AiPD: Autoinhibited Protein Database

Q9HC29

Gene name	NOD2 (CARD15, IBD1)
Protein name	Nucleotide-binding oligomerization domain-containing protein 2
Names	Caspase recruitment domain-containing protein 15, Inflammatory bowel disease protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64127
EC number
Protein Class	NACHT, LRR AND CARD DOMAINS-CONTAINING (PTHR24106)

Descriptions

NOD2, a NOD-like receptor (NLR), is an intracellular sensor of bacterial muramyl dipeptide (MDP) that promotes secretion of the proinflammatory cytokine IL-1β. NOT2 through its N-terminal caspase recruitment domain directly binds and activates caspase-1 to trigger IL-1β processing and secretion in MDP-stimulated macrophages, whereas the C-terminal leucine-rich repeats (LRR) of NOD2 prevent caspase-1 activation in non-stimulated cells. Removal of the LRR rendered NOD2 a constitutive activator of pro-IL-1β processing and caspase-1.

Autoinhibitory domains (AIDs)

Target domain	26-218 (CARD domains)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

786-1009 (Leucine-rich repeats)

Target domain

26-218 (CARD domains)

Relief mechanism

Partner binding (Binding with NALP1 and caspase-1)

Assay

Deletion assay

Accessory elements

No accessory elements

References

Hsu LC et al. (2008) "A NOD2-NALP1 complex mediates caspase-1-dependent IL-1beta secretion in response to Bacillus anthracis infection and muramyl dipeptide", Proceedings of the National Academy of Sciences of the United States of America, 105, 7803-8

Autoinhibited structure

Activated structure

1 structures for Q9HC29

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HC29-F1	Predicted				AlphaFoldDB

