AiPD: Autoinhibited Protein Database

Q6IWH7

Gene name	ANO7 (NGEP, PCANAP5, TMEM16G)
Protein name	Anoctamin-7
Names	Dresden transmembrane protein of the prostate, D-TMPP, IPCA-5, New gene expressed in prostate, Prostate cancer-associated protein 5, Transmembrane protein 16G
Species	Homo sapiens (Human)
KEGG Pathway	hsa:50636
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

18-127 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

18-127 (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 Q6IWH7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6IWH7-F1	Predicted				AlphaFoldDB

988 variants for Q6IWH7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs778217816 CA2214383	2	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1421902059 CA351354173	2	R>Q		No	ClinGen gnomAD
CA351354185 rs1559434707	3	M>V		No	ClinGen Ensembl
rs1574748137 CA351354220	4	A>P		No	ClinGen Ensembl
CA351354258 rs1163971703	5	A>V		No	ClinGen gnomAD
rs747524633 CA2214384	8	W>*		No	ClinGen ExAC gnomAD
rs1271531613 CA351354309	8	W>*		No	ClinGen TOPMed
rs201638265 CA351354341	9	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351354324 rs1426477829	9	A>T		No	ClinGen TOPMed gnomAD
CA2214385 rs201638265	9	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	11	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214387 rs746267631	14	P>L		No	ClinGen ExAC gnomAD
COSM1669906 rs1325954540 CA351354483	15	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs770008171 CA2214388	16	L>V		No	ClinGen ExAC gnomAD
rs775815563 CA2214389	17	P>L		No	ClinGen ExAC gnomAD
rs1574748235 CA351354545	18	T>P		No	ClinGen Ensembl
CA351354559 rs1439559100	19	L>V		No	ClinGen TOPMed
rs763022129 CA2214390	20	C>R		No	ClinGen ExAC gnomAD
CA2214392 rs375086052	21	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375086052 CA2214391	21	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351354598 rs1391763058	21	P>S		No	ClinGen TOPMed
rs143938594 CA2214395	22	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199544347 CA2214394	22	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2214393 rs199544347	22	A>T		No	ClinGen ExAC TOPMed gnomAD
CA351354632 rs1236002742	23	V>A		No	ClinGen TOPMed gnomAD
rs1483054952 CA351354654	25	T>A		No	ClinGen gnomAD
CA2214398 rs753532327	26	G>R		No	ClinGen ExAC gnomAD
rs764854526 CA2214400	28	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA351354708 rs1201604562	28	Y>H		No	ClinGen gnomAD
rs148609049 CA2214401	30	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148609049 CA351354763	30	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA68204926 rs150946357	30	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214402 rs150946357	30	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351354818 CA2214403 rs781683321	31	D>E		No	ClinGen ExAC TOPMed gnomAD
CA351354866 rs367625890	33	A>G		No	ClinGen ESP TOPMed gnomAD
CA68204931 rs367625890	33	A>V		No	ClinGen ESP TOPMed gnomAD
CA351354893 rs764664746	34	H>Q		No	ClinGen ExAC gnomAD
CA2214406 rs756508348	35	A>S		No	ClinGen ExAC gnomAD
rs756508348 CA2214405	35	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749652386 CA2214407	37	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2214408 rs768829230	39	A>T		No	ClinGen ExAC gnomAD
CA2214409 rs774683801	40	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1574748375 CA351354962	41	T>P		No	ClinGen Ensembl
rs949397572 CA68204982	42	S>P		No	ClinGen gnomAD
rs150079713 CA2214412	43	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1297924882 CA351354985	44	T>I		No	ClinGen TOPMed
rs371800035 CA2214413	46	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA351355026 rs1470480780	47	G>E		No	ClinGen gnomAD
CA2214414 rs376011925	47	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs776344854 CA2214415	48	S>R		No	ClinGen ExAC gnomAD
rs1174821551 CA351355067	49	H>D		No	ClinGen TOPMed
CA351355453 rs1487075438	53	S>R		No	ClinGen TOPMed gnomAD
CA351355516 rs1373965006	54	R>S		No	ClinGen gnomAD
rs1192086617 CA351355506	54	R>T		No	ClinGen gnomAD
rs1161964498 CA351355548	55	M>I		No	ClinGen gnomAD
CA2214443 rs558745232	55	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351355585 rs1426147210	56	L>P		No	ClinGen TOPMed gnomAD
rs758751051 CA2214446	57	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2214445 rs752979533	57	R>W		No	ClinGen ExAC gnomAD
CA2214448 rs201884340	58	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1018870 rs1381845912 CA351355609	58	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2214450 rs148106236	59	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs143588052 CA2214449	59	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs745742731 CA2214451	60	A>V		No	ClinGen ExAC gnomAD
CA351355657 rs1358584297	61	Q>E		No	ClinGen gnomAD
CA2214452 rs769595495	61	Q>R		No	ClinGen ExAC gnomAD
CA2214454 rs371262700	65	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351355829 rs1320983877	66	T>S		No	ClinGen TOPMed
CA351355861 rs2302054	67	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_032616 CA2214456 rs2302054	67	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2214459 rs34069570	70	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	71	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367770225 CA2214463	73	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760062062 CA2214462	73	P>S		No	ClinGen ExAC gnomAD
CA351356077 rs1334404522	74	P>L		No	ClinGen gnomAD
CA351356073 rs753175781	74	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2214464 rs753175781	74	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1458743595 CA351356125	76	A>T		No	ClinGen TOPMed
rs866549830 CA68206272	77	E>*		No	ClinGen Ensembl
rs758800409 CA2214465 CA351356292	78	K>N		No	ClinGen ExAC gnomAD
rs150023062 CA2214467 RCV000946708	79	R>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1349741686 CA351356331	79	R>T		No	ClinGen TOPMed
CA351356346 rs1237621765	80	G>D		No	ClinGen gnomAD
CA351356358 rs1237621765	80	G>V		No	ClinGen gnomAD
rs757291441 CA2214468	81	S>F		No	ClinGen ExAC gnomAD
CA2214471 CA2214472 rs371479862	82	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214469 rs781278110	82	Y>H		No	ClinGen ExAC
CA351356458 rs1462080486	83	G>A		No	ClinGen gnomAD
COSM1018871 rs543636867 CA2214473	83	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1185964447 CA351356468	84	S>G		No	ClinGen gnomAD
CA351356511 rs1236818495	85	T>A		No	ClinGen gnomAD
CA68206297 rs370288925	87	H>D		No	ClinGen Ensembl
CA2214475 rs773907613	88	A>T		No	ClinGen ExAC TOPMed gnomAD
rs866019321 CA68206299	89	S>*		No	ClinGen TOPMed gnomAD
rs866019321 CA68206303	89	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs907397744 CA68206329	90	E>G		No	ClinGen gnomAD
rs1342836441 CA351356623	90	E>K		No	ClinGen TOPMed
rs763477706 CA2214507	94	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1422697664 CA351357428	95	Q>*		No	ClinGen gnomAD
CA351357432 rs1162336964	95	Q>L		No	ClinGen gnomAD
CA351357437 rs1254129488	96	A>E		No	ClinGen gnomAD
CA2214508 rs199899635	96	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351357435 rs199899635	96	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214509 rs1254129488	96	A>V		No	ClinGen gnomAD
CA2214514 rs754998661	97	A>S		No	ClinGen ExAC TOPMed
rs149159737 CA2214517	98	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA68207147 rs1006122622	99	C>G		No	ClinGen TOPMed gnomAD
TCGA novel	102	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214520 rs770567414	103	S>N		No	ClinGen ExAC gnomAD
rs780910752 CA2214521	105	A>T		No	ClinGen ExAC gnomAD
CA2214522 rs202238850	107	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214527 rs141913177	108	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214526 rs141913177	108	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214524 rs138809031	108	R>W		No	ClinGen ESP TOPMed gnomAD
CA351357634 rs772388595	109	I>M		No	ClinGen ExAC TOPMed gnomAD
CA68207186 rs773428343	110	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2214529 rs773428343	110	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1408881995 CA351359946	111	D>E		No	ClinGen gnomAD
rs1337803134 CA351359932	111	D>V		No	ClinGen gnomAD
