AiPD: Autoinhibited Protein Database

Q9UN74

Gene name	PCDHA4
Protein name	Protocadherin alpha-4
Names	PCDH-alpha-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56144
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

734-812 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

734-812 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9UN74

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UN74-F1	Predicted				AlphaFoldDB

977 variants for Q9UN74

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	804	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1193581324	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361457151 CA361281985	2	E>A		No	ClinGen TOPMed
CA3446818 rs782121234	4	S>P		No	ClinGen ExAC
rs1562206612 CA361282118	6	G>R		No	ClinGen Ensembl
CA3446820 rs782751422	7	S>G		No	ClinGen ExAC gnomAD
CA128375453 rs782421232	8	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782421232 CA3446821	8	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3446822 COSM3428969 rs147378308	10	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1554123800 CA361282279	11	S>Y		No	ClinGen gnomAD
CA361282316 rs1562206749	13	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs782807464 CA3446824	16	L>R		No	ClinGen ExAC
CA3446825 rs781879266	17	L>*		No	ClinGen ExAC TOPMed gnomAD
CA361282451 rs781879266	17	L>S		No	ClinGen ExAC TOPMed gnomAD
CA3446827 rs782505608	18	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782505608 CA361282501	18	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361282594 rs1554123817	20	L>R		No	ClinGen gnomAD
rs782639557 CA3446829	21	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782583105 COSM420382 CA3446832	22	A>T	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1367583489 CA361282699	23	A>T		No	ClinGen TOPMed gnomAD
rs138132729 CA3446833	24	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446834 rs782426458	25	E>K		No	ClinGen ExAC gnomAD
TCGA novel	26	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782375351 CA3446837	29	G>D		No	ClinGen ExAC gnomAD
rs781978494 CA3446838	30	Q>*		No	ClinGen ExAC gnomAD
CA3446839 rs782310722	31	L>P		No	ClinGen TOPMed
rs782331571 CA3446842	33	Y>C		No	ClinGen ExAC gnomAD
rs782029376 CA3446843	34	S>*		No	ClinGen ExAC gnomAD
rs1470270680 CA361283176	35	V>G		No	ClinGen TOPMed
rs782145999 CA3446845	36	S>P		No	ClinGen ExAC TOPMed gnomAD
rs782145999 CA3446844	36	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3446846 rs528454810	37	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1554123853 CA361283270	38	E>D		No	ClinGen gnomAD
rs983753227 CA128375481	39	A>D		No	ClinGen Ensembl
CA3446847 rs189135254	39	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3446848 rs782721399	40	K>R		No	ClinGen ExAC gnomAD
rs1554123871 CA361283343	41	H>P		No	ClinGen gnomAD
rs1554123873 CA361283348	41	H>Q		No	ClinGen gnomAD
rs1554123867 CA361283328	41	H>Y		No	ClinGen gnomAD
CA3446850 rs781800843	42	G>C		No	ClinGen ExAC gnomAD
CA3446849 rs781800843	42	G>R		No	ClinGen ExAC gnomAD
CA3446851 rs782815519	43	T>N		No	ClinGen ExAC TOPMed gnomAD
rs782522800 CA3446853	47	R>G		No	ClinGen ExAC gnomAD
CA128375486 rs199939862	47	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA361283569 rs1286013089	49	A>G		No	ClinGen TOPMed gnomAD
rs782649273 CA3446855	49	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1061910 CA3446854 rs782649273	49	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361283603 rs1554123887	50	Q>P		No	ClinGen gnomAD
rs1554123890 CA361283618	51	D>N		No	ClinGen gnomAD
VAR_059180 CA3446860 rs11167605	55	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1279167584 CA361283739	55	E>K		No	ClinGen TOPMed gnomAD
rs1279167584 CA361283740	55	E>Q		No	ClinGen TOPMed gnomAD
rs918123295 CA128375490	56	L>P		No	ClinGen TOPMed
CA128375492 rs949440782	57	A>E		No	ClinGen Ensembl
CA361283789 rs1303898166	57	A>S		No	ClinGen TOPMed
CA361283880 rs1554123903	59	L>P		No	ClinGen TOPMed
CA3446861 rs145024223	59	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446863 rs782357546	61	P>L		No	ClinGen ExAC gnomAD
rs782241518 CA3446862	61	P>S		No	ClinGen ExAC gnomAD
CA361283968 rs1554123909	62	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782704946 CA3446866	64	F>L		No	ClinGen ExAC
CA3446868 rs148298330	65	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446867 rs148298330	65	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446869 rs782782841	66	V>M		No	ClinGen ExAC
CA3446872 rs782494406	67	A>E		No	ClinGen ExAC
CA3446871 rs782494406	67	A>G		No	ClinGen ExAC
CA3446870 rs781857589	67	A>T		No	ClinGen ExAC gnomAD
CA3446873 rs781811191	68	S>A		No	ClinGen ExAC gnomAD
rs781811191 CA3446874	68	S>P		No	ClinGen ExAC gnomAD
rs782668937 CA3446876	68	S>Y		No	ClinGen ExAC gnomAD
CA3446885 CA3446884 rs3822355	69	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs3822354 CA3446888	70	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446892 rs782005139	70	G>D		No	ClinGen ExAC
rs3822354 CA3446889	70	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562208248 CA917595094	70	G>RHRD		No	ClinGen Ensembl
rs3822354 CA3446886	70	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs3822352 CA3446901	71	R>H		No	ClinGen ExAC TOPMed
rs782120489 CA3446899	71	R>S		No	ClinGen ExAC
rs1554123969 CA361284328	72	G>E		No	ClinGen gnomAD
COSM736316 rs3822351 CA3446907	72	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554123969 CA3446908	72	G>V		No	ClinGen gnomAD
CA3446914 rs17844273	73	G>D		No	ClinGen ExAC TOPMed gnomAD
CA128375531 rs201303975	73	G>S		No	ClinGen Ensembl
CA361284398 rs1554123978	74	L>F		No	ClinGen gnomAD
rs781879496 CA3446919	75	L>M		No	ClinGen ExAC gnomAD