952 variants for Q9HC29

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000638039 rs765406921	1	M>T	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA281248056 rs976567823 RCV000638059	3	E>Q	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA395865277 rs1567380372 RCV000705663	35	Q>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000084075 CA150175 rs104895487	38	R>M	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8051203 RCV000533853 rs200089552	43	E>K	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000258045 rs34936594 VAR_036871 CA8051231	81	L>V	Behcet disease [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8051234 rs374128251 RCV000698531	87	R>C	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000778464 rs761449474 CA8051241	93	W>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000638053 CA8051250 rs202052365	105	A>V	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_073228 rs104895468 CA150330 RCV000084133	113	D>N	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000703634 rs1567381106	137	H>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs34684955 VAR_012665 CA8051275	140	A>T	IBD1; also found in patients with ulcerative colitis; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_012666 rs104895420 RCV000084135 CA150336	157	W>R	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA281250492 rs150996156 COSM1239612 RCV000638046	159	R>Q	oesophagus Blau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD
RCV000704742 rs143080077 CA8051336	209	P>S	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000638040 CA8051377 rs369098290	233	Q>P	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_012668 CA150339 rs104895422	235	R>C	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000638055 CA395867405 rs1001861018	238	S>C	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA150342 rs104895423 VAR_012669	248	L>R	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001198645 rs1437917228	277	G>D	Susceptibility to Yao syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001218599 rs1964431434	288	L>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA150345 VAR_012672 rs104895424 RCV000084139	291	D>N	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs104895425 VAR_012673 CA150348	294	T>S	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs104895426 RCV000084141 VAR_012674 CA150351	301	A>V	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs104895427 CA150354 VAR_012675 COSM1172338	311	R>W	oesophagus IBD1; also found in patients with ulcerative colitis; unknown pathological significance [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000700396 CA117018 RCV000004958 VAR_012676 RCV000482720 rs104895461	334	R>Q	BLAUS; somatic mosaicism in 4.9% to 11% of peripheral blood cells; hyperactive; abolishes interaction with LDOC1, ANKHD1, PPP2R3B, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5 Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
VAR_012677 rs104895462 RCV000004960 CA117022 RCV000638054	334	R>W	BLAUS; no disruption of NOD2-CARD9 interaction; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000705477 CA8051442 rs369732140	343	L>P	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8051448 rs759520552 RCV001215275	346	R>Q	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_012678 rs104895428 CA150163 RCV000084071	348	L>V	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA10602671 RCV000258859 rs752615209	349	L>F	Behcet disease [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs5743272 VAR_012679 CA8051452	352	H>R	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA150166 RCV000084072 rs104895488	355	W>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_073229 CA150169 rs104895469	357	D>A	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs766265864 RCV001237247	362	D>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA150172 VAR_073230 RCV000686592 RCV000084074 rs104895470	363	I>F	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1964452487 RCV001051529	368	L>P	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_012680 rs145293873 CA150374 RCV000084160	373	R>C	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1964456255 RCV001040250	380	G>D	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_023822 RCV000416482 rs104895476 CA117027	382	D>E	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs104895493 RCV000084077 VAR_073231 CA150178	383	E>G	Blau syndrome BLAUS; unknown pathological significance; hyperactive [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000638049 rs104895477 VAR_023823 CA117031 RCV000004966	383	E>K	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000706392 CA8051476 rs777343284	384	F>Y	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA150181 RCV002055243 RCV000084078 VAR_073232 rs104895481	391	R>C	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000686777 rs140918872 CA8051485	393	R>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000694007 rs104895429 VAR_012681 CA150184 RCV000084079	414	N>S	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000638045 CA8051502 rs562225614	426	R>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs766651775 RCV000638078 CA8051504	427	P>L	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000638042 rs760982375 CA8051503	427	P>S	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_012682 CA150190 rs104895431	431	S>L	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2076754 COSM471799 CA8051510 VAR_012683	432	A>V	kidney IBD1; unknown pathological significance [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
CA150193 COSM971300 VAR_012684 rs104895432	441	E>K	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction endometrium [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_073233 RCV000084084 rs104895482 CA150199	463	P>A	no disruption of NOD2-CARD9 interaction Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_073234 rs104895492 RCV000084085 CA150202	464	G>W	Blau syndrome hyperactive [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000699576 CA281262646 rs769988393	468	R>S	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_012685 CA117020 RCV000004959 rs104895460	469	L>F	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1567392113 CA395868899 RCV000696354	476	T>N	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000084087 rs104895494 CA150205 VAR_073235	481	G>D	BLAUS; atypical form with cardiac infiltration; sporadic case; unknown pathological significance; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA150208 rs104895480 RCV000084088 VAR_073236	490	W>L	Blau syndrome BLAUS; unknown pathological significance; hyperactive [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA150211 VAR_073237 RCV000084089 rs104895478	495	C>Y	Blau syndrome BLAUS; unknown pathological significance; hyperactive [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_023824 rs104895472 CA117025 RCV000416481	496	H>L	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA395869044 rs1361409611 RCV000685064	498	E>D	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001035655 rs1964491198	500	L>*	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000638050 rs754761524	506	S>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000691147 rs754761524	506	S>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA150217 VAR_073238 rs104895473 RCV000084091	513	M>T	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1964496675 RCV001345890	519	Q>*	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA395869201 rs1283801598 RCV000702551	525	A>T	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs754073471 RCV000778465	529	D>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1567392735 CA395869267 RCV000768027	537	P>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000705559 rs772534917 CA395869300	543	R>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000084093 VAR_073239 rs104895471 CA150222	550	L>V	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000084094 rs104895436	558	L>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1264862631 RCV001045704	574	Q>E	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA150228 VAR_073240 RCV001092928 RCV000084095 rs104895479	587	R>C	BLAUS; unknown pathological significance; not hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs373185098 CA8051619 RCV000690943	587	R>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000084097 rs104895474 VAR_073241 CA150234	605	T>P	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA8051634 rs104895438 RCV000293577 RCV000385541	612	A>S	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_012686 rs104895438 CA117029	612	A>T	BLAUS and IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_012687 RCV000084098 CA150236 rs104895439	612	A>V	IBD1; unknown pathological significance; no disruption of NOD2-CARD9 interaction Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA395870231 rs1228502653 RCV001037026	645	P>T	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs150236752 CA8051658 RCV000698270	657	S>G	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs104895475 CA150239 RCV000084099 VAR_073242	670	N>K	BLAUS; hyperactive Blau syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA395870549 rs104895475 RCV000761493	670	N>K	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs371339573 CA8051678 RCV000560264	680	G>R	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs5743276 CA8051682 VAR_012688	684	R>W	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA213414 VAR_012689 rs2066844	702	R>W	IBD1 and YAOS; associated with disease susceptibility; no disruption of NOD2-CARD9 interaction; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; increases interaction with RIPK2 and PPP2R3B; decreases interaction with LDOC1 and PPP1R12C; no effect on interaction with CHMP5 [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs5743277 VAR_012690 CA202825	703	R>C	IBD1; also found in patients with ulcerative colitis; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8051693 rs5743277 RCV001222153	703	R>G	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755721919 CA8051695 RCV001245267	704	Q>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8051705 RCV001267780 rs776701942	709	W>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs104895440 RCV000084100 CA150241 RCV000658747 VAR_012691	713	R>C	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_073243 CA150244 rs104895483	713	R>H	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8051714 rs5743278 VAR_012692	725	A>G	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs104895489 RCV000084102 COSM1259275 CA150247	727	P>L	oesophagus Blau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000258056 CA10590111 rs746055479	733	V>L	Behcet disease [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001281018 rs746055479 CA8051720	733	V>M	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs61747625 CA8051743 VAR_012693	755	A>V	IBD1; also found in patients with ulcerative colitis; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1378211 rs375713299 RCV000697116 CA8051745	756	R>Q	pancreas large_intestine Blau syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376201089 CA8051744 RCV000685885	756	R>W	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000084104 CA150253 rs104895442 VAR_012694	758	A>V	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA8051747 VAR_073244 rs3813758	760	R>C	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000698432 CA8051748 rs763955590	760	R>H	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1266638330 RCV001230837 CA395871755	769	L>F	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_012695 CA150256 rs104895443	778	E>K	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1378212 rs62029861 VAR_073245 CA8051761	790	R>W	large_intestine IBD1; unknown pathological significance [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
CA150265 VAR_012696 rs104895444	793	V>M	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000701539 rs748522514 CA8051769	807	V>M	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10590109 RCV000258046 rs886040969	816	V>I	Behcet disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA150271 rs104895485 RCV000084110 VAR_073247	825	N>K	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA8051801 rs760623178 RCV001208985 RCV001786450	830	R>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001048362 rs1964807205	834	K>Q	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
rs757680896 RCV001038814 CA8051810	839	A>S	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001218557 CA8051812 rs146313066	842	C>R	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000084111 CA150274 VAR_012697 rs104895445	843	E>K	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs104895467 VAR_073249 CA150280	852	N>S	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000084114 VAR_012698 rs104895446 CA150283	853	N>S	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000627499 rs1555500626 RCV001868166	859	C>missing	Blau syndrome [ClinVar]	Yes	ClinVar dbSNP