CA2214551 rs139910519	113	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214553 rs149691575 COSM3364663	115	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2214554 rs149691575	115	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351360060 rs1281692226	116	W>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1306606 rs1559439895 CA351360095	117	E>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs541185495 CA68209784	118	E>K		No	ClinGen Ensembl
CA2214555 rs144999147	119	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214558 rs781017258	125	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs199644599 CA2214559	126	Q>R	Variant assessed as Somatic; 0.0002311 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2214563 rs758969537	130	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2214562 rs779375425	130	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1183042 CA2214561 rs779375425	130	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	131	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214565 rs572368669	131	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214564 rs778221406	131	R>W		No	ClinGen ExAC TOPMed gnomAD
CA351360374 rs1408693669	132	D>E		No	ClinGen gnomAD
CA351360376 rs1328851594	133	R>G		No	ClinGen gnomAD
CA68209862 rs1017783209	133	R>K		No	ClinGen TOPMed gnomAD
rs1355182515 CA351360410	134	T>I		No	ClinGen gnomAD
rs1355182515 CA351360407	134	T>R		No	ClinGen gnomAD
CA2214569 rs769927576	136	M>I		No	ClinGen ExAC gnomAD
rs200513533 CA2214568	136	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200513533 CA2214567	136	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775503103 CA2214570 COSM1531629	137	H>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	137	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056200977 CA68209868	138	R>S		No	ClinGen Ensembl
rs764180440 CA2214572	140	W>*		No	ClinGen ExAC gnomAD
CA2214571 rs763097219	140	W>R		No	ClinGen ExAC gnomAD
rs199628606 CA2214574	141	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767152379 CA2214575	141	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2214573 rs199628606	141	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272283476 CA351360594	144	F>L		No	ClinGen gnomAD
rs1308005687 CA351360598	144	F>S		No	ClinGen gnomAD
CA2214577 rs755782302	145	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2214578 rs142236873	147	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA351360676 rs1574760225	148	L>V		No	ClinGen Ensembl
rs763945681 CA2214580 COSM1018872	149	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763945681 CA2214581	149	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2214582 rs150352902	149	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351360698 rs150352902	149	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1022214826 CA351360714	150	A>E		No	ClinGen TOPMed gnomAD
rs1022214826 CA68209919	150	A>V		No	ClinGen TOPMed gnomAD
CA2214584 rs543656184	153	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1432196852 CA351360787	154	C>S		No	ClinGen gnomAD
rs1161706704 CA351360799	155	V>I		No	ClinGen gnomAD
CA2214585 rs78972598 RCV000946709	156	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1173943401 CA351362977	158	Q>*		No	ClinGen gnomAD
rs1428389891 CA351362979	158	Q>P		No	ClinGen TOPMed gnomAD
rs148348281 CA2214627	160	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs148348281 CA351362992	160	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214628 rs563025685	161	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA68214119 rs777601769 CA2214630	163	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1351893490 CA351363024	164	N>K		No	ClinGen gnomAD
CA351363030 rs1402749368	165	T>S		No	ClinGen gnomAD
CA351363035 rs1283002673	166	T>I		No	ClinGen gnomAD
rs1371961508 CA351363045	168	H>Y		No	ClinGen TOPMed
CA2214631 rs746892635	169	Y>C		No	ClinGen ExAC gnomAD
CA351363059 rs141499501	170	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214633 rs141499501	170	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs759319059 CA2214634	170	A>V		No	ClinGen ExAC gnomAD
CA351363065 rs1324548681	171	L>F		No	ClinGen gnomAD
rs775078520 CA351363076	173	S>C		No	ClinGen ExAC TOPMed gnomAD
rs775078520 CA2214637	173	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2214638 rs568659741	173	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2214640 rs145166809	174	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1027493033 CA68214162	174	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	175	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214641 rs761303946	175	S>P		No	ClinGen ExAC gnomAD
rs766990123 CA2214642	176	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214643 rs754296069	177	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351363139 rs1574765191	182	Y>D		No	ClinGen Ensembl
CA2214645 rs765577295	183	A>S		No	ClinGen ExAC TOPMed gnomAD
CA351363154 rs765577295 COSM1183040	183	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	183	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777847341 CA2214648	184	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2214647 rs758411678	184	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1574765240 CA351363195	185	D>A		No	ClinGen Ensembl
rs1284184444 CA351363185	185	D>N		No	ClinGen gnomAD
rs757249002 CA2214650	187	R>C		No	ClinGen ExAC TOPMed gnomAD
rs149743431 CA2214651	187	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149743431 CA2214652	187	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757249002 CA351363242	187	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2214653 rs769541526	188	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1400501823 CA351363323	190	L>R		No	ClinGen TOPMed
rs775131941 CA2214654	191	P>S		No	ClinGen ExAC TOPMed gnomAD
CA351363380 rs1192658251	192	L>F		No	ClinGen gnomAD
CA2214656 rs768185134	193	Q>K		No	ClinGen ExAC gnomAD
CA2214657 rs773981613	193	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs139314813 CA2214676	194	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1574766212 CA351363623	195	L>F		No	ClinGen Ensembl
rs777279337 CA2214678	196	P>S		No	ClinGen ExAC gnomAD
CA351363664 rs1574766226	197	N>T		No	ClinGen Ensembl
TCGA novel	198	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465876065 CA351363670	198	Q>E		No	ClinGen TOPMed
CA2214680 rs765825598	199	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1193457279 CA351363688	199	A>V		No	ClinGen TOPMed
rs775989242 CA2214681	200	S>F		No	ClinGen ExAC gnomAD
rs763194116 CA351363728 CA2214682	201	N>K		No	ClinGen ExAC TOPMed gnomAD
CA68214891 rs952636425	201	N>T		No	ClinGen Ensembl
CA351363756 rs1459901131	202	W>*		No	ClinGen gnomAD
rs751693803 CA2214684	202	W>R		No	ClinGen ExAC gnomAD
rs201908062 CA2214685	203	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214688 rs373524213	205	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs961165714 CA68214930	207	L>P		No	ClinGen Ensembl
CA2214689 rs146489756	208	A>S		No	ClinGen ESP ExAC gnomAD
rs754683486 CA2214691	209	W>C		No	ClinGen ExAC gnomAD
CA351363927 rs1161773181	209	W>R		No	ClinGen gnomAD
TCGA novel	213	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771718133 CA2214695	214	N>K		No	ClinGen ExAC TOPMed gnomAD
rs747733500 CA2214693	214	N>S		No	ClinGen ExAC TOPMed gnomAD
rs747733500 CA351364031	214	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2214696 rs746511997	215	V>I		No	ClinGen ExAC TOPMed gnomAD
rs946989421 CA68214994	218	E>K		No	ClinGen Ensembl
CA351364173 rs1574766455	219	V>G		No	ClinGen Ensembl
rs774569976 CA2214701	219	V>I		No	ClinGen ExAC gnomAD
CA351364206 rs1218574435	220	V>L		No	ClinGen TOPMed gnomAD
rs376651533 CA2214704	221	P>L		No	ClinGen ESP ExAC gnomAD
CA2214703 rs376651533	221	P>R		No	ClinGen ESP ExAC gnomAD
rs762080443 CA2214702	221	P>T		No	ClinGen ExAC gnomAD
rs141587894 CA2214705	222	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150865579 CA2214707	223	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA68215091 rs902700135	224	P>A		No	ClinGen Ensembl
CA351364400 rs754803385	225	P>A		No	ClinGen ExAC gnomAD
rs754803385 CA2214709	225	P>S		No	ClinGen ExAC gnomAD
CA2214711 rs77482050	226	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000961034 CA2214710 rs77482050	226	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758191643 CA2214712	227	Y>D		No	ClinGen ExAC gnomAD
rs758191643 CA351364477	227	Y>H		No	ClinGen ExAC gnomAD
rs1265323622 CA351364522	228	Y>F		No	ClinGen TOPMed
