AiPD: Autoinhibited Protein Database

P78357

Gene name	CNTNAP1 (CASPR, NRXN4)
Protein name	Contactin-associated protein 1
Names	Caspr, Caspr1, Neurexin IV, Neurexin-4, p190
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8506
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1295-1384 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1295-1384 (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 P78357

Entry ID	Method	Resolution	Chain	Position	Source
AF-P78357-F1	Predicted				AlphaFoldDB

1031 variants for P78357

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1597802927 RCV000855460 CA399632041	23	Y>*	Fetal akinesia deformation sequence 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081766	50	P>Q	CHN3 [UniProt]	Yes	UniProt
RCV000722094 CA399634095 rs1567969825 VAR_081767	212	L>P	Neuropathy, congenital hypomyelinating, 3 CHN3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs768554986 RCV000722097 VAR_078818 CA8581660	323	C>R	Neuropathy, congenital hypomyelinating, 3 LCCS7 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_078819 CA8581722 RCV002529770 rs779027563 RCV000722099 RCV000626014	388	R>P	Lethal congenital contracture syndrome 7 Neuropathy, congenital hypomyelinating, 3 Inborn genetic diseases CHN3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001008751 RCV000496980 rs1555642784	521	L>missing	Lethal congenital contracture syndrome 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000722100 rs756896276 CA399641001	559	W>*	Neuropathy, congenital hypomyelinating, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_081768	559	W>del	CHN3 [UniProt]	Yes	UniProt
VAR_081769	621	R>del	CHN3 [UniProt]	Yes	UniProt
RCV000722098 COSM79154 CA290794827 rs878853221	623	W>*	ovary Variant assessed as Somatic; impact. Neuropathy, congenital hypomyelinating, 3 [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_078820	623	W>del	LCCS7 and CHN3 [UniProt]	Yes	UniProt
rs1597807901 RCV000855461 CA399642944	636	V>M	Fetal akinesia deformation sequence 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA399643353 RCV000722095 rs1567973088	671	Q>*	Neuropathy, congenital hypomyelinating, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078821	671	Q>del	CHN3 [UniProt]	Yes	UniProt
CA399643369 RCV001030776 rs1567973091 RCV000679953	672	W>*	Arthrogryposis, distal, type 1A Neuropathy, congenital hypomyelinating, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_078822	672	W>del	LCCS7 [UniProt]	Yes	UniProt
VAR_081770	714	R>P	CHN3 [UniProt]	Yes	UniProt
rs761805324 VAR_078823 RCV001862113 RCV000722096 CA8582012	764	R>C	Neuropathy, congenital hypomyelinating, 3 CHN3 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_081771	782	R>del	CHN3 [UniProt]	Yes	UniProt
rs746361190 CA8582053 RCV000256459	815	T>N	Lethal congenital contracture syndrome 7 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8582112 rs144659252 RCV000853286	890	R>*	Lethal congenital contracture syndrome 7 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_081772	896	W>del	CHN3 [UniProt]	Yes	UniProt
rs369859767 CA8582131 RCV000959413 RCV002547269	916	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001813766 rs751050956 RCV000186508 RCV000492827	968	C>missing	Lethal congenital contracture syndrome 7 Neuropathy, congenital hypomyelinating, 3 [ClinVar]	Yes	ClinVar dbSNP
rs758431189 RCV001333148 CA8582193	977	R>H	Lethal congenital contracture syndrome 7 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs786204799 RCV000169694	1004	E>*	Lethal congenital contracture syndrome 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000624422 CA8582285 rs150167601 RCV001360041	1114	D>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2053168326 RCV001334155	1221	L>missing	Lethal congenital contracture syndrome 7 [ClinVar]	Yes	ClinVar dbSNP
rs1160381531 CA399631837	3	H>Q		No	ClinGen TOPMed
CA8581389 rs751792020	3	H>R		No	ClinGen ExAC TOPMed gnomAD
rs911583692 CA290789202	4	L>F		No	ClinGen TOPMed gnomAD
CA8581390 rs757487161	5	R>W		No	ClinGen ExAC gnomAD
CA8581391 rs144595361	6	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480650183 CA399631864	7	F>L		No	ClinGen gnomAD
rs1176129288 CA399631874	7	F>L		No	ClinGen gnomAD
CA399631912 rs1384344844	12	A>S		No	ClinGen gnomAD
rs1435088226 CA399631919	13	A>S		No	ClinGen TOPMed
rs1435088226 CA399631922	13	A>T		No	ClinGen TOPMed
CA399631927 rs1265507214	13	A>V		No	ClinGen TOPMed
CA290789223 rs900215315	14	V>I		No	ClinGen TOPMed
rs537059106 CA290789234	17	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768968366 CA8581396	17	A>T		No	ClinGen ExAC gnomAD
rs537059106 CA8581397	17	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290789253 rs747808560	18	E>*		No	ClinGen ExAC gnomAD
CA8581399 rs771686167	18	E>D		No	ClinGen ExAC gnomAD
COSM94086 rs747808560 CA8581398	18	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399631993 rs1226995125	20	W>C		No	ClinGen gnomAD
CA8581400 rs772813642	20	W>G		No	ClinGen ExAC gnomAD
CA399632011 rs1203448010	22	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399632006 rs1307728562	22	Y>H		No	ClinGen gnomAD
rs746594808 CA8581421	24	G>R		No	ClinGen ExAC TOPMed gnomAD
CA399632047 rs1346131068	25	C>S		No	ClinGen gnomAD
CA399632055 rs1399802501	26	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399632056 rs1399802501	26	D>Y		No	ClinGen gnomAD
CA399632077 rs907646222 CA290789704	28	E>D		No	ClinGen TOPMed
rs776187677 CA399632083	30	V>L		No	ClinGen ExAC gnomAD
CA8581423 rs776187677	30	V>M		No	ClinGen ExAC gnomAD
CA8581424 rs759439280 COSM1679839	31	G>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399632121 rs1342318096	36	R>H		No	ClinGen gnomAD
CA399632132 rs1370685194	38	L>P		No	ClinGen TOPMed
rs1297151855 CA399632152	41	S>F		No	ClinGen TOPMed
rs190912496 CA8581425	42	S>C		No	ClinGen 1000Genomes ExAC
CA290789751 rs190912496	42	S>Y		No	ClinGen 1000Genomes ExAC
rs534684947 CA8581426	46	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA399632188 rs1214184635	47	L>F		No	ClinGen gnomAD
CA8581427 rs762862595	48	T>S		No	ClinGen ExAC gnomAD
CA290789760 rs940413470	49	A>E		No	ClinGen TOPMed gnomAD
rs1200500953 CA399632206	50	P>R		No	ClinGen gnomAD
rs2271029 CA399632208	51	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290789761 rs200318623	51	R>I		No	ClinGen gnomAD
rs750743028 CA8581429	54	R>G		No	ClinGen ExAC gnomAD
rs760965654 CA8581430	56	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	57	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780917967 CA8581459	58	I>V		No	ClinGen ExAC gnomAD
CA399632300 rs1258763618	61	W>*		No	ClinGen gnomAD
CA8581461 rs745452887	62	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	65	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399632365 rs1245544734	68	P>L		No	ClinGen gnomAD
CA399632360 rs1203824356	68	P>S		No	ClinGen TOPMed
rs1424694327 CA399632422	73	Q>H		No	ClinGen gnomAD
CA8581463 rs144497813	77	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA399632503 rs1367145833	80	H>Q		No	ClinGen gnomAD
TCGA novel	80	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	81	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581466 rs768684553	82	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8581465 rs768684553	82	I>V		No	ClinGen ExAC TOPMed gnomAD
CA290789863 rs530020899	83	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399632526 rs1398891828	83	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771709079 CA8581468	85	V>M		No	ClinGen ExAC gnomAD
rs1395176846 CA399632555	86	A>V		No	ClinGen gnomAD
rs776920122 CA8581469	89	G>D		No	ClinGen ExAC gnomAD
CA8581470 rs759670106	90	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8581471 rs765414012	91	F>C		No	ClinGen ExAC gnomAD
TCGA novel	92	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581472 rs775520960	97	V>F		No	ClinGen ExAC gnomAD
CA8581473 rs775520960	97	V>L		No	ClinGen ExAC gnomAD
rs1265482613 CA399632664	99	R>H		No	ClinGen gnomAD
CA399632672 rs1483858593	100	Y>F		No	ClinGen gnomAD
rs1254471031 CA399632685	102	L>V		No	ClinGen gnomAD
CA290789888 rs1019694046	104	Y>C		No	ClinGen Ensembl
CA8581477 rs767706478	105	G>C		No	ClinGen ExAC gnomAD
CA399632707 rs767706478	105	G>S		No	ClinGen ExAC gnomAD
rs1597803258 CA399632740	108	V>G		No	ClinGen Ensembl
rs1177981180 CA399632758	110	S>C		No	ClinGen gnomAD
CA399632765 rs1297637562	110	S>R		No	ClinGen TOPMed
CA8581480 rs779751302	113	P>Q		No	ClinGen ExAC gnomAD
CA8581481 rs748839835	115	Y>H		No	ClinGen ExAC gnomAD
CA399632837 rs1380320887	117	R>Q		No	ClinGen TOPMed
rs754492275 CA8581482	118	G>E		No	ClinGen ExAC gnomAD
rs779011841 CA8581483	119	H>R		No	ClinGen ExAC gnomAD
rs375684503 CA290789906	121	S>L		No	ClinGen ESP TOPMed
rs1188966406 CA399633464	124	F>S		No	ClinGen gnomAD
rs1252123409 CA399633468	125	G>S		No	ClinGen gnomAD
CA399633480 rs1440234545 COSM1683100	126	N>K	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399633484 rs1298303462 COSM3691582	127	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA399633496 rs777661253	129	E>*		No	ClinGen ExAC gnomAD
rs35789615 CA290790200	129	E>D		No	ClinGen gnomAD
CA8581504 rs777661253 COSM1201691	129	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA399633497 rs777661253	129	E>Q		No	ClinGen ExAC gnomAD
rs746807793 CA8581505	130	S>*		No	ClinGen ExAC
rs780266386 CA8581507	131	A>E		No	ClinGen ExAC TOPMed gnomAD
rs562221422 CA8581506	131	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs780266386 CA399633510	131	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1597803731 CA399633516	132	V>G		No	ClinGen Ensembl
rs1291842015 CA399633513	132	V>M		No	ClinGen gnomAD