CA361284474 rs1554124003	76	E>V		No	ClinGen gnomAD
CA3446920 rs782121497	77	V>A		No	ClinGen ExAC gnomAD
TCGA novel	77	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226782734 CA361284522	78	N>H		No	ClinGen TOPMed
rs782749843 CA361284547	79	L>M		No	ClinGen ExAC gnomAD
CA361284644 rs1554124008	82	G>C		No	ClinGen gnomAD
COSM1061912 CA361284650 rs1554124011	82	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361284654 rs1554124011	82	G>V		No	ClinGen gnomAD
rs1325948776 CA361284706	85	F>L		No	ClinGen TOPMed gnomAD
CA3446922 rs781837563	86	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361284802 rs1554124019	88	S>Y		No	ClinGen gnomAD
CA361284825 rs1223020779	89	R>L		No	ClinGen TOPMed
CA361284812 rs1562209141	89	R>W		No	ClinGen Ensembl
TCGA novel	91	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361284881 rs1554124027	91	D>G		No	ClinGen gnomAD
TCGA novel	91	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446924 rs782581382	93	E>G		No	ClinGen ExAC gnomAD
rs546275072 CA3446925	94	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA361285033 rs1554124044	96	C>*		No	ClinGen gnomAD
rs1554124037 CA361285011	96	C>S		No	ClinGen gnomAD
CA361285019 rs1554124040	96	C>Y		No	ClinGen gnomAD
rs3822348 CA3446927	97	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111900306 CA3446928	97	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs111900306 CA128375545	97	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446929 rs528503686	98	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs371525794 CA3446930	99	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782221460 COSM373843 CA3446932	99	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs371525794 CA361285099	99	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581685222 CA361285120 COSM1061914	100	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs782333816 CA3446933	100	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128375550 rs1053803675	101	E>K		No	ClinGen Ensembl
rs1581685310 CA361285180	102	C>G		No	ClinGen Ensembl
CA3446934 rs370847724	103	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361285312 rs1581685370	106	L>V		No	ClinGen Ensembl
TCGA novel	107	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361285324 rs1581685398	107	E>K		No	ClinGen Ensembl
rs1554124059 CA361285371	108	V>L		No	ClinGen gnomAD
rs782377477 CA3446936	110	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361285413 rs1554124060	110	V>I		No	ClinGen gnomAD
CA3446938 rs782091040	111	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361285483 rs1554124063	112	R>K		No	ClinGen gnomAD
rs1187036014 CA361285516	112	R>S		No	ClinGen TOPMed
rs367896801 CA3446941	113	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446940 rs367896801	113	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	113	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446942 rs782811341	116	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782811341 CA361285658	116	V>G		No	ClinGen ExAC TOPMed gnomAD
CA361285704 rs1462796300	118	H>Y		No	ClinGen TOPMed
CA3446944 rs782531959	120	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3446945 rs782626216	121	V>E		No	ClinGen ExAC gnomAD
CA361285820 rs1554124073	121	V>M		No	ClinGen gnomAD
CA361285872 rs1310483262	122	E>G		No	ClinGen TOPMed gnomAD
CA361285853 rs1209745292	122	E>Q		No	ClinGen TOPMed
CA361285896 rs1554124077	123	V>A		No	ClinGen gnomAD
CA361285903 rs1554124077	123	V>G		No	ClinGen gnomAD
rs561978404 CA3446946	124	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150847383 CA3446947	124	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361285954 rs1554124081	125	D>N		No	ClinGen gnomAD
CA128375560 rs200997832	126	I>L		No	ClinGen TOPMed gnomAD
rs782590169 CA3446948	127	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1562210104 CA361286049	128	D>G		No	ClinGen Ensembl
rs952470653 CA128375562	128	D>H		No	ClinGen gnomAD
CA361286083 rs371480931	129	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446950 rs782430238	129	N>T		No	ClinGen ExAC gnomAD
CA361286128 rs1355762346	131	P>L		No	ClinGen TOPMed gnomAD
rs1355762346 CA361286124	131	P>Q		No	ClinGen TOPMed gnomAD
CA361286127 rs1355762346	131	P>R		No	ClinGen TOPMed gnomAD
rs138189439 CA3446955 CA3446954	132	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs76522243 CA3446956	133	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446958 rs782149681	133	F>L		No	ClinGen ExAC gnomAD
rs76522243 CA3446957	133	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446959 rs146575746	134	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446960 rs146575746	134	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482430512 CA361286209	135	A>V		No	ClinGen TOPMed
rs141030691 CA3446962	136	T>I		No	ClinGen ESP ExAC gnomAD
rs141030691 CA361286260	136	T>R		No	ClinGen ESP ExAC gnomAD
CA361286250 rs1554124116	136	T>S		No	ClinGen gnomAD
CA361286274 rs1342022968	137	Q>*		No	ClinGen TOPMed
CA3446964 rs144914662	137	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446963 rs144914662	137	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144914662 CA3446965	137	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375080438 CA361288382 COSM1433777	138	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361288388 rs1554124134	139	N>D		No	ClinGen gnomAD
CA361288403 rs1554124143	140	L>Q		No	ClinGen gnomAD
CA361288410 rs782498556	141	S>A		No	ClinGen ExAC TOPMed gnomAD
rs554905188 CA3446969	141	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554905188 CA3446968	141	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446967 rs782498556	141	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	141	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361288407 rs782498556	141	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3446970 rs782442126	142	I>F		No	ClinGen ExAC gnomAD
