AiPD: Autoinhibited Protein Database

P35221

Gene name	CTNNA1
Protein name	Catenin alpha-1
Names	Alpha E-catenin, Cadherin-associated protein, Renal carcinoma antigen NY-REN-13
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1495
EC number
Protein Class	ALPHA CATENIN (PTHR18914)

Descriptions

Catenin alpha-1 (CTNNA1, αE-catenin) is an F-actin binding protein and a homolog of vinculin, which is autoinhibited through a head-tail interaction. It plays a crucial role in cell-cell adhesion by serving as a vital link between cadherin/β-catenin complexes and the underlying actin cytoskeleton. In contrast to vinculin, CTNNA1 did not show a similar head-tail interaction-mediated autoinhibited conformation. The linker region preceding the F-actin binding domain (FABD) forms an α-helix that restricts the flexibility of FABD in monomeric CTNNA1. The middle (M) region regulates the vinculin-binding site within the M region by its subdomains. The M domain salt bridge stabilizes the autoinhibited state of the vinculin-binding site in the absence of junctional tension. The rearrangement of MII and MIII subdomains releases the autoinhibited conformation of CTNNA1, and R551A and D503N mutations destabilize the autoinhibited αE-catenin by exposing vinculin-binding site.

Autoinhibitory domains (AIDs)

Target domain	669-863 (F-actin binding domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment, Structural analysis

AID

636-650 (M-FABD linker)

Target domain

669-863 (F-actin binding domain)

Relief mechanism

Partner binding (F-actin binding to F-actin binding domain)

Assay

Mutagenesis experiment, Structural analysis

Target domain	277-393 (Vinculin-binding domain)
Relief mechanism
Assay	Mutagenesis experiment, Structural analysis

AID

396-635 (MII and MIII domains)

Target domain

277-393 (Vinculin-binding domain)

Relief mechanism

Assay

Mutagenesis experiment, Structural analysis

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

Rangarajan ES et al. (2023) "Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments", Communications biology, 6, 276

Barrick S et al. (2018) "Salt bridges gate α-catenin activation at intercellular junctions", Molecular biology of the cell, 29, 111-122

Li J et al. (2015) "Structural Determinants of the Mechanical Stability of α-Catenin", The Journal of biological chemistry, 290, 18890-903

Heier JA et al. (2021) "Distinct intramolecular interactions regulate autoinhibition of vinculin binding in αT-catenin and αE-catenin", The Journal of biological chemistry, 296, 100582

Autoinhibited structure

Activated structure

8 structures for P35221

Entry ID	Method	Resolution	Chain	Position	Source
1H6G	X-ray	220 A	A/B	377-632	PDB
4EHP	X-ray	266 A	B	277-382	PDB
4IGG	X-ray	366 A	A/B	82-906	PDB
6UPV	EM	320 A	L/M	1-906	PDB
6V2O	X-ray	127 A	C	850-859	PDB
6V2P	X-ray	130 A	C	850-859	PDB
7UTJ	EM	277 A	G/H/I/K/L/Z	22-906	PDB
AF-P35221-F1	Predicted				AlphaFoldDB