CA8051848 rs754270929 RCV000819356	860	A>T	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs104895447 VAR_012699 CA150286	863	M>V	IBD1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8051857 rs768889214 RCV001062118	870	R>K	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs199552944 RCV000638047 CA8051927	900	S>F	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA150296 RCV000084121 rs104895490	907	W>R	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2066845 CA117015 VAR_012701	908	G>R	IBD1 and YAOS; associated with disease susceptibility; decreases half-life of protein; abolishes interaction with ANKHD1, ENTR1 and TRIM41; decreases interaction with RIPK2 and PPP1R12C; no effect on interaction with CHMP5, LDOC1 and PPP2R3B [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs104895453 CA150305 RCV000084124 VAR_012703	924	G>D	Blau syndrome IBD1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000705082 rs545734771 CA8051963	925	D>G	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1555501675 RCV000638052 CA395876314	963	E>G	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA150314 RCV000084127 rs104895455	972	V>I	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8052023 RCV000638051 rs200463498	974	S>F	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA150324 rs104895491 RCV000084131	1019	R>*	Blau syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1266310979 CA395864218	2	G>E		No	ClinGen gnomAD
rs1210065116 CA395864216	2	G>R		No	ClinGen gnomAD
CA395864243 rs1477471966	4	E>D		No	ClinGen gnomAD
rs1263590939 CA395864242	4	E>G		No	ClinGen gnomAD
rs140977130 CA395864249	5	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421581723 CA395864250	5	G>D		No	ClinGen gnomAD
CA8051162 rs140977130	5	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051164 rs373796134	8	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051163 rs764563350	8	A>S		No	ClinGen ExAC gnomAD
rs376966894 CA8051165	9	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051167 rs746379299	11	D>N		No	ClinGen ExAC TOPMed gnomAD
rs754538287 CA8051168	11	D>V		No	ClinGen ExAC gnomAD
rs1244953214 CA395864339	14	E>K		No	ClinGen gnomAD
CA395864361 rs1264322073	16	A>T		No	ClinGen gnomAD
rs1353867731 CA395864376	17	S>I		No	ClinGen TOPMed gnomAD
rs1353867731 CA395864375	17	S>N		No	ClinGen TOPMed gnomAD
CA395864381 rs1206486127	17	S>R		No	ClinGen TOPMed gnomAD
CA10643713 rs886052043	18	V>I		No	ClinGen Ensembl
rs1286500248 CA395864395	19	L>F		No	ClinGen gnomAD
rs771671839 CA281248107 COSM1740299	21	G>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8051171 rs771671839	21	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771671839 CA395864413	21	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1259603692 CA395864426	22	H>R		No	ClinGen gnomAD
CA395864444 rs1596819304	24	P>A		No	ClinGen Ensembl
CA8051172 rs149122717	24	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs567793250 CA395865146	25	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs567793250 CA8051194	25	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1376485544 CA395865151	26	C>R		No	ClinGen gnomAD
CA8051196 rs372321755	28	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051197 rs768775316	30	S>L		No	ClinGen ExAC TOPMed gnomAD
CA395865215 rs768775316	30	S>W		No	ClinGen ExAC TOPMed gnomAD
rs762072566 CA395865256	33	A>D		No	ClinGen ExAC gnomAD
CA8051199 rs762072566	33	A>G		No	ClinGen ExAC gnomAD
CA281249957 rs1042388030	34	F>S		No	ClinGen Ensembl
CA395865309 rs1294855545	37	Q>R		No	ClinGen TOPMed gnomAD
CA281249959 rs903928432	38	R>G		No	ClinGen TOPMed
CA395865335 rs1567380395	39	S>N		No	ClinGen Ensembl
rs750745611 CA8051200	40	Q>P		No	ClinGen ExAC gnomAD
rs761191478 CA8051201	41	L>M		No	ClinGen ExAC gnomAD
rs200089552 CA395865378	43	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757914381 CA8051204	44	L>P		No	ClinGen ExAC TOPMed gnomAD
rs757914381 CA281250000	44	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA8051206 rs751223046	45	L>P		No	ClinGen ExAC gnomAD
CA8051207 rs201586544	47	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758548184 CA281250013	48	G>A		No	ClinGen TOPMed
CA281250018 rs867685217	49	S>F		No	ClinGen Ensembl
rs781166995 CA8051208	50	L>P		No	ClinGen ExAC gnomAD
CA8051209 rs745597071	51	E>*		No	ClinGen ExAC gnomAD
CA395865479 rs950712918	52	G>A		No	ClinGen TOPMed gnomAD
rs1454349621 CA395865473	52	G>S		No	ClinGen gnomAD
CA281250046 rs950712918	52	G>V		No	ClinGen TOPMed gnomAD
CA8051211 rs780204985	54	E>K		No	ClinGen ExAC TOPMed gnomAD
CA281250069 rs780204985	54	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA395865513 rs1240589863	55	S>G		No	ClinGen TOPMed
CA8051212 rs749222396	55	S>N		No	ClinGen ExAC TOPMed gnomAD
CA395865564 rs1435269085	59	W>*		No	ClinGen gnomAD
rs761972851 CA8051215	61	L>V		No	ClinGen ExAC gnomAD
CA8051219 rs146149433	67	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051218 rs760962549	67	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1338330097 CA395865685	68	W>G		No	ClinGen gnomAD
rs1338330097 CA395865683	68	W>R		No	ClinGen gnomAD
rs1292392033 CA395865726	70	D>G		No	ClinGen TOPMed
CA395865739 rs1422256974	71	Y>C		No	ClinGen TOPMed
CA8051222 rs138881230	72	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs760069458 CA8051221	72	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8051223 rs751044848	73	G>A		No	ClinGen ExAC gnomAD
rs1290064937 CA395865773	74	F>L		No	ClinGen gnomAD
rs756886427 CA8051224	75	H>P		No	ClinGen ExAC gnomAD
CA8051225 rs780921204	76	L>F		No	ClinGen ExAC gnomAD
CA8051226 rs750092643	77	L>P		No	ClinGen ExAC gnomAD
rs756028666 COSM71861 CA8051227	78	G>A	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8051228 rs779970018	79	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8051230 rs370734707	80	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA395865850 rs1268714257	80	P>R		No	ClinGen TOPMed
CA8051229 rs370734707	80	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA395865903 rs1373206847	85	A>T		No	ClinGen TOPMed gnomAD
rs748200640 CA8051232	86	R>G		No	ClinGen ExAC gnomAD
rs772287143 CA8051233	86	R>K		No	ClinGen ExAC gnomAD
rs983465914 CA281250160	87	R>H		No	ClinGen TOPMed gnomAD
rs1286052486 CA395865950	89	L>Q		No	ClinGen TOPMed gnomAD
CA395865957 rs1379914873	90	D>N		No	ClinGen gnomAD
rs747221457 CA8051235	90	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1567380754 CA395865974	91	T>A		No	ClinGen Ensembl
CA395865979 rs1356111500	91	T>I		No	ClinGen gnomAD
CA8051238 rs187264529	92	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051239 rs187264529	92	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051240 rs773733975	93	W>*		No	ClinGen ExAC gnomAD
rs767119064 CA8051242	96	G>D		No	ClinGen ExAC gnomAD
CA8051243 rs767119064	96	G>V		No	ClinGen ExAC gnomAD
rs1472138329 CA395866050	97	T>A		No	ClinGen gnomAD
CA8051244 rs755795167	98	W>R		No	ClinGen ExAC gnomAD
CA8051245 rs367756419	100	C>F		No	ClinGen ESP ExAC gnomAD
CA8051246 rs753619374	101	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs138041175 CA8051247	101	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs987387515 CA281250215	102	K>N		No	ClinGen TOPMed
rs1358340090 CA395866133	103	L>V		No	ClinGen gnomAD
rs912789864 CA281250221	104	I>T		No	ClinGen TOPMed
rs113706344 CA8051249	105	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596826826 CA395866170	106	A>V		No	ClinGen Ensembl
CA395866181 rs1379443086	107	A>V		No	ClinGen gnomAD
rs35095295 CA8051253	110	A>G		No	ClinGen ExAC gnomAD
CA395866216 rs571102620	110	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051252 rs571102620	110	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs35095295 CA281250264	110	A>V		No	ClinGen ExAC gnomAD
CA395866222 rs1280031955	111	Q>*		No	ClinGen gnomAD
rs746189550 CA8051254	111	Q>R		No	ClinGen ExAC gnomAD
CA395866245 rs1201282463	112	A>V		No	ClinGen TOPMed gnomAD
CA8051257 rs767173948	113	D>A		No	ClinGen ExAC gnomAD
rs767173948 CA395866255	113	D>G		No	ClinGen ExAC gnomAD
rs104895468 CA395866252	113	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8051259 rs760423983	117	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1032593984 CA281250282	118	K>R		No	ClinGen TOPMed gnomAD
CA281250283 rs866887489	120	H>N		No	ClinGen Ensembl
rs959869589 CA281250284	120	H>R		No	ClinGen TOPMed
CA395866369 rs1174403599	122	C>Y		No	ClinGen gnomAD
CA395866378 rs1596827216	123	W>R		No	ClinGen Ensembl
CA8051262 rs149390911	125	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781448444 CA8051264	126	H>D		No	ClinGen ExAC TOPMed gnomAD
rs781448444 CA395866419	126	H>N		No	ClinGen ExAC TOPMed gnomAD
CA8051265 rs758303366	126	H>R		No	ClinGen ExAC gnomAD
rs781448444 CA395866421	126	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs146395646 CA8051266	127	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395866475 rs200160605	130	P>Q		No	ClinGen 1000Genomes gnomAD
CA281250322 rs200160605	130	P>R		No	ClinGen 1000Genomes gnomAD
CA395866490 rs1567381069	131	A>V		No	ClinGen Ensembl
rs757487598 CA281250326	132	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8051268 rs757487598	132	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8051269 rs781540619	132	R>Q		No	ClinGen ExAC gnomAD
CA395866507 rs1371541012	133	D>G		No	ClinGen TOPMed
rs572556762 CA8051270	135	Q>K		No	ClinGen 1000Genomes ExAC
rs770240116 CA8051271	135	Q>R		No	ClinGen ExAC gnomAD
CA150333 rs104895456	138	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184502667 CA8051272 COSM1378203	138	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA8051274 rs749841667	139	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760196682 CA8051277	143	R>G		No	ClinGen ExAC gnomAD
CA395866624 RCV000996262 rs1596827607	143	R>K		No	ClinGen ClinVar Ensembl dbSNP
rs1466268203 CA395866652	145	L>R		No	ClinGen gnomAD
CA395866658 rs1167393288	146	H>Y		No	ClinGen gnomAD
CA8051279 rs776403451	147	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1345209935 CA395866723	150	E>D		No	ClinGen gnomAD
CA395866717 rs1324643207	150	E>V		No	ClinGen gnomAD
rs867184583 CA395866768	153	L>P		No	ClinGen TOPMed
rs867184583 CA281250450	153	L>R		No	ClinGen TOPMed
CA8051281 rs146054564	154	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395866785 rs765122435	155	L>M		No	ClinGen ExAC TOPMed gnomAD
CA8051283 rs148753593	155	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395866796 rs1249085290	156	A>P		No	ClinGen gnomAD
rs1567381239 CA395866802	156	A>V		No	ClinGen Ensembl
rs562557464 CA8051284	159	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs751647609 CA8051285	160	G>D		No	ClinGen ExAC gnomAD
CA8051286 rs757381363	161	F>S		No	ClinGen ExAC gnomAD
CA8051289 rs756247553	162	V>A		No	ClinGen ExAC gnomAD
CA8051288 rs139571975	162	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421033155 CA395866892	163	S>N		No	ClinGen gnomAD
rs1365186140 CA395866905	164	Q>R		No	ClinGen TOPMed gnomAD
rs749605438 CA8051291	166	E>D		No	ClinGen ExAC TOPMed gnomAD
rs749605438 CA395866928	166	E>D		No	ClinGen ExAC TOPMed gnomAD
rs769289791 CA8051293	167	C>G		No	ClinGen ExAC gnomAD
rs769289791 CA8051292	167	C>R		No	ClinGen ExAC gnomAD
CA395866970 rs1292846110	172	L>F		No	ClinGen TOPMed gnomAD
CA8051295 rs770524298	173	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748652020 COSM971291 CA8051294	173	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1356803976 CA395866998	177	P>A		No	ClinGen TOPMed gnomAD
rs144368009 CA8051298 COSM3510082	177	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs144368009 CA8051297	177	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356803976 CA395866999	177	P>S		No	ClinGen TOPMed gnomAD
CA395867006 rs1487939558	178	S>F		No	ClinGen TOPMed gnomAD
rs1259750235 CA395867017	180	R>K		No	ClinGen gnomAD
CA8051316 rs141414002	181	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs748912559 CA8051317	182	R>G		No	ClinGen ExAC TOPMed gnomAD
CA395867056 rs1400044115	184	L>P		No	ClinGen TOPMed
CA395867060 rs1180675068	185	L>F		No	ClinGen gnomAD
CA395867069 rs1239172723	186	D>G		No	ClinGen gnomAD
CA281257177 rs1023677987	187	L>F		No	ClinGen Ensembl
rs867121621 CA281257188	188	A>V		No	ClinGen Ensembl
rs61755182 VAR_012667 CA8051320	189	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1369602268 CA395867091	190	V>A		No	ClinGen TOPMed
CA8051323 rs149071116	192	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1002937514 CA281257232	196	A>P		No	ClinGen TOPMed gnomAD
rs373838219 CA8051326	197	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051325 rs373838219	197	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA395867141 rs1303100796	198	F>C		No	ClinGen gnomAD
CA8051329 rs758959985	200	L>P		No	ClinGen ExAC gnomAD
rs369764782 CA281257272	203	V>I		No	ClinGen Ensembl
CA395867200 rs1175887979	207	P>A		No	ClinGen TOPMed gnomAD
CA395867203 rs1596852030 RCV000996263	207	P>R		No	ClinGen ClinVar Ensembl dbSNP
CA395867209 rs1434276044	208	V>G		No	ClinGen TOPMed gnomAD
CA395867205 rs1309284100	208	V>L		No	ClinGen TOPMed
rs753744335 CA8051337	209	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395867219 rs1170751141	210	L>F		No	ClinGen TOPMed gnomAD
CA395867220 rs1170751141	210	L>F		No	ClinGen TOPMed gnomAD