CA3446971 rs782576297	142	I>S		No	ClinGen ExAC TOPMed gnomAD
CA361288418 rs782442126	142	I>V		No	ClinGen ExAC gnomAD
rs781997820 CA3446975 COSM589680	143	A>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782288256 CA3446973	143	A>S		No	ClinGen ExAC gnomAD
rs782288256 CA3446972	143	A>T		No	ClinGen ExAC gnomAD
rs781997820 CA3446974	143	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1177804428 CA361288449	144	E>A		No	ClinGen TOPMed gnomAD
rs1177804428 CA361288455	144	E>G		No	ClinGen TOPMed gnomAD
rs781954870 CA3446977	145	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA128376109 rs1042588198	146	R>G		No	ClinGen Ensembl
rs148605499 CA3446979	149	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360812183 CA361288572	151	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361288565 rs1554124171	151	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361288619 rs1554124177	155	E>G		No	ClinGen gnomAD
CA361288613 rs1265160287	155	E>Q		No	ClinGen TOPMed
CA361288638 rs1243114134	156	G>D		No	ClinGen TOPMed gnomAD
CA361288653 rs1554124181	157	A>D		No	ClinGen gnomAD
CA3446981 rs782156904	157	A>T		No	ClinGen ExAC gnomAD
rs1307238729 CA361288674	158	S>L		No	ClinGen TOPMed
CA3446985 COSM1696256 rs782724169	159	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782656312 CA3446988	161	D>A		No	ClinGen ExAC TOPMed gnomAD
CA128376124 rs557317357	161	D>E		No	ClinGen 1000Genomes gnomAD
CA3446987 rs782562100	161	D>N		No	ClinGen ExAC gnomAD
CA3446989 rs151175650	162	I>T		No	ClinGen ESP TOPMed gnomAD
CA3446992 CA128376131 rs782061737	163	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782061737 CA3446991	163	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782620777 CA3446993	164	E>K		No	ClinGen ExAC TOPMed gnomAD
CA128376138 rs575783501	165	N>D		No	ClinGen 1000Genomes
rs782331104 CA3446995	165	N>K		No	ClinGen ExAC gnomAD
rs782583674 CA3446997	166	A>D		No	ClinGen ExAC TOPMed gnomAD
rs782583674 CA3446996	166	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1364213662 COSM205053 CA361288806	166	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3446999 rs782423945	167	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3446998 rs782423945	167	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA3447000 rs782423945	167	L>R		No	ClinGen ExAC TOPMed gnomAD
rs782338202 CA3447001	168	L>F		No	ClinGen ExAC gnomAD
rs781931129 CA3447002	169	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1490645074 CA361288857	169	T>I		No	ClinGen TOPMed
CA361288887 rs1267301172	171	R>K		No	ClinGen TOPMed
rs1554124214 CA361288931	173	S>R		No	ClinGen Ensembl
TCGA novel	174	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562211808 CA361288944	174	P>S		No	ClinGen Ensembl
rs782047750 CA3447004	175	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3447005 rs782799049	176	E>K		No	ClinGen ExAC gnomAD
rs781885240 CA3447006	177	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3447007 rs782125773	178	F>S		No	ClinGen ExAC gnomAD
rs369564705 CA3447008	179	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369564705 CA3447009 COSM448737	179	S>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA128376181 rs533049370	180	L>P		No	ClinGen TOPMed gnomAD
rs1554124228 CA361289072	181	E>A		No	ClinGen gnomAD
rs781794809 CA3447012	183	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3447013 rs3822346 VAR_024390	184	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554124240 CA361289177	185	D>E		No	ClinGen gnomAD
CA361289183 rs1383891964	186	D>N		No	ClinGen TOPMed
CA3447015 rs782266398	187	E>K		No	ClinGen ExAC gnomAD
CA3447017 rs782346248	188	L>V		No	ClinGen ExAC gnomAD
TCGA novel	189	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319661297 CA361289329	190	K>N		No	ClinGen TOPMed
TCGA novel	191	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	193	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs529738408 CA3447019	194	L>I		No	ClinGen ExAC gnomAD
rs782033818 CA3447020	195	I>T		No	ClinGen ExAC gnomAD
CA361289440 rs1178619077	197	R>W		No	ClinGen TOPMed
CA361289464 rs1562212438	198	K>E		No	ClinGen Ensembl
rs782393420 CA3447022	199	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782393420 CA3447023	199	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA361289526 rs1554124270	200	L>S		No	ClinGen Ensembl
CA3447024 rs369163231	201	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554124276 CA361289588	202	R>K		No	ClinGen gnomAD
CA3447025 rs782723382	203	E>G		No	ClinGen ExAC gnomAD
rs1554124277 CA361289601	203	E>K		No	ClinGen gnomAD
rs573341314 CA3447026	204	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs782056776 CA361289645	205	A>D		No	ClinGen ExAC TOPMed gnomAD
CA361289648 rs782056776	205	A>G		No	ClinGen ExAC TOPMed gnomAD
rs782056776 CA3447027	205	A>V		No	ClinGen ExAC TOPMed gnomAD
rs370687848 CA3447028	206	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361289654 rs1554124282	206	P>S		No	ClinGen gnomAD
CA361289679 rs1262793743	207	E>A		No	ClinGen TOPMed
rs992908265 CA128376224	207	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA361289670 rs1554124286	207	E>K		No	ClinGen gnomAD
rs781897114 CA3447030	208	I>V		No	ClinGen ExAC TOPMed
CA3447031 rs372699466 CA3447032	210	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782733777	210	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3447033 rs781816070	212	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs562041682 CA128376233	213	T>I		No	ClinGen 1000Genomes