830 variants for P35221

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001011914 CA361477045 rs1580977954 RCV002551751	5	H>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3431329 RCV001012793 rs776783618 RCV001057956	6	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000802612 rs1035752743 RCV002424857 CA128716439	9	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002327662 RCV001303666 rs988942117	15	P>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002339602 CA361477121 rs1276738001 RCV001224631	16	K>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001220886 RCV002348738 rs1755160879	18	L>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002357200 RCV001349150 rs1755161812	19	E>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1561520304 RCV001075593 RCV000823543 CA361477147 RCV002352472	20	I>F	Hereditary cancer-predisposing syndrome Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001039296 RCV002372765 rs1755163589	24	A>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA361477304 RCV000812936 rs1580984043 RCV002381811	43	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3431364 RCV001202348 rs751978245 RCV002379760	46	G>W	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002390663 CA361477339 rs1580984089 RCV000816893	48	S>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001215374 RCV002402644 rs1755328571	51	K>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001324820 RCV002402908 rs1755328383	51	K>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000797284 RCV003166152 rs762712870	51	K>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002393601 RCV001237097 rs1755328949	53	G>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_076586 rs781520852 RCV001012405 RCV001043514 CA3431367	54	R>C	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome MDPT2; no effect on VCL-binding [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs781520852 CA128716555 RCV001040736 RCV002400241	54	R>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002402428 RCV001059776 CA3431368 rs746153198	54	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002402762 RCV001240575 rs1755330097	56	K>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs780078260 RCV002397687 RCV000814724 CA3431370	58	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3431374 rs748087788 RCV000818821 RCV002406875	65	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs869312766 RCV000210185	66	E>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002418806 rs369216126 RCV001234449 CA3431377	67	Q>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3431375 RCV000794542 rs772061558 RCV002422697	67	Q>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002422814 RCV000814661 CA3431378 rs766078636	68	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000799012 CA361477548 RCV002442649 rs1580984484	78	K>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1580984502 RCV001321246 RCV001015224 CA361477549	78	K>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361477571 RCV000810814 RCV002424902 rs200135015	80	A>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3431381 RCV002453885 rs200135015 RCV000821131	80	A>V	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000792749 CA3431385 RCV001015683 rs750796277	83	S>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001073498 rs768434342 RCV002440722 RCV000806689	87	K>missing	Hereditary cancer-predisposing syndrome Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs756417618 RCV002427043 RCV000819643 CA361477632	87	K>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1755340811 RCV002438730 RCV001320644	91	V>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA361477672 rs1483366405 RCV001219387 RCV003163687	93	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1755342159 RCV001218110 RCV002436837	94	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002440747 RCV000810775 rs1580984812 CA361477688	95	E>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001313590 CA3431394 rs772151551 RCV002438702	96	D>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3431395 RCV001062438 RCV002436647 rs773235871	98	R>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
COSM1433413 RCV001017615 RCV000791893 rs746832628 CA3431396	98	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs746920603 RCV001018946 CA3431418 RCV000818351	106	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002322253 rs1758516450 RCV001325715	110	E>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV003169010 rs762477632 RCV000820658 CA3431424	112	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000799023 CA3431426 RCV002458448 RCV002275135 rs773771416	113	D>E	Polyposis syndrome, hereditary mixed, 1 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768136600 CA3431425 RCV001069296 RCV002451302	113	D>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV001020425 RCV001067634 CA361122963 rs1455080825	116	C>W	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs761084210 RCV002477810 RCV001020401 RCV000795830 CA3431427	116	C>Y	Hereditary cancer-predisposing syndrome Patterned macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002453816 rs766845544 RCV000807757 CA3431428	117	S>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000795221 rs766845544 CA361122967 RCV001020484	117	S>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001759954 rs1043413100 RCV001042239	121	R>*	Patterned macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
CA3431430 RCV001020757 RCV001052007 rs749878552	121	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001020938 rs765587517 CA3431431 RCV000793291	124	M>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs371054484 RCV001320891 RCV003166855 CA361123100	126	R>P	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000792921 RCV002360913 CA3431432 rs371054484	126	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001044997 rs1758522652 RCV002355010	129	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs777986786 CA3431434 RCV000819822 RCV002372335	135	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001021801 rs1581105774 RCV000791821	136	T>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002320283 rs1758526073 RCV001051058	136	T>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs922655280 RCV002325545 CA128219058 RCV000802156	136	T>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000472749 RCV002323717 rs374142395 CA3431438	137	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000459742 RCV001021859 rs781124226 CA3431437	137	R>W	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001212435 rs1295022308 RCV002327492	143	D>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002332642 RCV000805095 rs748930609 CA3431441	144	M>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003163695 rs1758530496 RCV001220254	145	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA361123624 rs1015730449 RCV002327679 RCV001307807	149	K>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000792195 CA3431467 RCV002334467 rs533573408	159	D>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003166169 CA361124899 RCV000798622 rs1415757253	160	G>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001049364 RCV002339250 rs1292294409 CA361124909	161	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002339674 RCV001243122 rs1758892317	165	R>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1758892567 RCV003160553 RCV001067111	166	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs139770883 RCV001023459 CA3431468 RCV000803473	168	G>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000812082 RCV002336671 rs778667305 CA3431469	169	N>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361125120 RCV001209435 rs1581119386 RCV001023493	169	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs761836161 CA361125237 RCV001360973 RCV001023733	174	G>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA361125282 rs1581119469 RCV000806536 RCV002345817	176	Q>*	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001304798 CA361125312 RCV001023897 rs1581119483	177	Y>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1758897080 RCV002348436 RCV001059944	179	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_022303 rs28363394 CA3431473 RCV001023984 RCV001821358 RCV000465647	179	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001347744 CA361125365 rs750396607 RCV002350643	180	L>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001024169 rs1581119562 RCV000819817 CA361125438	183	E>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002345795 rs1448027258 CA361125457 RCV000803124	184	V>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1758900291 RCV002348415 RCV001055673	186	K>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001024351 RCV001218313 CA3431478 rs754728195	188	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001322948 RCV002350596 rs1758902518	190	M>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001024769 RCV000810618 rs900896772 CA128228909	200	D>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001059975 rs1760440516 RCV002355061	203	H>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16611784 RCV000470939 RCV001024869 rs1060502218	203	H>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002356988 CA3431509 RCV001229985 rs748407995	204	R>C	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV002352382 rs1025792545 RCV000806114 CA128228922	204	R>H	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV002352419 rs1250763367 RCV000813232 CA361129446	205	D>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs150893072 RCV000226477 RCV001024985 CA3431512	206	Q>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3431514 RCV002501094 RCV001025197 rs201391408 RCV000808831	213	I>V	Patterned macular dystrophy 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1397480575 RCV000820656 RCV003169009	216	K>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000800627 RCV002352357 rs1213476232 CA361129579	217	N>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs752549253 CA3431517 RCV001358861 RCV001025375	218	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000807424 rs752549253 CA361129596 RCV001025377	218	V>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002360975 rs369265386 RCV000806225 CA3431519	219	P>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_022304 RCV001025410 RCV000863897 rs28363406 CA3431518	219	P>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1760448767 RCV001235911 RCV002375248	220	I>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3431524 COSM3661435 RCV002365708 RCV001055032 rs755524897	222	Y>C	liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001204944 RCV001025523 CA361129647 rs1251595713	223	