rs1597803743 CA399633522	133	V>G		No	ClinGen Ensembl
CA290790234 rs533198017	134	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399633524 rs1309204428	134	R>H	Variant assessed as Somatic; 5.156e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8581508 rs533198017	134	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290075200 CA399633539	136	D>A		No	ClinGen gnomAD
rs762423623 CA8581511	136	D>E		No	ClinGen ExAC gnomAD
rs1290075200 CA399633537	136	D>G		No	ClinGen gnomAD
CA8581510 rs774273492	136	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774273492 CA399633536	136	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8581512 rs772489018	137	L>V		No	ClinGen ExAC gnomAD
rs1457860702 CA399633545	138	H>N		No	ClinGen gnomAD
rs1597803781 CA399633550	138	H>P		No	ClinGen Ensembl
CA8581514 rs760963094	138	H>Q		No	ClinGen ExAC gnomAD
rs766786493 CA8581515	139	F>C		No	ClinGen ExAC TOPMed gnomAD
CA399633553 rs1236316996	139	F>L		No	ClinGen gnomAD
CA290790257 rs766786493	139	F>S		No	ClinGen ExAC TOPMed gnomAD
rs766786493 CA399633555	139	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs897760189 CA399633564	140	H>Q		No	ClinGen gnomAD
rs1412868280 CA399633561	140	H>R		No	ClinGen gnomAD
rs753616521 CA8581516	140	H>Y		No	ClinGen ExAC gnomAD
rs1162994444 CA399633571	141	F>L		No	ClinGen gnomAD
TCGA novel	141	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290790268 rs147205771	143	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA399633579 rs1408964313	143	A>T		No	ClinGen TOPMed
COSM1383418 CA8581517 rs147205771	143	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1331190812 CA399633588	144	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	147	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285153375 CA399633611	148	I>F		No	ClinGen TOPMed gnomAD
rs1285153375 CA399633612	148	I>V		No	ClinGen TOPMed gnomAD
CA8581519 rs752115279	149	V>L		No	ClinGen ExAC gnomAD
CA399633617 rs752115279	149	V>M		No	ClinGen ExAC gnomAD
rs1015872910 CA290790274	150	P>S		No	ClinGen TOPMed
CA8581520 rs757882183	151	L>R		No	ClinGen ExAC gnomAD
CA399633631 rs1317948022	152	A>T		No	ClinGen gnomAD
CA399633636 rs1197462882	152	A>V		No	ClinGen gnomAD
rs745943872 CA290790276	153	W>*		No	ClinGen Ensembl
CA8581521 rs777593216	155	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	156	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938630556 CA399633670	158	K>E		No	ClinGen gnomAD
CA399633675 rs1210813489	158	K>N		No	ClinGen gnomAD
CA290790289 rs938630556	158	K>Q		No	ClinGen gnomAD
CA290790292 rs757050594	163	L>I		No	ClinGen ExAC TOPMed gnomAD
rs757050594 CA8581523	163	L>V		No	ClinGen ExAC TOPMed gnomAD
CA399633706 rs1224977819	164	G>S		No	ClinGen TOPMed
CA399633729 rs1421664300	167	G>D		No	ClinGen gnomAD
CA8581528 rs551276110	168	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1358895876 CA399633743	169	P>L		No	ClinGen gnomAD
CA290790306 rs972299600	169	P>S		No	ClinGen TOPMed
CA8581530 rs760660292	171	K>T		No	ClinGen ExAC
rs566767746 CA8581552	172	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA8581553 rs566767746	172	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs770136038 CA8581554	173	D>E		No	ClinGen ExAC gnomAD
rs775008173 CA8581555	174	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399633786 rs1181097352	174	I>T		No	ClinGen gnomAD
rs948775492 CA290790407	175	L>H		No	ClinGen TOPMed
rs762662790 CA8581556	175	L>V		No	ClinGen ExAC gnomAD
CA290790440 COSM706286 rs1028565981	179	G>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1223577124 CA399633822	180	D>N		No	ClinGen TOPMed
CA399633851 rs1328895115	184	S>T		No	ClinGen gnomAD
rs1448878479 CA399633861	185	Y>C		No	ClinGen gnomAD
TCGA novel	186	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281226815 CA399633868	186	R>H		No	ClinGen TOPMed
CA8581560 rs767466032	188	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399633888 rs1358716939	189	R>L		No	ClinGen TOPMed gnomAD
CA399633886 rs1358716939	189	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399633899 rs1597804040	191	V>G		No	ClinGen Ensembl
CA8581563 rs766195304	191	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	193	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388157342 CA399633912	193	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA399633941 rs1239325817	197	D>E		No	ClinGen gnomAD
rs1177146653 CA399633946	198	V>E		No	ClinGen gnomAD
CA399633945 rs1439410296	198	V>L		No	ClinGen gnomAD
rs777750878 CA8581567	199	F>I		No	ClinGen ExAC gnomAD
rs561659603 CA8581569	199	F>L		No	ClinGen ExAC gnomAD
CA8581571 rs746309332	210	G>S		No	ClinGen ExAC gnomAD
rs1052794932 CA290790550	211	L>V		No	ClinGen TOPMed
CA8581574 COSM1248645 rs748941568	214	H>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768387220 CA8581576	214	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA290790563 rs892358714	215	A>S		No	ClinGen TOPMed gnomAD
rs1283843197 COSM460327 CA399634121	216	E>K	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1332713267 CA399634160	219	Q>H		No	ClinGen gnomAD
rs761328167 CA8581577	221	D>N		No	ClinGen ExAC gnomAD
rs371406732 CA290790571	223	V>L		No	ClinGen ESP TOPMed gnomAD
CA290790573 rs371406732	223	V>M		No	ClinGen ESP TOPMed gnomAD
rs760650248 CA8581580	226	E>A		No	ClinGen ExAC gnomAD
rs547038534 CA8581581	229	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	240	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	241	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581609 rs756098225	241	S>R		No	ClinGen ExAC TOPMed gnomAD
CA399634647 rs1192417814	243	I>V		No	ClinGen gnomAD
rs865820745 CA290790943	245	P>S		No	ClinGen gnomAD
rs754233759 CA8581611	247	P>T		No	ClinGen ExAC gnomAD
CA399634764 rs1420116161	248	G>D		No	ClinGen gnomAD
rs755403805 CA8581612	250	T>I		No	ClinGen ExAC gnomAD
CA399634801 rs755403805	250	T>S		No	ClinGen ExAC gnomAD
CA399634858 rs1366920571	253	S>C		No	ClinGen TOPMed
rs1318052346 CA399634871	253	S>R		No	ClinGen TOPMed
CA290790963 rs1049892466	254	A>T		No	ClinGen TOPMed gnomAD
CA399634907 rs1177927699	255	G>S		No	ClinGen TOPMed
CA8581616 rs545191038	258	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8581617 rs746547089	259	N>D		No	ClinGen ExAC gnomAD
CA8581618 rs770286337	259	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8581619 rs776632940	261	Q>R		No	ClinGen ExAC gnomAD
CA8581620 rs373476917	262	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs769767609 CA8581621	265	Y>C		No	ClinGen ExAC gnomAD
CA399635160 rs1265494349	266	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	266	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290790990 rs373203275	266	V>M		No	ClinGen gnomAD
CA8581623 rs762165875	267	R>W		No	ClinGen ExAC gnomAD
rs1188116244 CA399635205	269	D>E		No	ClinGen TOPMed
TCGA novel	270	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581624 rs767875480	270	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8581625 rs773250909	272	G>S		No	ClinGen ExAC gnomAD
rs1461856215 CA399635250	273	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	275	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760814838 CA8581626	275	V>I		No	ClinGen ExAC gnomAD
TCGA novel	276	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399635327 rs1442413701	277	F>L		No	ClinGen TOPMed
rs1597804663 CA399635324	277	F>S		No	ClinGen Ensembl
rs377261961 CA290791041	278	T>I		No	ClinGen Ensembl
CA399635347 rs1567970220	279	L>V		No	ClinGen Ensembl
rs922624124 CA290791045	280	D>E		No	ClinGen TOPMed gnomAD
CA399635383 rs1340417620	281	G>R		No	ClinGen TOPMed
rs1294987054 CA399635391	281	G>V		No	ClinGen TOPMed
CA290791048 rs560060977	282	Y>C		No	ClinGen 1000Genomes TOPMed
CA8581628 rs754429609	284	Q>*		No	ClinGen ExAC gnomAD
CA8581629 rs527466366	284	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1448255142 CA399635483	285	R>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8581631 rs753095573	289	N>S		No	ClinGen ExAC gnomAD
CA290791067 rs1051701748	290	G>A		No	ClinGen TOPMed gnomAD
CA8581632 rs758709669	292	F>L		No	ClinGen ExAC TOPMed gnomAD
CA399635656 rs1230939534	293	E>Q		No	ClinGen gnomAD
rs1423800236 CA399635669	294	R>W		No	ClinGen gnomAD
CA290791084 rs910448156	296	N>K		No	ClinGen TOPMed
rs139692372 CA399635768	297	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139692372 CA8581633	297	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581634 rs74967402	299	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399636955 rs765759640	303	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	303	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315392585 CA399637002	306	L>P		No	ClinGen gnomAD
CA8581651 rs758762996	307	V>A		No	ClinGen ExAC gnomAD
rs751281750 CA8581653	310	A>E		No	ClinGen ExAC gnomAD
CA8581654 rs751281750	310	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM3819658 CA8581655 rs780793360	311	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399637081 rs1597805432	313	N>T		No	ClinGen Ensembl
CA8581656 rs745401594	317	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1340550337 CA399637175	320	F>S		No	ClinGen gnomAD
COSM1521504 CA8581658 rs780146066	321	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399637194 rs780146066	321	R>P		No	ClinGen ExAC TOPMed gnomAD
CA399637203 rs1219808261	322	G>D		No	ClinGen gnomAD
CA399637200 rs1029584700	322	G>R		No	ClinGen gnomAD
rs1029584700 CA290792659	322	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1351769649 CA399637216	323	C>Y		No	ClinGen TOPMed
rs773997395 CA399637222	324	I>L		No	ClinGen ExAC gnomAD
CA8581662 rs747297931	324	I>T		No	ClinGen ExAC gnomAD
rs773997395 CA8581661	324	I>V		No	ClinGen ExAC gnomAD
