOPMed
CA396941772 rs1300760442	106	I>K		No	ClinGen gnomAD
rs1385298875 CA396941742	108	E>K		No	ClinGen gnomAD
CA396941668 rs1258996466	110	Q>K		No	ClinGen TOPMed
CA396941628 rs1597345817	112	A>S		No	ClinGen Ensembl
CA8201822 COSM704559 rs377692604	112	A>V	lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA8201818 rs770771775	113	G>W		No	ClinGen ExAC gnomAD
CA396941566 rs1467127104	115	L>P		No	ClinGen gnomAD
rs772793815 CA8201816	116	T>I		No	ClinGen ExAC gnomAD
CA396941528 rs1190813406	118	E>K		No	ClinGen gnomAD
CA285489147 rs139932355	119	D>E		No	ClinGen ESP
CA396941519 rs1567500405	119	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA396941490 rs1431070010	120	H>P		No	ClinGen gnomAD
rs547761123 CA8201814	121	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200595364 CA285489136	122	N>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs200595364 CA285489133	122	N>Y		No	ClinGen 1000Genomes TOPMed gnomAD
CA396941427 rs1597345733	123	I>N		No	ClinGen Ensembl
CA396941421 rs1597345728	124	K>Q		No	ClinGen Ensembl
CA8201811 rs150655343	124	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201809 rs755155071	125	R>Q		No	ClinGen ExAC gnomAD
rs150244031 CA8201810	125	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA285489110 rs142980972	127	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142980972 CA8201808	127	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA285489076 rs992516206	129	Q>H		No	ClinGen TOPMed
CA396941368 rs1597345675	129	Q>L		No	ClinGen Ensembl
rs757376683 CA8201806	130	R>*		No	ClinGen ExAC gnomAD
rs148577579 CA8201805	130	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM171357 rs148577579 CA8201804	130	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA396941347 rs766388700	131	K>R		No	ClinGen ExAC TOPMed gnomAD
rs766388700 CA8201803	131	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8201800 rs773033932	134	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8201799 rs773033932	134	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8201798 rs761436859	134	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396941305 rs761436859	134	R>L		No	ClinGen ExAC gnomAD
CA8201797 rs761436859	134	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396941298 rs373148074	135	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201796 rs373148074	135	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs779756830 CA8201793	137	K>N		No	ClinGen ExAC gnomAD
rs531896878 CA8201794	137	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs746041915 CA8201791	138	Y>C		No	ClinGen ExAC gnomAD
CA8201792 rs769607861	138	Y>H		No	ClinGen ExAC gnomAD
CA396941267 rs746041915	138	Y>S		No	ClinGen ExAC gnomAD
CA8201790 rs781522280	139	A>T		No	ClinGen ExAC gnomAD
CA8201755 rs759310749	141	S>C		No	ClinGen ExAC TOPMed gnomAD
rs941425319 CA285484243	143	P>L		No	ClinGen gnomAD
CA8201754 rs776427633	143	P>T		No	ClinGen ExAC TOPMed gnomAD
CA396940408 rs1567498083	144	T>A		No	ClinGen Ensembl
CA8201753 rs770639944	144	T>I		No	ClinGen ExAC gnomAD
TCGA novel	145	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217956282 CA396940394	145	V>E		No	ClinGen gnomAD
rs1217956282 CA396940389	145	V>G		No	ClinGen gnomAD
CA8201752 RCV000887067 rs138737600	145	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA285484200 rs138737600	145	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8201751 rs773333011	146	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773333011 CA396940383	146	P>R		No	ClinGen ExAC gnomAD
CA285484197 rs982899528	146	P>T		No	ClinGen Ensembl
rs1271500732 CA396940367	147	C>Y		No	ClinGen gnomAD
CA8201749 COSM1609720 rs138518499	148	N>S	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138518499 CA396940344	148	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396940335 rs1321950301	149	E>K		No	ClinGen gnomAD
CA8201747 rs563774189	150	T>I		No	ClinGen ExAC TOPMed gnomAD
CA396940310 rs1597342216	150	T>P		No	ClinGen Ensembl
CA8201748 rs563774189	150	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396940284 rs780423511	151	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780423511 CA8201745	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8201746 rs749774637	151	R>W		No	ClinGen ExAC TOPMed gnomAD
CA285484161 rs200595636	152	W>*		No	ClinGen Ensembl
rs1464523411 CA396940203	154	Q>H		No	ClinGen gnomAD
rs964738225 CA285484154	157	Q>K		No	ClinGen TOPMed gnomAD
COSM240617 CA8201743 rs75671195	160	R>C	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8201742 rs369349224	160	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757895010 CA8201741	161	P>S		No	ClinGen ExAC gnomAD
TCGA novel	162	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396940054 rs752259432	163	R>*		No	ClinGen ExAC TOPMed gnomAD
CA396940055 rs752259432	163	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8201739 rs565150698	163	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8201738 rs759404753	166	S>G		No	ClinGen ExAC gnomAD
CA8201736 rs760440560	166	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8201737 rs150192740	166	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8201734 rs773452354	167	L>V		No	ClinGen ExAC gnomAD
CA8201733 rs772489629	168	S>C		No	ClinGen ExAC gnomAD
rs749752600 CA8201730	170	G>D		No	ClinGen ExAC gnomAD
CA8201731 rs774516323	170	G>S		No	ClinGen ExAC gnomAD
rs749752600 CA8201729	170	G>V		No	ClinGen ExAC gnomAD
rs1445194477 CA396939909	171	S>A		No	ClinGen TOPMed gnomAD
COSM3795186 CA8201728 rs575732938	171	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs917890514 CA285484020	173	F>L		No	ClinGen TOPMed gnomAD
rs1423171449 CA396939814	175	H>R		No	ClinGen gnomAD
CA285484012 rs768025066	177	T>M		No	ClinGen Ensembl
rs1196439688 CA396939699	180	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8201726 rs372274953	181	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA396939654 rs372274953	181	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388326312 CA396939648	182	S>C		No	ClinGen TOPMed
rs777387032 CA8201725	182	S>R		No	ClinGen ExAC gnomAD
rs1234493041 CA396939616 COSM974331	184	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs556122047 CA8201722	188	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA396939547 rs1597342058	189	I>T		No	ClinGen Ensembl
CA396939553 rs1236035339	189	I>V		No	ClinGen gnomAD
rs138035660 CA8201721	190	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA285483966 rs138035660	190	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA396939543 rs1348221699	190	P>S		No	ClinGen gnomAD
CA8201719 rs150338981	191	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	191	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299185020 CA396939525	191	R>L		No	ClinGen gnomAD
TCGA novel	191	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8201718 rs745619728	192	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA396939489 rs1327449645	194	A>V		No	ClinGen TOPMed
CA396939468 rs1357501218	196	T>A		No	ClinGen gnomAD
CA396939460 rs750303168	197	L>V		No	ClinGen ExAC gnomAD
rs527813507 CA396939443	198	Q>H		No	ClinGen TOPMed gnomAD
CA396939439 rs1296085418	199	A>S		No	ClinGen TOPMed
rs762061719 CA8201715	202	L>V		No	ClinGen ExAC TOPMed gnomAD
CA285483911 rs905206543	203	W>L		No	ClinGen gnomAD
rs774734829 CA396939371	204	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA285483885 rs781063268	205	M>I		No	ClinGen Ensembl
rs1472464721 CA396939367	205	M>V		No	ClinGen gnomAD
CA285483868 rs1038349350	206	G>V		No	ClinGen Ensembl
CA396939305 rs201670537	207	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201712 rs201670537	207	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs768833664 CA8201713	207	Y>H		No	ClinGen ExAC gnomAD
rs908625055 CA285483842	208	T>A		No	ClinGen TOPMed gnomAD
rs1284807583 CA396939295	208	T>I		No	ClinGen TOPMed gnomAD
rs748987426 CA8201686	210	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748987426 CA396938729	210	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396938705 rs779367146	211	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1026655192 CA285481247	211	N>S		No	ClinGen TOPMed