T>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA361129656 rs1166971890 RCV001042468 RCV002363583	224	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA3431531 rs570687363 RCV002365972 RCV001215897	234	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000806397 CA361129781 RCV002360978 rs548392885	235	A>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3431533 rs548392885 RCV000818654 RCV002372324	235	A>T	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA361129783 RCV002363091 RCV000810446 RCV001075557 rs1461611114	235	A>V	Hereditary cancer-predisposing syndrome Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3431536 rs751967797 RCV002363080 RCV000808143	237	Y>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001203935 CA3431537 rs774201046 RCV002365917	238	K>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002365699 CA3431538 rs761564837 RCV001052618	238	K>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001217792 RCV001026140 rs749980248 CA361129835	240	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1760458725 RCV002375409 RCV001317738	241	R>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs371337206 CA3431545 RCV001026252 RCV000819994	244	I>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002381859 RCV000820052 CA361129889 rs1581167854	245	Y>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000809856 RCV001026297 rs757481572 CA3431547	245	Y>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002381784 RCV000807603 CA3431548 rs781342935	246	K>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361129900 rs1442390605 RCV000823151 RCV003169049	246	K>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA361129941 rs1581167912 RCV000803596 RCV003166232	252	V>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3431555 rs78627784 RCV000809488 RCV001026742	257	N>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001026739 CA3431554 RCV000863626 rs78627784	257	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000803282 CA361129973 RCV002397625 rs1581167987	258	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001206587 RCV002411759 CA128229141 rs1043277546	260	Q>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002422736 RCV001026995 RCV001065973 RCV000800230 CA3431559 CA361130060 rs148239804	265	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002497426 RCV001056396 rs1760467219	265	D>Y	Patterned macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001062562 RCV002418527 rs911099877 CA128229150	266	D>N	Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA3431561 RCV000817114 RCV001027156 rs199867969	270	H>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001223676 CA361130146 rs1241420353 RCV002418772	272	G>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000819742 rs758909445 RCV001027349	276	G>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001223578 CA361130256 RCV002436868 rs1427235870	280	Y>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs890236162 RCV000810401 RCV002440745 CA128229183	280	Y>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001045811 RCV002445246 CA361130293 rs1355879925	283	N>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001042303 RCV001018590 CA3431590 rs765248090	300	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369518072 CA3431591 RCV000795728 RCV002370083	300	R>H	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1760848495 RCV003135953 RCV001309183	307	E>missing	Hereditary diffuse gastric adenocarcinoma [ClinVar]	Yes	ClinVar dbSNP
CA358865 rs869320697 VAR_076587 RCV000210750	307	E>K	Patterned macular dystrophy 2 MDPT2; no effect on VCL-binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001019038 CA3431592 RCV000862020 rs202131041	308	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000801004 rs376445678 RCV002370116 CA3431593 COSM50770	308	R>H	large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000210752 VAR_076588 rs869320696 CA358867	318	L>S	Patterned macular dystrophy 2 MDPT2; no effect on VCL-binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001213598 RCV003163628 rs1760851474	321	D>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM482013 CA361131003 RCV002383975 RCV000801850 rs1554085478 RCV001197574 RCV000504773	322	S>L	kidney Patterned macular dystrophy 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Retinal dystrophy [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1581178471 RCV002377411 RCV001324182	325	T>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000816733 CA361131062 RCV002372309 rs1581178503	328	D>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361131076 RCV002381779 RCV000806539 rs1337385989	329	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3431600 rs373717420 RCV000815342 RCV002381827	329	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002386396 CA3431601 RCV000795858 rs376523339	330	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002381886 CA361131102 rs1215333067 RCV000824398	332	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1581178626 RCV002442704 CA361131203 RCV000808109	341	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1760858446 RCV002395706 RCV001322013	345	Q>*	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3431607 rs201056930 RCV002400272 RCV001048424	349	S>L	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001051862 CA3431610 RCV002400297 rs777714654	354	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001017186 rs758561244 RCV001047715 COSM3409765 CA3431858	357	R>C	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome central_nervous_system [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001017199 RCV000803768 rs192686066 CA3431859	357	R>H	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA128237365 rs990885234 RCV001234935 RCV002430005	361	S>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002429648 rs1294061925 CA361132519 RCV001052167	362	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001216841 rs1354521948 CA361132554 RCV002429923	368	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000815093 RCV002433978 rs1581474221 CA361132566	369	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002547523 RCV001351290 CA361132634 rs773022966	379	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760356703 RCV002325517 RCV000796264 COSM1061460 CA3431863	379	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001017467 rs779064875 CA128238099 RCV001320380	383	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3431875 RCV002451201 rs780380304 RCV001049312 COSM172964	383	R>H	large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001222288 CA361132920 rs1163870840 RCV002348742	385	A>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3431878 RCV000824037 rs774427164 RCV001010115	390	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1754339244 TCGA novel RCV002339574 RCV001218550	393	S>Y	Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs773003463 RCV000801367 RCV002336608 CA3431880	398	N>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773003463 CA361133040 RCV002336614 RCV000802192	398	N>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200549409 CA3431881 RCV000814518 RCV001010169	398	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766086208 RCV002339279 RCV001055846 CA3431882	399	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002348467 rs1754343104 RCV001067131	402	L>W	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000819178 CA3431883 RCV001010307 rs760179421	403	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1257372712 RCV000824521 CA361133080 RCV002352475	404	L>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001348319 RCV002357196 CA361133087 rs1194900939	405	I>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001240502 RCV001074828 CA128238192 RCV002355106 rs992713245	407	A>V	Hereditary cancer-predisposing syndrome Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001212159 rs1754354782 RCV002411782	420	A>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3431889 RCV000794653 rs531171999 RCV002442625	424	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000797396 rs1424890664 RCV001010659 CA361133219	424	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1754361470 RCV001073862	427	A>V	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001051705 rs1396302901 RCV002379550 CA361133247	428	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1311867806 RCV001212622 CA361133254 RCV002379804	429	K>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002379811 rs1754363697 RCV001214346	431	I>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_076589 RCV002381724 rs755215402 CA357855 RCV000210749	431	I>M	Hereditary cancer-predisposing syndrome Patterned macular dystrophy 2 MDPT2; no effect on VCL-binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs754174029 CA3431892 RCV001305006 RCV001010794	431	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002379865 rs1758706957 RCV001226359	434	A>P	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001069892 CA3431913 rs752913534 RCV002379619	435	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000867733 CA3431914 rs138782455 RCV001010896	437	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002381774 rs769696803 CA361135926 RCV000806127	443	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002379846 rs1758714737 RCV001223782	445	E>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000821413 rs762698589 CA3431922 RCV002381866	447	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002381837 COSM274692 CA128250555 RCV000816829 rs201498915	451	R>*	large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
CA3431924 RCV002386429 rs773756164 RCV000802068	451	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002381825 COSM3720275 CA3431926 rs776209866 RCV000815165 CA361135984	452	M>I	Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ExAC gnomAD ClinVar dbSNP
rs372832887 RCV003169649 RCV001343501	452	M>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002386407 rs777109167 RCV000797784 CA3431927	454	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002379779 rs1338186632 RCV001205523 CA361136034	460	L>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1758725828 RCV001313931 RCV002384392	461	C>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002388520 CA128250562 rs977288078 RCV000806478	462	P>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA361137022 rs1580799102 RCV000813606 RCV002390645	464	V>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002391121 CA3431950 RCV001041404 rs775868066	465	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000815387 rs764267687 CA3431952 RCV002390652	466	N>D	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA361137066 RCV000803138 rs1580799224 RCV003166224	468	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361137213 RCV001042012 RCV002391123 rs1465950903	484	M>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000815137 rs780099178 CA3431958 RCV001011726	490	Q>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001346666 RCV002275358 rs1762114658	493	K>missing	Polyposis syndrome, hereditary mixed, 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000816832 rs1356240181 CA361137287 RCV001011803	494	Q>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000818642 rs754789006 RCV002390678 CA3431960	496	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1060502219 RCV001325305 RCV002393128 CA16611821	502	V>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002395686 rs1762132582 RCV001318622	508	I>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001293821 rs1762133912	509	D>*	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