rs746565088 CA2214714	229	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA351364662 rs369064125	231	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369064125 CA2214716	231	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214715 rs770296672	231	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2214717 rs781125201	232	F>L		No	ClinGen ExAC gnomAD
CA351364695 rs1559443042	233	R>G		No	ClinGen Ensembl
CA351364699 rs1256430050	233	R>K		No	ClinGen TOPMed
rs1345123356 CA351364770	234	V>G		No	ClinGen gnomAD
CA2214719 rs769194421	234	V>L		No	ClinGen ExAC gnomAD
rs769194421 CA2214718	234	V>M		No	ClinGen ExAC gnomAD
CA2214721 rs374021848	239	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs141127554 CA2214722	239	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA351364910 rs141127554	239	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394017347 CA351365887	240	F>L		No	ClinGen TOPMed
rs144166359 CA2214743	242	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351365984 rs1337044291	244	D>N		No	ClinGen gnomAD
rs1574768251 CA351366062	245	N>S		No	ClinGen Ensembl
CA2214746 rs775518191	246	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs765969414 CA2214748	246	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs762870783 CA2214747	246	Q>R		No	ClinGen ExAC gnomAD
CA68215968 rs951276185	247	D>E		No	ClinGen TOPMed
CA2214749 rs373608133	247	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA351366147 rs373608133	247	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs756927394 CA2214750	248	T>A		No	ClinGen ExAC TOPMed gnomAD
rs756927394 CA68215978	248	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2214753 rs60240337	250	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214754 rs755605916	251	T>I		No	ClinGen ExAC gnomAD
CA351366278 rs755605916	251	T>K		No	ClinGen ExAC gnomAD
rs758773032 CA2214757	254	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766009434 CA2214790	260	F>S		No	ClinGen ExAC TOPMed gnomAD
CA68216591 rs903266577	262	I>T		No	ClinGen TOPMed
rs1385394217 CA351367024	264	A>V		No	ClinGen gnomAD
rs764530986 CA2214793	267	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764530986 CA351367055 COSM1482962	267	P>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs368389233 CA2214796	268	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1183049 CA351367093 rs1205968418	269	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2214798 rs201441589	270	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA68216601 rs538706821	270	H>Y		No	ClinGen Ensembl
rs200196418 CA68216615	271	E>D		No	ClinGen TOPMed
CA2214800 rs145225314	271	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA351367168 rs1266456088	272	K>N		No	ClinGen gnomAD
rs1200981625 CA351367348	277	G>E		No	ClinGen gnomAD
CA351367315 rs1433676931	277	G>R		No	ClinGen gnomAD
rs768821320 CA2214801	278	I>N		No	ClinGen ExAC gnomAD
rs1448282490 CA351367451	280	Q>E		No	ClinGen gnomAD
CA351367472 rs1371969011	280	Q>H		No	ClinGen gnomAD
rs1354259820 CA351367512	282	L>P		No	ClinGen TOPMed
rs771887153 CA2214804	283	A>S		No	ClinGen ExAC gnomAD
CA2214805 rs540469145	285	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA351367598 rs1319056455	286	V>A		No	ClinGen gnomAD
CA2214806 rs200506103	287	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776216582 CA2214808	290	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1227076873 CA351367712	291	F>L		No	ClinGen gnomAD
CA351367722 rs1244396246	291	F>S		No	ClinGen gnomAD
CA2214811 rs774732335	292	P>L		No	ClinGen ExAC gnomAD
rs762450563 CA2214812	293	L>M		No	ClinGen ExAC
CA2214813 rs199605342	294	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA2214831 rs768092701	296	G>A		No	ClinGen ExAC gnomAD
rs768092701 CA2214830	296	G>V		No	ClinGen ExAC gnomAD
CA2214833 rs766794772	298	F>L		No	ClinGen ExAC
CA351368945 rs1305497751	299	K>R		No	ClinGen gnomAD
rs374614039 CA2214834	300	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1208771868 CA351368957	301	P>L		No	ClinGen gnomAD
CA2214836 rs755290927	301	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755290927 CA2214835	301	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1256118799 CA351368974	304	G>C		No	ClinGen gnomAD
rs374747359 CA2214837	305	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351368994 rs1179329707	307	A>D		No	ClinGen gnomAD
rs758357636 CA2214838	307	A>S		No	ClinGen ExAC gnomAD
CA351368996 rs1179329707	307	A>V		No	ClinGen gnomAD
CA351369000 rs1574771371	308	P>L		No	ClinGen Ensembl
rs138472746 CA2214839	309	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214841 rs757055477	309	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138472746 CA2214840	309	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483126379 CA351369021	312	Q>E		No	ClinGen TOPMed
CA2214842 rs781022420	312	Q>H		No	ClinGen ExAC gnomAD
rs368075617 CA2214844	313	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214845 rs150246596	313	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs150246596 CA2214846	313	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368075617 CA2214843	313	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1054241858 CA68217802	316	L>F		No	ClinGen TOPMed gnomAD
rs1054241858 CA68217800	316	L>I		No	ClinGen TOPMed gnomAD
CA351369057 rs1281105625	318	Q>*		No	ClinGen TOPMed gnomAD
rs773872093 CA351369063	319	H>D		No	ClinGen ExAC gnomAD
rs773872093 CA2214848	319	H>N		No	ClinGen ExAC gnomAD
rs375507696 CA351369082	321	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375507696 CA2214850	321	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214853 rs200243170	322	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144432512 CA2214854	322	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144432512 CA68217874	322	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351369112 rs1477974864	326	W>*		No	ClinGen gnomAD
rs529508055 CA2214856	326	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA351369118 rs1292500693	327	N>D		No	ClinGen gnomAD
CA351369124 rs1176564714	327	N>K		No	ClinGen TOPMed
rs1485497295 CA351369122	327	N>S		No	ClinGen gnomAD
rs375882821 CA2214857	328	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351369137 rs1447671828	329	Y>C		No	ClinGen gnomAD
CA2214859 rs139975872	330	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214861 rs755827220	331	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1039714319 CA68217905	332	L>M		No	ClinGen Ensembl
CA68217912 rs900108289	332	L>P		No	ClinGen Ensembl
CA351369215 rs1202516275	334	H>R		No	ClinGen TOPMed
rs748837286 CA2214863	335	V>M		No	ClinGen ExAC TOPMed
COSM3695404 rs369123528 CA2214864	336	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2214865 COSM1183046 rs201506858	336	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA68217931 rs999616828	337	R>S		No	ClinGen TOPMed gnomAD
CA2214866 rs747627636	338	Y>*		No	ClinGen ExAC gnomAD
rs1574771624 CA351369266	338	Y>D		No	ClinGen Ensembl
CA2214868 CA351369288 rs138851563	339	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214869 COSM3962661 rs759973631	340	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769985510 CA2214870	340	G>V		No	ClinGen ExAC TOPMed gnomAD
rs113759088 CA2214871	341	E>K		No	ClinGen ExAC gnomAD
CA2214872 rs533628149	343	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214873 rs369129557	344	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1465334973 CA351369431	345	L>R		No	ClinGen TOPMed
rs761832893 CA351369507	348	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2214875 rs761832893	348	A>T	Variant assessed as Somatic; 6.74e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA68218005 rs1012045823	350	L>F		No	ClinGen TOPMed
rs199865723 CA2214877	351	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2214905 rs754766152	351	G>V		No	ClinGen ExAC gnomAD
rs752327526 CA351370524	353	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs757993587 CA2214909	354	T>I		No	ClinGen ExAC gnomAD
rs777203675 CA2214910	355	G>A		No	ClinGen ExAC gnomAD
rs746524447 CA2214911	356	W>S		No	ClinGen ExAC gnomAD
rs780562257 CA2214913	357	L>P		No	ClinGen ExAC gnomAD
rs756619137 CA2214912	357	L>V		No	ClinGen ExAC gnomAD
RCV000893272 rs111978925 CA2214914	360	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1574773924 CA351370722	362	V>M		No	ClinGen Ensembl
CA68219491 rs777607786	364	G>A		No	ClinGen Ensembl
rs772337167 CA2214918	366	L>R		No	ClinGen ExAC TOPMed gnomAD
rs985159731 CA68219500	369	L>P		No	ClinGen gnomAD