CA3447034 rs782460121	214	A>T		No	ClinGen ExAC gnomAD
CA361289835 rs1554124299	215	T>S		No	ClinGen gnomAD
rs1272639969 CA361289859	216	D>G		No	ClinGen TOPMed
rs782293476 CA3447036	217	G>V		No	ClinGen ExAC gnomAD
CA3447037 rs782535026	219	K>N		No	ClinGen ExAC TOPMed gnomAD
rs782647653 CA3447038	220	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3447040 rs782354184	221	E>*		No	ClinGen ExAC gnomAD
CA128376250 rs924127496	223	T>P		No	ClinGen Ensembl
rs782193088 CA3447042	224	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3447044 rs529221273	226	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529221273 CA3447043	226	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782155979 CA3447045	227	Q>K		No	ClinGen ExAC gnomAD
CA3447046 rs782786124	227	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361290038 rs782786124	227	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs781990148 CA3447047	230	I>N		No	ClinGen ExAC gnomAD
rs781990148 CA361290082	230	I>T		No	ClinGen ExAC gnomAD
CA3447049 rs782074587	233	L>V		No	ClinGen ExAC gnomAD
CA3447050 rs782700290	234	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	234	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3447052 rs141163311	236	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs781785947 CA3447051	236	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1391356364 CA361290196	238	N>H		No	ClinGen TOPMed
rs782791250 CA3447053	239	A>V		No	ClinGen ExAC gnomAD
rs901067818 CA128376270	241	A>G		No	ClinGen Ensembl
CA361290242 rs781869651	241	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3447054 rs781869651	241	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3447055 rs544486989	242	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA361290297 rs1554124343	244	R>I		No	ClinGen gnomAD
rs1245397116 CA361290329	246	I>S		No	ClinGen TOPMed
CA3447056 rs782616860	246	I>V		No	ClinGen ExAC gnomAD
CA128376277 rs929919942	247	Y>D		No	ClinGen Ensembl
rs782209478 CA3447057	249	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782467097 CA3447058	250	R>S		No	ClinGen ExAC gnomAD
TCGA novel	254	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128376280 rs1046867611	254	N>I		No	ClinGen gnomAD
COSM1261267 rs1046867611 CA361290460	254	N>S	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3447059 rs201004244	255	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554124359 CA361290504	257	N>H		No	ClinGen gnomAD
rs1554124363 CA361290510	257	N>S		No	ClinGen gnomAD
rs782007660 CA3447062	258	G>E		No	ClinGen ExAC gnomAD
rs782778842 CA128376290	260	L>S		No	ClinGen Ensembl
rs782254119 CA3447063	261	V>I		No	ClinGen ExAC gnomAD
rs533157814 CA3447064	263	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA361290607 rs1554124372	264	L>P		No	ClinGen gnomAD
rs1226145828 CA361290632	265	N>K		No	ClinGen TOPMed
rs782039700 CA3447066	266	A>S		No	ClinGen ExAC gnomAD
rs782039700 COSM1219581 CA3447067	266	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361290706 rs1562213724	270	D>E		No	ClinGen Ensembl
rs782760377 CA3447070	271	E>*		No	ClinGen ExAC gnomAD
rs1554124378 CA361290722	271	E>G		No	ClinGen gnomAD
rs1554124378 CA361290719	271	E>V		No	ClinGen gnomAD
CA361290729 rs1361329408	272	G>R		No	ClinGen TOPMed gnomAD
rs782472547 CA3447072	274	N>S		No	ClinGen ExAC gnomAD
TCGA novel	276	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361290787 rs1554124383	276	D>N		No	ClinGen Ensembl
TCGA novel	276	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128376311 rs1034066064	279	Y>C		No	ClinGen gnomAD
CA128376312 rs894226216	281	F>S		No	ClinGen Ensembl
CA3447073 COSM1061930 rs782714684	282	S>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA361290885 COSM448741 rs782714684	282	S>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs1562213945 CA361290890	283	N>D		No	ClinGen Ensembl
rs1340097286 CA361290910	284	D>H		No	ClinGen TOPMed gnomAD
rs781791401 CA3447074 COSM1433779	286	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1393234929 CA361291023	290	K>I		No	ClinGen TOPMed gnomAD
CA361291067 rs1554124407	293	F>L		No	ClinGen gnomAD
rs1554124409 CA361291081	293	F>L		No	ClinGen gnomAD
CA361291070 rs1554124407	293	F>V		No	ClinGen gnomAD
TCGA novel	294	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3447078 rs377697994	296	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	296	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	297	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562214124 CA361291143	297	P>S		No	ClinGen Ensembl
CA361291162 rs782221936	298	I>M		No	ClinGen ExAC gnomAD
CA3447079 rs59233330	298	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581690509 CA361291167	299	T>A		No	ClinGen Ensembl
CA3447083 rs782294172	302	I>S		No	ClinGen ExAC TOPMed gnomAD
rs782373131 CA3447084	303	I>N		No	ClinGen ExAC gnomAD
CA3447085 rs782004795	304	V>I		No	ClinGen ExAC gnomAD
rs148933348 CA361291274	305	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145409201 CA3447087	307	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361291311 rs145409201	307	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781921257 CA3447088	308	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3447089 rs782066312	309	D>A		No	ClinGen ExAC TOPMed gnomAD
rs782793067 CA3447090	310	F>L		No	ClinGen ExAC gnomAD
TCGA novel	312	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361291425 rs1554124422	313	S>N		No	ClinGen gnomAD
rs1554124423 CA361291443	314	K>I		No	ClinGen gnomAD
CA361291479 rs1202926318	316	Y>*		No	ClinGen TOPMed gnomAD
CA128376340 rs17844278	316	Y>C		No	ClinGen TOPMed
CA3447093 rs782108978	316	Y>H		No	ClinGen ExAC gnomAD
CA361291473 rs17844278	316	Y>S		No	ClinGen TOPMed