RCV002402624 rs1762137635 RCV001210574	514	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001012365 rs759542721 RCV001063989 CA3431996	533	K>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1353833789 CA361131833 RCV000800931 RCV002397616	539	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002397589 CA361131829 rs547329141 RCV000795799	539	D>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP
rs1580854940 RCV002397599 RCV000798703	540	R>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1203968888 COSM1433433 RCV000819369 RCV002397712 CA361131837	540	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000806498 CA3431999 rs139655691 COSM3237698 RCV002478866 RCV002388521	540	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine Patterned macular dystrophy 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002400267 RCV001046542 rs139655691	540	R>P	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002402847 RCV001303888 rs1763609491	545	I>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16611880 rs1060502220 RCV001350499 RCV003168809	545	I>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001224173 rs1763609978 RCV002402698	546	R>*	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1348963276 CA361131872 RCV000809730 RCV002390627	546	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002400316 CA3432001 RCV001055260 rs143060269	548	R>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001300933 rs146151753 RCV003166692	554	H>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001061949 CA3432002 RCV002402438 rs756832179	554	H>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3432004 RCV002397600 rs201877485 RCV000799122	555	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA361131937 rs1580855501 RCV001012660 RCV000791541	557	T>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1383466662 RCV002397592 CA361131946 RCV000796181	559	E>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000797906 rs769235447 CA3432005 RCV002397597	560	M>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV002402778 RCV001244343 rs1763622007	561	D>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3432007 rs748595002 RCV002409393 RCV001041137	562	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002402270 RCV000469822 CA3432008 rs772560994	563	Y>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001343598 rs1335939570 CA361131991 RCV001012773	565	P>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002402881 CA3432010 rs747249507 RCV001315877	571	K>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001535745 rs1580855958 RCV002408976 CA361132061 RCV000820479	576	T>A	Hereditary cancer-predisposing syndrome Patterned macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3432012 rs139134468 RCV000804945 RCV002397635	581	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001068693 rs1296205201 CA361132137 RCV002411603	586	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001215654 rs1325651636 RCV002411796 CA361132140	586	R>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001220704 rs1763769197 RCV002402666	588	T>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1274677659 RCV001205156 CA361132174 RCV002402590	591	V>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs540697892 CA3432032 RCV003166240 RCV000804773	591	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1211833493 CA361132193 COSM204812 RCV003169650 RCV001343502	594	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
CA128217504 RCV001205800 RCV002411757 rs757780458	595	V>M	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001041201 RCV002400244 rs1763774286	597	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3432037 RCV002408977 rs761567176 RCV000820674	600	S>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002412082 CA128217514 RCV001344869 rs191687307	600	S>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV001203149 RCV002411742 CA3432039 rs543603775	602	P>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1042043013 RCV000804451 RCV002406790 CA128217564	604	Q>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001051922 CA3432040 rs755724779 RCV002409433	604	Q>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1580861711 CA361132255 RCV002406721 RCV000791612	605	P>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1763786362 RCV002411869 RCV001234567	613	D>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001303444 rs781540605 RCV002411964 CA3432047	616	R>H	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV003160344 rs1207363850 CA361132344 RCV001045889	618	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001202938 rs1207363850 RCV002411739	618	V>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV003169753 rs1192687150 CA361132415 RCV001352522	628	A>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1764793973 RCV002411880 RCV001238355	636	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001013795 rs139529481 CA3432074 RCV000821462	648	F>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1003481327 RCV001235364 RCV002418809 COSM1202581 CA128220934	654	T>M	large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
RCV001059291 rs564390551 RCV001013890 CA3432077	656	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1764805365 RCV002419008 RCV001342202	657	Q>*	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001352297 RCV002420766 rs1764809610	665	A>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1580896544 CA361132913 RCV001013960	665	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361133319 rs1580907792 RCV002422690 RCV000793962 RCV003141775 RCV001074413	675	Q>*	Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003160466 CA361133652 RCV001057911 rs1263470557	721	M>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002509555 RCV002427020 rs1401839892 RCV000816771 CA361133730	731	R>*	Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome CTNNA1-associated FEVR [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000464946 RCV001014759 rs1022043882 CA16611789	735	P>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001350866 CA361133851 rs1254765947 RCV003169739	748	K>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA3432174 RCV002442671 rs760684787 RCV000802971	782	R>C	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002447133 rs1215571495 RCV001226016 CA361134489	799	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000821242 RCV001323547 COSM1061471 CA361134531 RCV002453888 rs1297469358	805	G>R	Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
CA361134569 RCV001066447 rs1373407335 RCV002451287	811	G>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002429920 RCV001216029 rs1765968933	816	M>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001015698 RCV000796840 rs781450977 CA3432252	831	Q>H	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3432254 rs377477287 RCV000822146 RCV002453893	835	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000804014 CA128225466 rs1054245968 RCV001015738	838	V>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000805169 RCV002424871 CA3432261 rs771672517	841	T>N	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000822067 rs1580945247 RCV002434017 CA361135462	852	L>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000815250 RCV002427011 rs199994641 CA3432267	853	N>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3432268 RCV001015956 RCV000476042 rs199994641	853	N>S	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002424877 CA361135604 RCV000806825 rs1580946063	872	R>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs376239375 CA3432275 RCV002456504 RCV001346932 COSM3428946	873	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP
RCV002424873 RCV000805835 rs1580946285	874	K>missing	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002430098 RCV001299800 rs1766006139	877	E>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1290775003 RCV002451454 RCV001210106	884	R>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1766015674 RCV001048453 RCV003160375	889	K>Q	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA3432279 COSM122408 RCV001016274 RCV000798882 rs771903880	891	V>M	upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV002424824 CA3432283 RCV000796221 rs776317664	898	S>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000809334 RCV002424890 rs762163053 CA3432287	902	A>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002436874 rs1766027504 RCV001224678	903	M>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
rs750741242 CA3432289 RCV002433981 RCV000815220	905	S>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs756360361 RCV001016384 RCV000473731 CA3432290 RCV002496828	905	S>N	Patterned macular dystrophy 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001223194 rs1561785552 CA563498250 RCV002429947	907	I>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA361477025 rs1248704890	2	T>A		No	ClinGen TOPMed
rs1410904142 CA361477033	3	A>G		No	ClinGen gnomAD
CA361477036 rs1307799059	4	V>L		No	ClinGen gnomAD
RCV001042158 rs1755157382	5	H>Y		No	ClinVar dbSNP
TCGA novel	6	A>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001326720 rs1755158341	7	G>D		No	ClinVar dbSNP
rs1580978002 CA361477064 RCV000812215	8	N>S		No	ClinGen ClinVar Ensembl dbSNP
rs1292323689 RCV001301575 CA361477070	9	I>T		No	ClinGen ClinVar TOPMed dbSNP
rs1580978035 CA361477094	12	K>R		No	ClinGen Ensembl
CA128716440 RCV000808291 rs955840317	13	W>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001059959 rs988942117 CA128716441	15	P>R		No	ClinGen ClinVar TOPMed dbSNP
rs1755160090 RCV001048248	15	P>S		No	ClinVar dbSNP
CA3431330 rs759641978	16	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	17	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3431331 rs769832131	18	L>R		No	ClinGen ExAC gnomAD
RCV001043751 rs1755161249	19	E>*		No	ClinVar dbSNP
CA361477142 rs1580978110 RCV000817808	19	E>G		No	ClinGen ClinVar Ensembl dbSNP