rs1338015930 CA351370971	371	G>C		No	ClinGen TOPMed gnomAD
CA2214919 rs773209898	371	G>D		No	ClinGen ExAC TOPMed gnomAD
rs773209898 CA351370981	371	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	372	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351371021 rs1176495493	373	F>V		No	ClinGen TOPMed
rs776666409 CA2214923	374	L>P		No	ClinGen ExAC
CA351371133 rs1574774004	375	V>G		No	ClinGen Ensembl
rs759407382 CA2214924	376	F>S		No	ClinGen ExAC gnomAD
CA68219523 rs200591198	377	S>*		No	ClinGen TOPMed gnomAD
CA351371193 rs1482870367	379	I>V		No	ClinGen gnomAD
CA2214925 rs765063722	380	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762759821 CA2214927	381	T>A		No	ClinGen ExAC gnomAD
CA351371222 rs201322493	381	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201322493 CA2214928	381	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2214961 rs745909935	384	L>P		No	ClinGen ExAC gnomAD
rs745909935 CA351372035	384	L>Q		No	ClinGen ExAC gnomAD
rs1421729439 CA351372050 COSM350613	385	C>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA351372083 rs1459154327	386	G>D		No	ClinGen TOPMed
TCGA novel	390	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2214962 rs769900305	390	S>R		No	ClinGen ExAC gnomAD
rs147733698 CA2214964	392	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2214965 rs147733698	392	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs960325867 CA68222257	396	L>V		No	ClinGen Ensembl
CA351372323 rs145388383	397	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000883701 CA2214966 rs145388383	397	C>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	399	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351372364 rs765314336	399	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2214968 rs765314336	399	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2214969 rs201426636	401	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750676004 CA68222302	403	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2214972 rs137878201	408	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM2149463 CA2214971 rs137878201	408	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1316292140 CA351372632	410	A>D		No	ClinGen gnomAD
rs1559448043 CA351372625	410	A>T		No	ClinGen Ensembl
rs1215844410 CA351372650	412	A>G		No	ClinGen gnomAD
rs758700953 CA2214973	413	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2215001 rs377319686	414	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203035534 CA351373915	414	A>T		No	ClinGen TOPMed
CA2215003 rs772860631	415	G>C		No	ClinGen ExAC TOPMed gnomAD
CA68223964 rs772860631	415	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2215007 rs373704127	416	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2215006 rs776242853	416	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762282243 CA2215010	418	F>L		No	ClinGen ExAC TOPMed gnomAD
rs761020860 CA2215013	419	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2215012 rs202004656	419	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA68224027 rs868314690	420	H>N		No	ClinGen gnomAD
rs868314690 CA351374041	420	H>Y		No	ClinGen gnomAD
TCGA novel	421	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753977406 CA2215015	421	G>S		No	ClinGen ExAC TOPMed gnomAD
rs778919224 CA2215017	422	G>S		No	ClinGen ExAC TOPMed gnomAD
rs141888987 CA2215019	424	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172313804 CA351374120	425	F>Y		No	ClinGen gnomAD
COSM1579983 CA351374143 rs1460898097	426	F>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs746772503 CA351374285	430	M>L		No	ClinGen ExAC gnomAD
CA2215021 rs746772503	430	M>V		No	ClinGen ExAC gnomAD
rs1372622516 COSM1183047 CA351374322	431	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs927123726 CA68224061	431	A>V		No	ClinGen TOPMed gnomAD
CA2215022 rs770664964	432	L>P		No	ClinGen ExAC gnomAD
CA2215024 rs745414918	433	W>L		No	ClinGen ExAC gnomAD
CA351374399 rs1288219342	434	A>V		No	ClinGen gnomAD
CA2215027 rs4675982	435	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144537389 CA2215026	435	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144537389 CA2215025	435	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215028 rs772677511	439	E>G		No	ClinGen ExAC TOPMed gnomAD
rs147670958 CA2215029	440	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351374586 rs1188018579	442	K>N		No	ClinGen gnomAD
COSM1721491 CA2215031 rs766659233	443	R>Q	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2215030 rs142622065	443	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351374621 rs1396612944	444	K>R		No	ClinGen TOPMed gnomAD
rs1290297940 CA351374633	445	S>G		No	ClinGen gnomAD
rs1398400941 CA351374637	445	S>N		No	ClinGen gnomAD
CA2215033 rs759669755	446	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375996958 CA2215036	447	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777662566 CA2215039	451	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2215040 COSM1183044 rs751379602	451	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2215041 rs756964042	453	D>N		No	ClinGen ExAC gnomAD
CA351374797 rs1285102059 COSM2910399	454	C>S	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA351374906 rs1448947702	457	Y>H		No	ClinGen gnomAD
TCGA novel	458	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769482681 CA2215044	458	E>D		No	ClinGen ExAC gnomAD
rs745565247 CA2215043	458	E>K		No	ClinGen ExAC TOPMed gnomAD
CA351374933 rs745565247	458	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2215045 rs560693871	461	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs771468547 CA2215067	462	E>*		No	ClinGen ExAC TOPMed gnomAD
CA351375159 rs1391185901	462	E>V		No	ClinGen gnomAD
rs556451417 CA2215068	463	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA351375174 rs1266535990	463	R>K		No	ClinGen TOPMed
rs1438756228 CA351375201	464	P>R		No	ClinGen gnomAD
rs1207967967 CA351375191	464	P>T		No	ClinGen TOPMed
CA351375220 rs770027915	465	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770027915 CA2215070	465	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2215069 rs145157097	465	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	466	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351375249 rs1473140489	466	P>L		No	ClinGen TOPMed gnomAD
rs1337137136 CA351375258	467	Q>*		No	ClinGen gnomAD
CA351375255 rs1337137136	467	Q>E		No	ClinGen gnomAD
CA351375259 rs1195030014	467	Q>L		No	ClinGen gnomAD
CA2215073 rs764103852	469	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2215076 rs150809012	470	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150809012 CA2215075	470	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA68224356 rs887541003	470	A>V		No	ClinGen TOPMed gnomAD
CA351375461 rs1371000314	473	P>L		No	ClinGen gnomAD
rs755895471 CA2215078	473	P>T		No	ClinGen ExAC gnomAD
CA2215080 rs753479743	474	M>I		No	ClinGen ExAC gnomAD
CA351375477 rs766130793	474	M>K		No	ClinGen ExAC gnomAD
rs766130793 CA2215079	474	M>R		No	ClinGen ExAC gnomAD
rs1461757631 CA351375467	474	M>V		No	ClinGen gnomAD
CA2215081 rs371641952	475	T>R		No	ClinGen ESP ExAC gnomAD
rs778637626 CA2215082	476	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2215083 rs560238171	477	P>L		No	ClinGen ExAC TOPMed gnomAD
CA68224372 rs1010673297	478	N>T		No	ClinGen Ensembl
rs1293636972 CA351375651	479	P>L		No	ClinGen gnomAD
rs560439014 CA2215085	481	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA351375728 rs1251719865	482	G>S		No	ClinGen gnomAD
CA68224393 rs1022022853	484	D>E		No	ClinGen gnomAD
CA2215087 rs770079447	484	D>G		No	ClinGen ExAC TOPMed gnomAD
rs780268640 CA2215088 COSM1565634	485	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA351375871 rs1259184951	486	P>H		No	ClinGen gnomAD
CA351375870 rs1192453565	486	P>S		No	ClinGen gnomAD
CA2215090 rs749570957	487	Y>C		No	ClinGen ExAC gnomAD
rs768834500 CA2215091	489	P>L		No	ClinGen ExAC gnomAD
rs370163261 CA2215092	490	E>*		No	ClinGen ExAC TOPMed gnomAD
rs370163261 CA351375955	490	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2215093 rs542252950	491	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2215095 rs771932151	493	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771932151 CA351376023	493	R>G		No	ClinGen ExAC TOPMed gnomAD