CA8201684 rs192912251	212	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA285481214 rs192912251	212	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140401330 CA396938687	213	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs981948096 CA285481205	217	F>L		No	ClinGen Ensembl
CA8201682 rs781315551	219	T>S		No	ClinGen ExAC gnomAD
CA285481188 rs112559894	220	G>E		No	ClinGen Ensembl
rs757110368 CA8201681	221	L>M		No	ClinGen ExAC gnomAD
CA8201677 rs752992980	223	E>D		No	ClinGen ExAC gnomAD
CA8201678 rs758482781	223	E>G		No	ClinGen ExAC gnomAD
rs373768030 CA8201679	223	E>K		No	ClinGen ExAC TOPMed gnomAD
CA396938503 rs1300780184	224	K>R		No	ClinGen gnomAD
CA8201675 rs759662502	225	H>Q		No	ClinGen ExAC gnomAD
rs766938566 CA8201673	226	P>L		No	ClinGen ExAC gnomAD
CA8201674 rs777092528	226	P>S		No	ClinGen ExAC TOPMed gnomAD
CA396938447 rs1296417985	227	H>R		No	ClinGen gnomAD
CA8201672 rs761019345	227	H>Y		No	ClinGen ExAC gnomAD
rs1463031023 CA396938415	229	K>T		No	ClinGen gnomAD
rs1373162388 CA396938390	231	V>M		No	ClinGen gnomAD
CA396938352 rs1378128211	232	K>M		No	ClinGen gnomAD
CA396938333 rs1174830895	233	E>G		No	ClinGen gnomAD
CA396938326 rs1177104803	234	R>G		No	ClinGen gnomAD
rs773394608 CA8201671	234	R>K		No	ClinGen ExAC TOPMed gnomAD
CA396938292 rs748855571	236	N>I		No	ClinGen ExAC TOPMed gnomAD
CA8201669 rs748855571	236	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775255020 CA8201668	239	N>D		No	ClinGen ExAC gnomAD
rs984913713 CA285481088	240	E>K		No	ClinGen Ensembl
COSM1380155 CA396938236 rs1567496535	241	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs745434218 CA396938234	241	R>L		No	ClinGen ExAC gnomAD
rs745434218 CA8201666	241	R>Q		No	ClinGen ExAC gnomAD
rs146110910 CA285481065	242	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1214664 rs146110910 CA8201665	242	T>M	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs577719378 CA8201662	244	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs989918369 CA285480423	246	G>E		No	ClinGen Ensembl
CA396938188 rs1441942512	246	G>R		No	ClinGen gnomAD
rs578072467 CA285480409	248	G>D		No	ClinGen Ensembl
CA396938062 rs1217888719	251	T>R		No	ClinGen TOPMed
CA8201640 rs754067434	253	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1032151179 CA285480359	254	A>G		No	ClinGen TOPMed
rs1289259006 CA396938033	254	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1283444350 CA396938017	255	G>D		No	ClinGen TOPMed gnomAD
rs1283444350 CA396938015	255	G>V		No	ClinGen TOPMed gnomAD
rs756210982 CA8201638	256	V>G		No	ClinGen ExAC gnomAD
CA8201637 rs750861039	257	I>K		No	ClinGen ExAC
rs776443729 CA8201632	258	A>D		No	ClinGen ExAC TOPMed gnomAD
rs776443729 CA8201631	258	A>G		No	ClinGen ExAC TOPMed gnomAD
CA396937987 rs751889545	258	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751889545 CA8201635	258	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8201634 rs751889545	258	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8201633 rs776443729	258	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773020028 CA8201629	259	S>G		No	ClinGen ExAC gnomAD
TCGA novel	259	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773020028 CA8201628	259	S>R		No	ClinGen ExAC gnomAD
rs879242559 CA285480273	260	M>T		No	ClinGen Ensembl
CA396937923 rs1044700647	262	E>D		No	ClinGen TOPMed gnomAD
CA396937930 rs1597339481	262	E>G		No	ClinGen Ensembl
CA396937918 rs1567496043	263	C>G		No	ClinGen Ensembl
CA396937920 rs1567496043	263	C>R		No	ClinGen Ensembl
rs1474546700 CA396937888	265	G>E		No	ClinGen TOPMed
CA8201626 rs748050140	266	F>C		No	ClinGen ExAC gnomAD
rs149564178 CA8201625	267	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA8201624 rs377381353	268	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201622 rs780307035	269	D>G		No	ClinGen ExAC TOPMed gnomAD
CA396937846 rs1400892351	269	D>N		No	ClinGen TOPMed
CA8201620 rs746329579	270	A>G		No	ClinGen ExAC gnomAD
rs756180195 CA8201621	270	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8201619 rs781140411	271	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1024229213 CA285480214	272	L>F		No	ClinGen Ensembl
rs752037534 CA396937793	273	H>L		No	ClinGen ExAC TOPMed gnomAD
rs752037534 CA8201617	273	H>R		No	ClinGen ExAC TOPMed gnomAD
CA396937772 rs1567495964	276	R>K		No	ClinGen Ensembl
CA285480165 rs894495274	279	T>S		No	ClinGen Ensembl
CA8201616 rs764503671	280	N>H		No	ClinGen ExAC gnomAD
rs373049888 CA8201615	280	N>S		No	ClinGen ESP ExAC gnomAD
rs143291850 CA285480152	281	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143291850 CA8201614	281	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396937732 rs766202981	281	N>S		No	ClinGen ExAC gnomAD
rs766202981 CA8201613	281	N>T		No	ClinGen ExAC gnomAD
CA396937120 rs1196001149	283	V>L		No	ClinGen gnomAD
rs1236897703 CA396937102	284	S>F		No	ClinGen gnomAD
rs1301658933 CA396937114	284	S>P		No	ClinGen gnomAD
CA285478338 rs1036810997	289	F>C		No	ClinGen TOPMed
CA8201589 rs762887983	291	D>E		No	ClinGen ExAC TOPMed gnomAD
rs181348739 CA285478327	291	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181348739 CA8201591	291	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396936969 rs375432685	292	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375432685 CA8201588	292	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769503870 CA8201587	294	N>S		No	ClinGen ExAC gnomAD
CA396936932 rs1373826459	295	Y>F		No	ClinGen gnomAD
rs776767361 CA8201585	297	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747151501 CA8201583	301	I>F		No	ClinGen ExAC gnomAD
rs770721658 CA285478274	301	I>M		No	ClinGen gnomAD
CA396936862 rs1219255760	301	I>S		No	ClinGen TOPMed
rs1226433724 CA396936858	302	D>N		No	ClinGen gnomAD
CA396936845 rs778412911 CA396936844	303	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778412911 CA8201580	303	V>M		No	ClinGen ExAC TOPMed gnomAD
CA396936817 rs1234088868	305	N>K		No	ClinGen TOPMed gnomAD
CA8201579 rs758919388	306	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1051758190 CA285478242	307	S>N		No	ClinGen TOPMed
CA8201577 rs779300520	307	S>R		No	ClinGen ExAC gnomAD
rs1348964703 CA396936787	308	I>V		No	ClinGen gnomAD
rs1376218482 CA396936757	310	G>V		No	ClinGen gnomAD
rs1015909513 CA285478195	311	P>A		No	ClinGen gnomAD
CA396936746 rs1170719588	311	P>L		No	ClinGen TOPMed
rs1597337870 CA396936733	312	D>G		No	ClinGen Ensembl
CA285478192 rs1054484241	314	M>V		No	ClinGen TOPMed gnomAD
rs1005065265 CA285478191	316	H>R		No	ClinGen Ensembl
rs1314931335 CA396936678	316	H>Y		No	ClinGen gnomAD
rs751010634 CA8201572	317	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396936667 rs1463643022	317	P>S		No	ClinGen TOPMed
rs762833969 CA8201570	320	D>E		No	ClinGen ExAC gnomAD
rs372020761 CA8201567	321	K>M		No	ClinGen ESP ExAC gnomAD
CA8201568 rs372020761	321	K>R		No	ClinGen ESP ExAC gnomAD
rs372020761 CA8201569	321	K>T		No	ClinGen ESP ExAC gnomAD
CA396936265 rs1335631844	322	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1167876966 CA396936259	323	W>R		No	ClinGen TOPMed gnomAD
rs778500373 CA8201533	324	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753845938 CA8201531	326	T>I		No	ClinGen ExAC gnomAD
CA8201529 rs750646863	328	N>K		No	ClinGen ExAC gnomAD
CA396936179 CA396936182 rs761973743	329	N>K		No	ClinGen ExAC TOPMed gnomAD
rs531438774 CA8201527	329	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768808163 CA8201524	331	I>M		No	ClinGen ExAC TOPMed gnomAD
rs774224944 CA8201525	331	I>V		No	ClinGen ExAC gnomAD
rs776110165 CA8201522	332	M>I		No	ClinGen ExAC TOPMed gnomAD
CA8201523 rs763317067	332	M>L		No	ClinGen ExAC gnomAD
CA396936156 rs763317067	332	M>V		No	ClinGen ExAC gnomAD
rs1233230487 CA396936122	334	S>F		No	ClinGen gnomAD
rs1368531140 CA396936120	335	A>P		No	ClinGen gnomAD
rs1339675362 CA396936105	336	I>T		No	ClinGen TOPMed
rs1305446076 CA396936110	336	I>V		No	ClinGen gnomAD
rs1197284464 CA396936092	337	G>V		No	ClinGen TOPMed
rs1387347022 CA396936079	338	N>K		No	ClinGen gnomAD
CA285476715 COSM361857 rs746296237	340	G>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA396936062 CA8201520 rs746296237	340	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772837839 CA8201519	342	L>F		No	ClinGen ExAC gnomAD
CA396936035 rs1200039057	343	Y>H		No	ClinGen TOPMed
rs1334436876 CA396935614	345	T>A		No	ClinGen gnomAD