rs771887760 RCV000585126 CA395867222	211	A>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs771887760 CA8051338	211	A>T		No	ClinGen ExAC gnomAD
CA395867272 rs1470423190	217	A>G		No	ClinGen gnomAD
rs1375771211 CA395867270	217	A>T		No	ClinGen gnomAD
rs1157758358 CA395867275	218	T>A		No	ClinGen gnomAD
CA395867303 rs1416058507	221	K>N		No	ClinGen gnomAD
CA8051371 rs375336137	224	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs529640892 CA8051374	229	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051376 rs781333877	233	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs781333877 CA395867376	233	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs201790577 CA8051379 COSM971293	235	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201790577 CA8051378	235	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263235006 CA395867400	237	L>F		No	ClinGen gnomAD
CA281261395 rs1001861018	238	S>G		No	ClinGen TOPMed gnomAD
rs202190367 CA8051381	240	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs762225932 CA8051382	242	G>E		No	ClinGen ExAC gnomAD
rs148516118 CA8051383	245	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1230912892 CA395867457	246	L>V		No	ClinGen gnomAD
CA8051387 rs752210177	247	C>F		No	ClinGen ExAC gnomAD
CA8051386 rs764675751	247	C>R		No	ClinGen ExAC TOPMed gnomAD
CA8051389 rs117836686	249	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051388 rs763743511	249	E>K		No	ClinGen ExAC gnomAD
CA395867475 rs117836686	249	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051390 rs757182049	251	I>T		No	ClinGen ExAC TOPMed gnomAD
CA281261445 rs758462936	251	I>V		No	ClinGen gnomAD
CA395867492 rs1328632402	252	Y>H		No	ClinGen gnomAD
CA281261464 rs946242202	253	T>A		No	ClinGen Ensembl
CA395867524 rs1380352075	256	V>A		No	ClinGen Ensembl
rs1284557712 CA395867528	257	L>R		No	ClinGen gnomAD
CA395867539 rs1423630763	259	V>I		No	ClinGen Ensembl
CA281261485 rs528290590	260	W>C		No	ClinGen Ensembl
rs756042160 CA8051394	263	V>M		No	ClinGen ExAC gnomAD
CA395867576 rs1411160364	264	G>D		No	ClinGen TOPMed
rs780005934 CA8051396	267	G>R		No	ClinGen ExAC gnomAD
VAR_012670 rs2066842 CA8051397	268	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2066842 CA8051398	268	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051399 rs774703072	269	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1268158074 CA395867607	270	Q>K		No	ClinGen gnomAD
CA395867610 rs1271063107	270	Q>P		No	ClinGen TOPMed
CA395867621 rs773516123	271	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1374819768 CA395867635	273	P>L		No	ClinGen TOPMed gnomAD
CA8051404 rs766841285	275	T>A		No	ClinGen ExAC
CA8051406 rs762579270	276	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1437917228 COSM558075 CA395867657	277	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200744970 CA8051408	279	E>A		No	ClinGen 1000Genomes ExAC
CA281261558 rs146074127	280	E>G		No	ClinGen ESP
CA8051409 rs756943416	281	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8051411 rs369740939	284	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA395867701 rs1403583731	284	T>I		No	ClinGen gnomAD
rs1319731165 CA395867704	285	P>A		No	ClinGen TOPMed gnomAD
rs560242309 CA8051412	287	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_012671 CA8051413 rs5743271	289	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755127265 CA8051415	291	D>G		No	ClinGen ExAC TOPMed gnomAD
rs149338478 CA395867753	292	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1189274 CA8051417 rs149338478	292	A>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs778114969 CA8051418	295	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8051420 rs771184127	299	G>D		No	ClinGen ExAC TOPMed gnomAD
CA395867789 rs1371595174	299	G>S		No	ClinGen gnomAD
rs1164632643 CA395867796	300	E>*		No	ClinGen gnomAD
rs1384936174 CA395867804	301	A>S		No	ClinGen gnomAD
rs1384936174 CA395867802	301	A>T		No	ClinGen gnomAD
CA395867839 rs1381205352	306	S>N		No	ClinGen gnomAD
rs1567390329 CA395867835	306	S>R		No	ClinGen Ensembl
CA8051423 rs191901394	307	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242909771 CA395867844	307	T>S		No	ClinGen gnomAD
rs1267341301 COSM971296 CA395867851	308	L>F	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767225117 CA8051425	309	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8051427 rs760588667	310	Q>*		No	ClinGen ExAC gnomAD
rs148526508 CA8051428	310	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs778995814 CA8051430	311	R>Q		No	ClinGen ExAC TOPMed
rs1462834850 CA395867875	313	H>N		No	ClinGen gnomAD
CA395867896 rs1306211364	316	W>*		No	ClinGen TOPMed gnomAD
rs1306211364 CA395867897	316	W>S		No	ClinGen TOPMed gnomAD
CA395867902 rs1320374265	317	A>T		No	ClinGen TOPMed
rs199975570 CA8051431	317	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1455956071 CA395867912	318	A>V		No	ClinGen TOPMed
CA395867915 rs1161700878	319	G>E		No	ClinGen gnomAD
CA8051432 rs758631940	319	G>W		No	ClinGen ExAC gnomAD
CA8051435 rs201591164	320	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8051436 rs747190206	321	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8051437 rs771364403	321	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1453630477 CA395867926	321	D>Y		No	ClinGen TOPMed gnomAD
CA395867965 COSM257540 rs1596862481	326	L>I	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA395867977 rs1219198542	328	V>I		No	ClinGen gnomAD
rs773132030 CA8051438 RCV001002523	330	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA395868003 rs1392970712	331	F>L		No	ClinGen gnomAD
CA395868015 rs1307391583	333	C>Y		No	ClinGen TOPMed gnomAD
rs104895461 CA395868021	334	R>P		No	ClinGen TOPMed
rs7498256 CA281261862	335	Q>H		No	ClinGen gnomAD
rs774016655 CA8051441	340	A>G		No	ClinGen ExAC gnomAD
rs770361381 CA8051440	340	A>T		No	ClinGen ExAC gnomAD
rs369732140 CA8051443	343	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs199475912 CA230137 RCV000089376	344	S>F		No	ClinGen ClinVar Ensembl dbSNP
CA8051446 rs766219817	345	V>A		No	ClinGen ExAC gnomAD
rs760224068 CA8051445	345	V>L		No	ClinGen ExAC gnomAD
CA8051449 rs759520552	346	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753537879 CA8051447	346	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1419019873 CA395868096	347	T>S		No	ClinGen gnomAD
CA8051450 rs752615209	349	L>V		No	ClinGen ExAC gnomAD
CA281261998 rs554991667	351	E>D		No	ClinGen TOPMed
rs751854684 CA8051453	354	C>F		No	ClinGen ExAC gnomAD
CA395868151 rs104895488	355	W>C		No	ClinGen TOPMed gnomAD
rs201107567 CA8051455	356	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051454 rs757368076	356	P>S		No	ClinGen ExAC gnomAD
CA8051456 rs756538468	357	D>E		No	ClinGen ExAC gnomAD
CA281262062 rs967725330	358	V>I		No	ClinGen Ensembl
CA395868174 rs1346043018	360	Q>E		No	ClinGen gnomAD
rs556617095 CA8051458	361	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1310692375 CA395868191	362	D>A		No	ClinGen gnomAD
rs772548332 CA8051460	363	I>N		No	ClinGen ExAC gnomAD
rs746706579 CA8051461	365	Q>*		No	ClinGen ExAC gnomAD
rs1430448639 CA395868212	365	Q>L		No	ClinGen TOPMed
rs776498009 CA8051463	368	L>F		No	ClinGen ExAC
rs759382357 CA8051464	369	D>E		No	ClinGen ExAC TOPMed gnomAD
rs199858111 CA8051465	370	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775443143 CA8051466	371	P>A		No	ClinGen ExAC TOPMed gnomAD
CA395868253 rs1256517634	372	D>N		No	ClinGen TOPMed
CA281262140 rs764176270 COSM971298	373	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8051467 rs764176270	373	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751550117 COSM190541 CA8051468	374	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1477656665 CA395868273	375	L>R		No	ClinGen TOPMed gnomAD
CA8051470 rs767694243	376	L>F		No	ClinGen ExAC gnomAD
CA395868284 rs1567391045	377	T>S		No	ClinGen Ensembl
rs1393333504 CA395868289	378	F>S		No	ClinGen TOPMed
rs780544950 CA8051473	378	F>V		No	ClinGen ExAC gnomAD
rs1272071952 CA395868297	379	D>G		No	ClinGen TOPMed
CA8051475 rs104895477	383	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1056234534 CA281262183	388	F>L		No	ClinGen gnomAD
CA8051478 rs528926956	389	T>M		No	ClinGen ExAC TOPMed gnomAD
rs147283871 CA8051480	390	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs769622495 CA8051481	390	D>V		No	ClinGen ExAC TOPMed gnomAD
CA8051482 rs554887705	391	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8051483 rs763868196	392	E>K		No	ClinGen ExAC TOPMed gnomAD
rs140716236 CA8051484	393	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1423938351 CA395868399	395	C>S		No	ClinGen gnomAD
rs150078153 CA8051488	397	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051491 COSM190542 rs755554858	399	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779346494 CA395868433	400	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8051492 rs779346494	400	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8051493 rs753241960	402	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8051494 rs756755875	404	Q>*		No	ClinGen ExAC gnomAD
CA281262296 rs367630707	404	Q>H		No	ClinGen ESP TOPMed gnomAD
CA281262317 rs760998620	407	L>F		No	ClinGen Ensembl
rs1215923082 CA395868488	409	N>I		No	ClinGen gnomAD
rs1215923082 CA395868487	409	N>S		No	ClinGen gnomAD
rs1463282482 CA395868513	413	G>D		No	ClinGen gnomAD
CA281262321 rs937713503	414	N>K		No	ClinGen TOPMed gnomAD
CA395868520 rs104895429	414	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745540141 CA8051495	415	L>V		No	ClinGen ExAC gnomAD
CA281262334 rs766612118	416	L>V		No	ClinGen Ensembl
CA395868540 rs1219204741	418	N>D		No	ClinGen gnomAD
rs867562380 CA281262344	419	A>V		No	ClinGen gnomAD
RCV000658285 CA8051496 rs367883043	420	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199475913 CA230140 COSM1378205 RCV000089377	420	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs768497619 CA8051498	422	V>G		No	ClinGen ExAC gnomAD
rs1243809567 CA395868564	422	V>L		No	ClinGen gnomAD
CA8051499 rs774197781	423	V>M		No	ClinGen ExAC gnomAD
rs1596864349 CA395868576	424	T>N		No	ClinGen Ensembl
rs545466982 CA8051501	426	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3937082 rs144827713 CA8051507	429	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs768389547 CA8051513	435	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778723375 CA8051514	436	K>M		No	ClinGen ExAC TOPMed gnomAD
rs375201229 CA8051518	439	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051519 rs143110172 COSM1378206	439	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA281262534 rs143110172	439	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375201229 CA395868664	439	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA395868671 rs1443384717	440	T>I		No	ClinGen gnomAD
CA395868684 rs1283324859	442	F>S		No	ClinGen gnomAD
CA395868703 rs1364334198	445	K>E		No	ClinGen TOPMed
rs763372171 CA8051523	447	F>L		No	ClinGen ExAC gnomAD
CA395868739 rs1438239722	450	Q>*		No	ClinGen gnomAD
CA8051526 rs764525298	450	Q>L		No	ClinGen ExAC gnomAD
rs1249578378 CA395868749	451	G>D		No	ClinGen gnomAD
rs556728426 CA8051528	453	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395868772 rs1596865138	455	Y>S		No	ClinGen Ensembl
rs765857594 CA8051529	459	R>C		No	ClinGen ExAC gnomAD
CA8051530 rs753458507	459	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395868816 rs1410931849	461	H>Q		No	ClinGen gnomAD
rs104895492 CA8051535	464	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1248238724 CA395868840	466	A>T		No	ClinGen TOPMed
CA8051537 rs776802746	466	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8051539 rs769988393	468	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8051540 rs775728252	468	R>H		No	ClinGen ExAC TOPMed gnomAD
CA281262650 rs775728252	468	R>L		No	ClinGen ExAC TOPMed gnomAD
CA395868857 rs1202641657	469	L>R		No	ClinGen TOPMed
rs1078327 CA8051541 VAR_036872	471	R>C	does not affect activity [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8051542 rs764414933	471	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395868882 rs1434117118	474	Q>K		No	ClinGen TOPMed
CA8051545 rs367819045	474	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA281262706 rs925816831	476	T>P		No	ClinGen Ensembl
rs1244100618 CA395868906	477	S>*		No	ClinGen TOPMed gnomAD
rs950076475 CA281262728	481	G>S		No	ClinGen gnomAD
CA8051548 rs764999813	483	C>G		No	ClinGen ExAC
rs752289154 CA8051549	483	C>S		No	ClinGen ExAC gnomAD
CA8051550 rs201712814	484	H>P		No	ClinGen ExAC gnomAD
CA8051552 rs746965323	486	P>S		No	ClinGen ExAC gnomAD
CA281262812 rs908626604	487	V>I		No	ClinGen TOPMed gnomAD
rs1596865865 CA395869002	492	V>G		No	ClinGen Ensembl
rs941488890 CA281262835	494	K>Q		No	ClinGen Ensembl
rs1246426231 CA395869057	500	L>F		No	ClinGen gnomAD
rs1596865967 CA395869066	502	Q>P		No	ClinGen Ensembl
rs1567392321 CA395869074	503	E>A		No	ClinGen Ensembl
CA395869081 rs775823953	504	G>E		No	ClinGen ExAC TOPMed gnomAD
CA395869080 rs769745923	504	G>R		No	ClinGen ExAC TOPMed gnomAD
CA395869079 rs769745923	504	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775823953 CA8051558	504	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8051557 rs769745923	504	G>W		No	ClinGen ExAC TOPMed gnomAD