TCGA novel	317	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361291483 rs868911123	317	E>K		No	ClinGen Ensembl
rs782764384 CA3447094	318	I>V		No	ClinGen ExAC gnomAD
rs782479156 CA361291545	321	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782479156 CA3447096	321	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1292142612 CA361291577	323	I>V		No	ClinGen TOPMed gnomAD
CA361291619 rs1554124432	325	K>T		No	ClinGen gnomAD
CA361291641 rs1282618678	326	G>A		No	ClinGen TOPMed
rs1355843543 CA361291636	326	G>R		No	ClinGen TOPMed
CA361291646 rs1554124439	327	Q>*		No	ClinGen gnomAD
CA361291699 rs868976619	330	L>F		No	ClinGen Ensembl
CA3447099 rs782558494	330	L>P		No	ClinGen ExAC gnomAD
CA3447100 rs782647325	331	S>P		No	ClinGen ExAC gnomAD
rs782610577 CA3447103	335	R>K		No	ClinGen ExAC gnomAD
rs782183352 CA3447104	337	I>V		No	ClinGen ExAC gnomAD
rs1554124450 CA361291844	339	E>A		No	ClinGen gnomAD
rs1307561739 CA361291917	343	N>S		No	ClinGen TOPMed gnomAD
rs782019485 CA3447107 CA361291946	344	N>K		No	ClinGen ExAC TOPMed gnomAD
rs566917401 CA3447108 COSM1061934	345	D>G	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed
CA361291951 COSM1671930 rs868947123	345	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA361291977 rs1554124464	346	N>S		No	ClinGen gnomAD
rs781997351 CA3447110	347	V>I		No	ClinGen ExAC gnomAD
rs1554124466 CA361292020	349	D>H		No	ClinGen gnomAD
rs1554124466 CA361292022	349	D>Y		No	ClinGen gnomAD
CA3447112 rs782073984	350	L>S		No	ClinGen ExAC gnomAD
CA361292135 rs1554124470	355	L>S		No	ClinGen Ensembl
rs1412132205 CA361292183	358	P>L		No	ClinGen TOPMed
CA3447116 rs782815888	359	I>N		No	ClinGen ExAC TOPMed gnomAD
rs557642190 CA3447115	359	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3447119 rs569401882	361	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA3447121 rs781840422	363	A>S		No	ClinGen ExAC gnomAD
CA3447122 rs782433046	363	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3447124 rs138396244	366	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3447125 rs138396244	366	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361292305 rs367717209	366	G>R		No	ClinGen ESP TOPMed gnomAD
CA128376403 rs367717209	366	G>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	368	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128376416 rs942791264	369	I>M		No	ClinGen TOPMed gnomAD
CA361292366 rs1286163937 COSM736312	370	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3447127 rs782259868	372	I>V		No	ClinGen ExAC gnomAD
rs782336917 CA3447128	376	D>N		No	ClinGen ExAC gnomAD
TCGA novel	378	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226675581 CA361292505	379	M>V		No	ClinGen TOPMed
CA361292526 rs1347522156	380	G>C		No	ClinGen TOPMed gnomAD
CA3447129 rs781960345	381	V>D		No	ClinGen ExAC gnomAD
CA3447130 rs782169287	382	N>H		No	ClinGen ExAC TOPMed gnomAD
CA361292582 rs1554124486	383	G>A		No	ClinGen gnomAD
CA3447133 rs782123040	385	V>F		No	ClinGen ExAC gnomAD
rs1554124492 COSM1197720 CA361292694	390	T>M	lung large_intestine urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1554124493 CA361292704	391	S>F		No	ClinGen gnomAD
rs1562215791 CA361292724	392	H>Q		No	ClinGen Ensembl
CA3447134 rs76650315	393	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128376422 rs76650315	393	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361292732 rs76650315	393	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1156251617 CA361292760	395	F>L		No	ClinGen TOPMed gnomAD
CA3447135 rs781953754	395	F>L		No	ClinGen ExAC gnomAD
CA361292770 rs1481118058	396	K>E		No	ClinGen TOPMed gnomAD
CA3447136 rs782097459	396	K>R		No	ClinGen ExAC gnomAD
CA361292783 rs1425307568	398	V>L		No	ClinGen TOPMed gnomAD
rs782708840 CA3447137	399	S>P		No	ClinGen ExAC gnomAD
CA3447138 rs534285783	400	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1554124507 CA361292795	400	T>I		No	ClinGen gnomAD
rs534285783 CA3447139	400	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1554124511 CA361292799	401	F>Y		No	ClinGen gnomAD
rs782801164 CA3447140	402	K>N		No	ClinGen ExAC gnomAD
rs781853303 CA3447141	404	Y>C		No	ClinGen ExAC gnomAD
rs781853303 CA3447142	404	Y>S		No	ClinGen ExAC gnomAD
rs555840522 CA3447144	405	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs143891810 CA3447146	406	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361292833 rs1190545218	406	S>P		No	ClinGen TOPMed gnomAD
CA361292844 rs1554124521	408	V>M		No	ClinGen gnomAD
rs1554124523 CA361292854	409	L>Q		No	ClinGen gnomAD
rs1209126629 CA361292861	410	D>G		No	ClinGen TOPMed
rs782218183 CA3447150	411	S>N		No	ClinGen ExAC gnomAD
CA3447153 rs147309851	412	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361292894 rs1554124528	412	A>S		No	ClinGen gnomAD
CA3447152 rs147309851	412	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782400993 CA3447154	415	R>C		No	ClinGen ExAC gnomAD
rs782400993 CA361292940	415	R>G		No	ClinGen ExAC gnomAD
rs1554124539 CA361292943	415	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA128376435 rs781860086	417	S>I		No	ClinGen gnomAD
rs7702779 CA3447158	417	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM249070 rs372913069 CA128376438	418	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3447160 rs782693036	420	A>D		No	ClinGen ExAC TOPMed gnomAD
CA361293020 rs1219099901	420	A>S		No	ClinGen TOPMed
CA361293026 rs782693036	420	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554124549 CA361293030	421	Y>H		No	ClinGen gnomAD
COSM1161515 rs781801609 CA3447161	422	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	424	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361293079 rs1554124562	424	V>M		No	ClinGen gnomAD