rs146889349 CA396935610	345	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs146889349 CA8201475	345	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751697773 CA8201473	349	P>S		No	ClinGen ExAC gnomAD
CA396935557 rs764442676	350	A>G		No	ClinGen ExAC gnomAD
CA8201472 rs764442676	350	A>V		No	ClinGen ExAC gnomAD
CA396935513 rs1476244156	353	M>I		No	ClinGen gnomAD
CA396935529 rs1162924302	353	M>L		No	ClinGen gnomAD
CA396935478 rs1192771737	356	I>T		No	ClinGen gnomAD
rs1287900476 CA396935465	358	V>I		No	ClinGen Ensembl
CA8201469 rs765305109	360	G>S		No	ClinGen ExAC gnomAD
rs372496435 CA8201466	362	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201467 rs777145649	362	D>N		No	ClinGen ExAC gnomAD
rs190540580 CA396935397	364	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190540580 CA8201465	364	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1284354723 CA396935391	365	D>N		No	ClinGen gnomAD
TCGA novel	365	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768417679 CA285471788	367	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8201464 rs773874587	367	I>V	Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8201462 rs762711227	368	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200087251 CA8201461	369	R>C		No	ClinGen ExAC TOPMed gnomAD
CA396935344 rs200087251	369	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769447040 CA8201460	369	R>H		No	ClinGen ExAC TOPMed gnomAD
rs866581125 CA285471753	371	S>F		No	ClinGen Ensembl
rs1446531670 CA396935314	373	R>S		No	ClinGen gnomAD
CA396935309 rs1375260333	374	G>E		No	ClinGen gnomAD
rs370111135 CA8201459	375	M>I		No	ClinGen ESP ExAC gnomAD
rs781315532 CA8201458	376	T>S		No	ClinGen ExAC gnomAD
CA8201457 rs143888040	377	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA285471733 rs975909593	378	W>S		No	ClinGen Ensembl
CA8201431 rs756580241	382	G>A		No	ClinGen ExAC gnomAD
CA285469204 rs756651056	383	G>D		No	ClinGen Ensembl
CA396935235 rs1308858623	383	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396935219 rs1176518273	384	Y>C		No	ClinGen TOPMed
CA396935221 rs1176518273	384	Y>S		No	ClinGen TOPMed
CA8201429 rs767896752	385	G>S		No	ClinGen ExAC TOPMed gnomAD
CA396935206 rs1333139692	386	R>C		No	ClinGen TOPMed
CA396935203 rs1171567846	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396935192 rs752390692	387	M>R		No	ClinGen ExAC gnomAD
rs752390692 CA8201427	387	M>T		No	ClinGen ExAC gnomAD
rs757733827 CA8201428	387	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8201426 rs765039032	390	D>A		No	ClinGen ExAC gnomAD
CA396935157 rs1468093894	390	D>E		No	ClinGen gnomAD
rs914830188 CA285469183	391	I>V		No	ClinGen TOPMed gnomAD
CA8201425 rs535545758	392	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396935145 rs535545758	392	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs956461069 CA285469177	393	T>I		No	ClinGen TOPMed gnomAD
rs751157818 CA8201422	394	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8201423 rs765836839	394	Y>H		No	ClinGen ExAC gnomAD
rs1240921154 CA396935112	396	A>T		No	ClinGen Ensembl
CA8201421 rs201316737	396	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA396935103 rs1222630009	397	G>S		No	ClinGen gnomAD
rs1232867217 CA396935087	398	V>A		No	ClinGen gnomAD
CA8201417 rs768811661	398	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768811661 CA8201418	398	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8201416 rs749480313	399	R>P		No	ClinGen ExAC TOPMed gnomAD
CA396935081 rs749480313 COSM1324238	399	R>Q	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA396935083 rs1353750448	399	R>W		No	ClinGen gnomAD
CA8201415 rs780145532	400	G>C		No	ClinGen ExAC gnomAD
CA8201414 rs533250012	401	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs200031615 CA8201412	403	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8201410 rs751912633	405	G>A		No	ClinGen ExAC TOPMed gnomAD
CA396935025 rs751912633	405	G>E		No	ClinGen ExAC TOPMed gnomAD
rs200492201 CA8201411	405	G>R		No	ClinGen ExAC gnomAD
TCGA novel	406	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8201407 rs753454359	406	G>V		No	ClinGen ExAC gnomAD
TCGA novel	407	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	407	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773198160 CA8201404	408	R>P		No	ClinGen ExAC gnomAD
rs760144119 CA8201405	408	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1269353997 CA396934993	409	A>P		No	ClinGen gnomAD
rs1269353997 CA396934994	409	A>S		No	ClinGen gnomAD
rs1411302875 CA396934966	412	G>R		No	ClinGen TOPMed
rs141686628 CA8201402	413	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774069326 CA8201401	414	S>I		No	ClinGen ExAC gnomAD
TCGA novel	414	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379612064 CA396934937	415	V>I		No	ClinGen gnomAD
TCGA novel	416	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285073795 CA396934911	417	S>F		No	ClinGen TOPMed
CA396934899 rs1432774383	419	V>L		No	ClinGen gnomAD
rs749500095 CA8201399	421	A>V		No	ClinGen ExAC gnomAD
CA8201398 rs775611652	423	A>P		No	ClinGen ExAC TOPMed gnomAD
CA396934858 rs1341736552	423	A>V		No	ClinGen TOPMed
CA8201397 rs769910761	425	T>N		No	ClinGen ExAC gnomAD
TCGA novel	428	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1030863572 CA285461170	430	T>P		No	ClinGen Ensembl
rs1303345912 CA396934237	432	Q>R		No	ClinGen gnomAD
CA8201373 rs368415040	433	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs368415040 CA396934229	433	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748520557 CA8201372	434	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755593855 CA8201371	434	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755657791 CA8201370	435	E>V		No	ClinGen ExAC gnomAD
rs750110636 CA8201369	436	L>V		No	ClinGen ExAC gnomAD
CA8201367 rs756813550	437	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8201368 rs756813550	437	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1457712688 CA396934203	438	N>S		No	ClinGen TOPMed
rs751490114 CA8201366	439	P>S		No	ClinGen ExAC gnomAD
rs752366664 CA8201363	440	A>G		No	ClinGen ExAC gnomAD
CA8201364 rs762959593	440	A>T	Variant assessed as Somatic; 0.0001623 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8201361 rs759627200	441	S>I		No	ClinGen ExAC gnomAD
rs765110147 CA8201362	441	S>R		No	ClinGen ExAC gnomAD
TCGA novel	444	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374213122 CA8201359	444	Q>E		No	ClinGen ESP ExAC gnomAD
CA396934164 rs1199615528	444	Q>R		No	ClinGen gnomAD
rs572363829 CA8201358	445	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772403445 CA8201356	446	L>R		No	ClinGen ExAC TOPMed gnomAD
CA8201353 rs779109222	448	A>T		No	ClinGen ExAC gnomAD
rs1350687564 CA396934140	448	A>V		No	ClinGen gnomAD
rs1394596871 CA396934134	449	S>L		No	ClinGen gnomAD
rs749779001 CA285461047	450	A>T		No	ClinGen Ensembl
CA8201349 rs201798362	451	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs780885578 CA8201351	451	R>W		No	ClinGen ExAC gnomAD
CA396934117 rs1453749215	453	L>V		No	ClinGen gnomAD
rs1338408849 CA396934111	454	P>S		No	ClinGen TOPMed
rs1398346413 CA396934106	455	G>R		No	ClinGen TOPMed gnomAD
CA8201346 rs758226981	456	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1597327368 CA396934098	456	V>G		No	ClinGen Ensembl
CA396934091 rs1387453688	457	N>S		No	ClinGen gnomAD
CA396934082 rs1258075356	458	M>I		No	ClinGen gnomAD
rs752700722 CA8201345	458	M>K		No	ClinGen ExAC TOPMed gnomAD
CA396934086 rs1185692325	458	M>V		No	ClinGen gnomAD
rs376359016 CA8201344	459	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1018527015 CA285461024	463	H>N		No	ClinGen TOPMed
rs1289176959 CA396934019	463	H>P		No	ClinGen gnomAD
rs754109580 CA8201342	465	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8201341 rs373075366	466	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767669312 CA8201339	467	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8201338 rs767669312	467	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8201336 rs199905108	470	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8201335 rs768876126	471	A>G		No	ClinGen ExAC gnomAD
rs1376599426 CA396933925	471	A>P		No	ClinGen TOPMed
CA8201334 rs547430746	472	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547430746 CA8201333	472	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8201332 rs770500858	474	I>L		No	ClinGen ExAC gnomAD