CA395869086 rs1447813363	505	G>A		No	ClinGen gnomAD
CA395869087 rs1447813363	505	G>E		No	ClinGen gnomAD
rs749451506 CA8051559	505	G>W		No	ClinGen ExAC gnomAD
rs1596866175 CA395869090	506	S>A		No	ClinGen Ensembl
rs762313725 CA8051562	508	K>E		No	ClinGen ExAC gnomAD
rs773580517 CA281262878	509	T>I		No	ClinGen ExAC gnomAD
rs773580517 CA8051564	509	T>N		No	ClinGen ExAC gnomAD
CA8051565 rs759153904	511	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1159805501 CA395869126	512	D>G		No	ClinGen gnomAD
CA8051567 rs540122692	514	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051566 rs540122692	514	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051570 COSM703532 rs368316739	519	Q>P	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs368316739 CA8051569	519	Q>R		No	ClinGen ESP ExAC gnomAD
rs757269951 CA8051571	520	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8051573 rs750320692	523	L>P		No	ClinGen ExAC TOPMed gnomAD
CA281262959 rs750320692	523	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA281262970 rs756269477	524	H>P		No	ClinGen ExAC gnomAD
CA8051574 rs756269477	524	H>R		No	ClinGen ExAC gnomAD
rs1020669798 CA281262991	526	T>A		No	ClinGen TOPMed
CA395869215 rs1208159760	527	P>H		No	ClinGen gnomAD
rs779264256 CA8051581	528	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8051584 rs773811702	528	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773811702 CA8051582	528	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs773811702 CA8051583	528	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8051580 rs779264256 COSM3957630	528	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8051579 rs779264256	528	P>T		No	ClinGen ExAC TOPMed gnomAD
CA395869231 rs1422583443	530	S>L		No	ClinGen gnomAD
rs1355322844 CA395869227	530	S>P		No	ClinGen TOPMed
rs1328584012 CA395869234	531	A>T		No	ClinGen Ensembl
CA8051586 rs762694876	531	A>V		No	ClinGen ExAC gnomAD
CA8051587 rs147417132	533	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051588 rs139663808	534	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs991697483 CA281263151	536	G>*		No	ClinGen Ensembl
rs1469956690 CA395869262	536	G>E		No	ClinGen gnomAD
rs767197520 CA8051590	537	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8051594 rs753857915	541	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8051595 rs753857915	541	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8051593 rs576658764	541	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779174604 CA8051596	542	G>D		No	ClinGen ExAC gnomAD
CA395869292 rs1227896647	542	G>S		No	ClinGen gnomAD
CA8051597 rs545580252 COSM703531	543	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8051598 rs772534917	543	R>L		No	ClinGen ExAC gnomAD
CA395869299 rs772534917	543	R>P		No	ClinGen ExAC gnomAD
CA8051599 rs777949388	545	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395869309 rs1255620928	545	P>S		No	ClinGen gnomAD
CA8051601 rs771275838	547	L>F		No	ClinGen ExAC gnomAD
rs762186831 CA395869320	547	L>H		No	ClinGen gnomAD
CA281263214 rs762186831	547	L>P		No	ClinGen gnomAD
CA8051603 rs374916056	552	R>G		No	ClinGen ESP ExAC gnomAD
rs768274192 CA8051604	554	A>S		No	ClinGen ExAC gnomAD
rs1298492053 CA395869359	554	A>V		No	ClinGen gnomAD
rs1306260121 CA395869378	557	G>D		No	ClinGen gnomAD
CA8051605 rs369310865	559	G>S		No	ClinGen ESP ExAC gnomAD
rs761511477 CA8051606	560	M>V		No	ClinGen ExAC gnomAD
CA8051607 rs767379148	561	C>Y		No	ClinGen ExAC
rs760678831 CA8051609	564	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8051610 rs766284613	565	F>L		No	ClinGen ExAC gnomAD
CA281263277 rs908511039	566	S>L		No	ClinGen Ensembl
rs1275740212 CA395869444	567	A>V		No	ClinGen gnomAD
CA8051612 rs755091130	570	L>F		No	ClinGen ExAC gnomAD
CA8051613 rs765280724	573	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752936259 CA8051614	573	A>V		No	ClinGen ExAC gnomAD
rs1264862631 CA395869486	574	Q>*		No	ClinGen gnomAD
CA395869505 rs1210346907	576	S>R		No	ClinGen TOPMed
rs758507559 CA8051615	577	P>T		No	ClinGen ExAC gnomAD
rs1427575528 CA395869516	578	D>E		No	ClinGen gnomAD
rs778204006 CA8051616	578	D>G		No	ClinGen ExAC gnomAD
CA8051617 rs747275567	580	I>T		No	ClinGen ExAC gnomAD
CA281263310 rs866417928	581	S>F		No	ClinGen Ensembl
CA281263312 rs750625667	582	L>V		No	ClinGen Ensembl
CA395869558 rs1331144569	585	L>Q		No	ClinGen gnomAD
rs1226636811 CA395869587	590	G>C		No	ClinGen gnomAD
rs777290697 CA281263318	590	G>V		No	ClinGen Ensembl
rs768306879 CA8051621	591	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8051623 rs148683734	592	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1324354422 CA395869604	593	P>S		No	ClinGen TOPMed
CA8051625 rs142077546	596	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051626 rs377554134	597	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA281263381 rs759418926	598	P>S		No	ClinGen ExAC gnomAD
rs759418926 COSM558071 CA8051628	598	P>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA395869704 rs1404647585	601	F>L		No	ClinGen gnomAD
CA281263387 rs572217630	604	I>V		No	ClinGen TOPMed
rs765330092 CA8051629	606	F>S		No	ClinGen ExAC gnomAD
CA8051630 rs752707000	607	Q>R		No	ClinGen ExAC gnomAD
rs777798807 CA8051631	609	F>C		No	ClinGen ExAC TOPMed gnomAD
CA395869774 rs1321541342	609	F>L		No	ClinGen gnomAD
CA8051632 rs764277453	610	F>V		No	ClinGen ExAC gnomAD
CA395869837 rs1318260118	614	Y>C		No	ClinGen TOPMed gnomAD
rs971975181 CA281263407	614	Y>H		No	ClinGen TOPMed
rs771607438 CA395869858	616	A>E		No	ClinGen ExAC TOPMed gnomAD
rs747674172 CA8051637	616	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8051638 rs771607438	616	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8051639 rs772781164	617	L>H		No	ClinGen ExAC TOPMed gnomAD
CA10647601 rs867131858	619	A>V		No	ClinGen Ensembl
rs1567393465 CA395869960	624	A>T		No	ClinGen Ensembl
rs746653187 CA8051640	628	H>R		No	ClinGen ExAC TOPMed gnomAD
CA395870012 rs1334577515	628	H>Y		No	ClinGen Ensembl
rs1180117238 CA395870152	632	C>Y		No	ClinGen TOPMed gnomAD
CA281263416 rs970949991	634	R>G		No	ClinGen TOPMed gnomAD
rs1176944571 CA395870169	634	R>S		No	ClinGen TOPMed
rs1004387511 CA395870171	635	P>A		No	ClinGen gnomAD
rs1004387511 CA281263425	635	P>S		No	ClinGen gnomAD
CA8051645 rs199770660	641	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA281263448 rs1015817254	641	A>V		No	ClinGen TOPMed
rs775480458 CA8051646	643	L>F		No	ClinGen ExAC gnomAD
CA8051647 rs763005931	643	L>H		No	ClinGen ExAC gnomAD
CA395870223 rs763005931	643	L>P		No	ClinGen ExAC gnomAD
CA281263485 rs550393501	645	P>R		No	ClinGen 1000Genomes
CA8051649 rs370615110	646	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA395870250 rs1278886589	647	M>I		No	ClinGen gnomAD
CA8051651 rs768002172	647	M>L		No	ClinGen ExAC gnomAD
rs78848722 CA8051652	648	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484221771 CA395870267	649	I>F		No	ClinGen TOPMed
rs1484221771 CA395870265	649	I>L		No	ClinGen TOPMed
CA395870269 rs367637762	649	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs367637762 CA8051653	649	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051654 rs780773726	652	S>L		No	ClinGen ExAC TOPMed gnomAD
rs757895989 CA8051656	653	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757895989 CA281263504	653	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs777290315 CA8051657	654	G>R		No	ClinGen ExAC gnomAD
CA8051660 rs570167996	659	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111400183 CA8051661	660	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369957746 CA8051663	661	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1329100109 CA395870418	661	A>V		No	ClinGen TOPMed gnomAD
CA395870433 rs1410917662	662	L>F		No	ClinGen gnomAD
rs1310112406 CA395870473	665	K>T		No	ClinGen Ensembl
rs774425599 CA8051666	667	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8051667 rs762143113	668	P>A		No	ClinGen ExAC gnomAD
rs5743275 CA8051668	668	P>L		No	ClinGen ESP TOPMed gnomAD
rs1217298974 CA395870525	669	H>Y		No	ClinGen gnomAD
rs754325924 CA8051673	671	L>R		No	ClinGen ExAC gnomAD
rs1414478945 CA395870573	672	Q>H		No	ClinGen TOPMed
rs755473279 CA8051674	673	I>M		No	ClinGen ExAC gnomAD
rs945203022 CA281263677	674	T>I		No	ClinGen TOPMed
rs138958152 CA8051675	675	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374116563 CA8051676	677	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477792915 CA395870639	678	L>P		No	ClinGen gnomAD
CA8051681 rs149002807	682	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1406646236 CA395870693	683	S>Y		No	ClinGen gnomAD
rs5743276 CA8051683	684	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114664276 CA8051684	684	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201709367 CA8051685	686	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA8051686 rs772247744	687	W>*		No	ClinGen ExAC gnomAD
CA395870752 rs1227364743	688	G>R		No	ClinGen gnomAD
CA395870789 rs1361453921	691	A>D		No	ClinGen gnomAD
CA8051689 rs766687492	692	E>G		No	ClinGen ExAC gnomAD
CA8051688 rs143782684 COSM1302013	692	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA281263822 rs1012189224	699	A>P		No	ClinGen TOPMed gnomAD
CA8051691 rs759970720	701	L>F		No	ClinGen ExAC TOPMed gnomAD
rs139104022 CA8051692	702	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750096604 CA8051694	703	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395870935 rs750096604	703	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8051696 rs779728017	704	Q>R		No	ClinGen ExAC gnomAD
rs749166558 CA8051697	705	A>S		No	ClinGen ExAC gnomAD
rs754726436 CA8051698	705	A>V		No	ClinGen ExAC TOPMed gnomAD
rs539297110 CA8051699	706	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs539297110 CA8051700	706	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs772304813 CA8051701	707	A>G		No	ClinGen ExAC gnomAD
CA8051703 rs747241427	708	R>C		No	ClinGen ExAC TOPMed gnomAD
rs35285618 CA8051704	708	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395871003 rs1283525653	709	W>*		No	ClinGen gnomAD
rs776701942 CA395871012	709	W>C		No	ClinGen ExAC TOPMed gnomAD
rs776025574 CA8051706	716	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8051707 rs200035357	716	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444481596 CA395871106	717	K>N		No	ClinGen gnomAD
CA8051709 rs749879341	720	H>Y		No	ClinGen ExAC gnomAD
rs201076024 CA8051712	723	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866850012 CA281263968	723	P>S		No	ClinGen Ensembl
CA395871218 rs1333485422	726	A>V		No	ClinGen gnomAD
CA395871221 rs1338599093	727	P>A		No	ClinGen gnomAD
rs1330101550 CA395871240	728	G>V		No	ClinGen gnomAD
rs375016055 CA8051717	730	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051718 rs369766227	732	S>N		No	ClinGen ESP ExAC gnomAD
rs6413461 CA281264025	732	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770215737 CA8051721	734	H>P		No	ClinGen ExAC gnomAD
rs139097081 CA8051722	735	A>V		No	ClinGen ESP ExAC gnomAD
CA395871349 rs1251822561	736	M>I		No	ClinGen gnomAD
CA8051723 rs763452657	737	P>L		No	ClinGen ExAC gnomAD
CA395871360 rs1378981093	738	G>R		No	ClinGen gnomAD
CA395871379 rs1171744223	739	F>S		No	ClinGen TOPMed gnomAD
CA395871381 rs1171744223	739	F>Y		No	ClinGen TOPMed gnomAD
CA8051726 rs766637609	740	I>F		No	ClinGen ExAC gnomAD
CA8051727 rs766637609	740	I>L		No	ClinGen ExAC gnomAD
CA8051728 rs374106394	740	I>T		No	ClinGen ESP ExAC gnomAD
CA281264092 rs766637609	740	I>V		No	ClinGen ExAC gnomAD
CA8051729 rs759074613	741	W>*		No	ClinGen ExAC gnomAD
rs1358771284 CA395871412	741	W>C		No	ClinGen Ensembl
CA395871407 rs759074613	741	W>L		No	ClinGen ExAC gnomAD
rs146458676 CA281264153	743	I>M		No	ClinGen ESP TOPMed
CA395871432 rs1305177895	743	I>V		No	ClinGen gnomAD
rs751849531 CA8051733	744	R>Q		No	ClinGen ExAC gnomAD
CA8051732 rs140876663	744	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255713041 CA395871457	745	S>I		No	ClinGen gnomAD
rs1346346993 CA395871459	745	S>R		No	ClinGen TOPMed gnomAD
CA395871469 rs1208002758	746	L>P		No	ClinGen gnomAD
CA281264176 rs781083084	748	E>D		No	ClinGen ExAC TOPMed gnomAD
rs757403209 CA8051735	748	E>K		No	ClinGen ExAC gnomAD
rs571979342 CA8051738	749	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746132151 CA8051737	749	M>V		No	ClinGen ExAC gnomAD
CA8051739 rs780243828	750	Q>E		No	ClinGen ExAC gnomAD
rs749720540 CA395871568	753	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8051742 rs774888496	753	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8051741 rs749720540	753	R>W		No	ClinGen ExAC TOPMed gnomAD
CA395871598 rs375713299	756	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA395871607 rs1596870949	757	K>R		No	ClinGen Ensembl
rs752390709 CA8051746	759	A>T		No	ClinGen ExAC gnomAD
rs1232451010 CA395871667	763	N>H		No	ClinGen TOPMed
CA8051749 rs564815866	763	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA281264310 rs533618528	764	V>I		No	ClinGen 1000Genomes
rs1276023609 CA395871699	765	G>R		No	ClinGen gnomAD
CA8051752 rs750410680	767	L>F		No	ClinGen ExAC gnomAD
rs1298126346 CA395871740	768	K>R		No	ClinGen TOPMed
rs753779656 CA281264342	773	S>N		No	ClinGen TOPMed gnomAD
CA395871842 rs1264795843	776	P>S		No	ClinGen gnomAD