RCV001320550 rs1755162650	22	T>S		No	ClinVar dbSNP
CA3431333 rs762931250	23	L>Q		No	ClinGen ExAC gnomAD
rs1472535447 CA361477170	24	A>T		No	ClinGen gnomAD
RCV001055005 rs1755163761	25	V>A		No	ClinVar dbSNP
CA3431335 RCV000792870 rs763858194	30	E>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001248702 rs1755165264	30	E>D		No	ClinVar dbSNP
rs1755165546 RCV001071044	31	P>S		No	ClinVar dbSNP
rs1755166497 RCV001297036	34	T>missing		No	ClinVar dbSNP
rs1580978232 CA361477244 RCV000794677 COSM1433409	35	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA3431362 rs754397589	38	T>N		No	ClinGen ExAC gnomAD
rs967449848 CA128716553 RCV001055995	39	L>R		No	ClinGen ClinVar Ensembl dbSNP
rs1755320989 RCV001228680	40	V>L		No	ClinVar dbSNP
rs1755321895 RCV001238688	41	N>H		No	ClinVar dbSNP
rs1755322192 RCV001068773	41	N>S		No	ClinVar dbSNP
TCGA novel	41	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764691345 CA3431363	42	T>S		No	ClinGen ExAC gnomAD
rs1162644114 CA361477300	43	N>D		No	ClinGen gnomAD
RCV001034953 rs1755324870	44	S>G		No	ClinVar dbSNP
RCV001051719 rs1755325154	44	S>R		No	ClinVar dbSNP
TCGA novel	46	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3431365 rs757666042	47	P>L		No	ClinGen ExAC gnomAD
rs1755326643 RCV001243265	48	S>P		No	ClinVar dbSNP
rs1755327366 RCV001324654	49	N>D		No	ClinVar dbSNP
CA361477345 COSM1433412 rs1308395731	49	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV001314752 rs1755328184	50	K>R		No	ClinVar dbSNP
TCGA novel	52	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1755328766 RCV001351706	52	R>T		No	ClinVar dbSNP
RCV001308360 rs1755329623	55	S>A		No	ClinVar dbSNP
RCV001052043 rs756329640 CA3431369	55	S>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361477384 rs756329640	55	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361477390 rs1245581999	56	K>M		No	ClinGen gnomAD
rs780078260 RCV001317125	58	A>G		No	ClinVar dbSNP
CA361477401 rs1291738773	58	A>S		No	ClinGen gnomAD
CA3431371 rs375006246	59	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252911927 RCV001344631 CA361477429	62	A>S		No	ClinGen ClinVar dbSNP gnomAD
RCV001204249 rs1755332073	62	A>V		No	ClinVar dbSNP
CA361477434 rs1175071018	63	A>P		No	ClinGen gnomAD
rs867244371 CA128716556	64	S>A		No	ClinGen Ensembl
CA3431373 rs774398928	64	S>F		No	ClinGen ExAC gnomAD
CA3431376 rs772061558	67	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1755335758 RCV001058072	71	N>T		No	ClinVar dbSNP
rs1755335972 RCV001226128	72	F>C		No	ClinVar dbSNP
CA128716557 rs752038382	74	E>D		No	ClinGen Ensembl
rs1580984414 RCV000818508	75	K>missing		No	ClinVar dbSNP
rs1580984443 CA361477525 RCV000797467	75	K>N		No	ClinGen ClinVar Ensembl dbSNP
rs1755336735 RCV001043739	76	G>*		No	ClinVar dbSNP
rs1755336735 RCV001325616	77	D>missing		No	ClinVar dbSNP
RCV000800151 CA361477542 rs1580984472	77	D>V		No	ClinGen ClinVar Ensembl dbSNP
rs200135015 CA3431382	80	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759125508 CA3431380	80	A>P		No	ClinGen ExAC gnomAD
rs148781132 CA361477592	82	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000808444 CA361477615 rs1580984616	84	Q>R		No	ClinGen ClinVar Ensembl dbSNP
CA361477625 rs1472421692	85	F>L		No	ClinGen TOPMed
rs756417618 CA3431388	87	K>E		No	ClinGen ExAC gnomAD
rs1755340199 RCV001303860	88	E>Q		No	ClinVar dbSNP
CA3431389 RCV001312772 rs780367865	89	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA3431390 rs749453442	90	L>F		No	ClinGen ExAC gnomAD
CA3431392 rs778857532	92	A>V		No	ClinGen ExAC gnomAD
rs748173593 CA3431393	93	A>G		No	ClinGen ExAC gnomAD
rs1240655761 CA361477679 RCV001202811	94	V>A		No	ClinGen ClinVar dbSNP gnomAD
rs1755342562 RCV001342200	95	E>G		No	ClinVar dbSNP
RCV000802931 CA361477690 rs1451287719	96	D>H		No	ClinGen ClinVar dbSNP gnomAD
rs1755344564 RCV001300800	100	Q>H		No	ClinVar dbSNP
CA3431397 rs770599506	100	Q>R		No	ClinGen ExAC gnomAD
rs1361174293 CA361477723	101	G>S		No	ClinGen gnomAD
CA3431417 rs777896797	102	D>G		No	ClinGen ExAC gnomAD
TCGA novel	103	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193479198 CA361122796	104	M>T		No	ClinGen gnomAD
CA361122789 rs1238309688	104	M>V		No	ClinGen TOPMed
CA3431419 rs746920603	106	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1758515080 RCV001241639	107	A>T		No	ClinVar dbSNP
RCV001050465 rs1758515751	108	A>V		No	ClinVar dbSNP
rs769342340 RCV000820646 CA3431422	111	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs762477632 CA361122913	112	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	119	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361123006 rs749878552 RCV000791793	121	R>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000813501 rs1581105631 CA361123038	123	N>S		No	ClinGen ClinVar Ensembl dbSNP
CA128219041 rs35788568	124	M>I		No	ClinGen Ensembl
rs765587517 RCV001050567	124	M>L		No	ClinVar dbSNP
RCV000798328 rs1581105656 CA361123093	126	R>W		No	ClinGen ClinVar Ensembl dbSNP
CA3431433 RCV001053991 rs758599826 COSM462073	129	R>*	cervix Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs758599826 CA361123152	129	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1758522927 RCV001235863	130	A>T		No	ClinVar dbSNP
RCV001035128 rs1758523143	130	A>V		No	ClinVar dbSNP
rs1581105705 RCV000810697	131	L>missing		No	ClinVar dbSNP
CA361123218 rs1407298626	132	L>F		No	ClinGen gnomAD
RCV001343135 rs1758523708	132	L>P		No	ClinVar dbSNP
rs1399488912 CA361123245	133	S>F		No	ClinGen gnomAD
rs1758526073 RCV001305988	136	T>S		No	ClinVar dbSNP
RCV001214368 rs1758527722	140	I>M		No	ClinVar dbSNP
rs377601723 CA3431439	141	L>F		No	ClinGen ESP ExAC gnomAD
rs779734367 CA3431440	142	A>T		No	ClinGen ExAC gnomAD
CA361123422 rs1370606389	142	A>V		No	ClinGen gnomAD
rs1295022308 CA361123445	143	D>V		No	ClinGen TOPMed
RCV001218568 rs1008397016 CA128219124	144	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs1290591351 CA361123475	144	M>R		No	ClinGen gnomAD
RCV001338237 rs1290591351	144	M>T		No	ClinVar dbSNP
RCV001294699 rs1758530800	147	V>I		No	ClinVar dbSNP
CA128219140 rs1015730449	149	K>R		No	ClinGen TOPMed gnomAD
CA361123655 rs1581105912 RCV000808581	150	L>S		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	150	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361123725 rs1219993763	153	Q>E		No	ClinGen TOPMed gnomAD
rs961630194 CA128219177	153	Q>H		No	ClinGen Ensembl
RCV000823485 CA361123721 rs1219993763	153	Q>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3431443 RCV000792798 rs773859235	155	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001051746 rs533573408	159	D>V		No	ClinVar dbSNP
CA361124902 RCV001048621 rs1415757253	160	G>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs150912388 CA128220905	162	L>S		No	ClinGen ESP
rs1336854183 CA361124965	163	K>E		No	ClinGen gnomAD
RCV001349472 rs1404658974	164	L>F		No	ClinVar dbSNP
CA128220912 rs778667305	169	N>H		No	ClinGen ExAC TOPMed gnomAD
RCV001321255 rs774590663	171	Q>*		No	ClinVar dbSNP
CA3431471 rs774590663	171	Q>E		No	ClinGen ExAC gnomAD
CA361125163 RCV001052877 rs774590663	171	Q>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1268137141 CA361125174	171	Q>R		No	ClinGen gnomAD
RCV001298636 rs1758895003	172	D>N		No	ClinVar dbSNP
rs761836161 CA3431472 COSM1061436	174	G>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1581119445 CA361125243 RCV000816416	174	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA361125268 rs1581119454 RCV000816459	175	I>N		No	ClinGen ClinVar Ensembl dbSNP
RCV001352454 rs1758896577	177	Y>H		No	ClinVar dbSNP
rs1221110257 CA361125336	178	K>T		No	ClinGen gnomAD
rs1758898643 RCV001207117	182	P>S		No	ClinVar dbSNP
CA361125440 rs1581119562	183	E>V		No	ClinGen Ensembl
TCGA novel	185	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581119583 CA361125472 RCV000795452	185	D>N		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	186	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001212874 rs1758900525	187	L>V		No	ClinVar dbSNP
RCV001243099 rs1758902024	189	I>*		No	ClinVar dbSNP
rs1758903087 RCV001064507	190	M>I		No	ClinVar dbSNP
rs936210314 CA128220976	190	M>T		No	ClinGen Ensembl
CA361125610 RCV001223195 rs1378674814	191	A>T		No	ClinGen ClinVar dbSNP gnomAD
CA3431479 rs778473050	192	A>G		No	ClinGen ExAC gnomAD
CA128220997 rs74648499	194	R>K		No	ClinGen Ensembl
RCV001213056 rs1581119680	195	Q>E		No	ClinVar dbSNP
rs747815829 CA128220998	195	Q>H		No	ClinGen ExAC gnomAD
RCV000806292 CA361125691 rs1581119680	195	Q>K		No	ClinGen ClinVar Ensembl dbSNP
RCV001212504 CA361125718 rs1419278064	196	Q>E		No	ClinGen ClinVar dbSNP gnomAD
rs1758906474 RCV001215377	196	Q>H		No	ClinVar dbSNP
rs199670010 CA128228915 RCV000807106	201	V>I		No	ClinGen ClinVar Ensembl dbSNP
RCV001039035 rs199670010	201	V>L		No	ClinVar dbSNP
RCV001341817 rs1760439365	202	G>D		No	ClinVar dbSNP
rs1760440516 RCV001315726	203	H>P		No	ClinVar dbSNP
rs772365627 RCV000822460 CA361129453	205	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA3431510 rs772365627	205	D>V		No	ClinGen ExAC gnomAD
rs773383379 CA3431511	206	Q>*		No	ClinGen ExAC gnomAD
rs1370136860 CA361129465	206	Q>R		No	ClinGen gnomAD
rs1005792890 CA128228940	207	M>I		No	ClinGen Ensembl
rs1760443296 RCV001306422	207	M>T		No	ClinVar dbSNP
TCGA novel	208	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162734122 CA361129491	208	A>V		No	ClinGen gnomAD
RCV001225747 rs1760444178	209	A>G		No	ClinVar dbSNP
rs201391408 RCV000791705 CA361129535	213	I>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3431515 rs759512025	214	L>P		No	ClinGen ExAC gnomAD
rs1760445854 RCV001320158	217	N>missing		No	ClinVar dbSNP
rs1213476232 CA361129581	217	N>D		No	ClinGen Ensembl
rs1489665450 CA361129586	217	N>S		No	ClinGen gnomAD
rs1458647108 CA361129614	220	I>V		No	ClinGen TOPMed gnomAD
CA361129627 rs1418040582	221	L>F		No	ClinGen TOPMed
CA3431525 RCV001213388 rs755524897	222	Y>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001051785 CA361129677 rs1475281622	226	Q>E		No	ClinGen ClinVar TOPMed dbSNP
CA361129681 rs1480075332	226	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766853123 CA128228997	230	Q>L		No	ClinGen Ensembl
rs1581167657 CA361129737	231	H>P		No	ClinGen Ensembl
rs771066942 CA3431530	233	D>G		No	ClinGen ExAC gnomAD
rs992791147 CA128229027	234	V>A		No	ClinGen Ensembl
rs762843334 CA3431535	236	A>V		No	ClinGen ExAC gnomAD
CA361129832 rs1296658237 RCV001245845	240	N>D		No	ClinGen ClinVar dbSNP gnomAD
rs749980248 CA3431540	240	N>T		No	ClinGen ExAC TOPMed gnomAD
RCV001040326 rs755543443	242	D>H		No	ClinVar dbSNP
CA3431541 rs755543443	242	D>N		No	ClinGen ExAC gnomAD
CA3431544 rs758857870	243	L>Q		No	ClinGen ExAC gnomAD
rs765813825 CA3431543	243	L>V		No	ClinGen ExAC TOPMed gnomAD
rs201899693 RCV001327789	244	I>M		No	ClinVar dbSNP
RCV001059945 rs1271760767 CA361129879	244	I>T		No	ClinGen ClinVar TOPMed dbSNP