rs944428556 CA285460984	475	L>V		No	ClinGen Ensembl
rs746692763 CA8201331	476	N>S		No	ClinGen ExAC gnomAD
rs757974180 CA8201329	478	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA396933835 rs1369944928	478	Y>C		No	ClinGen TOPMed gnomAD
rs370340830 CA8201327	480	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396933810 rs1237687958	480	P>L		No	ClinGen TOPMed
CA8201328 rs370340830	480	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396933803 rs1348572225	481	Q>*		No	ClinGen TOPMed
CA8201325 rs753630913	481	Q>R		No	ClinGen ExAC gnomAD
CA8201324 rs766282988	482	A>G		No	ClinGen ExAC gnomAD
rs769694854 CA8201289	484	L>F		No	ClinGen ExAC gnomAD
CA8201290 rs139047420	484	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139047420 CA8201291	484	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377752209 CA396931387	484	L>W		No	ClinGen gnomAD
rs745614764 CA396931375	485	S>I		No	ClinGen ExAC TOPMed gnomAD
CA8201288 rs745614764	485	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8201287 rs375404159	486	P>R		No	ClinGen ESP ExAC gnomAD
CA396931355 rs757454533	487	S>N		No	ClinGen ExAC gnomAD
rs757454533 CA8201286	487	S>T		No	ClinGen ExAC gnomAD
rs1203342205 CA396931342	488	Y>C		No	ClinGen TOPMed
rs1321216630 CA396931335	489	I>L		No	ClinGen TOPMed
CA285454411 rs980292999	489	I>T		No	ClinGen TOPMed
rs1321216630 CA396931332	489	I>V		No	ClinGen TOPMed
CA396931312 rs1277048031	490	D>E		No	ClinGen gnomAD
rs1386493367 CA396931320	490	D>Y		No	ClinGen TOPMed gnomAD
rs1221502487 CA396931311	491	L>V		No	ClinGen gnomAD
CA285454387 rs963605322	497	M>I		No	ClinGen Ensembl
CA8201284 rs758522985	497	M>L		No	ClinGen ExAC TOPMed gnomAD
rs758522985 CA8201283	497	M>V		No	ClinGen ExAC TOPMed gnomAD
rs765800448 CA396931247	498	W>*		No	ClinGen ExAC gnomAD
CA8201282 rs753189696	498	W>*		No	ClinGen ExAC gnomAD
rs765800448 CA8201281	498	W>C		No	ClinGen ExAC gnomAD
CA285454376 rs573549046	500	Y>C		No	ClinGen gnomAD
CA396931220 rs1442582036	502	S>C		No	ClinGen gnomAD
CA396931206 rs1332099324	504	P>R		No	ClinGen gnomAD
rs766675178 CA396931200	505	I>M		No	ClinGen ExAC TOPMed gnomAD
rs201233799 CA285454363	505	I>S		No	ClinGen TOPMed gnomAD
CA8201279 rs754172249	505	I>V		No	ClinGen ExAC gnomAD
CA396931193 rs367848010	506	Y>*		No	ClinGen ESP TOPMed gnomAD
rs200315038 CA285454356	506	Y>S		No	ClinGen Ensembl
rs1411405876 CA396931189	507	Y>C		No	ClinGen TOPMed
CA396931190 rs1413644026	507	Y>D		No	ClinGen gnomAD
rs1326626853 CA396931184	508	G>R		No	ClinGen TOPMed
CA8201276 rs774184571	509	G>A		No	ClinGen ExAC gnomAD
CA396931160 rs1212832086	511	P>L		No	ClinGen TOPMed gnomAD
CA396931161 rs1212832086	511	P>R		No	ClinGen TOPMed gnomAD
CA8201275 rs768255883	511	P>T		No	ClinGen ExAC gnomAD
rs150184651 CA285454337	512	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150184651 CA8201274	512	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA285454320 rs997970206	513	V>A		No	ClinGen TOPMed gnomAD
rs555388028 CA285454318	514	V>L		No	ClinGen gnomAD
CA396931141 rs1228020961	515	N>S		No	ClinGen gnomAD
TCGA novel	516	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA285454311 rs1017969366	516	V>I		No	ClinGen Ensembl
rs1272794355 CA396931115	519	L>R		No	ClinGen TOPMed
rs770673100 CA8201269	519	L>V		No	ClinGen ExAC gnomAD
CA396931106 rs1225438445	521	G>S		No	ClinGen TOPMed
rs1267396357 CA396931099	522	M>V		No	ClinGen TOPMed
CA396931091 rs1479131447	523	G>R		No	ClinGen TOPMed
rs368542450 CA8201267	524	V>I		No	ClinGen ESP ExAC gnomAD
CA396931080 rs1597319907	525	T>A		No	ClinGen Ensembl
rs1390296223 CA396931075	525	T>I		No	ClinGen gnomAD
CA8201266 rs758469487	526	G>V		No	ClinGen ExAC gnomAD
CA8201265 rs748158404	527	R>G		No	ClinGen ExAC gnomAD
CA396931058 rs1305158045	528	I>N		No	ClinGen Ensembl
rs778977485 CA8201264	529	V>A		No	ClinGen ExAC TOPMed gnomAD
CA285454283 rs1057456308	530	D>H		No	ClinGen gnomAD
CA8201243 rs749778908	534	W>R		No	ClinGen ExAC gnomAD
rs1316480867 CA396930780	535	Q>E		No	ClinGen TOPMed
rs1218070500 CA396930771	536	P>A		No	ClinGen gnomAD
CA8201242 rs780480218	537	Y>C		No	ClinGen ExAC gnomAD
CA396930754 rs1294908635	538	L>F		No	ClinGen gnomAD
CA8201240 rs569852659	539	P>R		No	ClinGen ExAC gnomAD
CA8201241 rs756493995	539	P>T		No	ClinGen ExAC gnomAD
CA8201238 rs377440160	540	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA285451669 rs377440160	540	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA285451665 rs901018167	540	Q>R		No	ClinGen TOPMed gnomAD
CA8201236 rs764785080	542	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766163584 CA8201233	543	D>E		No	ClinGen ExAC gnomAD
CA8201234 rs776627101	543	D>H		No	ClinGen ExAC gnomAD
CA8201230 rs761990325	544	N>K		No	ClinGen ExAC TOPMed gnomAD
rs151071336 CA8201231	544	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151071336 CA8201232	544	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8201228 rs774482473	545	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1251752515 CA396930706	547	V>I		No	ClinGen gnomAD
CA396930705 rs1251752515	547	V>L		No	ClinGen gnomAD
rs749390389 CA8201226	548	A>G		No	ClinGen ExAC gnomAD
CA8201227 rs768765411	548	A>P		No	ClinGen ExAC TOPMed gnomAD
rs749390389 CA396930697	548	A>V		No	ClinGen ExAC gnomAD
CA285451631 rs977604913	549	F>I		No	ClinGen TOPMed
CA8201225 rs780183957	549	F>S		No	ClinGen ExAC gnomAD
CA396930694 rs780183957	549	F>Y		No	ClinGen ExAC gnomAD
rs143702586 CA8201223	550	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201222 rs143702586	550	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs778498071 CA8201219	552	S>Y		No	ClinGen ExAC gnomAD
CA8201218 rs553862782	553	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765935003 CA8201216	554	V>D		No	ClinGen ExAC gnomAD
CA396930666 rs1218456835	554	V>F		No	ClinGen TOPMed
rs750398846 CA8201214	555	L>S		No	ClinGen ExAC gnomAD
CA8201213 rs540371654	556	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8201211 rs774625551	559	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8201209 rs377690281	560	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201208 rs775395265	564	I>T		No	ClinGen ExAC gnomAD
CA396930605 rs1597315483	564	I>V		No	ClinGen Ensembl
CA396930595 rs1305307898	565	S>C		No	ClinGen TOPMed gnomAD
CA396930582 rs1203680870	567	S>C		No	ClinGen gnomAD
CA8201207 rs770037433	569	T>I		No	ClinGen ExAC TOPMed gnomAD
rs770037433 CA396930570	569	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396930562 rs1265842882	570	K>N		No	ClinGen TOPMed gnomAD
CA396930565 rs1375986614	570	K>R		No	ClinGen gnomAD
CA8201206 rs373905268	571	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373905268 CA8201205	571	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597315419 CA396930555	572	A>T		No	ClinGen Ensembl
CA8201204 rs141540308	572	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8201203 rs747271472	573	A>V		No	ClinGen ExAC gnomAD
CA8201201 rs754536730	576	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8201200 rs753558085	577	G>D		No	ClinGen ExAC
CA396930144 rs1367917212	578	I>M		No	ClinGen TOPMed
CA396930152 rs1386635491	578	I>V		No	ClinGen TOPMed gnomAD
CA396930136 rs1454536517	579	A>G		No	ClinGen gnomAD
CA396930141 rs201535353	579	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8201199 rs201535353	579	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA396930123 CA285451545 rs143902156	580	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP gnomAD NCI-TCGA
rs755668850 CA8201198	580	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA396930127 rs755668850	580	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8201197 rs368759469	582	H>R		No	ClinGen ExAC TOPMed gnomAD
CA396930084 rs1175853629	584	M>K		No	ClinGen gnomAD
CA8201196 rs767506925	584	M>V		No	ClinGen ExAC gnomAD
CA396930078 rs1184203907	585	I>V		No	ClinGen TOPMed gnomAD
rs761739221 CA396930071	586	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761739221 CA8201195	586	T>S		No	ClinGen ExAC TOPMed gnomAD
rs751251813 CA8201194	587	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1312692610 CA396930051	589	S>F		No	ClinGen TOPMed
rs1265750732 CA396930049	590	P>A		No	ClinGen gnomAD