rs374514857 CA2215096	493	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA351376031 rs374514857	493	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs182045324 CA2215098	494	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs57677160 CA2215099	494	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215101 rs375780942	495	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2215102 rs752172841	495	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757887974 CA2215103	496	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2215104 rs201707610	496	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201707610 CA2215105	496	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780436090 CA2215107	497	M>I		No	ClinGen ExAC TOPMed gnomAD
rs547711185 CA2215106	497	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1574781600 CA351376135	499	A>D		No	ClinGen Ensembl
CA2215108 rs749630171	499	A>T		No	ClinGen ExAC gnomAD
CA351376146 rs1156995249	500	G>D		No	ClinGen gnomAD
CA2215110 rs530027067	500	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363361434 CA351376163	501	S>C		No	ClinGen TOPMed gnomAD
rs1363361434 CA351376164	501	S>F	Variant assessed as Somatic; 5.565e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1290798946 CA351376187	502	V>A		No	ClinGen gnomAD
rs748178998 CA68224566	505	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748178998 CA2215112	505	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1355988820 CA351376261	506	V>E		No	ClinGen gnomAD
CA351376278 rs1230019770	507	M>I		No	ClinGen TOPMed gnomAD
CA351376950 rs1276895397	508	V>G		No	ClinGen gnomAD
rs1168106343 CA351376953	509	A>T		No	ClinGen TOPMed gnomAD
rs372859805 CA2215148	509	A>V		No	ClinGen ESP ExAC gnomAD
CA351376966 rs1257286718	510	V>M		No	ClinGen Ensembl
CA351376995 rs1195344527	512	V>F		No	ClinGen TOPMed gnomAD
rs1329683857 CA351377040	515	L>F		No	ClinGen TOPMed
rs377383184 CA351377053	516	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377383184 CA2215151	516	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA68225180 rs751784943	521	Y>H		No	ClinGen TOPMed gnomAD
rs758698808 CA2215153	522	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2215154 rs146662855	522	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351377171 rs146662855	522	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351377182 rs1308590430	523	A>T		No	ClinGen gnomAD
CA2215155 rs369550339	524	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351377260 rs867307902	526	A>P		No	ClinGen Ensembl
CA68225188 rs867307902	526	A>T		No	ClinGen Ensembl
CA2215157 COSM1018879 rs781293078	526	A>V	Variant assessed as Somatic; 9.251e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1474859527 CA351377280	527	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	528	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148053897 CA2215159	528	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA351377332 rs1418605481	529	V>A		No	ClinGen gnomAD
rs1172655910 CA351377353 COSM1531623	531	R>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1172655910 CA351377355	531	R>T		No	ClinGen TOPMed gnomAD
CA2215162 rs761766978	532	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2215163 rs761766978	532	S>W		No	ClinGen ExAC TOPMed gnomAD
rs765636410 CA2215168	535	T>I		No	ClinGen ExAC gnomAD
rs765636410 CA351377438	535	T>N		No	ClinGen ExAC gnomAD
TCGA novel	537	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1183043 CA2215170 rs758652317	538	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1336369282 CA351377538	540	W>*		No	ClinGen TOPMed
CA351377698 rs1240899050	542	S>P		No	ClinGen TOPMed
COSM720858 CA2215211 rs184837414	543	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2215210 rs184837414	543	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215212 COSM574387 rs570289436	543	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs566277967 CA2215215	545	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	546	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	547	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351377849 rs762345647	548	T>K		No	ClinGen ExAC TOPMed gnomAD
rs762345647 CA2215217	548	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1574783243 CA351377884	550	S>A		No	ClinGen Ensembl
rs1346810534 CA351377895	550	S>F		No	ClinGen gnomAD
rs1280602570 CA351377946	553	N>D		No	ClinGen gnomAD
rs201781892 CA2215220	553	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA351377951 rs1574783278	553	N>T		No	ClinGen Ensembl
rs777497729 CA2215222	554	L>F		No	ClinGen ExAC TOPMed gnomAD
rs149170904 CA2215224	555	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288128467 CA351378047	560	L>F		No	ClinGen TOPMed
rs959499644 CA68225474	561	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	562	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534689646 CA2215225	563	I>S		No	ClinGen 1000Genomes ExAC gnomAD
CA351378084 rs534689646	563	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs745350156 CA351378108	564	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1394945794 CA351378131	566	S>F		No	ClinGen gnomAD
rs774931122 CA2215229	568	A>T		No	ClinGen ExAC
rs1170061554 CA351378153	569	H>D		No	ClinGen TOPMed
CA68225525 rs999689625	569	H>R		No	ClinGen TOPMed gnomAD
CA2215231 COSM3407750 rs148576854	570	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs146605967 CA2215232	573	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760844278 CA351378213 COSM1614629	573	R>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760844278 CA2215233	573	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA351378220 rs1559450620	574	W>*		No	ClinGen Ensembl
CA351378228 rs1289750282	574	W>*		No	ClinGen TOPMed
CA2215235 rs766599972	574	W>G		No	ClinGen ExAC TOPMed gnomAD
CA2215234 rs766599972	574	W>R		No	ClinGen ExAC TOPMed gnomAD
CA2215265 rs755823718 CA2215264	576	M>I		No	ClinGen ExAC TOPMed gnomAD
CA351379061 rs1457677957	576	M>R		No	ClinGen TOPMed
CA351379055 rs1298630585	576	M>V		No	ClinGen TOPMed gnomAD
CA351379097 rs373437988	577	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000889546 CA2215267 rs111934267	578	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2215268 COSM1183041 rs778300142	578	R>H	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA351379133 rs1453580762	580	Q>*		No	ClinGen TOPMed gnomAD
CA351379135 rs1453580762	580	Q>E		No	ClinGen TOPMed gnomAD
CA351379172 rs1258540098	581	T>I		No	ClinGen TOPMed gnomAD
rs1258540098 CA351379167	581	T>N		No	ClinGen TOPMed gnomAD
CA2215271 rs771272277	583	F>L		No	ClinGen ExAC gnomAD
CA2215273 rs769973022	584	E>G		No	ClinGen ExAC gnomAD
CA2215272 rs746159335	584	E>K		No	ClinGen ExAC TOPMed gnomAD
CA68226798 rs746159335	584	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs768508762 CA2215276	586	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2215275 rs377058682	586	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA68226825 rs768508762	586	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1380560864 CA351379557	592	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA351379658 rs1420601822	595	Q>*		No	ClinGen TOPMed gnomAD
CA351379663 rs1248219325	595	Q>P		No	ClinGen TOPMed
COSM1406930 rs767413521 CA2215279	597	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750211448 CA2215280	598	N>S		No	ClinGen ExAC gnomAD
TCGA novel	599	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA68226843 rs565418517	600	Y>C		No	ClinGen gnomAD
CA351379774 rs1379846396	600	Y>H		No	ClinGen gnomAD
TCGA novel	600	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287730827 CA351379909	604	V>A		No	ClinGen gnomAD
COSM3407752 CA2215285 RCV000971489 rs111600763	604	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351379971 rs1313437044	606	I>M		No	ClinGen TOPMed gnomAD
rs1310224306 CA351379963	606	I>T		No	ClinGen TOPMed
CA2215288 rs370088568	608	F>I		No	ClinGen ESP ExAC gnomAD
rs138179358 CA2215290	609	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351380111 rs1559451674	611	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2215312 rs756405277	615	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1465661605 CA351380475	616	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351380452 rs1422867819	616	Y>H		No	ClinGen gnomAD
rs1391814068 CA351380488	617	P>T		No	ClinGen gnomAD
rs1213207023 CA351380591	621	H>Q		No	ClinGen gnomAD
rs749589834 CA351380618	624	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2215316 rs755124112	624	F>S		No	ClinGen ExAC gnomAD
CA2215315 rs749589834	624	F>V		No	ClinGen ExAC TOPMed gnomAD