rs771093781 CA399637230	325	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8581663 rs771093781	325	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1192548186 CA399637245	327	V>E		No	ClinGen gnomAD
CA290792671 rs955448292	331	R>G		No	ClinGen Ensembl
CA8581665 rs759621490	331	R>H		No	ClinGen ExAC TOPMed gnomAD
CA399637282 rs1192331111	332	V>F		No	ClinGen TOPMed gnomAD
rs1192331111 CA399637280	332	V>L		No	ClinGen TOPMed gnomAD
rs769795430 CA8581666	333	N>S		No	ClinGen ExAC gnomAD
rs776040139 CA8581667	335	A>T		No	ClinGen ExAC
rs866425883 CA290792685	338	A>V		No	ClinGen Ensembl
rs763434256 CA8581668	339	V>M		No	ClinGen ExAC gnomAD
rs1399812566 CA399637358	340	R>P		No	ClinGen gnomAD
CA290792702 rs962698963	340	R>W	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764567288 CA8581669	341	R>C		No	ClinGen ExAC gnomAD
rs762196959 CA8581671	343	S>F		No	ClinGen ExAC TOPMed gnomAD
rs566950806 CA8581673	344	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs755752393 CA8581674	346	T>I		No	ClinGen ExAC gnomAD
CA290792710 TCGA novel rs779699947	347	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA399637545 rs1209086841	351	V>A		No	ClinGen TOPMed
CA399637579 COSM1383421 rs1342471394	354	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs758354832 CA290793005	356	L>V		No	ClinGen TOPMed gnomAD
rs1332830712 CA399637609	357	D>A		No	ClinGen TOPMed gnomAD
rs1597805971 CA399637637	359	V>G		No	ClinGen Ensembl
TCGA novel	359	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748674756 CA8581707	360	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8581706 rs748674756	360	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs145754857 CA8581708	361	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs367731422 CA8581709	362	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs2053035860 RCV001090848	363	I>V		No	ClinVar dbSNP
rs1314567822 CA399637702	365	F>L		No	ClinGen TOPMed
rs371717693 CA8581711	368	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581712 rs758968614	369	H>Y		No	ClinGen ExAC gnomAD
CA8581713 rs764803147	370	N>D		No	ClinGen ExAC gnomAD
rs1025289657 CA290793037	371	F>L		No	ClinGen Ensembl
rs879724262 CA290793039	372	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs886762756 CA290793045	373	Q>R		No	ClinGen Ensembl
rs975592102 CA290793051	378	P>T		No	ClinGen TOPMed
rs375309204 CA8581715	379	R>H	Variant assessed as Somatic; 0.0005544 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA399637825 rs1193724286	379	R>S		No	ClinGen gnomAD
COSM94087 CA8581716 rs763919892	380	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8581719 rs780268591	385	V>L		No	ClinGen ExAC gnomAD
rs755070825 CA290793075	388	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755070825 CA8581721	388	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	390	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239713897 CA399637989	393	D>G		No	ClinGen TOPMed
CA399637985 rs1209653208	393	D>Y		No	ClinGen gnomAD
rs1597806044 CA399637999	394	L>F		No	ClinGen Ensembl
rs1205189131 CA399638026	396	G>A		No	ClinGen gnomAD
CA399638038 rs1426630572	398	L>F		No	ClinGen TOPMed gnomAD
CA399638039 rs1426630572 COSM94088	398	L>V	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA290793086 rs866867433	401	S>T		No	ClinGen Ensembl
CA399638081 COSM319548 rs372495374	402	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372495374 CA8581729	402	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399638086 rs1453580235	402	R>L		No	ClinGen gnomAD
CA399638087 rs1213475000	403	L>V		No	ClinGen TOPMed
rs1373856191 CA399638101	404	G>A		No	ClinGen gnomAD
rs958251710 CA290793096	405	D>E		No	ClinGen Ensembl
CA399638118 rs1295028420 CA399638116	406	G>R		No	ClinGen TOPMed
rs1384415458 CA399638133	408	G>R		No	ClinGen gnomAD
rs775036363 COSM1383422 CA8581732	410	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8581734 rs762411932	414	L>I		No	ClinGen ExAC gnomAD
CA399638258 rs1241364565	416	E>D		No	ClinGen TOPMed gnomAD
CA290793125 rs988372472	416	E>K		No	ClinGen TOPMed
rs757050651 CA8581737	418	Q>*		No	ClinGen ExAC gnomAD
CA399638328 rs1355399251	421	V>M		No	ClinGen gnomAD
rs767286162 CA8581738	422	S>F		No	ClinGen ExAC gnomAD
CA399638381 rs1259605373	423	I>T		No	ClinGen gnomAD
TCGA novel	424	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290793144 rs754056108	427	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8581739 rs754056108	427	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8581740 rs754056108	427	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA16607242 RCV000428036 rs778961637	428	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs868749538 COSM979581 CA290793154	428	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA399638514 rs1253563877	432	Q>K		No	ClinGen gnomAD
CA8581742 rs748280197	432	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA290793164 rs370338317	434	A>T		No	ClinGen ESP TOPMed gnomAD
CA399638602 rs1421087465	436	G>R		No	ClinGen gnomAD
CA399638716 rs1397460793	437	Y>C		No	ClinGen gnomAD
CA399638714 rs1370721322	437	Y>D		No	ClinGen gnomAD
COSM1383423 rs781513422 CA8581766	438	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399638723 rs746268826	438	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8581767 rs746268826	438	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1476117309 CA399638728	439	L>M		No	ClinGen TOPMed
CA399638794 rs1243893038	442	G>S		No	ClinGen Ensembl
TCGA novel	443	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203537396 COSM1750055 CA399638850	446	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399638872 rs1597806451	447	V>G		No	ClinGen Ensembl
rs1017635206 CA290793389	448	N>H		No	ClinGen Ensembl
CA399638889 rs1249467076	449	F>C		No	ClinGen gnomAD
rs200047984 CA290793393	451	A>E		No	ClinGen Ensembl
CA399638923 rs1217173581	452	Q>*		No	ClinGen gnomAD
CA399638931 rs1479761540	452	Q>H		No	ClinGen gnomAD
CA399638934 rs1190390855	453	E>K		No	ClinGen gnomAD
rs769642792 CA290793395	454	N>I		No	ClinGen ExAC TOPMed gnomAD
rs769642792 CA8581770	454	N>T		No	ClinGen ExAC TOPMed gnomAD
CA399638963 rs1438676184	455	H>N		No	ClinGen TOPMed
rs1474938542 CA399638974	456	A>T		No	ClinGen TOPMed gnomAD
CA8581771 rs768204081	457	V>I		No	ClinGen ExAC gnomAD
CA8581772 rs773818742	458	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	459	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581773 rs761271132	462	D>V		No	ClinGen ExAC TOPMed gnomAD
CA8581776 rs772962703	468	V>I		No	ClinGen ExAC gnomAD
CA399639083 rs1293134049	469	R>T		No	ClinGen TOPMed
rs760521187 CA8581777	471	S>L		No	ClinGen ExAC gnomAD
rs146616808 CA8581778	473	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581780 rs763174357	473	P>L		No	ClinGen ExAC TOPMed gnomAD
rs146616808 CA8581779	473	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581781 rs764313512	477	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs141390466 CA290793410 COSM979582	477	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs751722877 CA8581782	479	G>V		No	ClinGen ExAC gnomAD
rs757238217 CA8581783	480	T>A		No	ClinGen ExAC gnomAD
COSM243764 CA399639206 rs1213239725	481	S>P	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399639240 rs1281313776	483	F>L		No	ClinGen gnomAD
CA399639250 rs1392191065	484	F>S		No	ClinGen TOPMed
TCGA novel	486	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159964348 CA399639616	488	P>L		No	ClinGen gnomAD
CA399639638 rs1597806684	490	P>L		No	ClinGen Ensembl
rs994762482 CA290793629	493	R>*		No	ClinGen TOPMed gnomAD
CA8581807 rs145175049	493	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581806 rs145175049	493	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755276777 CA8581808	495	D>E		No	ClinGen ExAC TOPMed gnomAD
rs970939396 CA290793647	497	H>Y		No	ClinGen TOPMed gnomAD
CA8581809 rs200093295	500	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs148181656 CA290793661	501	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA8581811 rs373250430	503	F>L		No	ClinGen ESP ExAC gnomAD
CA8581812 rs777121666	505	G>S		No	ClinGen ExAC gnomAD
CA399639837 CA399639841 rs1337550919	507	M>I		No	ClinGen TOPMed gnomAD
rs926724591 CA290793671	510	L>F		No	ClinGen TOPMed gnomAD
rs926724591 CA399639868	510	L>V		No	ClinGen TOPMed gnomAD
rs1567972134 CA399639882	511	K>E		No	ClinGen Ensembl
CA399639967 rs1183452114	515	Q>E		No	ClinGen gnomAD
CA399639987 rs141155776	515	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581816 rs745674741	517	V>A		No	ClinGen ExAC gnomAD
rs1419451378 CA399640053	519	L>V		No	ClinGen gnomAD
CA290793704 rs536861096	521	L>P		No	ClinGen 1000Genomes gnomAD
CA8581817 rs376238535	521	L>V		No	ClinGen ESP ExAC gnomAD
VAR_050267 CA8581818 rs35437096	522	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761928090 CA8581819	523	E>A		No	ClinGen ExAC gnomAD
rs1567972168 CA399640127	523	E>K		No	ClinGen Ensembl
CA399640159 rs370604328	525	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581821 rs773195711	525	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370604328 CA8581820	525	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000898472 CA8581823 rs137982413	526	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA399640170 rs760759398	526	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399640230 rs1234396329	530	Y>C		No	ClinGen gnomAD
rs1273116283 CA399640300	534	L>I		No	ClinGen gnomAD
rs754273796 CA8581824	537	T>I		No	ClinGen ExAC gnomAD
CA290793715 rs765569295	539	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM979583 rs755399682 CA8581825	539	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8581826 rs765569295	539	G>V		No	ClinGen ExAC TOPMed gnomAD