CA396930040 rs1206496350	591	A>G		No	ClinGen gnomAD
CA8201193 rs763984116	592	E>D		No	ClinGen ExAC gnomAD
CA285451530 rs1014741522	592	E>K		No	ClinGen TOPMed gnomAD
rs552351105 CA285451523	593	T>I		No	ClinGen gnomAD
CA8201153 rs745538324	597	N>D		No	ClinGen ExAC gnomAD
TCGA novel	597	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780087229	597	N>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA285451158 rs201149007	597	N>S		No	ClinGen Ensembl
CA396929985 rs780652782	598	G>C		No	ClinGen ExAC gnomAD
rs1364904022 CA396929983	598	G>D		No	ClinGen TOPMed gnomAD
CA8201151 rs780652782	598	G>S		No	ClinGen ExAC gnomAD
rs1364904022 CA396929982	598	G>V		No	ClinGen TOPMed gnomAD
CA396929980 rs1186861369	599	A>S		No	ClinGen gnomAD
rs756844719 CA8201150	599	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1484734744 CA396929966	601	Q>*		No	ClinGen TOPMed gnomAD
CA285451149 rs1036208451	601	Q>H		No	ClinGen TOPMed
rs1597314546 CA396929956	602	T>I		No	ClinGen Ensembl
CA8201148 rs777836925	603	S>A		No	ClinGen ExAC gnomAD
CA396929953 rs1287979685	603	S>L		No	ClinGen gnomAD
rs758274063 CA8201147	604	T>I		No	ClinGen ExAC
CA285451140 rs1002863160	605	V>E		No	ClinGen Ensembl
CA396929943 rs1368552019	605	V>L		No	ClinGen TOPMed gnomAD
CA396929935 rs1330801514	606	K>M		No	ClinGen gnomAD
CA396929934 rs1410515706	606	K>N		No	ClinGen gnomAD
TCGA novel	606	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396929924 rs1375676098	608	P>S		No	ClinGen TOPMed
CA8201146 rs752484787	609	I>M		No	ClinGen ExAC TOPMed gnomAD
CA396929902 rs1259781719	611	V>A		No	ClinGen gnomAD
rs1567478606 CA396929898	612	K>*		No	ClinGen Ensembl
rs1597314459 CA396929893	612	K>N		No	ClinGen Ensembl
rs755212535 CA8201144	615	P>A		No	ClinGen ExAC gnomAD
rs754152781 CA8201143	616	T>I		No	ClinGen ExAC TOPMed gnomAD
CA285451123 rs754152781	616	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1181095244 CA396929868	617	P>A		No	ClinGen gnomAD
rs1464008734 CA396929865	617	P>H		No	ClinGen TOPMed
CA8201141 rs140160203	618	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA396929859 rs140160203	618	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA396929863 rs1235008271	618	P>T		No	ClinGen TOPMed gnomAD
CA396929858 rs1277146482	619	R>G		No	ClinGen gnomAD
rs1205577462 CA396929855	619	R>P		No	ClinGen TOPMed gnomAD
COSM169113 rs1205577462 CA396929856	619	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	622	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8201138 rs186464050	623	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	624	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267742587 CA396929824	624	L>V		No	ClinGen TOPMed gnomAD
rs769036670 CA396929779	629	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8201135 rs74590259	630	N>S		No	ClinGen ExAC gnomAD
rs74590259 CA285451097	630	N>T		No	ClinGen ExAC gnomAD
CA285451092 rs372754146	632	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP NCI-TCGA TOPMed
CA285451089 rs372754146	632	R>P		No	ClinGen 1000Genomes ESP TOPMed
CA8201134 rs776327322	633	Y>C		No	ClinGen ExAC gnomAD
CA285451081 rs202074641	635	P>R		No	ClinGen Ensembl
rs770345773 CA8201133	635	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777162804 CA285451071	636	G>A		No	ClinGen ExAC TOPMed gnomAD
rs954769831 CA285451075	636	G>C		No	ClinGen TOPMed gnomAD
CA396929745 rs954769831	636	G>S		No	ClinGen TOPMed gnomAD
CA8201131 rs777162804	636	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8201130 rs368462390	637	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425508216 CA396929732	638	F>Y		No	ClinGen TOPMed
CA8201127 rs754868352	639	P>A		No	ClinGen ExAC gnomAD
TCGA novel	643	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780390400 CA8201125	646	K>N		No	ClinGen ExAC gnomAD
CA396929672 rs1356799198	646	K>R		No	ClinGen gnomAD
CA285451051 rs770972026	647	N>H		No	ClinGen Ensembl
CA396929653 rs1169682601	649	P>A		No	ClinGen TOPMed
CA396929633 rs1247547799	652	W>R		No	ClinGen gnomAD
rs1005386573 CA285450102	653	N>S		No	ClinGen TOPMed
CA396929230 rs1567477517	654	G>R		No	ClinGen Ensembl
CA285450090 rs958375655	657	I>V		No	ClinGen Ensembl
CA285450083 rs994760324	659	T>S		No	ClinGen Ensembl
rs768653763 CA8201093	660	N>D		No	ClinGen ExAC gnomAD
CA396929146 rs749255568	660	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1271346261 CA396929108	663	D>G		No	ClinGen gnomAD
rs1490453575 CA396929088	664	M>I		No	ClinGen gnomAD
CA8201091 rs775312827	664	M>T		No	ClinGen ExAC TOPMed gnomAD
rs897628296 CA285450068	669	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1295626525 CA396929004	670	S>R		No	ClinGen TOPMed
CA8201088 rs781339323	673	Y>H		No	ClinGen ExAC gnomAD
rs1027752054 CA285450065	675	V>A		No	ClinGen TOPMed
CA8201085 rs777854307	679	G>R		No	ClinGen ExAC gnomAD
rs1464012827 CA396928926	680	A>D		No	ClinGen TOPMed gnomAD
CA396928929 rs1296932474	680	A>S		No	ClinGen TOPMed gnomAD
CA396928931 rs1296932474	680	A>T		No	ClinGen TOPMed gnomAD
rs1464012827 CA396928927	680	A>V		No	ClinGen TOPMed gnomAD
CA8201083 rs753186553	681	P>L		No	ClinGen ExAC TOPMed gnomAD
rs376793835 CA285450051	681	P>S		No	ClinGen ESP TOPMed gnomAD
rs1468311479 CA396928921	682	F>I		No	ClinGen TOPMed gnomAD
TCGA novel	682	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468311479 CA396928919	682	F>V		No	ClinGen TOPMed gnomAD
rs1567477394 CA396928876	688	S>G		No	ClinGen Ensembl
CA8201080 rs750083240	688	S>N		No	ClinGen ExAC gnomAD
rs1480633932 CA396928869	689	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA285450035 rs1050972863	689	Q>H		No	ClinGen Ensembl
CA396928867 rs1249619275	689	Q>P		No	ClinGen gnomAD
rs767212725 CA8201079	690	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA285450029 rs767212725	690	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA396928862 rs1175382834	690	Y>H		No	ClinGen TOPMed gnomAD
rs1442655143 CA396928842	691	G>D		No	ClinGen gnomAD
CA396928857 rs1446689218	691	G>S		No	ClinGen TOPMed
CA396928828 rs1417537481	693	L>F		No	ClinGen gnomAD
rs1183605845 CA396928831	693	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8201051 rs372381157	694	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA285449736 rs1019058482 TCGA novel	695	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA8201050 rs772186156	695	M>T		No	ClinGen ExAC gnomAD
CA396928804 rs1486386064	697	D>E		No	ClinGen gnomAD
CA396928801 rs1597311656	698	S>G		No	ClinGen Ensembl
rs1291563268 CA396928797	698	S>I		No	ClinGen TOPMed gnomAD
CA396928799 rs1291563268	698	S>N		No	ClinGen TOPMed gnomAD
rs370005463 CA285449732	700	E>D		No	ClinGen ESP TOPMed gnomAD
rs1475890707 CA396928786	700	E>K		No	ClinGen gnomAD
rs748107698 CA8201049	701	E>D		No	ClinGen ExAC gnomAD
rs1227752542 CA396928769	702	Y>S		No	ClinGen gnomAD
CA396928755 rs1324815558	704	P>A		No	ClinGen gnomAD
CA285449730 rs1014262019	704	P>L		No	ClinGen Ensembl
CA285449726 rs779062680	707	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8201047 rs768994789 COSM197213	708	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA285449716 rs141202319	708	A>V		No	ClinGen ESP TOPMed
rs749829999 CA8201046	710	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8201043 rs751240229	711	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8201044 rs200208765	711	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146699513 CA8201042	713	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752103362 CA8201040 COSM1318548	714	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA285449702 rs200431341	715	D>E		No	ClinGen gnomAD
rs143238038 CA8201038	715	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA396928690 rs1428707709	715	D>N		No	ClinGen gnomAD
rs753822982 CA8201037	716	N>D		No	ClinGen ExAC gnomAD
CA8201035 rs772994220	716	N>K		No	ClinGen ExAC TOPMed gnomAD
rs766150708 CA8201036	716	N>S		No	ClinGen ExAC gnomAD
rs762117285 CA8201032	717	G>D		No	ClinGen ExAC gnomAD
COSM339643 CA8201033 rs140509920	717	G>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8201031 COSM1609718 rs774251100	719	S>L	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749788142 CA8201029	720	L>F		No	ClinGen ExAC gnomAD
CA396928659 rs1303665984	721	V>I		No	ClinGen TOPMed gnomAD
rs192649025 CA8201027	724	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396928636 rs1169094981	724	S>N		No	ClinGen gnomAD