CA3447166 rs368557415	426	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM736308 CA3447168 rs559892183	428	R>*	lung haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA361293165 rs1554124581	430	G>E		No	ClinGen gnomAD
CA361293163 CA361293158 rs1359220357	430	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs782290463 CA3447172	431	G>D		No	ClinGen ExAC gnomAD
CA3447171 rs782669465	431	G>S		No	ClinGen ExAC gnomAD
CA361293181 rs782290463	431	G>V		No	ClinGen ExAC gnomAD
COSM166726 rs781996796 CA3447174	432	S>L	Variant assessed as Somatic; 0.0 impact. liver haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782357684 CA3447176	433	P>R		No	ClinGen ExAC TOPMed gnomAD
rs782078802 CA3447175	433	P>S		No	ClinGen ExAC gnomAD
rs372115820 CA3447177 COSM1433780	434	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs375134546 CA3447181	436	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781860911 CA3447180	436	W>G		No	ClinGen ExAC gnomAD
CA3447182 rs527429618	438	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782440770 CA3447184	441	V>I		No	ClinGen ExAC gnomAD
CA3447186 rs548657178	443	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3447185 rs782586512	443	V>M		No	ClinGen ExAC gnomAD
CA361293437 rs1554124610	445	V>L		No	ClinGen gnomAD
rs1554124614 CA361293456	446	A>T		No	ClinGen gnomAD
rs1554124616 CA361293487	447	D>G		No	ClinGen gnomAD
rs1554124622 CA361293540	450	D>Y		No	ClinGen gnomAD
CA3447189 rs782256529	452	A>T		No	ClinGen ExAC gnomAD
CA3447191 rs782621345	453	P>L		No	ClinGen ExAC TOPMed
rs782172662 CA3447192	454	A>P		No	ClinGen ExAC gnomAD
rs782321736 CA3447193	454	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1379449486 CA361293701	457	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	464	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301708433 CA361293925	466	E>G		No	ClinGen TOPMed gnomAD
rs1445142594 CA361293943	467	N>H		No	ClinGen TOPMed gnomAD
rs1554124643 CA361294008	468	N>K		No	ClinGen gnomAD
CA361293993 rs1581694483	468	N>T		No	ClinGen Ensembl
CA361294017 rs868962455	469	P>S		No	ClinGen Ensembl
rs868962455 CA361294013	469	P>T		No	ClinGen Ensembl
COSM3239877 CA3447197 rs781956119 COSM448776	470	P>L	central_nervous_system breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1554124647 CA361294059	471	G>A		No	ClinGen TOPMed
CA361294056 rs1554124647	471	G>D		No	ClinGen TOPMed
rs782103936 CA3447198	471	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781943764 CA3447201	472	C>Y		No	ClinGen ExAC
CA361294121 rs1554124653	473	H>R		No	ClinGen gnomAD
rs1554124655 CA361294235	476	T>A		No	ClinGen gnomAD
CA361294251 rs1554124656	476	T>I		No	ClinGen gnomAD
CA361294294 rs1165249307	477	V>E		No	ClinGen TOPMed
rs549483688 CA3447203	477	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1554124661 CA361294315	478	S>F		No	ClinGen gnomAD
rs1554124657 CA361294299	478	S>T		No	ClinGen TOPMed
rs1257156985 CA361294328	479	A>S		No	ClinGen TOPMed
CA361294324 rs1257156985	479	A>T		No	ClinGen TOPMed
rs1181544885 CA361294340	479	A>V		No	ClinGen TOPMed
CA361296591 rs1206477664	480	W>*		No	ClinGen TOPMed gnomAD
CA3447207 rs781834509	480	W>*		No	ClinGen ExAC gnomAD
rs115173372 CA3447206	480	W>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115173372 CA361296584	480	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	481	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782443934 CA3447208	481	D>H		No	ClinGen ExAC gnomAD
rs1483022520 CA361296635	483	D>N		No	ClinGen TOPMed
rs144422081 CA3447209	484	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144422081 CA361296669	484	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311531851 CA361296697	486	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554124677 CA361296768	489	L>P		No	ClinGen gnomAD
CA3447214 rs782365511	489	L>V		No	ClinGen ExAC gnomAD
CA3447216 rs782195065	490	V>L		No	ClinGen ExAC gnomAD
CA361296837 rs1554124681	493	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554124680 CA361296824	493	S>P		No	ClinGen gnomAD
rs782417866 CA3447217	494	L>Q		No	ClinGen ExAC
CA3447218 rs782032441	496	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	496	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146494318 CA3447221	497	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3447219 rs369858637 COSM322522	497	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs782098483 CA3447222	498	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3447224 rs781798904	499	V>G		No	ClinGen ExAC gnomAD
CA3447223 rs782685843	499	V>I		No	ClinGen ExAC TOPMed
CA3447226 rs782814995	501	E>G		No	ClinGen ExAC gnomAD
rs140993559 CA3447228	502	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3447227 rs140993559	502	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3447229 rs555898168	502	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554124703 CA361297018	505	S>P		No	ClinGen gnomAD
rs115774628 CA3447230	506	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562218779 CA361297047	506	S>R		No	ClinGen Ensembl
CA361297074 rs1212194365	507	Y>*		No	ClinGen TOPMed gnomAD
CA361297089 rs1265286248	508	V>G		No	ClinGen TOPMed
rs782467255 CA3447231	508	V>I	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs538251882 CA3447232	509	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782371086 CA3447234	510	V>M		No	ClinGen ExAC gnomAD
rs1288388505 CA361297127	511	H>Y		No	ClinGen TOPMed
rs577899528 CA3447236	512	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA361297146 rs1348144933	512	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3447237 rs114390057	513	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361297166 rs114390057	513	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361297199 rs559957887	514	S>I		No	ClinGen 1000Genomes