CA2215317 rs779097306	625	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1310969414 CA351380640	625	G>R		No	ClinGen TOPMed
rs144795528 CA2215318 COSM1406931	627	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2215319 rs772162177	627	R>H		No	ClinGen ExAC TOPMed gnomAD
CA351380684 rs1420908239	628	N>S		No	ClinGen Ensembl
rs148425768 CA2215321	630	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215346 rs760554276	631	C>*		No	ClinGen ExAC TOPMed gnomAD
CA351381515 rs1574789145	631	C>R		No	ClinGen Ensembl
CA2215347 rs762465345	632	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2215348 rs139066448	632	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376199713 CA2215350	633	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210268889 CA351381592	635	G>V		No	ClinGen gnomAD
CA2215351 rs144209760	636	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200488021 CA2215353	638	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753024309 CA2215355	639	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1386481584 CA351381681	641	A>P		No	ClinGen TOPMed
rs751671704 CA2215358	642	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1478491184 CA351381750	645	L>P		No	ClinGen Ensembl
rs1177003276 CA351381754	646	V>I		No	ClinGen TOPMed gnomAD
CA351382316 rs757286409	647	I>M		No	ClinGen ExAC TOPMed gnomAD
rs975509475 CA68501775	648	M>V		No	ClinGen TOPMed gnomAD
CA351382479 rs1254853751	652	Q>*		No	ClinGen TOPMed
CA351382484 rs1427832847	652	Q>R		No	ClinGen gnomAD
CA2215362 rs549340590	653	V>F		No	ClinGen ExAC TOPMed gnomAD
rs549340590 CA351382501	653	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1215964617 CA351382575	655	N>K		No	ClinGen TOPMed
CA2215364 rs779886895	655	N>S		No	ClinGen ExAC gnomAD
CA351382588 rs1341837597	656	N>H		No	ClinGen TOPMed
TCGA novel	657	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238381860 CA351382650	657	M>T		No	ClinGen TOPMed gnomAD
rs748977773 CA2215365	657	M>V		No	ClinGen ExAC gnomAD
rs768273762 CA2215366	658	Q>*		No	ClinGen ExAC gnomAD
CA2215367 rs773871867	658	Q>P		No	ClinGen ExAC gnomAD
rs201975372 CA2215368 COSM137378	659	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs146974592 CA2215369	660	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1574789449 CA351382774	660	V>G		No	ClinGen Ensembl
rs146974592 CA351382751	660	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA68501799 rs955569499	663	P>L		No	ClinGen TOPMed gnomAD
CA2215388 rs376583417	664	K>R		No	ClinGen ExAC gnomAD
CA351383181 rs1304788820	665	L>V		No	ClinGen gnomAD
CA351383235 rs1239652492	667	G>R		No	ClinGen TOPMed
CA2215390 rs776023090	668	W>*		No	ClinGen ExAC gnomAD
rs763374562 CA2215391	668	W>*		No	ClinGen ExAC gnomAD
rs1327625507 CA351383314	669	W>*		No	ClinGen gnomAD
rs1242019419 CA351383333	669	W>*		No	ClinGen gnomAD
CA2215392 rs764415805	670	Q>*		No	ClinGen ExAC gnomAD
CA351383351 rs1225167721	670	Q>H		No	ClinGen gnomAD
rs1356673717 CA351383340	670	Q>P		No	ClinGen TOPMed gnomAD
rs762082989 CA2215395	672	F>L		No	ClinGen ExAC TOPMed gnomAD
CA68502311 rs1014203218	673	R>Q		No	ClinGen TOPMed gnomAD
CA2215397 COSM1018882 rs189777701	673	R>W	Variant assessed as Somatic; 9.251e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2215398 rs756026239	675	R>C		No	ClinGen ExAC TOPMed gnomAD
rs545708893 CA2215399	675	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs545708893 CA2215400	675	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2215402 rs199826604	676	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356899275 CA351383510	677	K>E		No	ClinGen TOPMed
CA351383537 rs758035370	677	K>N		No	ClinGen ExAC gnomAD
CA2215405 rs777199514	678	K>R		No	ClinGen ExAC TOPMed gnomAD
rs201912677 CA68502356	679	R>K		No	ClinGen 1000Genomes
rs746481738 CA2215406	680	K>E		No	ClinGen ExAC gnomAD
rs142717351 CA2215410	681	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2215408 rs142717351	681	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs770239303 CA2215407	681	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs142717351 COSM2910440 CA2215409	681	A>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1340695437 CA351383651	682	G>E		No	ClinGen gnomAD
rs1247633432 CA351383660	683	A>T		No	ClinGen gnomAD
CA2215412 rs761987652	683	A>V		No	ClinGen ExAC gnomAD
rs1416479878 CA351383697	685	A>T		No	ClinGen TOPMed
CA2215414 rs773195661	685	A>V		No	ClinGen ExAC gnomAD
CA2215415 rs760741066	687	A>P		No	ClinGen ExAC TOPMed gnomAD
rs973121607 CA68502411	687	A>V		No	ClinGen TOPMed
rs766312615 CA2215416	689	Q>K		No	ClinGen ExAC gnomAD
rs753827229 CA2215417	690	G>E		No	ClinGen ExAC
rs1446533321 CA351383826	691	P>S		No	ClinGen gnomAD
CA2215419 rs116085954	694	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351383904 rs1438816634	695	D>E		No	ClinGen gnomAD
CA2215420 rs752516742	695	D>H		No	ClinGen ExAC gnomAD
CA2215421 rs752516742	695	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752516742 CA68502448	695	D>Y		No	ClinGen ExAC gnomAD
rs1159081430 CA351383911	696	Y>H		No	ClinGen gnomAD
rs751039422 CA2215423	697	E>G		No	ClinGen ExAC gnomAD
rs1267738741 CA351383976	701	C>R		No	ClinGen TOPMed
CA2215424 rs756769650	701	C>W		No	ClinGen ExAC TOPMed gnomAD
CA2215425 rs780837117	702	E>D		No	ClinGen ExAC gnomAD
CA351384003 rs1328826104	703	G>D		No	ClinGen TOPMed gnomAD
CA351384007 rs1328826104	703	G>V		No	ClinGen TOPMed gnomAD
CA351384023 rs1241305781	705	F>L		No	ClinGen TOPMed gnomAD
rs779440215 CA351384057	707	E>G		No	ClinGen ExAC gnomAD
rs201320298 CA2215427	707	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215428 rs779440215	707	E>V		No	ClinGen ExAC gnomAD
rs1257120468 CA351384121	712	V>M		No	ClinGen gnomAD
CA2215461 rs749954045	714	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs377591638 CA351384906	716	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377591638 CA351384904	716	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2215462 rs377591638	716	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA351384918 rs1283448451	717	F>Y		No	ClinGen TOPMed
rs1053902284 CA68503549	720	I>T		No	ClinGen Ensembl
rs765789567 CA2215463	721	F>L		No	ClinGen ExAC gnomAD
rs970137788 CA68503552	722	V>L		No	ClinGen TOPMed gnomAD
CA351385002 rs1317450389	723	A>G		No	ClinGen gnomAD
CA351385005 rs1361277553	724	A>S		No	ClinGen gnomAD
CA68503556 rs539961365	725	C>Y		No	ClinGen 1000Genomes TOPMed
rs1217303508 CA351385062	728	A>E		No	ClinGen TOPMed gnomAD
CA68503562 rs890718439	728	A>T		No	ClinGen Ensembl
rs1217303508 CA351385066	728	A>V		No	ClinGen TOPMed gnomAD
rs757503851 CA2215468	730	L>F		No	ClinGen ExAC TOPMed gnomAD
CA351385113 rs1386742218	732	A>D		No	ClinGen TOPMed gnomAD
CA2215470 rs745962193	733	L>M		No	ClinGen ExAC gnomAD
CA351385124 rs1158475836	733	L>P		No	ClinGen gnomAD
rs961183595 CA351385129	734	L>F		No	ClinGen TOPMed gnomAD
rs961183595 CA68503603	734	L>V		No	ClinGen TOPMed gnomAD
CA68503604 rs1039693124	735	N>S		No	ClinGen Ensembl
CA351385169 rs1559455354	736	N>K		No	ClinGen Ensembl
rs1358595154 CA351385175	737	W>*		No	ClinGen gnomAD
rs1559455356 CA351385171	737	W>R		No	ClinGen Ensembl
CA351385193 rs1387656564	738	V>E		No	ClinGen TOPMed
rs573412130 CA2215473	739	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2215472 rs769974439	739	E>K		No	ClinGen ExAC
CA2215474 rs74804606	740	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768459147 CA2215475	740	I>T		No	ClinGen ExAC gnomAD
rs774311947 CA2215476	741	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774311947 CA351385227	741	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2215477 rs150141704	741	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774311947 CA351385225	741	R>S		No	ClinGen ExAC TOPMed gnomAD
rs767288420 CA2215478	742	L>M		No	ClinGen ExAC gnomAD
CA351385243 rs1441296469	742	L>W		No	ClinGen gnomAD
rs773052325 CA351385270	744	A>E		No	ClinGen ExAC gnomAD
rs773052325 CA2215479	744	A>G		No	ClinGen ExAC gnomAD
rs951071442 CA68503647	744	A>T		No	ClinGen gnomAD
rs144973313 CA2215482	745	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2215483 rs144973313	745	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2215486 rs148168957	746	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs367766413 CA68503659	746	K>R		No	ClinGen Ensembl
CA351385303 rs1425128989	747	F>L		No	ClinGen gnomAD
rs141919134 CA2215487	747	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446232755 CA351385313	748	V>A		No	ClinGen gnomAD