rs1214763632 CA396928625	725	D>E		No	ClinGen gnomAD
CA8201026 rs746180179	725	D>N		No	ClinGen ExAC gnomAD
CA8201025 rs781639961	726	W>R		No	ClinGen ExAC gnomAD
rs757952811 CA8201024	729	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757952811 CA396928596	729	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8201023 rs747875157	731	V>A		No	ClinGen ExAC gnomAD
CA396928586 rs1250895047	731	V>F		No	ClinGen TOPMed
CA396928587 rs1250895047	731	V>L		No	ClinGen TOPMed
CA396928578 rs1436526145	732	M>K		No	ClinGen gnomAD
CA396928580 rs1436526145	732	M>T		No	ClinGen gnomAD
CA8201022 rs778264956	733	R>S		No	ClinGen ExAC TOPMed gnomAD
CA396928571 rs1480728248	733	R>T		No	ClinGen TOPMed
rs1196386990 CA396928551	736	K>R		No	ClinGen gnomAD
rs754576279 CA285449678	737	F>L		No	ClinGen ExAC TOPMed gnomAD
CA396928535 rs1168761016	738	Y>C		No	ClinGen TOPMed
TCGA novel	738	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA285449676 rs974528765	739	D>G		No	ClinGen Ensembl
CA8201020 rs753772256	740	E>K		No	ClinGen ExAC gnomAD
CA8201019 rs766236661	743	R>G		No	ClinGen ExAC gnomAD
rs1394300212 CA396928483	744	Q>*		No	ClinGen TOPMed
rs1358567469 CA396928479	744	Q>H		No	ClinGen gnomAD
rs957237904 CA285449069	744	Q>R		No	ClinGen TOPMed
CA8200987 rs771196358	745	W>R		No	ClinGen ExAC gnomAD
rs1247525431 CA396928466	746	W>S		No	ClinGen gnomAD
CA8200986 rs761036313	748	P>L		No	ClinGen ExAC gnomAD
CA285449057 rs200002576	750	T>A		No	ClinGen gnomAD
CA396928431 rs1294222120	751	G>A		No	ClinGen TOPMed
rs748969675 CA8200983	751	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA285449048 rs967208601	752	G>V		No	ClinGen TOPMed
TCGA novel	753	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8200982 rs564395196	755	I>M		No	ClinGen ExAC TOPMed gnomAD
CA396928396 rs1364182520	757	A>S		No	ClinGen gnomAD
CA8200981 COSM1732424 rs769339105	758	L>V	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1479646290 CA396928387	759	N>D		No	ClinGen gnomAD
rs1418941047 CA396928383	759	N>I		No	ClinGen gnomAD
CA396928384 rs1418941047	759	N>S		No	ClinGen gnomAD
CA396928353 rs1234074167	764	V>L		No	ClinGen gnomAD
CA396928330 rs1184885248	765	W>C		No	ClinGen gnomAD
CA396928337 rs1271432266	765	W>L		No	ClinGen TOPMed
rs1242925956 CA396928316	766	N>K		No	ClinGen gnomAD
rs781255450 CA8200979	766	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1597309905 CA396928279	769	F>V		No	ClinGen Ensembl
CA8200977 rs751322831	770	S>T		No	ClinGen ExAC gnomAD
rs758667210 CA8200975	771	D>G		No	ClinGen ExAC gnomAD
TCGA novel	772	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396928222 rs1265556756	773	L>P		No	ClinGen TOPMed
rs1469514164 CA396928215	774	Y>F		No	ClinGen TOPMed
rs753022250 CA8200974	779	T>I		No	ClinGen ExAC gnomAD
CA285445502 rs934016568	780	L>M		No	ClinGen Ensembl
rs922830812 CA285445499	780	L>Q		No	ClinGen Ensembl
CA396928159 rs572479409	782	N>K		No	ClinGen gnomAD
rs765394838 CA8200973	783	H>D		No	ClinGen ExAC gnomAD
CA396928156 rs1597309830	783	H>R		No	ClinGen Ensembl
CA396928122 rs1171608311	785	M>I		No	ClinGen TOPMed
rs746956530 CA8200939	785	M>T		No	ClinGen ExAC gnomAD
rs1316768461 CA396928102	788	A>G		No	ClinGen TOPMed gnomAD
CA8200938 rs773350884	788	A>S		No	ClinGen ExAC gnomAD
CA396928105 rs773350884	788	A>T		No	ClinGen ExAC gnomAD
rs1316768461 CA396928101	788	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396928094 rs1371413929	790	G>W		No	ClinGen TOPMed
rs1025889622 CA396928074	792	S>R		No	ClinGen gnomAD
rs778875156 CA8200935	793	I>L		No	ClinGen ExAC TOPMed gnomAD
rs778875156 CA396928072	793	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8200933 rs749508986	794	A>T		No	ClinGen ExAC TOPMed gnomAD
rs542728817 CA8200932	794	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485054364 CA396928061	795	K>E		No	ClinGen gnomAD
CA285445066 rs1006817265	796	F>L		No	ClinGen gnomAD
CA8200930 rs138142996	799	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA285445055 rs771967451	800	G>D		No	ClinGen Ensembl
CA8200928 rs374217477	801	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374217477 CA8200927	801	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8200925 rs759205530	802	V>A		No	ClinGen ExAC gnomAD
rs764408404 CA396928016	802	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764408404 CA8200926	802	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM124351 CA8200923 rs765914290	805	Q>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760040196 CA8200922	806	T>I		No	ClinGen ExAC gnomAD
rs772865552 CA396927982 CA8200921	807	F>L		No	ClinGen ExAC TOPMed gnomAD
rs150441032 CA8200920	808	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs748124706 CA8200919	809	D>H		No	ClinGen ExAC TOPMed gnomAD
CA396927501 rs1597306484	814	V>G		No	ClinGen Ensembl
rs1195293602 CA396927506	814	V>I		No	ClinGen gnomAD
CA8200882 rs779368224	815	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8200881 rs755794928	818	E>A		No	ClinGen ExAC TOPMed gnomAD
rs35417190 CA8200879	821	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767118837 CA8200878	822	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767118837 CA285443785	822	V>I		No	ClinGen ExAC TOPMed gnomAD
rs763878760 CA8200875	825	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	826	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8200874 rs762968189	826	P>R		No	ClinGen ExAC gnomAD
rs138967616 CA8200872	827	I>T		No	ClinGen ESP ExAC
rs759742244 CA8200871	830	L>V		No	ClinGen ExAC gnomAD
CA8200870 rs747506713	831	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA396927400 rs747506713	831	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA396927399 rs747506713	831	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA8200869 rs145091497	833	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396927378 rs1414976419	834	P>A		No	ClinGen TOPMed gnomAD
CA396927376 rs1345338042	834	P>L		No	ClinGen TOPMed
rs376241284 CA8200867	837	G>S		No	ClinGen ESP ExAC gnomAD
CA396927355 rs1240053295	837	G>V		No	ClinGen TOPMed gnomAD
rs1475304119 CA396927351	838	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8200866 rs563500548	839	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396927339 rs1261510120	840	R>Q		No	ClinGen gnomAD
rs1460989146 CA396927342	840	R>W		No	ClinGen TOPMed gnomAD
CA396927333 rs1346940862	841	I>M		No	ClinGen gnomAD
rs748732082 CA8200865	841	I>T		No	ClinGen ExAC gnomAD
rs755449425 CA8200863	842	V>I		No	ClinGen ExAC gnomAD
CA8200864 rs755449425	842	V>L		No	ClinGen ExAC gnomAD
rs889277286 CA285443700	843	L>M		No	ClinGen TOPMed
CA8200861 rs780921067	844	Y>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750092763 CA8200862	844	Y>N		No	ClinGen ExAC gnomAD
rs1485097361 CA396927318	845	G>W		No	ClinGen gnomAD
CA8200860 rs756984033	846	D>Y		No	ClinGen ExAC gnomAD
rs1378405045 CA396927301	847	S>C		No	ClinGen TOPMed
CA8200859 rs772622114	848	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1209883414 CA396927244	855	R>*		No	ClinGen TOPMed gnomAD
rs758247595 CA8200857	855	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1567473478 CA396927237	856	Q>R		No	ClinGen Ensembl
CA8200832 rs142967505	858	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs760789068 CA8200831	861	W>R		No	ClinGen ExAC gnomAD
rs569377968 CA285441914	862	L>F		No	ClinGen 1000Genomes
rs1348675792 CA396927077	864	D>V		No	ClinGen gnomAD
CA8200829 rs767487861	865	A>T		No	ClinGen ExAC gnomAD
rs1406036099 CA396927067	865	A>V		No	ClinGen gnomAD
rs994044732 CA285441901	867	L>R		No	ClinGen Ensembl
CA396927035 rs1476707936	868	Q>*		No	ClinGen TOPMed gnomAD
rs769236326 CA8200826	868	Q>R		No	ClinGen ExAC gnomAD
rs376819582 CA8200825	871	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371597006 CA396926996	871	S>T		No	ClinGen TOPMed
rs376819582 CA8200824	871	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs746639845 CA8200822	874	V>L		No	ClinGen ExAC TOPMed gnomAD
CA285441869 rs746639845	874	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8200821 rs528947771	875	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs747612365 CA8200819	876	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8200820 rs758001912	876	P>T		No	ClinGen ExAC TOPMed gnomAD