rs1264795843 CA395871838	776	P>T		No	ClinGen gnomAD
CA8051753 rs756184386	777	T>N		No	ClinGen ExAC gnomAD
CA8051754 rs749491290	779	C>Y		No	ClinGen ExAC gnomAD
CA395871891 rs1168427998	780	A>T		No	ClinGen gnomAD
CA281264410 rs866173388	781	A>V		No	ClinGen Ensembl
rs1019685184 CA281264422	783	A>D		No	ClinGen gnomAD
rs1019685184 CA395871928	783	A>V		No	ClinGen gnomAD
CA395871947 rs1437768475	785	V>M		No	ClinGen gnomAD
CA8051756 rs374321834	786	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8051757 rs748697332	788	H>Q		No	ClinGen ExAC gnomAD
rs912833785 CA281264451	788	H>R		No	ClinGen TOPMed gnomAD
CA8051759 rs773758818	789	L>F		No	ClinGen ExAC TOPMed gnomAD
VAR_024402 CA8051762 rs5743279	790	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA150262 rs104895464	791	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs104895484 VAR_073246 CA150259	791	R>W		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1200152449 CA395872028	793	V>A		No	ClinGen gnomAD
rs104895444 CA395872024	793	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281264511 rs1053910388	794	A>T		No	ClinGen TOPMed gnomAD
CA8051765 rs750344762	796	Q>*		No	ClinGen ExAC gnomAD
rs1458967886 CA395872059	796	Q>P		No	ClinGen gnomAD
rs1275566947 CA395872117	799	Y>C		No	ClinGen TOPMed
CA281264529 rs907626784	803	G>C		No	ClinGen Ensembl
CA395872179 rs1179136561	804	D>N		No	ClinGen gnomAD
CA8051767 rs754094105	805	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1330776980 CA395872234	808	E>Q		No	ClinGen TOPMed gnomAD
rs1290958571 CA395872259	809	Q>H		No	ClinGen TOPMed
CA281264558 rs61736931	809	Q>R		No	ClinGen Ensembl
CA281264561 rs746692864	812	P>S		No	ClinGen TOPMed gnomAD
CA8051770 rs758782544	817	C>Y		No	ClinGen ExAC gnomAD
CA8051771 rs539311609	818	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1238015032 CA395872339	818	K>Q		No	ClinGen TOPMed gnomAD
rs1409767769 CA395872349	819	A>S		No	ClinGen TOPMed
CA395872348 rs1409767769 COSM262425	819	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1187329498 CA395872353	819	A>V		No	ClinGen gnomAD
CA395873352 rs1301012583	822	L>S		No	ClinGen TOPMed
rs575509512 CA8051791	823	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM262426 CA8051792 rs768930237	823	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA281268356 rs768930237	823	R>L		No	ClinGen ExAC TOPMed gnomAD
CA395873361 rs575509512	823	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051797 rs778481419	824	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8051795 rs61755272	824	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61755272 CA8051796	824	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1436148419 CA395873385	825	N>D		No	ClinGen gnomAD
rs747787438 CA8051798	825	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8051799 rs771795137	826	N>S		No	ClinGen ExAC TOPMed gnomAD
CA281268396 rs996538941	828	S>*		No	ClinGen Ensembl
rs770915641 CA8051802	830	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770915641 CA395873452	830	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770915641 CA8051803	830	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1166816311 CA395873465	831	G>V		No	ClinGen gnomAD
rs765335094 CA8051805	832	I>F		No	ClinGen ExAC TOPMed gnomAD
rs765335094 CA10648458	832	I>V		No	ClinGen ExAC TOPMed gnomAD
CA281268448 rs761818945	835	L>F		No	ClinGen Ensembl
CA8051807 rs763192145	836	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8051806 rs752881716	836	I>V		No	ClinGen ExAC gnomAD
rs751914672 CA8051809	838	C>R		No	ClinGen ExAC gnomAD
rs781781095 CA8051811	839	A>V		No	ClinGen ExAC
CA281268511 rs913651690	841	H>R		No	ClinGen TOPMed gnomAD
rs754471017 CA8051813	842	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA395873639 rs1465628415	844	Q>R		No	ClinGen gnomAD
CA8051817 rs104895486	849	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA150277 COSM1378213 VAR_073248 rs104895486	849	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1412993795 CA395873767	850	L>P		No	ClinGen gnomAD
rs767998441 CA8051844	853	N>Y		No	ClinGen ExAC gnomAD
CA395873814 rs1386587784	857	D>G		No	ClinGen TOPMed gnomAD
CA8051846 rs760938311	858	G>S		No	ClinGen ExAC gnomAD
CA8051847 rs766980553	859	C>Y		No	ClinGen ExAC
CA8051850 rs763542516	861	H>R		No	ClinGen ExAC TOPMed gnomAD
CA395873846 rs1245181200	862	S>Y		No	ClinGen TOPMed
rs756832040 CA8051851	863	M>I		No	ClinGen ExAC gnomAD
rs104895447 CA395873849	863	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051852 rs780975637	864	A>T		No	ClinGen ExAC gnomAD
CA395873859 rs1478226800	864	A>V		No	ClinGen gnomAD
rs1000799073 CA281269931	866	L>V		No	ClinGen Ensembl
rs745733405 CA8051853	867	L>F		No	ClinGen ExAC TOPMed gnomAD
CA395873883 rs1373524198	868	A>V		No	ClinGen TOPMed gnomAD
rs749157324 CA8051856	869	C>F		No	ClinGen ExAC gnomAD
rs780077950 CA8051855	869	C>G		No	ClinGen ExAC gnomAD
CA395873885 rs780077950	869	C>R		No	ClinGen ExAC gnomAD
CA8051858 rs201806207	872	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395873941 rs1333237516	877	R>G		No	ClinGen TOPMed gnomAD
rs1314897129 CA395874235 COSM1217546	879	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8051908 rs374506720	880	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA395874242 rs1212452159	880	N>Y		No	ClinGen TOPMed
CA281272709 rs146276010	883	I>L		No	ClinGen ESP TOPMed gnomAD
CA395874287 rs776394582	883	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8051910 rs776394582	883	I>T		No	ClinGen ExAC TOPMed gnomAD
CA395874293 rs1210188970	884	T>A		No	ClinGen gnomAD
rs759456303 CA8051911	885	A>P		No	ClinGen ExAC TOPMed gnomAD
rs565200911 CA8051914	886	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs376366287 CA8051913	886	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA395874316 COSM3691035 rs376366287	886	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs565200911 CA281272736	886	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA395874336 rs1267396833	888	A>S		No	ClinGen Ensembl
CA8051915 rs764244331	889	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs371163141 CA8051918	891	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA281272786 rs201884393	893	E>*		No	ClinGen ExAC TOPMed gnomAD
rs201884393 CA8051922	893	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769101191 CA8051923	896	R>*		No	ClinGen ExAC gnomAD
CA395874435 rs201831159	896	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051924 rs201831159	896	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297765740 CA395874439	897	G>S		No	ClinGen TOPMed gnomAD
CA8051925 rs746542083	897	G>V		No	ClinGen ExAC gnomAD
CA8051926 rs770454777	899	T>I		No	ClinGen ExAC gnomAD
rs200428513 CA8051930	902	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200428513 CA8051931	902	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8051929 rs201035873	902	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750560134 CA8051954	906	F>Y		No	ClinGen ExAC gnomAD
CA8051956 rs142376491	908	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs2066845 CA8051955	908	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1354091032 CA395875046	910	R>I		No	ClinGen gnomAD
CA395875055 rs1357306900	911	V>M		No	ClinGen Ensembl
rs779300567 CA8051958	912	G>A		No	ClinGen ExAC gnomAD
CA395875086 rs104895451	913	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1274010582 CA395875078	913	D>N		No	ClinGen gnomAD
rs758913334 CA8051959	914	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778408661 CA8051960	916	A>P		No	ClinGen ExAC TOPMed gnomAD
CA395875115 rs778408661	916	A>T		No	ClinGen ExAC TOPMed gnomAD
rs553794692 CA8051961	917	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs104895452 CA150302 VAR_012702	918	A>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769395722 CA8051962	918	A>T		No	ClinGen ExAC TOPMed gnomAD
CA395875170 rs1188261459	921	E>K		No	ClinGen gnomAD
rs104895453 COSM703526 CA395875217	924	G>V	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs774129547 CA8051964	925	D>E		No	ClinGen ExAC
rs545734771 CA395875230	925	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761500764 CA8051965	926	H>P		No	ClinGen ExAC gnomAD
rs1242042498 CA395875250	926	H>Q		No	ClinGen TOPMed
CA8051966 rs772064514	928	S>N		No	ClinGen ExAC gnomAD
rs771833402 CA8051986	934	L>V		No	ClinGen ExAC gnomAD
rs746911440 CA395875569	935	V>L		No	ClinGen ExAC gnomAD
rs746911440 CA8051988	935	V>M		No	ClinGen ExAC gnomAD
CA281276380 rs542558237	936	G>E		No	ClinGen 1000Genomes
rs770924038 CA8051989	938	N>S		No	ClinGen ExAC gnomAD
CA8051990 rs201781416	939	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8051992 rs775540348	943	G>D		No	ClinGen ExAC gnomAD
rs752141641 CA8051995	944	A>G		No	ClinGen ExAC gnomAD
rs764503364 CA8051994	944	A>T		No	ClinGen ExAC gnomAD
rs752141641 CA395875682	944	A>V		No	ClinGen ExAC gnomAD
CA395875690 rs1394622344	945	Q>*		No	ClinGen gnomAD
rs1464578513 CA395875699	945	Q>H		No	ClinGen gnomAD
rs1359353057 CA395875711	946	A>G		No	ClinGen TOPMed
rs757770809 CA395875717	947	L>*		No	ClinGen ExAC gnomAD
CA395875722 rs765820451	947	L>F		No	ClinGen ExAC gnomAD
CA8051996 rs757770809	947	L>W		No	ClinGen ExAC gnomAD
CA8051998 rs753454914	949	L>R		No	ClinGen ExAC gnomAD
rs527892258 CA8051999	950	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527892258 CA8052000	950	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000788649 CA281276438 rs768561004	951	L>V		No	ClinGen ClinVar Ensembl dbSNP
CA8052001 rs375705174	953	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA395875787 rs1303276743	953	K>R		No	ClinGen gnomAD
VAR_012704 CA150311 rs5743291	955	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746965976 CA8052003	958	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1338268997 CA395875860	959	E>K		No	ClinGen gnomAD
rs752353565 CA8052018	965	N>S		No	ClinGen ExAC gnomAD
rs189453919 CA8052020	966	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA281280615 rs528345270	969	D>N		No	ClinGen Ensembl
CA8052021 rs371389581	970	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187029221 CA395876371	971	G>D		No	ClinGen TOPMed gnomAD
CA395876382 rs1251391668	973	C>Y		No	ClinGen TOPMed
rs1337759230 CA395876393	975	L>V		No	ClinGen TOPMed
rs148561632 CA8052024 COSM1324420	976	A>T	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA281280653 rs779522908	976	A>V		No	ClinGen TOPMed gnomAD
CA395876408 rs1348658977	977	E>D		No	ClinGen gnomAD
rs104895457 CA150320	978	G>E		No	ClinGen ExAC TOPMed gnomAD
CA395876426 rs749533773	980	K>N		No	ClinGen ExAC gnomAD
CA395876438 rs1397558369	982	N>Y		No	ClinGen gnomAD
rs142904241 CA281283301	993	N>D		No	ClinGen ESP gnomAD
rs147750423 CA281283323	993	N>S		No	ClinGen ESP ExAC gnomAD
rs147750423 CA8052042	993	N>T		No	ClinGen ESP ExAC gnomAD
rs1306240431 CA395876700	995	I>T		No	ClinGen TOPMed gnomAD
CA8052043 rs768835583	995	I>V		No	ClinGen ExAC gnomAD
CA395876709 rs1567407613	996	T>N		No	ClinGen Ensembl
rs1238071864 CA395876748	999	G>A		No	ClinGen gnomAD
CA395876744 rs1238071864	999	G>E		No	ClinGen gnomAD
CA395876756 rs1394673170	1000	A>E		No	ClinGen TOPMed
CA395876750 rs1282634444	1000	A>T		No	ClinGen TOPMed gnomAD
rs1486037435 CA395876772	1001	E>D		No	ClinGen gnomAD
CA8052045 rs748277158	1003	L>F		No	ClinGen ExAC gnomAD
rs772487940 CA8052046	1004	L>V		No	ClinGen ExAC gnomAD
rs199883290 CA281283383	1006	A>P		No	ClinGen TOPMed
rs199883290 CA395876824	1006	A>T		No	ClinGen TOPMed
rs761083670 CA8052048	1007	L>F		No	ClinGen ExAC TOPMed gnomAD
CA395876841 rs869147565	1007	L>P		No	ClinGen Ensembl
rs761083670 CA395876837	1007	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8052049 rs771490210	1009	R>G		No	ClinGen ExAC gnomAD
CA395876864 rs1395205447	1009	R>K		No	ClinGen gnomAD
rs367905706 CA8052050	1010	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420000527 CA395876941	1015	E>Q		No	ClinGen TOPMed
rs574467124 CA281283437	1016	V>I		No	ClinGen 1000Genomes
CA8052065 rs146435555	1018	L>F		No	ClinGen ESP ExAC gnomAD
rs771267307 CA8052066	1018	L>R		No	ClinGen ExAC TOPMed gnomAD
rs104895491 CA8052067	1019	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8052069 rs5743295	1019	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM971308 CA8052068 rs5743295	1019	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760568789 CA8052073	1021	N>K		No	ClinGen ExAC gnomAD
rs772890413 CA8052072	1021	N>S		No	ClinGen ExAC gnomAD
CA281285159 rs961472078	1023	F>S		No	ClinGen Ensembl
rs1229880750 CA395877054	1025	L>P		No	ClinGen TOPMed
CA395877057 rs1316474594	1026	E>*		No	ClinGen gnomAD
rs1215899888 CA395877070	1027	E>D		No	ClinGen gnomAD
rs752941888 CA281285162	1028	V>A		No	ClinGen TOPMed
CA395877071 rs1340958111	1028	V>I		No	ClinGen TOPMed
rs1451481984 CA395877096	1031	L>H		No	ClinGen gnomAD
rs147874812 CA395877098	1032	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147874812 CA281285188	1032	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8052076 rs147874812	1032	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281285205 rs942777757	1033	C>F		No	ClinGen TOPMed
CA8052079 rs758469287	1036	T>A		No	ClinGen ExAC gnomAD
CA395877136 rs1389938045	1038	L>I		No	ClinGen gnomAD
rs757653432 CA8052082	1040	L>I		No	ClinGen ExAC TOPMed gnomAD