CA399640598 rs1397106232	544	C>*		No	ClinGen gnomAD
rs1223521520 CA399640725	548	M>R		No	ClinGen TOPMed gnomAD
rs1262146130	548	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8581844 rs143557763	548	M>V		No	ClinGen ESP ExAC TOPMed
rs1232601213 CA399640833	552	D>G		No	ClinGen TOPMed
rs377444768 CA8581846	554	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377444768 CA399640868	554	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA399640872 rs1400184247	554	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8581847 rs763669672	555	C>R		No	ClinGen ExAC gnomAD
rs1298329848 CA399640935	556	Y>*		No	ClinGen TOPMed
TCGA novel	556	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751161142 CA8581848	558	S>C		No	ClinGen ExAC gnomAD
rs756896276 CA8581849	559	W>C		No	ClinGen ExAC TOPMed gnomAD
rs780839001 CA8581851	563	I>F		No	ClinGen ExAC TOPMed gnomAD
rs780839001 CA8581850	563	I>L		No	ClinGen ExAC TOPMed gnomAD
rs779992820 CA399641156	567	E>*		No	ClinGen ExAC TOPMed gnomAD
rs779992820 CA8581853	567	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749050042 CA8581854	568	L>P		No	ClinGen ExAC TOPMed gnomAD
CA399641194 rs749050042	568	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA8581855 rs200736746	569	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581857 rs747215649	570	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1597807062 CA399641257	571	Y>*		No	ClinGen Ensembl
rs1463535667 CA399641281	572	K>N		No	ClinGen gnomAD
CA399641307 rs1422663613	573	G>E		No	ClinGen TOPMed
CA399641340 rs1195262755 COSM979584	574	E>D	endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8581859 rs776656858	575	T>I		No	ClinGen ExAC gnomAD
CA8581858 rs771044194	575	T>P		No	ClinGen ExAC gnomAD
CA8581860 rs759576346	576	C>W		No	ClinGen ExAC gnomAD
rs770312444 CA399641431	579	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8581861 rs770312444	579	P>S		No	ClinGen ExAC TOPMed gnomAD
CA399641670 rs1252893119	580	L>W		No	ClinGen gnomAD
CA8581881 rs768951645	585	C>Y		No	ClinGen ExAC gnomAD
CA399641909 rs1341773315	587	A>V		No	ClinGen gnomAD
CA8581884 rs147189145	589	R>Q		No	ClinGen ESP ExAC gnomAD
CA8581882 rs115595331	589	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399642007 rs760327746	591	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765899422 CA8581887	594	T>A		No	ClinGen ExAC gnomAD
rs984893952 CA290794455	597	N>S		No	ClinGen Ensembl
CA399642178 rs1356694509	598	F>L		No	ClinGen gnomAD
CA8581890 rs765042177	602	P>T		No	ClinGen ExAC gnomAD
CA399642397 rs1416075211	605	S>N		No	ClinGen gnomAD
rs908019467 CA290794469	607	P>S		No	ClinGen Ensembl
rs752514887 CA8581891	609	K>E		No	ClinGen ExAC gnomAD
rs758134032 CA8581892	614	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA399642530 rs758134032	614	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs375307262 CA8581894	618	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs138846121 CA8581895	619	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758918681 CA8581909	620	N>S		No	ClinGen ExAC TOPMed gnomAD
rs201009923 CA290794802	621	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201009923 CA8581911	621	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399642781 rs762805981	622	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8581912 rs762805981	622	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8581913 rs564211340	625	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8581914 rs147433219	627	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA290794830 rs1028647207	627	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1372942259 CA399642869	629	D>N		No	ClinGen gnomAD
rs1034847479 CA290794839	635	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs780100870 CA8581916	635	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780100870 CA8581917	635	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs754944509 CA8581918	637	T>I		No	ClinGen ExAC TOPMed gnomAD
CA290794844 rs1005967012	638	G>V		No	ClinGen Ensembl
rs1366914876 CA399642977	639	S>F		No	ClinGen TOPMed
CA8581919 rs148491713	640	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA399642991 rs1567973025	640	S>R		No	ClinGen Ensembl
CA8581920 rs748651876	641	M>T		No	ClinGen ExAC gnomAD
rs200460212 CA399643007	642	E>K		No	ClinGen 1000Genomes TOPMed
CA290794871 rs200460212	642	E>Q		No	ClinGen 1000Genomes TOPMed
CA8581922 rs202120747	643	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772613961 CA8581921	643	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	645	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290794878 rs968142464	646	L>Q		No	ClinGen TOPMed gnomAD
rs924224785 CA290794899	648	A>G		No	ClinGen TOPMed
CA399643066 rs1489280394	648	A>T		No	ClinGen TOPMed
rs769294024 CA8581927	652	W>R		No	ClinGen ExAC TOPMed gnomAD
CA399643161 rs1237947373	655	S>F		No	ClinGen TOPMed
CA8581928 rs775467602	659	V>D		No	ClinGen ExAC gnomAD
rs762856453 CA8581929	660	S>N		No	ClinGen ExAC gnomAD
CA8581930 rs763917751	663	A>V		No	ClinGen ExAC TOPMed gnomAD
rs751402794 CA290794920	664	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751402794 CA8581931	664	N>T		No	ClinGen ExAC TOPMed gnomAD
CA8581933 rs766626800	668	H>N		No	ClinGen ExAC gnomAD
rs779112242 CA8581936	673	I>L		No	ClinGen ExAC
CA290794951 rs753292452	673	I>M		No	ClinGen ExAC TOPMed gnomAD
rs947366339 CA290794954	674	E>K		No	ClinGen gnomAD
rs759001465 CA8581938	679	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1362544917 CA399645184	679	N>S		No	ClinGen TOPMed
CA399645221 rs1449492957	681	R>W		No	ClinGen TOPMed gnomAD
rs780967120 CA8581942	684	N>K		No	ClinGen ExAC gnomAD
CA290794966 rs935173141	685	T>I		No	ClinGen TOPMed
rs942124398 CA290795080	688	G>D		No	ClinGen TOPMed
rs1597808144 CA399645596	690	P>R		No	ClinGen Ensembl
rs1467544178 CA399645691	694	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs748812082 CA8581964	694	W>R		No	ClinGen ExAC gnomAD
CA290795098 rs1036815066	695	I>T		No	ClinGen TOPMed gnomAD
CA399645733 rs1433318265	697	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs139297967 CA8581966	700	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8581967 rs774403067	701	Q>P		No	ClinGen ExAC gnomAD
rs748013360 CA8581968	702	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	705	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474839908 CA399645899	705	W>C		No	ClinGen TOPMed
CA399645907 rs1345112906	706	G>*		No	ClinGen gnomAD
TCGA novel	707	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253979681 CA399645972	710	P>L		No	ClinGen gnomAD
CA8581969 rs771942502	711	G>E		No	ClinGen ExAC gnomAD
CA399646011 rs1238108293	712	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772908052 CA8581970	712	I>T		No	ClinGen ExAC gnomAD
CA8581971 rs760493388	714	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775785857 CA8581973	714	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775785857 CA399646040	714	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8581972 rs760493388	714	R>S		No	ClinGen ExAC TOPMed gnomAD
rs764070743 CA8581975	716	A>V		No	ClinGen ExAC gnomAD
rs199522414 CA8581977	721	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8581978 rs768029287	721	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199522414 CA8581976	721	R>W		No	ClinGen ExAC TOPMed gnomAD
CA399646127 rs1171468770	722	S>R		No	ClinGen gnomAD
rs1597808199 CA399646164	724	V>A		No	ClinGen Ensembl
rs373280448 CA8581979	725	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs896391672 CA290795181	729	Y>H		No	ClinGen TOPMed
CA8581982 rs575801693	731	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA399646296 rs1337262162	733	D>N		No	ClinGen gnomAD
rs778254570 CA8581984	734	A>T		No	ClinGen ExAC TOPMed gnomAD
rs146598205 CA8581985	737	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs539966924 CA8582005	742	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8582007 rs770900986	750	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs931779390 CA290795302 COSM3402912	756	Q>K	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs781106916 CA8582008	759	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8582009 rs373128299	760	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768782416 CA8582010	761	D>E		No	ClinGen ExAC gnomAD
CA399646949 rs1378367385	761	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs565230756 CA8582011 COSM1383425	762	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA399647024 rs1457064945	764	R>H		No	ClinGen TOPMed gnomAD
rs752362508 CA8582014	765	S>C		No	ClinGen ExAC gnomAD
CA399647065 rs1409891804	766	T>I		No	ClinGen TOPMed gnomAD
rs761138202 CA8582015	768	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1320893924 CA399647276	777	R>C		No	ClinGen gnomAD
rs550459405 CA8582016	777	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290795340 rs897472320	779	Y>*		No	ClinGen TOPMed
CA399647314 rs1263886169	779	Y>H		No	ClinGen gnomAD
CA8582019 rs764798398	781	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM187118 CA8582020 rs764798398	781	D>N	large_intestine Variant assessed as Somatic; 4.63e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757901877 RCV001008672 CA8582021	782	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA399647478 rs1567973617	782	R>Q		No	ClinGen Ensembl
rs1380659269 CA399647486	783	N>D		No	ClinGen TOPMed
TCGA novel	784	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8582040 rs763803925	789	S>F		No	ClinGen ExAC gnomAD
CA399647553 rs763803925	789	S>Y		No	ClinGen ExAC gnomAD