rs781342935 RCV001303773 CA361129897	246	K>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001338807 rs1760460898	247	Q>missing		No	ClinVar dbSNP
rs200873942 CA3431549	250	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3431550 rs769727520	251	A>T		No	ClinGen ExAC gnomAD
rs775541936 CA3431551	251	A>V		No	ClinGen ExAC gnomAD
RCV001215220 rs1760462170	252	V>I		No	ClinVar dbSNP
CA3431553 rs768635669	253	T>K		No	ClinGen ExAC gnomAD
rs1760462669 RCV001339211	254	G>V		No	ClinVar dbSNP
RCV001307768 rs1760463089	255	I>L		No	ClinVar dbSNP
RCV001237487 rs1760463089	255	I>V		No	ClinVar dbSNP
rs1407898928 CA361129967 RCV001351008	257	N>H		No	ClinGen ClinVar TOPMed dbSNP
RCV001229834 rs1760465096	260	Q>*		No	ClinVar dbSNP
rs772713589 CA3431557	263	A>D		No	ClinGen ExAC TOPMed gnomAD
CA361130038 rs772713589 RCV001324905	263	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361130050 rs1380857011	264	S>L		No	ClinGen gnomAD
RCV000804207 rs1581168018	265	D>missing		No	ClinVar dbSNP
rs201610640 CA128229158	268	S>P		No	ClinGen 1000Genomes
CA361130104 rs1375425400	269	Q>R		No	ClinGen gnomAD
CA361130120 rs201055659	270	H>L		No	ClinGen 1000Genomes gnomAD
CA128229164 rs201055659	270	H>R		No	ClinGen 1000Genomes gnomAD
rs1216349400 CA361130132	271	Q>*		No	ClinGen gnomAD
CA361130151 rs1196121090	272	G>D		No	ClinGen TOPMed
CA3431564 rs751942119	273	G>A		No	ClinGen ExAC gnomAD
RCV001224880 rs751942119	273	G>E		No	ClinVar dbSNP
RCV001239095 rs1760472413	274	G>missing		No	ClinVar dbSNP
rs1243048088 CA361130169	274	G>R		No	ClinGen gnomAD
rs781432848 CA3431566	275	G>E		No	ClinGen ExAC gnomAD
RCV001057982 rs1760473602	275	G>R		No	ClinVar dbSNP
TCGA novel	276	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000799434 CA361130275 rs1581168265	281	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA3431567 rs750584026	283	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756271500 RCV001216814 CA361130337	285	F>L		No	ClinGen ExAC gnomAD ClinVar dbSNP
rs779989605	286	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs779989605 CA361130354	286	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1226995974 CA361130630	288	Q>H		No	ClinGen TOPMed
CA361130626 rs1300943167	288	Q>R		No	ClinGen gnomAD
rs377651419 CA3431583	289	I>V		No	ClinGen ESP ExAC gnomAD
rs1371136695 CA361130663	291	V>A		No	ClinGen gnomAD
RCV001303121 rs1760843847	292	D>V		No	ClinVar dbSNP
rs1760844159 RCV001296033	293	P>*		No	ClinVar dbSNP
rs1760844334 RCV001241240	293	P>L		No	ClinVar dbSNP
rs1315620177 CA361130695	294	L>S		No	ClinGen gnomAD
rs761908860 CA128231133	297	S>N		No	ClinGen Ensembl
RCV000797240 CA361130739 rs1581178228	298	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs369518072 CA361130772	300	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1760845759 RCV001246119	301	F>missing		No	ClinVar dbSNP
rs1760847242 RCV001247248	301	F>C		No	ClinVar dbSNP
rs35879875 CA128231170	302	R>K		No	ClinGen Ensembl
RCV000824055 rs1581178341	309	L>missing		No	ClinVar dbSNP
rs1581178351 CA361130877 RCV000813225	311	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA3431594 rs746761844	311	S>T		No	ClinGen ExAC
rs1760849989 RCV001317214	313	I>V		No	ClinVar dbSNP
CA3431596 rs200854132	314	S>G		No	ClinGen 1000Genomes ExAC gnomAD
RCV000800337 CA361130939 rs1161812904	316	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs1760852256 RCV001070807	323	S>P		No	ClinVar dbSNP
rs1581178471 CA361131033 RCV000817529	325	T>K		No	ClinGen ClinVar Ensembl dbSNP
RCV000803453 rs1581178471 CA361131037 COSM204788	325	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001224844 rs1454089908 CA361131043	326	R>H		No	ClinGen ClinVar dbSNP gnomAD
RCV001044169 rs1581178503	328	D>Y		No	ClinVar dbSNP
CA128231293 rs371052704 COSM239475	332	R>*	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs371052704 CA128231288	332	R>G		No	ClinGen ESP TOPMed gnomAD
CA361131106 rs1316182048	333	I>L		No	ClinGen gnomAD
RCV001344470 rs1760855499	334	V>M		No	ClinVar dbSNP
rs1760855901 RCV001317004	335	A>V		No	ClinVar dbSNP
rs1760856291 RCV001320773	336	E>D		No	ClinVar dbSNP
rs1760856538 RCV001235309	337	C>missing		No	ClinVar dbSNP
RCV001313988 rs1760856868	340	V>L		No	ClinVar dbSNP
rs1760857124 RCV001071669	341	R>C		No	ClinVar dbSNP
RCV000801476 CA361131214 rs1581178631	342	Q>R		No	ClinGen ClinVar Ensembl dbSNP
rs1561568512 CA361131227	343	A>V		No	ClinGen Ensembl
TCGA novel	350	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581178714 CA361131321 RCV000815347	352	M>V		No	ClinGen ClinVar Ensembl dbSNP
RCV001315029 rs758284033	353	G>C		No	ClinVar dbSNP
rs758284033 CA3431609 RCV000804918	353	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA361132454 rs1344832755	356	G>R		No	ClinGen gnomAD
RCV001057098 rs1753991365	360	R>missing		No	ClinVar dbSNP
RCV001230394 rs1753992305	360	R>G		No	ClinVar dbSNP
rs1753992786 RCV001231740	361	S>I		No	ClinVar dbSNP
RCV001043169 rs1753992786	361	S>N		No	ClinVar dbSNP
rs1581474079 RCV000800084 CA361132516	362	D>G		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	362	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215283244 CA361132523	363	A>E		No	ClinGen gnomAD
rs1353922569 CA361132520	363	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1215283244 RCV001062833	363	A>V		No	ClinVar dbSNP
rs761743181 CA3431860 RCV001056197	365	N>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001341818 rs1753999575	370	K>T		No	ClinVar dbSNP
CA3431861 rs767384077	371	M>I		No	ClinGen ExAC gnomAD
TCGA novel	375	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001233835 rs1754001022	375	T>I		No	ClinVar dbSNP
RCV001245024 rs1581474328	377	D>E		No	ClinVar dbSNP
CA3431862 RCV000807411 rs773022966	379	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1394423178 CA361132974	388	D>H		No	ClinGen gnomAD
CA361132973 rs1394423178	388	D>N		No	ClinGen gnomAD
CA361132983 rs1460381137	389	H>N		No	ClinGen gnomAD
CA3431879 rs772037860	396	E>K		No	ClinGen ExAC gnomAD
RCV001299569 rs1754345735	404	L>S		No	ClinVar dbSNP
CA361133076 rs1258629775	404	L>V		No	ClinGen gnomAD
rs143830504 CA3431884	406	E>D		No	ClinGen ESP ExAC
TCGA novel	407	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361133133 rs1248721633	412	N>S		No	ClinGen gnomAD
rs1754351069 RCV001298421	414	K>E		No	ClinVar dbSNP
CA361133153 rs1581484370	415	E>K		No	ClinGen Ensembl
RCV001054842 rs1426385729	416	V>missing		No	ClinVar dbSNP
rs150649788 CA128238225	417	K>Q		No	ClinGen ESP
RCV001043822 rs1754355304	421	Q>*		No	ClinVar dbSNP
rs199965886 CA128238238	423	F>L		No	ClinGen 1000Genomes
CA361133225 rs1289952917	425	E>A		No	ClinGen TOPMed
CA3431890 rs756567640	426	H>R		No	ClinGen ExAC gnomAD
rs1754360812 RCV001342024	427	A>T		No	ClinVar dbSNP
CA3431891 rs780285551 RCV001069782	428	N>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1167873878 CA361133268	431	I>T		No	ClinGen gnomAD
rs1397271124	432	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001316678 rs1754366213	432	E>G		No	ClinVar dbSNP
rs779166169 CA3431912	434	A>D		No	ClinGen ExAC gnomAD
rs779166169 CA361135870 RCV000802471	434	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs747066634 CA3431916	438	C>S		No	ClinGen ExAC gnomAD
rs747066634 CA3431917	438	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	440	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001065140 rs368676572 CA3431919	440	I>V		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA3431920 rs769696803	443	N>I		No	ClinGen ExAC TOPMed gnomAD
RCV001053720 rs1758714268	444	E>missing		No	ClinVar dbSNP
rs1758715728 RCV001057025	445	E>D		No	ClinVar dbSNP
rs1758716428 RCV001300772	446	G>D		No	ClinVar dbSNP
rs1344157927 CA361135954	447	V>A		No	ClinGen gnomAD
CA361135963 rs921350297	448	K>N		No	ClinGen Ensembl
CA3431923 rs768295138	449	L>R		No	ClinGen ExAC gnomAD
rs372832887 CA3431925	452	M>L		No	ClinGen ESP ExAC gnomAD
RCV001317930 CA361135994 rs777109167	454	A>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361136010 RCV000820860 rs1581613999	456	Q>H		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	459	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338186632 CA361136035 COSM1721769	460	L>F	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
RCV000818179 CA361136037 rs1581614081	460	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs763349368 CA3431951	465	I>S		No	ClinGen ExAC gnomAD
rs1231981158 CA361137087	470	A>T		No	ClinGen gnomAD
RCV001223621 rs1762099256	473	A>G		No	ClinVar dbSNP
CA128260468 rs1022331992	475	P>L		No	ClinGen TOPMed
rs1022331992 RCV001225128	475	P>Q		No	ClinVar dbSNP
rs1183219056 CA361137148	475	P>S		No	ClinGen gnomAD
rs1762102504 RCV001298780	476	Q>P		No	ClinVar dbSNP
rs1314978664 CA361137196	482	E>*		No	ClinGen TOPMed
TCGA novel	482	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3431956 rs750470900 RCV000808792	484	M>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA361137229 rs1285880378	486	L>H		No	ClinGen TOPMed
RCV001349343 rs1762110873	489	E>A		No	ClinVar dbSNP
rs749135177 CA3431959	491	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000823205 rs778497800 CA3431961	496	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA3431962 rs747842444	500	D>N		No	ClinGen ExAC gnomAD
CA3431964 rs772733704	501	A>V		No	ClinGen ExAC gnomAD
CA361137346 rs1257768986	503	D>E		No	ClinGen gnomAD
CA3431965 rs746486077	504	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	504	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770329095 RCV001043368	505	I>M		No	ClinVar dbSNP
RCV000803294 rs1580800323 CA361137359	505	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA3431967 rs775958172	506	T>A		No	ClinGen ExAC gnomAD
RCV001319419 rs1762131167	507	S>C		No	ClinVar dbSNP
rs1343841644 CA361137381	509	D>H		No	ClinGen TOPMed
rs1580800530 RCV000810386 CA361137409	512	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs1762138459 RCV001350754	515	S>*		No	ClinVar dbSNP
TCGA novel	515	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1763594018 RCV001226990	516	E>D		No	ClinVar dbSNP
rs1763594477 RCV001312481	517	N>missing		No	ClinVar dbSNP
TCGA novel	525	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001344426 rs1763595994	525	K>R		No	ClinVar dbSNP
rs760904270 CA3431993	526	C>S		No	ClinGen ExAC gnomAD
CA361131781 rs1335925565	532	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	534	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3431997 rs765048202	535	V>A		No	ClinGen ExAC gnomAD
rs1302005886 RCV001216256 CA361131824	538	L>V		No	ClinGen ClinVar dbSNP gnomAD
rs547329141 CA3431998	539	D>H		No	ClinGen 1000Genomes ExAC
RCV001212236 rs1763606613	541	T>I		No	ClinVar dbSNP
TCGA novel	543	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1763607617 RCV001306894	544	A>V		No	ClinVar dbSNP
CA361131865 rs1060502220	545	I>F		No	ClinGen gnomAD
RCV001240658 rs1763611433	547	G>V		No	ClinVar dbSNP