CA128376502 rs559957887	514	S>N		No	ClinGen 1000Genomes
CA361297212 rs1554124735	515	G>R		No	ClinGen gnomAD
rs1554124735 CA361297210 COSM1061944	515	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554124738 CA361297220	515	G>V		No	ClinGen gnomAD
CA361297244 rs1389730174	516	K>N		No	ClinGen TOPMed
CA361297247 rs1291582762	517	V>M		No	ClinGen TOPMed
rs374265125 CA3447240	518	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782024587 CA3447241	519	A>T		No	ClinGen ExAC gnomAD
TCGA novel	519	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361297322 rs1581696399	520	L>R		No	ClinGen Ensembl
rs1554124750 CA361297330	521	Q>*		No	ClinGen gnomAD
rs1554124761 CA361297353	522	P>L		No	ClinGen gnomAD
CA3447242 rs782107494	522	P>S		No	ClinGen ExAC gnomAD
rs782729225 CA3447243	523	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3447244 rs781847203	524	D>Y		No	ClinGen ExAC gnomAD
CA361297395 rs1554124765	525	H>N		No	ClinGen gnomAD
CA361297409 rs150405058 CA3447245	525	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554124770 CA361297417	526	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs142480630 CA3447248	528	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781867451 CA3447250	531	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	532	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465939551 CA361297616	536	T>S		No	ClinGen TOPMed gnomAD
rs782615790 CA361297618	537	A>P		No	ClinGen ExAC gnomAD
rs782615790 CA3447252	537	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3447253 rs139276513	537	A>V		No	ClinGen ESP ExAC gnomAD
CA361297635 rs1207755540	538	R>G		No	ClinGen TOPMed gnomAD
CA361297632 rs1207755540	538	R>S		No	ClinGen TOPMed gnomAD
CA3447255 rs533708736	539	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1554124813 CA361297680	540	A>G		No	ClinGen gnomAD
TCGA novel	541	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233807402 CA361297688	541	G>S		No	ClinGen TOPMed
TCGA novel	542	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782363831 CA3447257	543	P>L		No	ClinGen ExAC gnomAD
rs782363831 CA361297736	543	P>Q		No	ClinGen ExAC gnomAD
rs1554124825 CA361297781	544	P>L		No	ClinGen gnomAD
rs142005186 CA3447260	546	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142005186 CA3447259	546	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361297817 rs1437037170	546	G>S		No	ClinGen TOPMed
rs142005186 CA361297851	546	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361297868 rs1456969374	547	S>G		No	ClinGen TOPMed
CA361297878 rs1382810188	548	N>H		No	ClinGen TOPMed gnomAD
rs1382810188 CA361297881	548	N>Y		No	ClinGen TOPMed gnomAD
rs782815654 CA3447263	549	V>M		No	ClinGen ExAC gnomAD
CA361297938 rs1554124834	550	T>A		No	ClinGen gnomAD
rs782131323 CA3447265	550	T>M		No	ClinGen ExAC gnomAD
rs782131323 CA361297948	550	T>R		No	ClinGen ExAC gnomAD
rs1554124838 CA361297980	552	Q>K		No	ClinGen gnomAD
rs542272513 CA128376525	553	V>M		No	ClinGen gnomAD
CA361298047 TCGA novel rs1466970963	554	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
CA3447268 rs781838352	555	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1377582762 CA361298061	555	V>L		No	ClinGen TOPMed gnomAD
COSM163310 rs1377582762 CA361298054	555	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361298116 rs1451689285	557	D>E		No	ClinGen TOPMed gnomAD
CA361298139 rs782428956	558	E>D		No	ClinGen ExAC gnomAD
COSM1433788 rs267600385 CA128376528	558	E>K	lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs567779090 CA3447271	560	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3447270 rs567779090	560	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361298254 rs782630901	562	A>E		No	ClinGen ExAC gnomAD
rs782630901 CA3447273	562	A>G		No	ClinGen ExAC gnomAD
CA3447276 rs146197308	564	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361298336 rs1344157467	565	L>P		No	ClinGen TOPMed gnomAD
rs1344157467 CA361298338	565	L>R		No	ClinGen TOPMed gnomAD
CA3447278 rs782412304	565	L>V		No	ClinGen ExAC gnomAD
CA3447280 rs782248203	567	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3447281 rs782248203	567	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1554124867 CA361298361	567	A>T		No	ClinGen gnomAD
CA361298369 rs782248203	567	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3447284 COSM1619592 rs782706780	568	P>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361298387 rs1296615329	568	P>S		No	ClinGen TOPMed
rs782804250 CA3447287 COSM1061948	569	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3447286 rs13189658	569	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA3447288 rs781855860	570	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1554124875 CA361298456	570	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361298534 rs1554124877	573	T>I		No	ClinGen gnomAD
rs1554124881 CA361298576	575	G>D		No	ClinGen gnomAD
rs782513861 CA3447289	575	G>S		No	ClinGen ExAC TOPMed gnomAD
CA361298588 rs1396651990	576	A>S		No	ClinGen TOPMed gnomAD
CA3447291 rs781794115	577	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1562220905 CA361298637	578	S>N		No	ClinGen Ensembl
CA3447292 rs782455168	579	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782292532 CA3447294	581	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361298704 rs1581698199	582	P>S		No	ClinGen Ensembl
rs553655178 CA3447295	583	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554124895 CA361298719	583	W>G		No	ClinGen gnomAD
rs1554124895 CA361298721	583	W>R		No	ClinGen gnomAD
rs782653809 CA3447296	584	S>*		No	ClinGen ExAC gnomAD