CA399647556 rs1449655631	790	F>V		No	ClinGen gnomAD
rs756769687 CA8582042	793	G>R		No	ClinGen ExAC gnomAD
CA8582043 rs767568354	794	A>G		No	ClinGen ExAC gnomAD
rs1333103106 CA399647605	795	A>T		No	ClinGen TOPMed
rs1176238352 CA399647616	795	A>V		No	ClinGen TOPMed gnomAD
CA8582044 rs750371440	797	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8582045 rs557243665	797	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399647640 rs557243665	797	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365702633 CA399647669	799	P>L		No	ClinGen gnomAD
rs1365702633 CA399647667	799	P>R		No	ClinGen gnomAD
rs143861583 CA8582046	800	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA399647678 rs1297158657	800	P>Q		No	ClinGen TOPMed gnomAD
CA8582047 rs143861583	800	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399647672 rs143861583	800	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399647687 rs758640560	801	I>F		No	ClinGen ExAC TOPMed gnomAD
rs758640560 CA8582048	801	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777914248 CA8582049	802	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8582050 rs747092658	802	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	811	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399647873 rs1333070883	812	Y>C		No	ClinGen gnomAD
CA399647905 rs1224177505	814	R>K		No	ClinGen gnomAD
CA399647975 rs1188388459	817	A>S		No	ClinGen gnomAD
TCGA novel	819	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777210503 CA8582055	819	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777210503 CA399648016	819	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8582057 rs763851770	821	V>I		No	ClinGen ExAC gnomAD
CA399648096 rs1161291806	823	L>R		No	ClinGen gnomAD
rs761482950 CA8582059	825	N>D		No	ClinGen ExAC TOPMed gnomAD
CA290795614 rs892253613	826	M>I		No	ClinGen TOPMed
CA8582060 rs767124812	827	G>A		No	ClinGen ExAC gnomAD
rs1318376547 CA399648185	828	G>A		No	ClinGen TOPMed gnomAD
CA399648187 rs1318376547	828	G>V		No	ClinGen TOPMed gnomAD
CA399648197 rs1343627034	829	P>R		No	ClinGen gnomAD
rs1438940310 CA399648213	830	Y>*		No	ClinGen gnomAD
CA399648221 rs1208451263	831	C>Y		No	ClinGen gnomAD
rs1366998857 CA399648238	832	Q>R		No	ClinGen gnomAD
CA8582062 rs756105722	834	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000761956 CA8582063 rs142029931	834	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs753677285 CA8582064 COSM1243164	835	R>*	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs145894379 CA8582065	835	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs376464742 CA8582067	837	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582069 rs781303588	839	R>Q		No	ClinGen ExAC gnomAD
COSM3421581 CA8582068 rs757375034	839	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8582071 rs770356660	840	V>M		No	ClinGen ExAC gnomAD
CA8582073 rs368588909	844	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582085 rs751817547	844	T>R		No	ClinGen ExAC
rs757503886 CA399648441	845	S>C		No	ClinGen ExAC gnomAD
rs757503886 CA8582086	845	S>F		No	ClinGen ExAC gnomAD
rs1371275867 CA399648444	846	R>Q		No	ClinGen gnomAD
rs781224353 CA8582087	846	R>W		No	ClinGen ExAC TOPMed gnomAD
rs199782327 CA8582090	851	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1338435664 CA399648506	851	A>V		No	ClinGen gnomAD
rs1356799815 CA399648540	854	V>L		No	ClinGen gnomAD
CA8582093 rs779448510	859	E>D		No	ClinGen ExAC TOPMed gnomAD
CA399648604 rs1274680895 COSM1710317	859	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1193628928 CA399648634	861	L>V		No	ClinGen gnomAD
rs922782151 CA290795931	865	S>L		No	ClinGen Ensembl
rs748471928 CA8582094	866	D>H		No	ClinGen ExAC TOPMed gnomAD
CA290795934 rs748471928	866	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1241063012 CA399648719	867	D>E		No	ClinGen gnomAD
rs1567974035 COSM280005 CA399648715	867	D>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8582095 rs761376045	867	D>N		No	ClinGen ExAC TOPMed gnomAD
rs772669073 CA8582096	868	F>S		No	ClinGen ExAC gnomAD
TCGA novel	869	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760298762 CA8582097	871	N>D		No	ClinGen ExAC gnomAD
CA8582098 rs770333514	871	N>S		No	ClinGen ExAC gnomAD
CA399648801 rs1166295273	873	D>E		No	ClinGen TOPMed gnomAD
CA399648788 rs1225918247	873	D>H		No	ClinGen TOPMed
CA8582100 rs759437296	874	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762678938 CA8582103	879	R>Q		No	ClinGen ExAC gnomAD
rs374737961 CA8582102	879	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8582105 rs750610399	884	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750610399 CA8582106	884	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766349836 CA8582107	886	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA399649061 rs1257297280	887	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754439008 CA8582108	887	A>V		No	ClinGen ExAC TOPMed gnomAD
rs368166689 CA399649120	888	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs372141725 CA8582110 COSM3755557	888	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8582109 rs368166689	888	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582113 rs144659252	890	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248877516 CA399649194	890	R>Q		No	ClinGen TOPMed gnomAD
CA8582114 rs746619506	891	V>L		No	ClinGen ExAC gnomAD
rs529982247 CA399649340	894	R>L		No	ClinGen ExAC TOPMed gnomAD
rs529982247 CA8582117	894	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8582116 rs148513528	894	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749955095 CA290796044	895	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8582118 rs769738213	895	P>S		No	ClinGen ExAC gnomAD
CA290796045 rs1033069370	896	W>C		No	ClinGen TOPMed
CA399649475 rs1404605816	898	L>V		No	ClinGen gnomAD
rs144243880 CA8582120	899	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8582119 rs775340803	899	R>W		No	ClinGen ExAC gnomAD
CA8582122 rs773535831	900	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8582125 rs146094809	901	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582124 rs201054294	901	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA399649558 rs1232368721	902	P>S		No	ClinGen gnomAD
rs1432863250 CA399649750	907	I>M		No	ClinGen TOPMed
CA8582127 rs765906970	909	M>T		No	ClinGen ExAC gnomAD
rs753242935 CA8582128	910	E>*		No	ClinGen ExAC gnomAD
CA8582129 rs758845692	911	Y>S		No	ClinGen ExAC gnomAD
CA399649937 rs777967716	912	D>A		No	ClinGen ExAC gnomAD
CA8582130 rs777967716	912	D>G		No	ClinGen ExAC gnomAD
CA399650047 rs1203647391	914	P>L		No	ClinGen gnomAD
rs1452236012 CA399650079	915	L>F		No	ClinGen gnomAD
rs1236673460 CA399651726	918	G>A		No	ClinGen TOPMed
CA399651789 rs1597809661	921	E>V		No	ClinGen Ensembl
CA8582150 rs780890039	922	L>F		No	ClinGen ExAC gnomAD
CA8582151 rs567180800	924	R>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM187121 CA8582152 rs755673095	925	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8582153 rs779511124	925	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs992186406 CA290796491	927	F>S		No	ClinGen Ensembl
CA8582155 rs768488018	931	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1482650138 CA399652004	931	L>F		No	ClinGen gnomAD
rs778841639 CA8582156	932	R>K		No	ClinGen ExAC gnomAD
CA8582157 rs200666570	933	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200666570 CA8582158	933	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8582159 rs777042333	933	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs917913687 CA290796578	934	M>I		No	ClinGen Ensembl
CA399652060 rs1443905150	934	M>R		No	ClinGen Ensembl
rs759800860 CA290796588	935	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8582161 rs140099235	935	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759800860 CA8582160	935	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763033339 CA8582163	938	G>E		No	ClinGen ExAC gnomAD
rs905697967 CA290796589	938	G>R		No	ClinGen gnomAD
CA8582164 rs764514996	940	T>S		No	ClinGen ExAC gnomAD
rs1352665989 CA399652152	941	L>R		No	ClinGen gnomAD
TCGA novel	944	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399652180 rs1402724304	944	E>Q		No	ClinGen gnomAD
rs755797621 CA8582169	945	G>D		No	ClinGen ExAC TOPMed gnomAD
rs151308193 CA8582168	945	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771176491 CA8582170	946	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753288783 CA8582171	946	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8582172 rs754503459	947	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778769699 CA8582173	948	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8582174 rs748092457	950	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399652236 rs1165464595	950	S>T		No	ClinGen TOPMed
rs772032908 CA8582175	951	E>K		No	ClinGen ExAC gnomAD
rs777741549 CA399652292	952	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8582176 rs777741549	952	G>S		No	ClinGen ExAC TOPMed gnomAD
CA399652312 rs1412856934	953	T>A		No	ClinGen TOPMed
rs140596928 CA8582178	953	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399652309 rs1412856934	953	T>P		No	ClinGen TOPMed
CA8582180 rs763011893	954	S>L		No	ClinGen ExAC TOPMed gnomAD
CA399652385 rs150066200	955	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582181 rs150066200	955	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs990773936 CA290796639	955	P>S		No	ClinGen TOPMed gnomAD
CA399652417 rs1176718699	957	C>R		No	ClinGen TOPMed gnomAD
rs1405336706 CA399652424	957	C>Y		No	ClinGen gnomAD
rs367718366 CA8582182	959	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA399652548 rs1391078489	963	H>D		No	ClinGen gnomAD