RCV001318181 CA361131882 rs1252185833	548	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001321585 rs1763613886	551	R>Q		No	ClinVar dbSNP
rs1763613333 RCV001037114	551	R>W		No	ClinVar dbSNP
rs1580855344 CA361131907	552	V>G		No	ClinGen Ensembl
CA128217038 rs1012760007	553	I>T		No	ClinGen TOPMed gnomAD
rs1763615247 RCV001342938	553	I>V		No	ClinVar dbSNP
rs1763616190 RCV001294952	554	H>R		No	ClinVar dbSNP
rs769235447 CA361131952	560	M>V		No	ClinGen ExAC TOPMed
CA3432006 rs779256563	562	N>H		No	ClinGen ExAC gnomAD
rs1763626572 RCV001308145	572	V>I		No	ClinVar dbSNP
rs1580855864 CA361132046	573	L>R		No	ClinGen Ensembl
CA3432011 rs201451671	574	E>K		No	ClinGen ExAC gnomAD
rs1763630609 RCV001043072	578	L>P		No	ClinVar dbSNP
CA361132080 rs1466982820	579	L>F		No	ClinGen gnomAD
rs1203628463	583	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001045639 rs1763763066	583	V>G		No	ClinVar dbSNP
rs1352998855 CA361132126	584	M>T		No	ClinGen gnomAD
CA361132132 rs1383896601	585	P>A		No	ClinGen gnomAD
RCV001294489 rs1383896601	585	P>S		No	ClinVar dbSNP
CA128217473 rs201494088	587	F>L		No	ClinGen 1000Genomes
rs1273174561	587	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001229912 rs926691029 CA128217478	590	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs775570045 CA3432033	592	E>A		No	ClinGen ExAC gnomAD
rs1580861226 CA361132199	595	V>A		No	ClinGen Ensembl
CA3432036 rs774165453	599	S>R		No	ClinGen ExAC gnomAD
CA361132223 RCV000812019 rs1580861345	599	S>T		No	ClinGen ClinVar Ensembl dbSNP
rs892478752 CA128217558	603	A>D		No	ClinGen Ensembl
rs1172595924 CA361132244	603	A>T		No	ClinGen gnomAD
CA3432041 rs765820297	604	Q>L		No	ClinGen ExAC gnomAD
rs1384107535 CA361132295	610	E>*		No	ClinGen gnomAD
CA361132316 rs1561758576 RCV001212014	613	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA3432044 rs778390683	614	A>V		No	ClinGen ExAC gnomAD
CA3432046 rs760220853	616	R>C		No	ClinGen ExAC gnomAD
RCV001214613 rs1763792661	619	Y>H		No	ClinVar dbSNP
rs1580862235 CA361132369	621	G>D		No	ClinGen Ensembl
rs749328559 CA3432051	623	R>Q		No	ClinGen ExAC gnomAD
rs1561758858 RCV001239525 CA361132380	623	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1763798599 RCV001307058	627	K>R		No	ClinVar dbSNP
rs1580862491 RCV000793320 CA361132448	631	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs1455520969 CA361132436	631	M>V		No	ClinGen TOPMed
rs1253558458 RCV001306751	633	R>S		No	ClinVar dbSNP
rs1561758996 CA361132465	633	R>W		No	ClinGen Ensembl
rs749421689 CA3432070	635	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	636	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1060502221 CA361132686	637	E>*		No	ClinGen gnomAD
rs1060502221 CA16611824 RCV001365232	637	E>K		No	ClinGen ClinVar dbSNP gnomAD
RCV001233563 rs1764796614	640	D>*		No	ClinVar dbSNP
CA361132742 rs1580895924 RCV000802610	644	E>G		No	ClinGen ClinVar Ensembl dbSNP
CA3432073 rs748048489	645	T>I		No	ClinGen ExAC gnomAD
rs1470787021 CA361132758 RCV000799340	646	E>D		No	ClinGen ClinVar TOPMed dbSNP
RCV000817990 CA361132803 rs1580896125	653	R>G		No	ClinGen ClinVar Ensembl dbSNP
rs1764802060 RCV001034755	653	R>T		No	ClinVar dbSNP
CA361132823 rs564390551 RCV000807978	656	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA128220962 rs956359311	659	E>K		No	ClinGen Ensembl
rs1764808534 RCV001221315	661	D>E		No	ClinVar dbSNP
rs1021590336 CA128220981	661	D>N		No	ClinGen gnomAD
CA361132867 rs1258165471	661	D>V		No	ClinGen gnomAD
rs1021590336 CA361132861	661	D>Y		No	ClinGen gnomAD
CA10582403 RCV001367578 rs878854469	664	I>R		No	ClinGen ClinVar Ensembl dbSNP
RCV001037474 rs878854469	664	I>T		No	ClinVar dbSNP
rs1181915653 RCV001295219	666	G>missing		No	ClinVar dbSNP
rs1764812403 RCV001211628	667	Q>R		No	ClinVar dbSNP
rs1180015219 CA361132958	670	R>Q		No	ClinGen gnomAD
rs773758649 CA3432106	671	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1363433371 RCV001047075	672	I>M		No	ClinVar dbSNP
RCV001294331 rs1765079997	678	Q>E		No	ClinVar dbSNP
rs755223739 CA3432110	678	Q>P		No	ClinGen ExAC gnomAD
rs1580907907 CA361133373	682	A>V		No	ClinGen Ensembl
CA128221958 rs1035466981	683	K>R		No	ClinGen Ensembl
CA3432112 rs369619831	685	A>E		No	ClinGen ESP ExAC gnomAD
CA3432114 rs777634448	688	V>M		No	ClinGen ExAC gnomAD
rs1246032350 CA361133421	690	S>G		No	ClinGen gnomAD
rs1580908282 RCV000792187 CA361133457	694	E>A		No	ClinGen ClinVar Ensembl dbSNP
rs1414571764 RCV000822707 CA361133471	696	S>N		No	ClinGen ClinVar TOPMed dbSNP
rs1580908424 CA361133495	699	D>E		No	ClinGen Ensembl
CA361133537 rs1476911901	705	W>*		No	ClinGen TOPMed
rs567388162 CA3432118	706	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1477757426 CA361133624	718	Q>E		No	ClinGen gnomAD
TCGA novel	722	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1765095728 RCV001304681	725	E>D		No	ClinVar dbSNP
rs1765095247 RCV001229691	725	E>K		No	ClinVar dbSNP
rs1765096205 RCV001234290	726	M>R		No	ClinVar dbSNP
rs1765097119 RCV001343574	727	T>A		No	ClinVar dbSNP
RCV001296123 rs1765096685	728	D>missing		No	ClinVar dbSNP
rs1401839892 CA361133729	731	R>G		No	ClinGen TOPMed gnomAD
COSM1061468 CA361133731 rs1294176302	731	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361133772 rs1233799861	736	L>F		No	ClinGen gnomAD
RCV001054690 rs1765148631	737	K>R		No	ClinVar dbSNP
TCGA novel	737	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001211904 rs1765149617	738	N>S		No	ClinVar dbSNP
rs1263577703 CA361133794	739	T>A		No	ClinGen gnomAD
CA128222255 rs377649610	744	S>N		No	ClinGen gnomAD
rs1765153405 RCV001325908	744	S>R		No	ClinVar dbSNP
rs770197152 RCV001317470	747	K>R		No	ClinVar dbSNP
rs770197152 CA3432144	747	K>T		No	ClinGen ExAC gnomAD
rs775656419 CA3432145	752	A>V		No	ClinGen ExAC gnomAD
RCV000794957 rs1189259615 CA361133943	761	R>C		No	ClinGen ClinVar dbSNP gnomAD
CA361133944 rs1368309620 COSM1495990	761	R>H	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1765161404 RCV001324061	762	T>missing		No	ClinVar dbSNP
rs1313093200 CA361133951	762	T>S		No	ClinGen TOPMed
rs1561779762 CA361134280	769	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1561779762 CA361134282	769	D>Y		No	ClinGen Ensembl
TCGA novel	772	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361134303 rs1295597777	772	C>Y		No	ClinGen gnomAD
RCV001236958 rs1765608829	773	K>E		No	ClinVar dbSNP
rs1580929868 CA361134328	775	D>A		No	ClinGen Ensembl
rs1580929904 RCV001320073	775	D>E		No	ClinVar dbSNP
TCGA novel	776	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361134355 rs767711515 RCV000792377	779	Y>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1207377565 CA361134362 RCV001318595	781	Q>E		No	ClinGen ClinVar dbSNP gnomAD
RCV001316063 rs75050399	781	Q>H		No	ClinVar dbSNP
rs1274345685 CA361134371 RCV001047381 COSM204814	782	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
rs1204441821 RCV001211276	784	A>S		No	ClinVar dbSNP
COSM735524 CA361134381 rs1204441821	784	A>T	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1765620317 RCV001201809	786	Y>F		No	ClinVar dbSNP
RCV000818249 rs754714318 CA361134437	791	N>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000798244 rs1580930647	799	E>missing		No	ClinVar dbSNP
rs757984994 CA361134510	801	Q>H		No	ClinGen ExAC TOPMed gnomAD
RCV001298035 rs1765626555	802	N>Y		No	ClinVar dbSNP
RCV001224535 rs1765627973	804	G>S		No	ClinVar dbSNP
rs1580930995 CA361134541	806	E>G		No	ClinGen Ensembl
rs1765630072 RCV001061581	807	L>V		No	ClinVar dbSNP
RCV001318086 rs1765631482	811	G>A		No	ClinVar dbSNP
rs917387568 CA128225374	815	A>T		No	ClinGen TOPMed gnomAD
rs758917236 CA3432248	819	I>N		No	ClinGen ExAC gnomAD
RCV000792183 rs1580943823	821	A>PCP*		No	ClinVar dbSNP
rs1580943823 CA915942580	822	A>P		No	ClinGen Ensembl
TCGA novel	825	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580944149 RCV000794097 CA361135190	831	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA3432251 rs757458065	831	Q>R		No	ClinGen ExAC gnomAD
CA128225438 rs1011175430	833	V>M		No	ClinGen Ensembl
rs924303936 RCV001320395 CA128225442	835	A>T		No	ClinGen ClinVar TOPMed dbSNP
CA361135292 rs1245937649	839	A>T		No	ClinGen TOPMed gnomAD
rs1765980974 RCV001337671	840	S>C		No	ClinVar dbSNP
rs1765983475 RCV001053947	842	K>T		No	ClinVar dbSNP
TCGA novel	843	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189986841 CA361135344	843	Y>H		No	ClinGen gnomAD
RCV001070524 rs1765985574	846	S>A		No	ClinVar dbSNP
CA361135413 rs1561784473	847	Q>H		No	ClinGen Ensembl
rs575417154 RCV001313013	848	G>D		No	ClinVar dbSNP
rs1158956721 CA361135418	848	G>S		No	ClinGen TOPMed gnomAD
rs575417154 CA128225483	848	G>V		No	ClinGen Ensembl
CA361135432 rs1274447948	849	M>T		No	ClinGen gnomAD
rs776231900 CA3432265	849	M>V		No	ClinGen ExAC gnomAD
RCV001220043 CA361135450 rs1213017578	850	A>V		No	ClinGen ClinVar TOPMed dbSNP
CA3432266 rs763581331 COSM3946881	851	S>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV001219525 CA361135473 rs1580945305	853	N>H		No	ClinGen ClinVar Ensembl dbSNP
rs374540412 CA3432270	853	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245307813 CA361135479	854	L>F		No	ClinGen TOPMed
RCV001349085 rs1765994387	856	A>V		No	ClinVar dbSNP
TCGA novel	859	W>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290158082 RCV000814212 CA361135526	861	M>V		No	ClinGen ClinVar dbSNP gnomAD
CA361135547 rs1325475536 RCV001222887	863	A>V		No	ClinGen ClinVar TOPMed dbSNP
CA128225556 rs982751471	870	V>L		No	ClinGen Ensembl
rs1266085029 RCV000821978	874	K>missing		No	ClinVar dbSNP
rs201312255 CA128225572	874	K>E		No	ClinGen 1000Genomes
RCV000805346 rs1580946185	876	D>missing		No	ClinVar dbSNP
RCV001326710 rs1766006565	877	E>missing		No	ClinVar dbSNP
rs1580946401 RCV000804856	879	Q>missing		No	ClinVar dbSNP
rs758854772 CA128225581	880	T>I		No	ClinGen Ensembl
rs758854772 RCV001242434	880	T>S		No	ClinVar dbSNP
CA3432276 rs754912563	881	K>N		No	ClinGen ExAC gnomAD
rs1766009252 RCV001347659	881	K>R		No	ClinVar dbSNP
COSM1433440 rs1451142725 CA361135692	884	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1290775003 CA361135690	884	R>W		No	ClinGen TOPMed gnomAD
rs1196787444 CA361135695	885	A>T		No	ClinGen gnomAD
rs1766013432 RCV001039040	886	S>missing		No	ClinVar dbSNP
rs1580946793 RCV001341122	887	Q>*		No	ClinVar dbSNP
COSM1186842 rs1580946793 RCV000813706 CA361135707	887	Q>E	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs528674508 CA3432278	890	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs973328870 CA128225626 RCV000819362	893	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000806663 rs1580947045 CA361135766	895	Q>R		No	ClinGen ClinVar Ensembl dbSNP
RCV001299214 CA3432286 rs774921598	899	E>D		No	ClinVar dbSNP ClinGen ExAC gnomAD
rs764563953 RCV001044819	899	E>K		No	ClinVar dbSNP
CA3432285 RCV001318318 rs764563953	899	E>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1766025064 RCV001222004	901	K>R		No	ClinVar dbSNP
rs1766025586 RCV001246588	902	A>missing		No	ClinVar dbSNP