rs367696004 CA8200817	877	P>T		No	ClinGen ESP ExAC gnomAD
CA396926880 rs1366030118	878	S>N		No	ClinGen TOPMed gnomAD
CA396926857 rs1309514648	879	L>R		No	ClinGen gnomAD
rs753825245 CA8200816	880	S>G		No	ClinGen ExAC gnomAD
CA396926822 rs1597303048	881	H>P		No	ClinGen Ensembl
CA396926831 rs1354064773	881	H>Y		No	ClinGen gnomAD
CA396926806 rs1329423699	882	S>C		No	ClinGen gnomAD
CA396926804 rs1329423699	882	S>F		No	ClinGen gnomAD
CA8200815 rs779808157	883	G>A		No	ClinGen ExAC gnomAD
CA396926783 rs1597303026	884	N>T		No	ClinGen Ensembl
COSM1380152 rs1424613321 CA396926755	885	R>C	Variant assessed as Somatic; 4.725e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs756001167 CA285441823	885	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756001167 CA8200814	885	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750185773 CA8200813	886	Q>H		No	ClinGen ExAC gnomAD
rs767718099 CA8200812	887	R>C		No	ClinGen ExAC gnomAD
CA8200811 rs192163606	887	R>H	Variant assessed as Somatic; 4.686e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396926710 rs1191684979	888	P>H		No	ClinGen TOPMed
CA285441803 rs527858793	889	P>H		No	ClinGen Ensembl
rs1231767192 CA396926703	889	P>S		No	ClinGen TOPMed gnomAD
rs764307492 CA8200809	890	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8200808 rs763530636	891	G>R		No	ClinGen ExAC gnomAD
rs770208882 CA8200807	892	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8200806 rs770208882	892	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201667603 CA8200805	894	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396926639 rs1432017808	894	S>P		No	ClinGen TOPMed
CA396926625 rs1310877524	895	V>D		No	ClinGen gnomAD
TCGA novel	897	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8200803 rs145436033	897	P>L		No	ClinGen ESP ExAC gnomAD
CA396926578 rs1373296547	898	E>G		No	ClinGen gnomAD
rs778374749 CA8200801	900	M>K		No	ClinGen ExAC gnomAD
rs778374749 CA396926550	900	M>T		No	ClinGen ExAC gnomAD
rs144315557 CA8200802	900	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401290145 CA396926532	901	E>G		No	ClinGen TOPMed gnomAD
CA396925785 rs1323665992	902	G>A		No	ClinGen gnomAD
TCGA novel	902	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396926520 rs1567471677	902	G>R		No	ClinGen Ensembl
rs987907304 CA285440869	903	N>D		No	ClinGen TOPMed
rs140362816 CA8200777	903	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA396925768 rs1463970062	904	H>N		No	ClinGen TOPMed
rs1396385651 CA396925764	904	H>R		No	ClinGen gnomAD
rs781016141 CA8200776	906	H>R		No	ClinGen ExAC gnomAD
CA8200774 rs746806114	907	R>Q	Variant assessed as Somatic; 0.0002774 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8200775 rs147197996	907	R>W	Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8200772 rs771621914	908	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA396925722 rs1162069046	908	Y>H		No	ClinGen gnomAD
rs1369833341 CA396925702	909	S>C		No	ClinGen gnomAD
CA396925691 rs1165093255	910	K>R		No	ClinGen gnomAD
rs370488919 CA8200771	914	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765277144 CA8200770	915	H>R		No	ClinGen ExAC gnomAD
CA285440850 rs958201138	915	H>Y		No	ClinGen gnomAD
rs766765676 CA396925580	919	P>A		No	ClinGen ExAC TOPMed gnomAD
rs952345037 CA285440842	919	P>L		No	ClinGen TOPMed gnomAD
rs952345037 CA396925574	919	P>R		No	ClinGen TOPMed gnomAD
rs766765676 CA8200767	919	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1316332435 CA396925570	920	K>E		No	ClinGen TOPMed gnomAD
CA396925561 rs1275999702	920	K>N		No	ClinGen gnomAD
CA8200766 rs760960275	921	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8200764 rs763683064	922	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8200765 rs773577463	922	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8200763 rs775034108	923	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8200762 rs775034108	923	P>R		No	ClinGen ExAC gnomAD
rs745803034 CA8200761	925	P>A		No	ClinGen ExAC gnomAD
rs1255044127 CA396925512	925	P>R		No	ClinGen TOPMed
CA8200760 rs745803034	925	P>S		No	ClinGen ExAC gnomAD
rs1477158291 CA396925503	926	A>T		No	ClinGen TOPMed
rs1464740073 CA396925473	928	P>A		No	ClinGen gnomAD
rs1464740073 CA396925468	928	P>T		No	ClinGen gnomAD
CA8200759 rs776497460	929	R>C		No	ClinGen ExAC gnomAD
rs771007151 COSM974324 CA8200758	929	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777743370 CA8200756 CA396925431	930	L>F		No	ClinGen ExAC gnomAD
rs1197418589 CA396925434	930	L>W		No	ClinGen TOPMed gnomAD
TCGA novel	931	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268100164 CA396925397	932	W>*		No	ClinGen gnomAD
rs1597300932 CA396925410	932	W>G		No	ClinGen Ensembl
CA285440795 rs748535059	933	A>S		No	ClinGen ExAC gnomAD
CA8200755 rs748535059	933	A>T		No	ClinGen ExAC gnomAD
CA396925382 rs1169118991	933	A>V		No	ClinGen TOPMed
rs1456568442 CA396925377	934	K>E		No	ClinGen gnomAD
rs1032545980 CA285440785	934	K>M		No	ClinGen TOPMed gnomAD
CA396925371 rs1032545980	934	K>R		No	ClinGen TOPMed gnomAD
CA396925359 rs1260304879	935	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396925363 rs1260304879	935	P>T		No	ClinGen TOPMed gnomAD
rs1200302139 CA396925348	936	Q>K		No	ClinGen gnomAD
CA396925315 rs1351328955	937	P>L		No	ClinGen TOPMed
CA285440781 rs902956567	940	E>K		No	ClinGen TOPMed gnomAD
CA8200753 rs779039919	941	T>A		No	ClinGen ExAC gnomAD
rs139138066 CA8200751	941	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8200752 rs139138066	941	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139138066 CA396925241	941	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756632031 CA8200749	942	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396925192 rs1466437664	944	S>C		No	ClinGen TOPMed gnomAD
CA396925193 rs1466437664	944	S>G		No	ClinGen TOPMed gnomAD
rs778242766 CA8200709	948	K>R		No	ClinGen ExAC gnomAD
CA396924468 rs1487236382	949	H>Q		No	ClinGen gnomAD
CA8200708 rs141348745	949	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396924466 rs1265324289	950	Q>K		No	ClinGen gnomAD
rs148088429 CA8200706	954	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs760200767 CA8200705	955	I>T		No	ClinGen ExAC gnomAD
CA8200704 rs749970230	957	L>P		No	ClinGen ExAC gnomAD
CA8200702 rs761837606	958	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1290039487 CA396924413	958	D>G		No	ClinGen gnomAD
CA8200703 rs767305651	958	D>N		No	ClinGen ExAC gnomAD
CA8200701 rs202077732	959	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA396924392 rs1415411000	961	V>G		No	ClinGen gnomAD
CA285438351 rs1048957749	962	L>S		No	ClinGen TOPMed gnomAD
rs763147734 CA8200699	962	L>V		No	ClinGen ExAC gnomAD
CA285438347 rs1004001957	963	P>L		No	ClinGen Ensembl
rs775753866 CA8200698	963	P>T		No	ClinGen ExAC gnomAD
rs144657994 CA8200697	964	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144657994 CA396924378	964	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA396924375 rs1157329454	965	F>I		No	ClinGen TOPMed gnomAD
rs374694028 CA8200695	965	F>L		No	ClinGen ESP ExAC gnomAD
CA396924364 rs1477942796	966	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396924360 rs1473888155	967	S>*		No	ClinGen TOPMed gnomAD
CA8200691 rs374310658	968	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748531460 CA8200690	969	R>C		No	ClinGen ExAC gnomAD
rs748531460 CA396924349	969	R>G		No	ClinGen ExAC gnomAD
rs779798413 CA8200689	969	R>H		No	ClinGen ExAC gnomAD
rs899765614 CA285438320	972	V>A		No	ClinGen TOPMed
CA8200686 rs767092640	976	S>F		No	ClinGen ExAC TOPMed gnomAD
rs767092640 CA8200687	976	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs534207727 CA8200685	977	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs751570734 CA8200684	978	G>R		No	ClinGen ExAC gnomAD
rs1399834955 CA396924246	979	E>D		No	ClinGen gnomAD
rs139554174 CA8200682	981	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396924215 rs145043514	982	A>S		No	ClinGen ESP ExAC gnomAD
CA8200680 rs145043514	982	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA396924184 rs1422993039	984	D>A		No	ClinGen gnomAD
rs950162590 CA285438301	984	D>E		No	ClinGen gnomAD
rs146299475 CA396924191	984	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146299475 RCV000888402 CA8200679	984	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396924175 rs1454385957	985	I>V		No	ClinGen gnomAD