rs767975139 CA8582184	964	P>R		No	ClinGen ExAC gnomAD
CA8582186 rs760960237	965	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1225869065 CA399652628	967	P>R		No	ClinGen TOPMed
CA399652618 rs1284472986	967	P>S		No	ClinGen gnomAD
TCGA novel	972	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574007745 CA290796661	973	R>C		No	ClinGen TOPMed
rs777181833 CA8582189	973	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764772808 CA8582191	975	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8582192 rs752214879	977	R>C		No	ClinGen ExAC TOPMed gnomAD
CA399652928 rs1161043887	978	Y>F		No	ClinGen gnomAD
CA8582195 rs746806222	979	S>T		No	ClinGen ExAC gnomAD
rs757116427 CA8582196	982	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1343715972 CA399652997	983	C>R		No	ClinGen gnomAD
TCGA novel	984	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8582198 rs749504437	986	D>H		No	ClinGen ExAC gnomAD
CA399653091 rs1303881636	988	T>M		No	ClinGen gnomAD
CA399653139 rs1409403883	991	D>H		No	ClinGen TOPMed
CA399653146 rs1290522222	991	D>V		No	ClinGen gnomAD
CA8582202 rs144879356	993	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323184496 CA399653196	994	Y>H		No	ClinGen TOPMed gnomAD
rs761083082	997	H>=	Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA8582205 COSM1248644 rs766739363	998	D>N	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777075814 CA8582223	999	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8582224 rs759759471	999	I>T		No	ClinGen ExAC TOPMed gnomAD
rs963718283 CA290767265	1004	E>*		No	ClinGen Ensembl
rs530019096 CA8582225	1005	P>L		No	ClinGen ExAC TOPMed gnomAD
rs530019096 CA399623316	1005	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1473858130 CA399623310	1005	P>S		No	ClinGen gnomAD
rs1352287987 CA399623329	1006	G>A		No	ClinGen TOPMed
CA399623344 rs1326693012	1007	T>S		No	ClinGen TOPMed
COSM260191 CA290767270 rs926257786	1010	R>C	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8582228 rs763675321	1010	R>H		No	ClinGen ExAC TOPMed gnomAD
rs926257786 CA399623401	1010	R>S		No	ClinGen gnomAD
CA8582230 rs761845652	1016	A>P		No	ClinGen ExAC gnomAD
rs145807393 CA8582231 RCV000519213	1016	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA399623511 rs1380211897	1017	L>M		No	ClinGen gnomAD
rs906671083 CA290767279	1018	R>C		No	ClinGen TOPMed gnomAD
rs1366528827 CA399623568	1019	S>F		No	ClinGen gnomAD
rs752891286 CA8582236	1022	R>G		No	ClinGen ExAC gnomAD
CA8582237 rs372754665	1022	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582238 rs747010251	1026	H>R		No	ClinGen ExAC gnomAD
CA399623673 rs1461590726	1026	H>Y		No	ClinGen gnomAD
rs771482699 CA8582239	1027	M>R		No	ClinGen ExAC gnomAD
rs1195355207 CA399623737	1029	S>I		No	ClinGen gnomAD
rs138718781 CA8582241	1030	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs532151522 CA8582240	1030	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8582243 rs775334145	1033	P>A		No	ClinGen ExAC gnomAD
CA290767296 rs547368425	1035	Y>*		No	ClinGen 1000Genomes gnomAD
rs867551940 CA290767298	1036	E>G		No	ClinGen Ensembl
rs1284722457 CA399623784	1036	E>K		No	ClinGen TOPMed gnomAD
CA290767300 rs868321614	1038	G>V		No	ClinGen Ensembl
rs1336534511 CA399623805	1039	Y>S		No	ClinGen gnomAD
CA290767302 rs765066448	1041	P>L		No	ClinGen gnomAD
CA399623828 rs765066448	1041	P>R		No	ClinGen gnomAD
CA399623846 rs1325358153	1043	Y>C		No	ClinGen gnomAD
rs768384591 CA8582245	1046	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1441382343 CA399623888	1047	G>D		No	ClinGen TOPMed
CA399623907 rs1222650619	1049	V>M		No	ClinGen gnomAD
CA399623939 rs1197872888	1052	Y>S		No	ClinGen gnomAD
rs761172021 CA8582247	1054	G>R		No	ClinGen ExAC gnomAD
rs767499309 CA399623977	1055	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8582248 rs767499309	1055	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1460118327 CA399623973	1055	P>S		No	ClinGen gnomAD
rs760564070 CA8582250	1056	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1597811174 CA399623992	1057	Y>S		No	ClinGen Ensembl
CA399624007 rs1271647997	1058	R>C		No	ClinGen gnomAD
rs766128262 CA8582251	1058	R>H	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399624001 rs1271647997	1058	R>S		No	ClinGen gnomAD
CA399624055 rs1427639759	1061	D>N		No	ClinGen gnomAD
CA8582254 rs565799517	1062	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA399624095 rs1379993768	1063	P>T		No	ClinGen gnomAD
TCGA novel	1064	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290767321 rs201210876	1064	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs143542325 CA8582256	1064	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs781752633 CA8582257	1065	P>S		No	ClinGen ExAC TOPMed gnomAD
CA290767326 rs746339446	1067	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1252004903 CA399624159	1067	R>Q		No	ClinGen TOPMed
CA8582258 rs746339446	1067	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8582259 rs770324433	1069	V>M		No	ClinGen ExAC gnomAD
CA8582260 rs780598071	1070	P>L		No	ClinGen ExAC TOPMed gnomAD
rs377221811 CA290767335	1071	G>R		No	ClinGen ESP TOPMed gnomAD
rs377221811 CA399624223	1071	G>S		No	ClinGen ESP TOPMed gnomAD
CA8582262 rs768439624	1073	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773813371 CA8582263	1073	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1267447097 CA399624308	1076	V>A		No	ClinGen gnomAD
rs752722105 CA8582266	1079	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372272058 CA8582267	1080	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451203493 CA399624359	1080	T>P		No	ClinGen gnomAD
CA399624370 rs1567975720	1081	G>R		No	ClinGen Ensembl
rs1301205378 CA399624409	1082	E>D		No	ClinGen gnomAD
CA399624400 rs1423866065	1082	E>Q		No	ClinGen gnomAD
CA399624415 rs1352335907	1083	E>K		No	ClinGen gnomAD
CA399624457 rs1597811336	1084	V>G		No	ClinGen Ensembl
CA399624532 rs1317749788	1087	S>R		No	ClinGen TOPMed
rs1306087846 CA399624526	1087	S>T		No	ClinGen gnomAD
rs759257760 CA8582271	1088	F>V		No	ClinGen ExAC gnomAD
rs1293964051 CA399624605	1091	S>G		No	ClinGen gnomAD
rs148038198 CA290767346	1091	S>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	1092	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399624649 rs1304594342	1093	A>D		No	ClinGen gnomAD
CA399624640 rs1290176252	1093	A>S		No	ClinGen gnomAD
rs1290176252 CA399624645	1093	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs536852782 CA290767350	1094	P>S		No	ClinGen 1000Genomes
CA399624695 rs1345526425	1096	V>A		No	ClinGen TOPMed gnomAD
rs199565455 CA8582278	1099	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290767355 rs965213043	1100	V>I		No	ClinGen TOPMed gnomAD
CA399624787 rs1341446041	1101	S>G		No	ClinGen gnomAD
TCGA novel	1102	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1105	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749677753 CA8582279	1105	R>H		No	ClinGen ExAC gnomAD
CA8582280 rs1555644047	1106	D>Y		No	ClinGen Ensembl
CA290767359 rs906470963	1109	A>S		No	ClinGen gnomAD
rs906470963 CA399624957	1109	A>T		No	ClinGen gnomAD
CA8582282 rs141771781	1110	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA399625003 rs1356187265	1111	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	1112	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs921009671 CA290767362	1112	I>T		No	ClinGen TOPMed
CA399625026 rs1462456430	1113	K>T		No	ClinGen gnomAD
rs372857776 CA8582284	1114	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs746463588 CA8582287	1116	G>R		No	ClinGen ExAC TOPMed gnomAD
CA399625167 rs1597811639	1117	T>A		No	ClinGen Ensembl
rs1597811639 CA399625164	1117	T>P		No	ClinGen Ensembl
CA8582306 rs142756549	1121	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481386569 CA399625233	1121	R>P		No	ClinGen TOPMed gnomAD
rs1481386569 CA399625232	1121	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	1124	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428377384 CA399625329	1127	S>G		No	ClinGen gnomAD
rs192340009 CA290767406	1130	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192340009 CA8582309 COSM979591	1130	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs762752914 CA8582310	1135	T>I		No	ClinGen ExAC gnomAD
rs1288422848 CA399625498	1136	R>*		No	ClinGen gnomAD
rs1339014732 CA399625501 RCV000996556	1136	R>Q		No	ClinGen ClinVar dbSNP gnomAD
CA399625535 rs1407299243	1138	V>L		No	ClinGen gnomAD
rs34251597 CA8582312	1140	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA399625679 rs1463360237	1144	H>Y		No	ClinGen Ensembl
rs1285913802 CA399625734	1146	I>V		No	ClinGen gnomAD
rs140065370 CA8582315	1147	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs140065370 CA8582314	1147	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582316 rs202209610	1147	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8582317 rs765715419	1149	T>A		No	ClinGen ExAC gnomAD
CA8582318 rs753006645	1149	T>N		No	ClinGen ExAC gnomAD
rs377605075 CA8582320	1150	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs751189554 CA8582321	1150	R>H		No	ClinGen ExAC gnomAD
CA290767421 rs866035774	1152	Y>C		No	ClinGen Ensembl
CA399625847 rs1410422291	1152	Y>D		No	ClinGen gnomAD
CA290767423 rs940735813	1153	R>Q		No	ClinGen TOPMed gnomAD
rs1401516302 CA399625878	1153	R>W		No	ClinGen gnomAD
CA8582324 rs374577901	1157	I>V		No	ClinGen ESP ExAC gnomAD
rs1597812397 CA399627687	1159	V>G		No	ClinGen Ensembl
CA8582359 rs763547533	1163	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1407769615 CA399627873	1167	Q>H		No	ClinGen gnomAD
rs1396162520 CA399627890	1168	K>R		No	ClinGen TOPMed