3 associated diseases with Q9HC29

[MIM: 186580]: Blau syndrome (BLAUS)

An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases. {ECO:0000269|PubMed:11528384, ECO:0000269|PubMed:15459013, ECO:0000269|PubMed:15812565, ECO:0000269|PubMed:19116920, ECO:0000269|PubMed:19169908, ECO:0000269|PubMed:19359344, ECO:0000269|PubMed:19479837, ECO:0000269|PubMed:20199415, ECO:0000269|PubMed:24960071, ECO:0000269|PubMed:25093298, ECO:0000269|PubMed:25692065, ECO:0000269|PubMed:25724124, ECO:0000269|PubMed:27812135}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 266600]: Inflammatory bowel disease 1 (IBD1)

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:11385576, ECO:0000269|PubMed:15024686, ECO:0000269|PubMed:16485124, ECO:0000269|PubMed:24790089, ECO:0000269|PubMed:24960071, ECO:0000269|PubMed:27812135}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 617321]: Yao syndrome (YAOS)

An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance. {ECO:0000269|PubMed:21914217, ECO:0000269|PubMed:26070941}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases. {ECO:0000269|PubMed:11528384, ECO:0000269|PubMed:15459013, ECO:0000269|PubMed:15812565, ECO:0000269|PubMed:19116920, ECO:0000269|PubMed:19169908, ECO:0000269|PubMed:19359344, ECO:0000269|PubMed:19479837, ECO:0000269|PubMed:20199415, ECO:0000269|PubMed:24960071, ECO:0000269|PubMed:25093298, ECO:0000269|PubMed:25692065, ECO:0000269|PubMed:25724124, ECO:0000269|PubMed:27812135}. Note=The disease is caused by variants affecting the gene represented in this entry.
A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:11385576, ECO:0000269|PubMed:15024686, ECO:0000269|PubMed:16485124, ECO:0000269|PubMed:24790089, ECO:0000269|PubMed:24960071, ECO:0000269|PubMed:27812135}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An autoinflammatory disease characterized by periodic fever, dermatitis, polyarthritis, leg swelling, and gastrointestinal and sicca-like symptoms. YAOS is a complex disease with multifactorial inheritance. {ECO:0000269|PubMed:21914217, ECO:0000269|PubMed:26070941}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