No associated diseases with P35221

3 regional properties for P35221

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	17 - 89	IPR004014
ptm	P-type ATPase, phosphorylation site	333 - 339	IPR018303
domain	P-type ATPase, haloacid dehalogenase domain	313 - 641	IPR044492

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cell junction, adherens junction Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cell junction Cytoplasm Nucleus	Found at cell-cell boundaries and probably at cell-matrix boundaries
PANTHER Family	PTHR18914	ALPHA CATENIN
PANTHER Subfamily	PTHR18914:SF24	CATENIN ALPHA-1
PANTHER Protein Class	non-motor actin binding protein
PANTHER Pathway Category	Alzheimer disease-presenilin pathway alpha-catenin Wnt signaling pathway alpha-catenin Cadherin signaling pathway alpha-catenin

14 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
catenin complex	Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
flotillin complex	A protein complex that contains flotillin-1 and flotillin-2, and may contain associated proteins. Flotillins associate into membrane microdomains resembling caveolae.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
intercalated disc	A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
zonula adherens	A cell-cell adherens junction which forms a continuous belt near the apex of epithelial cells.

8 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
beta-catenin binding	Binding to a catenin beta subunit.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
gamma-catenin binding	Binding to catenin complex gamma subunit.
identical protein binding	Binding to an identical protein or proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
vinculin binding	Binding to vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane.

27 GO annotations of biological process

Name	Definition
actin filament 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 comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
apical junction assembly	The formation of an apical junction, a functional unit located near the cell apex at the points of contact between epithelial cells composed of the tight junction, the zonula adherens junction and the desmosomes, by the aggregation, arrangement and bonding together of its constituents.
axon regeneration	The regrowth of axons following their loss or damage.
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.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cellular response to indole-3-methanol	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an indole-3-methanol stimulus.
epithelial cell-cell adhesion	The attachment of an epithelial cell to another epithelial cell via adhesion molecules.
establishment or maintenance of cell polarity	Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
extrinsic apoptotic signaling pathway in absence of ligand	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
gap junction assembly	Assembly of gap junctions, which are found in most animal tissues, and serve as direct connections between the cytoplasms of adjacent cells. They provide open channels through the plasma membrane, allowing ions and small molecules (less than approximately a thousand daltons) to diffuse freely between neighboring cells, but preventing the passage of proteins and nucleic acids.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
negative regulation of cell motility	Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility.
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
negative regulation of integrin-mediated signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of integrin-mediated signaling pathway.
negative regulation of neuroblast proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of the proliferation of neuroblasts.
negative regulation of protein localization to nucleus	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
ovarian follicle development	The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure.
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
positive regulation of smoothened signaling pathway	Any process that activates or increases the frequency, rate or extent of smoothened signaling.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
response to estrogen	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MHM6	CTNNA1	Catenin alpha-1	Bos taurus (Bovine)	SS
P12003	VCL	Vinculin	Gallus gallus (Chicken)	EV
P30997	CTNNA2	Catenin alpha-2	Gallus gallus (Chicken)	SS
P35220	alpha-Cat	Catenin alpha	Drosophila melanogaster (Fruit fly)	SS
P18206	VCL	Vinculin	Homo sapiens (Human)	SS
Q9UI47	CTNNA3	Catenin alpha-3	Homo sapiens (Human)	SS
P26232	CTNNA2	Catenin alpha-2	Homo sapiens (Human)	SS
Q61301	Ctnna2	Catenin alpha-2	Mus musculus (Mouse)	EV
Q64727	Vcl	Vinculin	Mus musculus (Mouse)	SS
Q65CL1	Ctnna3	Catenin alpha-3	Mus musculus (Mouse)	EV
P26231	Ctnna1	Catenin alpha-1	Mus musculus (Mouse)	EV
P26234	VCL	Vinculin	Sus scrofa (Pig)	SS
P85972	Vcl	Vinculin	Rattus norvegicus (Rat)	SS
P90947	hmp-1	Alpha-catenin-like protein hmp-1	Caenorhabditis elegans	SS
A4IGI7	ctnna2	Catenin alpha-2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
B7ZC77	Ctnna2	Catenin alpha-2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MTAVHAGNIN	FKWDPKSLEI	RTLAVERLLE	PLVTQVTTLV	NTNSKGPSNK	KRGRSKKAHV
70	80	90	100	110	120
LAASVEQATE	NFLEKGDKIA	KESQFLKEEL	VAAVEDVRKQ	GDLMKAAAGE	FADDPCSSVK
130	140	150	160	170	180
RGNMVRAARA	LLSAVTRLLI	LADMADVYKL	LVQLKVVEDG	ILKLRNAGNE	QDLGIQYKAL
190	200	210	220	230	240
KPEVDKLNIM	AAKRQQELKD	VGHRDQMAAA	RGILQKNVPI	LYTASQACLQ	HPDVAAYKAN
250	260	270	280	290	300
RDLIYKQLQQ	AVTGISNAAQ	ATASDDASQH	QGGGGGELAY	ALNNFDKQII	VDPLSFSEER
310	320	330	340	350	360
FRPSLEERLE	SIISGAALMA	DSSCTRDDRR	ERIVAECNAV	RQALQDLLSE	YMGNAGRKER
370	380	390	400	410	420
SDALNSAIDK	MTKKTRDLRR	QLRKAVMDHV	SDSFLETNVP	LLVLIEAAKN	GNEKEVKEYA
430	440	450	460	470	480
QVFREHANKL	IEVANLACSI	SNNEEGVKLV	RMSASQLEAL	CPQVINAALA	LAAKPQSKLA
490	500	510	520	530	540
QENMDLFKEQ	WEKQVRVLTD	AVDDITSIDD	FLAVSENHIL	EDVNKCVIAL	QEKDVDGLDR
550	560	570	580	590	600
TAGAIRGRAA	RVIHVVTSEM	DNYEPGVYTE	KVLEATKLLS	NTVMPRFTEQ	VEAAVEALSS
610	620	630	640	650	660
DPAQPMDENE	FIDASRLVYD	GIRDIRKAVL	MIRTPEELDD	SDFETEDFDV	RSRTSVQTED
670	680	690	700	710	720
DQLIAGQSAR	AIMAQLPQEQ	KAKIAEQVAS	FQEEKSKLDA	EVSKWDDSGN	DIIVLAKQMC
730	740	750	760	770	780
MIMMEMTDFT	RGKGPLKNTS	DVISAAKKIA	EAGSRMDKLG	RTIADHCPDS	ACKQDLLAYL
790	800	810	820	830	840
QRIALYCHQL	NICSKVKAEV	QNLGGELVVS	GVDSAMSLIQ	AAKNLMNAVV	QTVKASYVAS
850	860	870	880	890	900
TKYQKSQGMA	SLNLPAVSWK	MKAPEKKPLV	KREKQDETQT	KIKRASQKKH	VNPVQALSEF

KAMDSI