CA351385311 rs1398371851	748	V>F		No	ClinGen gnomAD
CA351385309 rs1398371851	748	V>I		No	ClinGen gnomAD
rs1336077259 CA351385317	749	C>G		No	ClinGen TOPMed gnomAD
rs1336077259 CA351385315	749	C>S		No	ClinGen TOPMed gnomAD
rs746159318 CA2215490	749	C>Y		No	ClinGen ExAC TOPMed
CA68503689 rs957908533	752	R>P		No	ClinGen TOPMed gnomAD
CA351385339 rs957908533	752	R>Q		No	ClinGen TOPMed gnomAD
rs756263486 CA2215492	752	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2215493 rs780233003	753	R>H		No	ClinGen ExAC gnomAD
rs749280890 CA2215494	754	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351385348 rs1559455481	754	P>S		No	ClinGen Ensembl
rs1197561580 CA351385354	755	V>E		No	ClinGen TOPMed gnomAD
rs1315539969 CA351385351	755	V>M		No	ClinGen TOPMed gnomAD
CA2215498 rs772055591	756	A>T		No	ClinGen ExAC gnomAD
rs1574794078 CA351385363	757	E>Q		No	ClinGen Ensembl
rs913992813 CA68503714	758	R>C		No	ClinGen TOPMed
rs145044702 CA2215499	758	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2215501 rs76832527	759	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351385384 rs1421500137	760	Q>R		No	ClinGen gnomAD
CA2215502 rs141288203	761	D>N		No	ClinGen ESP ExAC gnomAD
CA2215503 rs370758348	762	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs764676791 CA2215504	762	I>N		No	ClinGen ExAC gnomAD
CA351385395 rs370758348	762	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344803902 CA351385401	763	G>A		No	ClinGen gnomAD
rs752118682 CA2215505	763	G>R		No	ClinGen ExAC gnomAD
rs752118682 CA2215506	763	G>S		No	ClinGen ExAC gnomAD
rs1023673837 CA68503735	764	I>L		No	ClinGen TOPMed gnomAD
rs1304438556 CA351385408	764	I>M		No	ClinGen Ensembl
CA351385406 rs1337711390	764	I>T		No	ClinGen gnomAD
rs1023673837 CA351385403	764	I>V		No	ClinGen TOPMed gnomAD
CA351385419 rs1217170132	766	F>L		No	ClinGen TOPMed
CA351385424 rs1226106652	766	F>L		No	ClinGen gnomAD
CA2215509 rs756383987	767	H>R		No	ClinGen ExAC gnomAD
CA2215508 rs750767953	767	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA351385442 rs1284451586	769	L>P		No	ClinGen TOPMed
CA2215511 rs753963157	770	A>T		No	ClinGen ExAC gnomAD
CA351385447 rs1574794185	770	A>V		No	ClinGen Ensembl
rs755068745 CA2215512	771	G>D		No	ClinGen ExAC
rs527525797 CA2215513	772	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA68503792 rs527525797	772	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194057467 CA351385460	773	T>A		No	ClinGen gnomAD
CA351385463 rs1374993216	773	T>M		No	ClinGen gnomAD
rs1374993216 CA351385462	773	T>R		No	ClinGen gnomAD
rs1194057467 CA351385458	773	T>S		No	ClinGen gnomAD
CA2215514 rs748136615	774	H>Y		No	ClinGen ExAC gnomAD
rs200669883 CA351385479	776	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA351385480 rs200669883	776	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2215515 rs200669883	776	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335591871 CA351385488	778	I>V		No	ClinGen gnomAD
CA2215518 rs746738390	779	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2215517 rs746738390	779	S>G		No	ClinGen ExAC TOPMed gnomAD
rs776091786 CA351385500	780	N>D		No	ClinGen ExAC TOPMed gnomAD
rs776091786 CA2215519	780	N>H		No	ClinGen ExAC TOPMed gnomAD
rs765513953 CA2215554	782	F>S		No	ClinGen ExAC
rs758496576 CA351385545	785	A>D		No	ClinGen ExAC TOPMed
CA2215557 rs758496576	785	A>V		No	ClinGen ExAC TOPMed
rs757188668 CA2215560	786	F>S		No	ClinGen ExAC TOPMed gnomAD
CA2215559 rs751519402	786	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1252563677 CA351385557	787	S>W		No	ClinGen TOPMed gnomAD
CA2215561 rs371360764	789	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA68503994 rs527323541	789	D>V		No	ClinGen Ensembl
CA351385565 rs371360764	789	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs745631414 CA2215562	790	F>I		No	ClinGen ExAC gnomAD
CA2215564 rs779619224	792	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA351385585 rs1266445781	792	P>T		No	ClinGen gnomAD
TCGA novel	793	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351385592 rs768220413	793	R>L		No	ClinGen ExAC gnomAD
rs768220413 CA2215566	793	R>P		No	ClinGen ExAC gnomAD
CA351385588 rs1338349082	793	R>S		No	ClinGen TOPMed
CA351385598 rs1365931138	794	A>V		No	ClinGen TOPMed gnomAD
rs1284507373 CA351385605	795	Y>*		No	ClinGen TOPMed gnomAD
CA351385603 rs1404813913 COSM331316	795	Y>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	797	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776890700 CA351385616	797	R>P		No	ClinGen ExAC gnomAD
rs776890700 CA2215570	797	R>Q		No	ClinGen ExAC gnomAD
rs771419399 CA2215569	797	R>W		No	ClinGen ExAC TOPMed gnomAD
rs759910822 CA2215571	798	W>*		No	ClinGen ExAC gnomAD
rs765568873 CA2215572	798	W>*		No	ClinGen ExAC TOPMed gnomAD
CA351385626 rs1477748825	799	T>A		No	ClinGen TOPMed
rs775914484 CA2215574	800	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775914484 CA2215573	800	R>G		No	ClinGen ExAC TOPMed gnomAD
CA68504082 rs201093415	800	R>H		No	ClinGen 1000Genomes TOPMed
rs201093415 CA351385632	800	R>L		No	ClinGen 1000Genomes TOPMed
rs775914484 CA68504076	800	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2215575 rs764120273	801	A>D		No	ClinGen ExAC gnomAD
rs1489803117 CA351385635	801	A>T		No	ClinGen TOPMed gnomAD
CA351385637 rs764120273	801	A>V		No	ClinGen ExAC gnomAD
CA68504107 rs911167535	805	R>C		No	ClinGen TOPMed
CA351385661 rs1428670528	805	R>H		No	ClinGen TOPMed gnomAD
rs755849036 CA351385676	807	F>L		No	ClinGen ExAC TOPMed gnomAD
CA351385671 rs1315979252	807	F>L		No	ClinGen TOPMed
rs1436550440 CA351385673	807	F>Y		No	ClinGen TOPMed
CA351385688 rs1368060637	809	N>S		No	ClinGen gnomAD
rs1288435221 CA351385703	811	T>M		No	ClinGen gnomAD
rs1040380907 CA68504144	812	L>P		No	ClinGen TOPMed
CA2215586 rs368115427	813	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356960560 CA351385716	814	R>*		No	ClinGen gnomAD
rs746364805 CA2215589	815	A>P		No	ClinGen ExAC gnomAD
rs770351057 CA2215590	815	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2215592 rs763317329	816	P>R		No	ClinGen ExAC TOPMed gnomAD
CA351385725 rs1240951042	816	P>S		No	ClinGen gnomAD
rs768877796 CA2215593	817	S>F		No	ClinGen ExAC TOPMed gnomAD
CA351385729 rs1187863665	817	S>T		No	ClinGen TOPMed gnomAD
CA351385737 rs866026370	818	S>F		No	ClinGen TOPMed
CA2215594 rs774330420	818	S>T		No	ClinGen ExAC gnomAD
CA68504182 rs866026370	818	S>Y		No	ClinGen TOPMed
rs1331883091 CA351385740	819	F>V		No	ClinGen gnomAD
CA351385746 rs1399397982	820	A>T		No	ClinGen TOPMed gnomAD
rs371748155 CA2215597	821	A>P		No	ClinGen ESP TOPMed
CA2215596 rs371748155	821	A>T		No	ClinGen ESP TOPMed
CA351385759 rs1345816353	822	A>G		No	ClinGen gnomAD
CA351385756 rs1295454407	822	A>T		No	ClinGen gnomAD
rs1336581787 CA351385800	828	R>K		No	ClinGen TOPMed
rs146783718 CA2215618	829	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1574802897 CA351386918	829	Y>D		No	ClinGen Ensembl
rs1439703728 CA351386924	830	R>Q		No	ClinGen TOPMed gnomAD
rs772230874 CA2215619	830	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1574802935 CA351386934	832	F>L		No	ClinGen Ensembl
CA68507538 rs372303888	833	R>Q		No	ClinGen TOPMed gnomAD
rs372507979 CA2215621	833	R>W	Variant assessed as Somatic; 9.243e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs555678311 CA2215623	834	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA2215625 rs139272367	836	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2215626 rs752463217	837	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1574802976 CA351386979	837	G>R		No	ClinGen Ensembl
rs749083796 CA2215627	841	Q>*		No	ClinGen ExAC gnomAD
CA2215628 rs184483001	842	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1265843343 CA351387041	842	T>S		No	ClinGen TOPMed gnomAD
rs768506930 CA2215630	845	N>T		No	ClinGen ExAC TOPMed
rs756723413 COSM168225 CA2215631	846	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2215632 rs780645009	846	L>P		No	ClinGen ExAC gnomAD
rs1394542080 CA351387107	847	L>P		No	ClinGen gnomAD
TCGA novel	849	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351387128 rs1327861334	849	I>T		No	ClinGen gnomAD
CA2215633 rs749630068	849	I>V		No	ClinGen ExAC gnomAD
CA2215635 rs141614709	850	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs748448180 CA2215636	850	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773307206 CA2215638	852	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2215637 rs139614449	852	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773307206 CA68507606	852	A>V		No	ClinGen ExAC TOPMed gnomAD