8 regional properties for Q9HC29

Type	Name	Position	InterPro Accession
domain	CARD domain	26 - 120	IPR001315-1
domain	CARD domain	134 - 218	IPR001315-2
repeat	Leucine-rich repeat	898 - 920	IPR001611-1
repeat	Leucine-rich repeat	927 - 948	IPR001611-2
repeat	Leucine-rich repeat	981 - 1005	IPR001611-3
domain	NACHT nucleoside triphosphatase	293 - 462	IPR007111
domain	NOD2, winged helix domain	546 - 587	IPR041075
domain	NACHT, LRR and PYD domains-containing protein, helical domain HD2	603 - 757	IPR041267

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Lipid-anchor Basolateral cell membrane Cytoplasm Mitochondrion	Palmitoylation promotes localization to the cell membrane, where it detects bacterial invasion at the point of entry
PANTHER Family	PTHR24106	NACHT, LRR AND CARD DOMAINS-CONTAINING
PANTHER Subfamily	PTHR24106:SF64	NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN-CONTAINING PROTEIN 2
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
anchored component of plasma membrane	The component of the plasma membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group, that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

11 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
CARD domain binding	Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
Hsp70 protein binding	Binding to a Hsp70 protein, heat shock proteins around 70kDa in size.
Hsp90 protein binding	Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
muramyl dipeptide binding	Interacting selectively and non-covalently, in a non-covalent manner, with muramyl dipeptide; muramyl dipeptide is derived from peptidoglycan.
pattern recognition receptor activity	Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response.
peptidoglycan binding	Interacting selectively and non-covalently, in a non-covalent manner, with peptidoglycan, any of a class of glycoconjugates found in bacterial cell walls.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein-containing complex binding	Binding to a macromolecular complex.

69 GO annotations of biological process

Name	Definition
activation of immune response	Any process that initiates an immune response.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to muramyl dipeptide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.
cellular response to organic cyclic compound	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 organic cyclic compound stimulus.
cellular response to peptidoglycan	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptidoglycan stimulus. Peptidoglycan is a bacterial cell wall macromolecule.
defense response	Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
detection of bacterium	The series of events in which a stimulus from a bacterium is received and converted into a molecular signal.
detection of biotic stimulus	The series of events in which a biotic stimulus, one caused or produced by a living organism, is received and converted into a molecular signal.
detection of muramyl dipeptide	The series of events in which a muramyl dipeptide stimulus is received by a cell and converted into a molecular signal. Muramyl dipeptide is derived from peptidoglycan.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
innate immune response in mucosa	Any process of the innate immune response that takes place in the mucosal tissues.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
maintenance of gastrointestinal epithelium	Protection of epithelial surfaces of the gastrointestinal tract from proteolytic and caustic digestive agents.
negative regulation of inflammatory response to antigenic stimulus	Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.
negative regulation of interferon-gamma production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
negative regulation of interleukin-12 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production.
negative regulation of interleukin-18 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-18 production.
negative regulation of interleukin-2 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production.
negative regulation of macrophage apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage apoptotic process.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of T cell mediated immunity	Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity.
negative regulation of toll-like receptor 2 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 2 signaling pathway.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
nucleotide-binding oligomerization domain containing 2 signaling pathway	The series of molecular signals initiated by the binding of a ligand (such as a bacterial peptidoglycan) to a cytoplasmic nucleotide-binding oligomerization domain containing 2 (NOD2) protein receptor, and ending with regulation of a downstream cellular process.
pattern recognition receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a pattern recognition receptor (PRR), and ending with the regulation of a downstream cellular process, e.g. transcription. PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species, or damage-associated molecular pattern (DAMPs), endogenous molecules released from damaged cells.
positive regulation of B cell activation	Any process that activates or increases the frequency, rate or extent of B cell activation.
positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria	Any process that activates or increases the frequency, rate, or extent of biosynthesis of antibacterial peptides active against Gram-positive bacteria.
positive regulation of cytokine production involved in immune response	Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response.
positive regulation of cytokine production involved in inflammatory response	Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response.
positive regulation of dendritic cell antigen processing and presentation	Any process that activates or increases the frequency, rate, or extent of dendritic cell antigen processing and presentation.
positive regulation of dendritic cell cytokine production	Any process that activates or increases the frequency, rate, or extent of dendritic cell cytokine production.
positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of gamma-delta T cell activation	Any process that activates or increases the frequency, rate or extent of gamma-delta T cell activation.
positive regulation of humoral immune response mediated by circulating immunoglobulin	Any process that activates or increases the frequency, rate, or extent of a humoral immune response mediated by circulating immunoglobulin.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of innate immune response	Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
positive regulation of interleukin-10 production	Any process that activates or increases the frequency, rate, or extent of interleukin-10 production.
positive regulation of interleukin-12 production	Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
positive regulation of interleukin-17 production	Any process that activates or increases the frequency, rate, or extent of production of any member of the interleukin-17 family of cytokines.
positive regulation of interleukin-6 production	Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of interleukin-8 production	Any process that activates or increases the frequency, rate, or extent of interleukin-8 production.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of monocyte chemotactic protein-1 production	Any process that activates or increases the frequency, rate, or extent of production of monocyte chemotactic protein-1.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of NIK/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of nitric-oxide synthase biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a nitric oxide synthase enzyme.
positive regulation of Notch signaling pathway	Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.
positive regulation of oxidoreductase activity	Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of prostaglandin-E synthase activity	Any process that activates or increases the frequency, rate or extent of prostaglandin-E synthase activity.
positive regulation of prostaglandin-endoperoxide synthase activity	Any process that increases the rate, frequency or extent of prostaglandin-endoperoxide synthase activity. Prostaglandin-endoperoxide synthase activity is the catalysis of the reaction: arachidonate + donor-H2 + 2 O2 = prostaglandin H2 + acceptor + H2O.
positive regulation of protein K63-linked ubiquitination	Any process that activates or increases the frequency, rate or extent of protein K63-linked ubiquitination.
positive regulation of stress-activated MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive regulation of type 2 immune response	Any process that activates or increases the frequency, rate, or extent of a type 2 immune response.
positive regulation of xenophagy	Any process that activates or increases the frequency, rate or extent of xenophagy.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
regulation of neutrophil chemotaxis	Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
response to exogenous dsRNA	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 an exogenous double-stranded RNA stimulus.
response to muramyl dipeptide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.
response to nutrient	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 a nutrient stimulus.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6E804	NOD2	Nucleotide-binding oligomerization domain-containing protein 2	Bos taurus (Bovine)	SS
Q53B87	NOD2	Nucleotide-binding oligomerization domain-containing protein 2	Pan troglodytes (Chimpanzee)	SS
Q8K3Z0	Nod2	Nucleotide-binding oligomerization domain-containing protein 2	Mus musculus (Mouse)	EV

10	20	30	40	50	60
MGEEGGSASH	DEEERASVLL	GHSPGCEMCS	QEAFQAQRSQ	LVELLVSGSL	EGFESVLDWL
70	80	90	100	110	120
LSWEVLSWED	YEGFHLLGQP	LSHLARRLLD	TVWNKGTWAC	QKLIAAAQEA	QADSQSPKLH
130	140	150	160	170	180
GCWDPHSLHP	ARDLQSHRPA	IVRRLHSHVE	NMLDLAWERG	FVSQYECDEI	RLPIFTPSQR
190	200	210	220	230	240
ARRLLDLATV	KANGLAAFLL	QHVQELPVPL	ALPLEAATCK	KYMAKLRTTV	SAQSRFLSTY
250	260	270	280	290	300
DGAETLCLED	IYTENVLEVW	ADVGMAGPPQ	KSPATLGLEE	LFSTPGHLND	DADTVLVVGE
310	320	330	340	350	360
AGSGKSTLLQ	RLHLLWAAGQ	DFQEFLFVFP	FSCRQLQCMA	KPLSVRTLLF	EHCCWPDVGQ
370	380	390	400	410	420
EDIFQLLLDH	PDRVLLTFDG	FDEFKFRFTD	RERHCSPTDP	TSVQTLLFNL	LQGNLLKNAR
430	440	450	460	470	480
KVVTSRPAAV	SAFLRKYIRT	EFNLKGFSEQ	GIELYLRKRH	HEPGVADRLI	RLLQETSALH
490	500	510	520	530	540
GLCHLPVFSW	MVSKCHQELL	LQEGGSPKTT	TDMYLLILQH	FLLHATPPDS	ASQGLGPSLL
550	560	570	580	590	600
RGRLPTLLHL	GRLALWGLGM	CCYVFSAQQL	QAAQVSPDDI	SLGFLVRAKG	VVPGSTAPLE
610	620	630	640	650	660
FLHITFQCFF	AAFYLALSAD	VPPALLRHLF	NCGRPGNSPM	ARLLPTMCIQ	ASEGKDSSVA
670	680	690	700	710	720
ALLQKAEPHN	LQITAAFLAG	LLSREHWGLL	AECQTSEKAL	LRRQACARWC	LARSLRKHFH
730	740	750	760	770	780
SIPPAAPGEA	KSVHAMPGFI	WLIRSLYEMQ	EERLARKAAR	GLNVGHLKLT	FCSVGPTECA
790	800	810	820	830	840
ALAFVLQHLR	RPVALQLDYN	SVGDIGVEQL	LPCLGVCKAL	YLRDNNISDR	GICKLIECAL
850	860	870	880	890	900
HCEQLQKLAL	FNNKLTDGCA	HSMAKLLACR	QNFLALRLGN	NYITAAGAQV	LAEGLRGNTS
910	920	930	940	950	960
LQFLGFWGNR	VGDEGAQALA	EALGDHQSLR	WLSLVGNNIG	SVGAQALALM	LAKNVMLEEL
970	980	990	1000	1010	1020
CLEENHLQDE	GVCSLAEGLK	KNSSLKILKL	SNNCITYLGA	EALLQALERN	DTILEVWLRG
1030
NTFSLEEVDK	LGCRDTRLLL