CA8582363 rs762101272	1170	S>L		No	ClinGen ExAC gnomAD
rs1456904699 CA399628050	1173	V>M		No	ClinGen TOPMed
rs776396855 CA8582365	1174	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1270660547 CA399628152	1176	Q>H		No	ClinGen gnomAD
rs1379420211 CA399628190	1177	L>F		No	ClinGen TOPMed
CA399628162 rs570146382	1177	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1417151952 CA399628186	1177	L>S		No	ClinGen TOPMed
CA8582367 rs765885546	1180	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1171179818 CA399628270	1181	K>E		No	ClinGen Ensembl
CA399628290 rs1351444841	1181	K>R		No	ClinGen gnomAD
rs144769876 CA290767690	1183	L>M		No	ClinGen ESP
CA8582368 rs753233684	1186	G>R		No	ClinGen ExAC gnomAD
rs754975579 CA8582369	1187	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8582370 rs374717974	1187	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582371 rs748020292	1189	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8582401 rs772531609	1191	T>I		No	ClinGen ExAC gnomAD
CA399628737 rs1329494392	1192	G>R		No	ClinGen gnomAD
rs200797891 CA8582404	1194	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8582403 rs760878813	1194	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8582405 rs776132687	1195	D>G		No	ClinGen ExAC TOPMed gnomAD
rs4419104 CA8582406	1196	P>L		No	ClinGen ExAC TOPMed gnomAD
CA290767739 rs4419104	1196	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1365201970 CA399628901	1197	E>Q		No	ClinGen TOPMed gnomAD
CA399628985 rs1470176517	1199	Q>E		No	ClinGen TOPMed gnomAD
CA8582409 rs151113401	1200	R>C		No	ClinGen ESP ExAC gnomAD
rs763880701 CA8582410	1200	R>H		No	ClinGen ExAC TOPMed gnomAD
rs151113401 CA290767744	1200	R>S		No	ClinGen ESP ExAC gnomAD
rs141066536 CA399629096	1203	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA399629093 rs141066536	1203	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582411 rs141066536	1203	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs199932716 CA290767748	1205	G>A		No	ClinGen TOPMed gnomAD
CA399629219 rs1437273463	1209	C>F		No	ClinGen gnomAD
CA8582416 rs778999936	1213	V>I		No	ClinGen ExAC gnomAD
rs748180882 CA8582417	1214	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144176225 CA8582418	1214	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1000472563 CA290767756	1216	N>D		No	ClinGen TOPMed
rs778135782 CA8582419	1216	N>K		No	ClinGen ExAC gnomAD
CA8582422 rs771175667	1219	A>G		No	ClinGen ExAC gnomAD
CA8582421 rs771175667	1219	A>V		No	ClinGen ExAC gnomAD
CA8582424 rs769522374	1223	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1368358679 CA399629600	1225	F>Y		No	ClinGen TOPMed
rs775153843 CA8582425	1226	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399629620 rs1481806507	1226	R>L		No	ClinGen gnomAD
CA399629616 rs1481806507 COSM1383428	1226	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs762486604 CA8582426	1227	T>N		No	ClinGen ExAC gnomAD
rs764160554 CA8582427	1228	P>S		No	ClinGen ExAC gnomAD
rs774144532 CA8582428	1229	R>*		No	ClinGen ExAC gnomAD
rs201223272 CA8582429	1229	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA399629726 rs1385348153	1231	M>I		No	ClinGen gnomAD
CA8582430 rs767189221	1232	T>I		No	ClinGen ExAC gnomAD
CA8582431 rs750182361	1233	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1237	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399629873 rs1462298549	1238	A>D		No	ClinGen gnomAD
CA290767770 rs575163095	1240	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1241	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8582432 rs755219641	1242	Q>H		No	ClinGen ExAC gnomAD
rs1224602428 CA399629957	1242	Q>R		No	ClinGen gnomAD
rs765372689 CA8582433	1243	G>R		No	ClinGen ExAC gnomAD
CA290767774 rs1036319936	1244	E>K		No	ClinGen Ensembl
rs747441144 CA8582437	1247	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749675222 CA290767781	1251	G>R		No	ClinGen Ensembl
CA8582440 rs746176257	1251	G>V		No	ClinGen ExAC gnomAD
CA290767786 rs202174111	1255	R>C		No	ClinGen gnomAD
CA8582442 rs371692918	1255	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs748893707 CA8582443	1256	L>F		No	ClinGen ExAC gnomAD
CA8582460 rs779890513	1274	P>A		No	ClinGen ExAC gnomAD
rs1199956387 CA399630602	1274	P>L		No	ClinGen gnomAD
rs1432826772 CA399630630	1276	Y>H		No	ClinGen gnomAD
CA399630707 rs1420435184	1280	G>R		No	ClinGen gnomAD
CA8582464 rs150329319	1281	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8582465 rs772060073	1282	V>I		No	ClinGen ExAC gnomAD
CA8582466 rs773133272	1283	A>S		No	ClinGen ExAC gnomAD
rs760506538 CA8582467	1285	L>F		No	ClinGen ExAC gnomAD
CA8582468 rs760506538	1285	L>V		No	ClinGen ExAC gnomAD
CA290768009 rs913638999	1289	L>F		No	ClinGen TOPMed
rs35100530 CA8582492	1290	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1290	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774627571 CA8582493	1291	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1395924301 CA399631015	1291	A>T		No	ClinGen TOPMed
CA8582495 rs137947865	1298	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761292846 CA8582497	1302	V>A		No	ClinGen ExAC gnomAD
rs750479086 CA8582496	1302	V>M		No	ClinGen ExAC gnomAD
rs201933670 CA290768015	1304	F>S		No	ClinGen Ensembl
rs1173006756 CA399631279	1306	L>P		No	ClinGen gnomAD
CA290768017 rs916065681	1306	L>V		No	ClinGen gnomAD
rs948880576 CA290768019	1310	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766922644 CA8582498	1310	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755370304 CA8582500	1311	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1448171133 CA399631353	1312	K>N		No	ClinGen gnomAD
rs1567977360 CA399631349	1312	K>R		No	ClinGen Ensembl
CA399631367 rs1597813808	1314	S>P		No	ClinGen Ensembl
rs1354232796 CA399631409	1317	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	1318	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752375520 CA8582502	1319	E>K		No	ClinGen ExAC gnomAD
rs1256447488 CA399631464	1322	A>T		No	ClinGen TOPMed gnomAD
COSM1383429 CA8582504 rs777298772	1322	A>V	Variant assessed as Somatic; 4.644e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA290768027 rs1053084351	1323	A>D		No	ClinGen Ensembl
CA399631504 rs1472099111	1325	E>D		No	ClinGen gnomAD
CA8582505 rs746451353	1325	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1356135828 CA399631510	1326	Y>H		No	ClinGen TOPMed
CA399631516 rs1597813860	1326	Y>S		No	ClinGen Ensembl
CA399631534 rs1446216140	1327	H>Q		No	ClinGen TOPMed
CA399631546 rs1567977422	1329	G>S		No	ClinGen Ensembl
rs1597813881 CA399631566	1331	K>N		No	ClinGen Ensembl
rs200871551 CA8582510	1332	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8582509 rs769599374	1332	P>T		No	ClinGen ExAC gnomAD
CA8582511 rs748402395	1333	P>L		No	ClinGen ExAC gnomAD
rs888963438 CA399631584	1335	P>L		No	ClinGen TOPMed
rs888963438 CA290768038	1335	P>R		No	ClinGen TOPMed
rs576868740 CA8582512	1335	P>T		No	ClinGen ExAC TOPMed gnomAD
CA399631586 rs1597813908	1336	T>P		No	ClinGen Ensembl
RCV000627296 CA399631617 rs143154224	1341	Q>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8582514 rs143154224	1341	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs570981828 CA8582515	1342	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1266368038 CA399631623	1342	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	1344	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8582518 rs765660313	1344	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1345	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1346	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8582520 rs758052419	1346	T>I		No	ClinGen ExAC gnomAD
CA290768045 rs1026022504	1346	T>S		No	ClinGen Ensembl
CA399631666 rs1278045754	1349	P>L		No	ClinGen gnomAD
rs763680724 CA8582521	1350	N>S		No	ClinGen ExAC gnomAD
rs547056058 CA8582522	1352	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1353	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260923021 CA399631698	1354	A>V		No	ClinGen TOPMed gnomAD
rs1378944630 CA399631702	1355	S>L		No	ClinGen gnomAD
CA8582529 rs781030048	1357	P>S		No	ClinGen ExAC gnomAD
CA290768055 rs929477066	1358	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8582530 rs745794725	1358	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399631722 rs1399459969	1359	P>A		No	ClinGen gnomAD
rs568590941 CA8582535	1361	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs536045727 CA290768063	1362	T>A		No	ClinGen 1000Genomes
CA399631742 rs1359001796	1362	T>I		No	ClinGen TOPMed
rs1333011065 CA399631749	1364	A>S		No	ClinGen gnomAD
rs1234269938 CA399631764	1366	A>D		No	ClinGen TOPMed gnomAD
rs1022684402 CA290768067	1367	P>R		No	ClinGen Ensembl
CA290768065 rs895895811	1367	P>S		No	ClinGen TOPMed gnomAD
rs772432810 CA8582537	1369	P>S		No	ClinGen ExAC gnomAD
rs773551154 CA290768069	1370	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8582540 rs567668572	1370	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8582539 rs567668572	1370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8582538 rs773551154	1370	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1371	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290768073 rs926116811	1374	L>P		No	ClinGen gnomAD
rs1375611934 CA399631839	1375	P>H		No	ClinGen gnomAD
rs765598952 CA8582543	1375	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1158743327 CA399631852	1376	Q>*		No	ClinGen gnomAD
CA399631959 rs1279444614	1381	S>F		No	ClinGen TOPMed
rs751181300 CA8582548	1382	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763803424 CA8582547	1382	R>T		No	ClinGen ExAC gnomAD
rs1449013320 CA399631994	1384	E>Q		No	ClinGen gnomAD