rs537399613 CA2215640	854	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2215642 rs759386062	855	I>M		No	ClinGen ExAC TOPMed gnomAD
rs776607667 CA2215641	855	I>T		No	ClinGen ExAC gnomAD
rs947583424 CA68508175	860	V>M		No	ClinGen TOPMed gnomAD
rs143637006 CA2215697	861	V>F		No	ClinGen ESP TOPMed gnomAD
CA351387630 rs1161591278	862	F>S		No	ClinGen TOPMed
CA2215701 rs780182086	864	V>A		No	ClinGen ExAC TOPMed gnomAD
CA351387657 rs780182086	864	V>G		No	ClinGen ExAC TOPMed gnomAD
rs368164427 CA2215700	864	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA351387652 rs368164427	864	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768662010 CA2215703	866	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2215705 rs747882691	866	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768662010 CA2215704	866	R>S		No	ClinGen ExAC TOPMed gnomAD
CA351387677 rs1418500700	867	L>F		No	ClinGen gnomAD
rs1182796694 CA351387706	869	D>G		No	ClinGen gnomAD
TCGA novel	873	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	874	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2215707 rs772795788	874	D>N		No	ClinGen ExAC TOPMed gnomAD
rs376890842 CA2215708	876	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376890842 CA351387750	876	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs376890842 CA2215709	876	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351387763 rs1285845161	878	S>C		No	ClinGen TOPMed
rs776095339 CA2215711	879	V>M		No	ClinGen ExAC gnomAD
CA351387773 rs1392534524	880	E>A		No	ClinGen gnomAD
CA351387770 rs1396214212	880	E>K		No	ClinGen TOPMed gnomAD
CA351387788 rs1362276672	882	K>R		No	ClinGen TOPMed
CA2215713 rs764545838	885	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201390643 CA2215712 COSM1614633	885	R>W	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA2215715 rs151045440	886	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1205832970 CA351387834	889	L>V		No	ClinGen gnomAD
CA2215719 rs780050673	892	Q>*		No	ClinGen ExAC gnomAD
rs753926686 CA2215720	892	Q>R		No	ClinGen ExAC gnomAD
CA2215721 rs754967118	893	A>V		No	ClinGen ExAC gnomAD
CA2215723 rs139359171	894	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351387873 rs1430763671	896	E>*		No	ClinGen gnomAD
rs777591758 CA2215726	898	E>D		No	ClinGen ExAC
CA351387911 rs1416526832	899	V>A		No	ClinGen gnomAD
rs777056962 CA2215758	899	V>I		No	ClinGen ExAC gnomAD
TCGA novel	900	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574804218 CA351387917	900	L>R		No	ClinGen Ensembl
rs1021461390 CA68508600	900	L>V		No	ClinGen TOPMed
rs759798828 CA2215759	902	G>R		No	ClinGen ExAC gnomAD
rs765455537 CA2215760	903	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2215762 rs111682891	904	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215764 rs764025009	905	G>*		No	ClinGen ExAC TOPMed gnomAD
rs764025009 CA2215765 CA2215763	905	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1331472024 CA351387947	906	T>A		No	ClinGen TOPMed
CA2215766 rs780963487	909	E>K		No	ClinGen ExAC gnomAD
rs1284727800 CA351387977	910	Q>K		No	ClinGen TOPMed gnomAD
CA2215768 rs755744726	911	P>L		No	ClinGen ExAC gnomAD
rs7590653 CA351387989	912	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351387992 rs1260819800 CA351387993	912	E>D		No	ClinGen TOPMed gnomAD
rs7590653 VAR_065166 CA2215771	912	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7590653 CA351387988	912	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2215772 rs778399993	912	E>V		No	ClinGen ExAC gnomAD
CA351388004 rs1239729152	914	S>*		No	ClinGen gnomAD
CA351388005 rs1239729152	914	S>L		No	ClinGen gnomAD
TCGA novel	915	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs527799445 CA2215775	915	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536368776 CA2215802	918	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2215803 rs768822784	920	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2215804 rs774275553	920	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1300817151 CA351388052	920	W>R		No	ClinGen gnomAD
rs761765454 CA2215805	921	T>I		No	ClinGen ExAC gnomAD
CA351388063 rs767406598	922	P>A		No	ClinGen ExAC gnomAD
CA2215806 rs767406598	922	P>T		No	ClinGen ExAC gnomAD
CA68509086 rs1039472608	923	F>S		No	ClinGen TOPMed gnomAD
rs370010636 CA2215808	924	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370010636 CA351388079	924	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351388077 rs1378958788	924	T>S		No	ClinGen TOPMed
rs752213118 CA2215813	927	K>M		No	ClinGen ExAC gnomAD
rs764823592 CA2215812	927	K>Q		No	ClinGen ExAC gnomAD
rs1052818603 CA68509138	928	A>S		No	ClinGen TOPMed
CA351388104 rs1162394561	929	S>G		No	ClinGen gnomAD
rs563055493 CA68509154 COSM3839082 CA2215816	930	Q>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs181722382 CA2215817	931	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756569776 CA2215819	932	Q>K		No	ClinGen ExAC gnomAD
CA68509224 rs1043090527	933	Q>*		No	ClinGen TOPMed
CA2215821 rs367926970	933	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351388135 rs1362404258	934	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD

No associated diseases with Q6IWH7

1 regional properties for Q6IWH7

Type	Name	Position	InterPro Accession
domain	Anoctamin, dimerisation domain	108 - 332	IPR032394

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Multi-pass membrane protein Cell junction Endoplasmic reticulum	Concentrates at sites of cell-cell contact (PubMed:17308099) Shows an intracellular localization according to PubMed:22075693 and PubMed:20056604
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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).
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
chloride channel activity	Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
intracellular calcium activated chloride channel activity	Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.

5 GO annotations of biological process

Name	Definition
calcium activated phospholipid scrambling	The movement of a population of phospholipid molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet as a result of a calcium stimulus.
chloride transmembrane transport	The process in which chloride is transported across a membrane.
chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ion transmembrane transport	A process in which an ion is transported across a membrane.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NW15	ANO10	Anoctamin-10	Homo sapiens (Human)	PR
Q75V66	ANO5	Anoctamin-5	Homo sapiens (Human)	PR
A1A5B4	ANO9	Anoctamin-9	Homo sapiens (Human)	PR
Q9NQ90	ANO2	Anoctamin-2	Homo sapiens (Human)	PR
A2AHL1	Ano3	Anoctamin-3	Mus musculus (Mouse)	PR
Q8CFW1	Ano2	Anoctamin-2	Mus musculus (Mouse)	PR
Q14AT5	Ano7	Anoctamin-7	Mus musculus (Mouse)	PR
Q6IFT6	Ano7	Anoctamin-7	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRMAATAWAG	LQGPPLPTLC	PAVRTGLYCR	DQAHAERWAM	TSETSSGSHC	ARSRMLRRRA
70	80	90	100	110	120
QEEDSTVLID	VSPPEAEKRG	SYGSTAHASE	PGGQQAAACR	AGSPAKPRIA	DFVLVWEEDL
130	140	150	160	170	180
KLDRQQDSAA	RDRTDMHRTW	RETFLDNLRA	AGLCVDQQDV	QDGNTTVHYA	LLSASWAVLC
190	200	210	220	230	240
YYAEDLRLKL	PLQELPNQAS	NWSAGLLAWL	GIPNVLLEVV	PDVPPEYYSC	RFRVNKLPRF
250	260	270	280	290	300
LGSDNQDTFF	TSTKRHQILF	EILAKTPYGH	EKKNLLGIHQ	LLAEGVLSAA	FPLHDGPFKT
310	320	330	340	350	360
PPEGPQAPRL	NQRQVLFQHW	ARWGKWNKYQ	PLDHVRRYFG	EKVALYFAWL	GFYTGWLLPA
370	380	390	400	410	420
AVVGTLVFLV	GCFLVFSDIP	TQELCGSKDS	FEMCPLCLDC	PFWLLSSACA	LAQAGRLFDH
430	440	450	460	470	480
GGTVFFSLFM	ALWAVLLLEY	WKRKSATLAY	RWDCSDYEDT	EERPRPQFAA	SAPMTAPNPI
490	500	510	520	530	540
TGEDEPYFPE	RSRARRMLAG	SVVIVVMVAV	VVMCLVSIIL	YRAIMAIVVS	RSGNTLLAAW
550	560	570	580	590	600
ASRIASLTGS	VVNLVFILIL	SKIYVSLAHV	LTRWEMHRTQ	TKFEDAFTLK	VFIFQFVNFY
610	620	630	640	650	660
SSPVYIAFFK	GRFVGYPGNY	HTLFGVRNEE	CAAGGCLIEL	AQELLVIMVG	KQVINNMQEV
670	680	690	700	710	720
LIPKLKGWWQ	KFRLRSKKRK	AGASAGASQG	PWEDDYELVP	CEGLFDEYLE	MVLQFGFVTI
730	740	750	760	770	780
FVAACPLAPL	FALLNNWVEI	RLDARKFVCE	YRRPVAERAQ	DIGIWFHILA	GLTHLAVISN
790	800	810	820	830	840
AFLLAFSSDF	LPRAYYRWTR	AHDLRGFLNF	TLARAPSSFA	AAHNRTCRYR	AFRDDDGHYS
850	860	870	880	890	900
QTYWNLLAIR	LAFVIVFEHV	VFSVGRLLDL	LVPDIPESVE	IKVKREYYLA	KQALAENEVL
910	920	930
FGTNGTKDEQ	PEGSELSSHW	TPFTVPKASQ	LQQ