CA396924164 rs538050339	986	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396924163 rs538050339	986	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8200678 rs538050339	986	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759495532 CA285438295	987	G>A		No	ClinGen Ensembl
rs1458830366 CA396924151	987	G>R		No	ClinGen gnomAD
CA396924040 rs1488218760	990	M>T		No	ClinGen gnomAD
rs753591760 CA8200641	991	P>A		No	ClinGen ExAC gnomAD
CA8200639 rs760842300	991	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8200640 rs760842300	991	P>R		No	ClinGen ExAC TOPMed gnomAD
CA396924027 rs1486256864	992	G>D		No	ClinGen gnomAD
rs767750609 CA8200637	993	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762392866 CA8200636	993	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8200635 rs775061964	994	Y>C		No	ClinGen ExAC gnomAD
CA396924009 rs1339738461 COSM3717114	995	N>K	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8200633 rs763318428	1000	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8200634 rs769289448	1000	Q>R		No	ClinGen ExAC gnomAD
rs775738548 CA8200632	1001	T>S		No	ClinGen ExAC gnomAD
CA396923955 rs1396244456	1003	P>H		No	ClinGen gnomAD
CA285437339 rs968237029	1004	V>I		No	ClinGen Ensembl
rs963761340 CA285437334	1007	F>L		No	ClinGen TOPMed
CA8200630 rs746689201	1011	M>V		No	ClinGen ExAC gnomAD
rs1337080502 CA396923897	1012	V>G		No	ClinGen gnomAD
CA396923895 rs1422067066	1013	V>I		No	ClinGen gnomAD
rs983835611 CA285437321	1015	A>D		No	ClinGen TOPMed gnomAD
rs777252115 CA8200629	1015	A>S		No	ClinGen ExAC gnomAD
CA8200628 rs771638933	1016	F>L		No	ClinGen ExAC gnomAD
rs1274103334 CA396923864	1018	V>M		No	ClinGen gnomAD
TCGA novel	1020	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396923854 rs1214088891	1020	Q>K		No	ClinGen TOPMed gnomAD
rs1597294312 CA396923842	1021	I>T		No	ClinGen Ensembl
rs1415466821 CA396923845	1021	I>V		No	ClinGen TOPMed
CA285437310 rs955009181	1022	N>K		No	ClinGen TOPMed
rs1317125093 CA396923835	1022	N>S		No	ClinGen gnomAD
CA396923818 rs1229469460	1025	K>Q		No	ClinGen gnomAD
CA396923796 rs1299926556	1027	R>S		No	ClinGen gnomAD
CA396923790 rs1372724887	1028	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396923793 COSM269558 rs1384634119	1028	P>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8200621 rs199782320	1030	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8200623 rs376705249	1030	R>W		No	ClinGen ESP ExAC gnomAD
rs1305479636 CA396923778	1031	R>G		No	ClinGen Ensembl
CA285437291 rs777035069	1031	R>K		No	ClinGen TOPMed
rs1030576478 CA285437287	1034	R>K		No	ClinGen TOPMed gnomAD
CA396923755 rs1030576478	1034	R>M		No	ClinGen TOPMed gnomAD
COSM435862 CA396923753 rs1297617230	1034	R>S	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1462881557 CA396923752	1035	V>M		No	ClinGen gnomAD
rs1377570695 CA396923743	1036	K>T		No	ClinGen TOPMed gnomAD
CA285437283 rs996381223	1037	R>C		No	ClinGen TOPMed gnomAD
CA8200620 rs750666666	1037	R>H		No	ClinGen ExAC gnomAD
rs373421924 CA8200619	1038	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA285437277 rs900669578	1038	P>S		No	ClinGen TOPMed
rs1263038164 CA396923720	1040	L>F		No	ClinGen TOPMed
rs751700681 CA8200617	1041	M>I		No	ClinGen ExAC TOPMed gnomAD
CA396923700 rs1202857170	1043	Q>E		No	ClinGen TOPMed
CA396923693 COSM974320 rs1284611010	1043	Q>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1270541163 CA396923695	1043	Q>L		No	ClinGen gnomAD
rs1339981629 CA396923689	1044	V>A		No	ClinGen TOPMed gnomAD
rs1339981629 CA396923688	1044	V>G		No	ClinGen TOPMed gnomAD
rs1042077586 CA285437264	1044	V>I		No	ClinGen TOPMed gnomAD
rs1597294192 CA396923682	1045	H>P		No	ClinGen Ensembl
CA8200616 rs369203745	1046	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA285437255 rs896641161	1047	P>T		No	ClinGen Ensembl
rs1035627215 CA285437248	1049	T>S		No	ClinGen Ensembl
rs1374200901 CA396923653	1050	P>R		No	ClinGen gnomAD
CA8200611 rs772786938	1050	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771728936 CA396923648	1051	S>*		No	ClinGen ExAC TOPMed gnomAD
CA8200610 rs771728936	1051	S>L		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q14703

1 regional properties for Q14703

Type	Name	Position	InterPro Accession
domain	Ubiquitin-conjugating enzyme E2	10 - 160	IPR000608

Functions

		Description
EC Number	3.4.21.112	Serine endopeptidases
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass type I membrane protein Golgi apparatus membrane ; Single-pass type I membrane protein	May sort to other organelles, including lysosomal and/or endosomal compartments
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
Golgi stack	The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack.
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.

1 GO annotations of molecular function

Name	Definition
serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).

10 GO annotations of biological process

Name	Definition
ATF6-mediated unfolded protein response	The series of molecular signals mediated by the endoplasmic reticulum membrane stress sensor ATF6 (activating transcription factor 6). Begins with activation of ATF6 in response to endoplasmic reticulum (ER) stress, and ends with regulation of a downstream cellular process, e.g. transcription. Under conditions of endoplasmic reticulum stress, ATF6 translocates to the Golgi where it is processed by proteases to release a cytoplasmic domain (ATF6f), which operates as a transcriptional activator of many genes required to restore folding capacity.
cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
endoplasmic reticulum unfolded protein response	The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation.
lysosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
membrane protein intracellular domain proteolysis	The proteolytic cleavage of a transmembrane protein leading to the release of an intracellular domain.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of cholesterol biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.
regulation of vesicle-mediated transport	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.
response to endoplasmic reticulum stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NBP7	PCSK9	Proprotein convertase subtilisin/kexin type 9	Homo sapiens (Human)	EV
Q9WTZ2	Mbtps1	Membrane-bound transcription factor site-1 protease	Mus musculus (Mouse)	PR
Q9WTZ3	Mbtps1	Membrane-bound transcription factor site-1 protease	Rattus norvegicus (Rat)	PR
Q0WUG6	SBT6.1	Subtilisin-like protease SBT6.1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKLVNIWLLL	LVVLLCGKKH	LGDRLEKKSF	EKAPCPGCSH	LTLKVEFSST	VVEYEYIVAF
70	80	90	100	110	120
NGYFTAKARN	SFISSALKSS	EVDNWRIIPR	NNPSSDYPSD	FEVIQIKEKQ	KAGLLTLEDH
130	140	150	160	170	180
PNIKRVTPQR	KVFRSLKYAE	SDPTVPCNET	RWSQKWQSSR	PLRRASLSLG	SGFWHATGRH
190	200	210	220	230	240
SSRRLLRAIP	RQVAQTLQAD	VLWQMGYTGA	NVRVAVFDTG	LSEKHPHFKN	VKERTNWTNE
250	260	270	280	290	300
RTLDDGLGHG	TFVAGVIASM	RECQGFAPDA	ELHIFRVFTN	NQVSYTSWFL	DAFNYAILKK
310	320	330	340	350	360
IDVLNLSIGG	PDFMDHPFVD	KVWELTANNV	IMVSAIGNDG	PLYGTLNNPA	DQMDVIGVGG
370	380	390	400	410	420
IDFEDNIARF	SSRGMTTWEL	PGGYGRMKPD	IVTYGAGVRG	SGVKGGCRAL	SGTSVASPVV
430	440	450	460	470	480
AGAVTLLVST	VQKRELVNPA	SMKQALIASA	RRLPGVNMFE	QGHGKLDLLR	AYQILNSYKP
490	500	510	520	530	540
QASLSPSYID	LTECPYMWPY	CSQPIYYGGM	PTVVNVTILN	GMGVTGRIVD	KPDWQPYLPQ
550	560	570	580	590	600
NGDNIEVAFS	YSSVLWPWSG	YLAISISVTK	KAASWEGIAQ	GHVMITVASP	AETESKNGAE
610	620	630	640	650	660
QTSTVKLPIK	VKIIPTPPRS	KRVLWDQYHN	LRYPPGYFPR	DNLRMKNDPL	DWNGDHIHTN
670	680	690	700	710	720
FRDMYQHLRS	MGYFVEVLGA	PFTCFDASQY	GTLLMVDSEE	EYFPEEIAKL	RRDVDNGLSL
730	740	750	760	770	780
VIFSDWYNTS	VMRKVKFYDE	NTRQWWMPDT	GGANIPALNE	LLSVWNMGFS	DGLYEGEFTL
790	800	810	820	830	840
ANHDMYYASG	CSIAKFPEDG	VVITQTFKDQ	GLEVLKQETA	VVENVPILGL	YQIPAEGGGR
850	860	870	880	890	900
IVLYGDSNCL	DDSHRQKDCF	WLLDALLQYT	SYGVTPPSLS	HSGNRQRPPS	GAGSVTPERM
910	920	930	940	950	960
EGNHLHRYSK	VLEAHLGDPK	PRPLPACPRL	SWAKPQPLNE	TAPSNLWKHQ	KLLSIDLDKV
970	980	990	1000	1010	1020
VLPNFRSNRP	QVRPLSPGES	GAWDIPGGIM	PGRYNQEVGQ	TIPVFAFLGA	MVVLAFFVVQ
1030	1040	1050
INKAKSRPKR	RKPRVKRPQL	MQQVHPPKTP	SV