1 associated diseases with P78357

[MIM: 224690]: Meier-Gorlin syndrome 1 (MGORS1)

A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269|PubMed:21358631, ECO:0000269|PubMed:21358632, ECO:0000269|PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P78357

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	5 - 159	IPR005225

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass type I membrane protein Cell junction, paranodal septate junction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
integral component of plasma membrane	The component of the plasma 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.
paranodal junction	A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath.
paranode region of axon	An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath.
presynaptic active zone membrane	The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters.

2 GO annotations of molecular function

Name	Definition
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

17 GO annotations of biological process

Name	Definition
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
central nervous system myelination	The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of oligodendrocytes in the central nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
mitochondrion organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.
myelination in peripheral nervous system	The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
neuromuscular junction development, skeletal muscle fiber	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction that targets a skeletal muscle fiber.
neuromuscular process controlling balance	Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.
neuromuscular process controlling posture	Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
neuronal action potential propagation	The propagation of an action potential along an axon, away from the soma.
paranodal junction assembly	Formation of the junction between an axon and the glial cell that forms the myelin sheath. Paranodal junctions form at each paranode, i.e. at the ends of the unmyelinated nodes of Ranvier.
paranodal junction maintenance	The maintenance of a paranodal junction, a highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. A paranodal junction flanks the node of Ranvier in myelinated nerve, electrically isolates the myelinated from unmyelinated nerve segments, and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath.
postsynaptic density organization	A process that results in the assembly, arrangement of constituent parts, or disassembly of a postsynaptic density, a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at excitatory synapse.
protein localization to juxtaparanode region of axon	Any process in which a protein is transported to, or maintained at, the juxtaparanode region of an axon.
protein localization to paranode region of axon	A cellular protein localization process in which a protein is transported to, or maintained at, the paranode region of an axon.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
M9PE65	axo	Axotactin	Drosophila melanogaster (Fruit fly)	SS
Q0V8T9	Cntnap5a	Contactin-associated protein like 5-1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MMHLRLFCIL	LAAVSGAEGW	GYYGCDEELV	GPLYARSLGA	SSYYSLLTAP	RFARLHGISG
70	80	90	100	110	120
WSPRIGDPNP	WLQIDLMKKH	RIRAVATQGS	FNSWDWVTRY	MLLYGDRVDS	WTPFYQRGHN
130	140	150	160	170	180
STFFGNVNES	AVVRHDLHFH	FTARYIRIVP	LAWNPRGKIG	LRLGLYGCPY	KADILYFDGD
190	200	210	220	230	240
DAISYRFPRG	VSRSLWDVFA	FSFKTEEKDG	LLLHAEGAQG	DYVTLELEGA	HLLLHMSLGS
250	260	270	280	290	300
SPIQPRPGHT	TVSAGGVLND	QHWHYVRVDR	FGRDVNFTLD	GYVQRFILNG	DFERLNLDTE
310	320	330	340	350	360
MFIGGLVGAA	RKNLAYRHNF	RGCIENVIFN	RVNIADLAVR	RHSRITFEGK	VAFRCLDPVP
370	380	390	400	410	420
HPINFGGPHN	FVQVPGFPRR	GRLAVSFRFR	TWDLTGLLLF	SRLGDGLGHV	ELTLSEGQVN
430	440	450	460	470	480
VSIAQSGRKK	LQFAAGYRLN	DGFWHEVNFV	AQENHAVISI	DDVEGAEVRV	SYPLLIRTGT
490	500	510	520	530	540
SYFFGGCPKP	ASRWDCHSNQ	TAFHGCMELL	KVDGQLVNLT	LVEGRRLGFY	AEVLFDTCGI
550	560	570	580	590	600
TDRCSPNMCE	HDGRCYQSWD	DFICYCELTG	YKGETCHTPL	YKESCEAYRL	SGKTSGNFTI
610	620	630	640	650	660
DPDGSGPLKP	FVVYCDIREN	RAWTVVRHDR	LWTTRVTGSS	MERPFLGAIQ	YWNASWEEVS
670	680	690	700	710	720
ALANASQHCE	QWIEFSCYNS	RLLNTAGGYP	YSFWIGRNEE	QHFYWGGSQP	GIQRCACGLD
730	740	750	760	770	780
RSCVDPALYC	NCDADQPQWR	TDKGLLTFVD	HLPVTQVVIG	DTNRSTSEAQ	FFLRPLRCYG
790	800	810	820	830	840
DRNSWNTISF	HTGAALRFPP	IRANHSLDVS	FYFRTSAPSG	VFLENMGGPY	CQWRRPYVRV
850	860	870	880	890	900
ELNTSRDVVF	AFDVGNGDEN	LTVHSDDFEF	NDDEWHLVRA	EINVKQARLR	VDHRPWVLRP
910	920	930	940	950	960
MPLQTYIWME	YDQPLYVGSA	ELKRRPFVGC	LRAMRLNGVT	LNLEGRANAS	EGTSPNCTGH
970	980	990	1000	1010	1020
CAHPRLPCFH	GGRCVERYSY	YTCDCDLTAF	DGPYCNHDIG	GFFEPGTWMR	YNLQSALRSA
1030	1040	1050	1060	1070	1080
AREFSHMLSR	PVPGYEPGYI	PGYDTPGYVP	GYHGPGYRLP	DYPRPGRPVP	GYRGPVYNVT
1090	1100	1110	1120	1130	1140
GEEVSFSFST	SSAPAVLLYV	SSFVRDYMAV	LIKDDGTLQL	RYQLGTSPYV	YQLTTRPVTD
1150	1160	1170	1180	1190	1200
GQPHSINITR	VYRNLFIQVD	YFPLTEQKFS	LLVDSQLDSP	KALYLGRVME	TGVIDPEIQR
1210	1220	1230	1240	1250	1260
YNTPGFSGCL	SGVRFNNVAP	LKTHFRTPRP	MTAELAEALR	VQGELSESNC	GAMPRLVSEV
1270	1280	1290	1300	1310	1320
PPELDPWYLP	PDFPYYHDEG	WVAILLGFLV	AFLLLGLVGM	LVLFYLQNHR	YKGSYHTNEP
1330	1340	1350	1360	1370	1380
KAAHEYHPGS	KPPLPTSGPA	QVPTPTAAPN	QAPASAPAPA	PTPAPAPGPR	DQNLPQILEE

SRSE