rs782653809 CA361298789	584	S>L		No	ClinGen ExAC gnomAD
rs1554124905 CA361298808	585	V>G		No	ClinGen gnomAD
CA3447297 rs782219196	585	V>M		No	ClinGen ExAC gnomAD
CA3447298 rs782358037	586	G>D		No	ClinGen ExAC gnomAD
CA361298812 rs1554124908	586	G>S		No	ClinGen gnomAD
CA361298872 rs1554124909	587	V>A		No	ClinGen gnomAD
CA361298945 rs1554124911	589	H>Q		No	ClinGen gnomAD
CA3447300 rs781916233	590	V>A		No	ClinGen ExAC gnomAD
rs1369862214 COSM3393188 CA361298950	590	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA361298992 rs1554124915	591	V>G		No	ClinGen gnomAD
rs142493803 CA3447301	592	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554124924 CA361299031	593	K>T		No	ClinGen gnomAD
CA361299048 rs1554124926	594	V>M		No	ClinGen gnomAD
CA361299076 rs1441304336	595	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1441304336 CA361299081	595	R>L		No	ClinGen TOPMed
rs879959461 CA361299069	595	R>S		No	ClinGen gnomAD
CA3447302 rs782400718	596	A>P		No	ClinGen ExAC
CA3447303 rs781991192	596	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361299114 rs1554124934	597	V>A		No	ClinGen gnomAD
CA361299104 rs1554124931	597	V>M		No	ClinGen gnomAD
CA361299233 rs1554124940	601	S>*		No	ClinGen gnomAD
rs782057126 CA3447309	602	G>A		No	ClinGen ExAC gnomAD
rs17844283 CA3447311 CA361299343	604	N>K		No	ClinGen ExAC gnomAD
TCGA novel	605	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	606	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267600386 CA128376572	608	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361299477 rs1562221741	609	Y>*		No	ClinGen Ensembl
CA361299451 rs1225926404	609	Y>N		No	ClinGen TOPMed
CA3447313 rs782755918	613	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782569898 CA3447312	613	P>S		No	ClinGen ExAC gnomAD
rs139851359 CA3447315	614	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361299627 rs1554124952	615	T>N		No	ClinGen gnomAD
rs1554124952 CA361299641	615	T>S		No	ClinGen gnomAD
rs782614839 CA3447316	617	G>S		No	ClinGen ExAC gnomAD
CA3447318 rs782455641 COSM205055	618	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3447320 rs782283778	619	R>C		No	ClinGen ExAC
TCGA novel	619	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1061954 CA361299724 rs1311161177	619	R>H	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1311161177 CA361299730	619	R>L		No	ClinGen TOPMed gnomAD
rs782636095 CA3447322	620	I>M		No	ClinGen ExAC gnomAD
CA3447323 rs782208317 COSM736296	621	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1307759029 CA361299798	622	F>L		No	ClinGen TOPMed gnomAD
rs1554124966 CA361299812	623	R>C	Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs576133564 CA3447325	623	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs576133564 CA361299823	623	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554124969 CA361299849	624	V>A		No	ClinGen gnomAD
rs1554124972 CA361299860	625	G>E		No	ClinGen gnomAD
rs782422711 CA3447327	625	G>R		No	ClinGen ExAC gnomAD
CA361299866 rs1554124972	625	G>V		No	ClinGen gnomAD
rs543142225 CA3447329	626	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA128376600 rs149719719	627	Y>C		No	ClinGen ESP
CA361299921 rs1554124981	628	T>A		No	ClinGen gnomAD
CA361299996 rs1554124986	630	E>D		No	ClinGen gnomAD
rs1183753194 CA361300011	631	I>T		No	ClinGen TOPMed
TCGA novel	632	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250955428 CA361300071	633	T>A		No	ClinGen TOPMed gnomAD
CA361300092 rs1554124989	633	T>R		No	ClinGen gnomAD
CA361300120 COSM330475 rs1202399974	634	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3447333 rs746844684	635	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128376605 COSM736294 rs746844684	635	R>G	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs376395074 CA3447334 COSM1433792	635	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3447335 rs782551783	636	A>D		No	ClinGen ExAC TOPMed gnomAD
CA361300164 rs782551783	636	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361300210 CA361300203 rs781864694	638	D>E		No	ClinGen ExAC TOPMed gnomAD
rs782619886 CA3447336	638	D>N		No	ClinGen ExAC TOPMed gnomAD
rs532147064 CA3447338	639	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128376619 rs532147064	639	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs540996422 CA361300248	640	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3447339 rs540996422 COSM163308	640	T>M	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3447340 rs782204017	642	A>V		No	ClinGen ExAC gnomAD
rs17844284 COSM3239932 CA3447342	643	P>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs782409819 CA3447341	643	P>S		No	ClinGen ExAC TOPMed gnomAD
rs142688560 CA3447343	644	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142688560 CA3447344	644	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554125014 CA361300396	646	R>C		No	ClinGen gnomAD
COSM1433796 rs147674000 CA3447346	646	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs147674000 CA3447345	646	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3447348 rs781933598	647	L>P		No	ClinGen ExAC TOPMed gnomAD
CA361300448 rs1562222868	648	L>P		No	ClinGen Ensembl
rs1554125021 CA361300527	651	V>A		No	ClinGen gnomAD
rs1581700225 CA361300511	651	V>L		No	ClinGen Ensembl
CA361300590 rs1554125024	653	D>E		No	ClinGen gnomAD
CA3447350 rs782812274	654	H>Q		No	ClinGen ExAC gnomAD
CA361300609 rs1554125027	654	H>Y		No	ClinGen gnomAD
rs370475370 CA128376648	655	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA361300642 rs1554125029	655	G>S		No	ClinGen gnomAD
CA3447352 rs558715293	656	E>*		No	ClinGen ExAC TOPMed gnomAD
CA3447353 rs567757480	656	E>D		No	ClinGen 1000Genomes ExAC
rs558715293 COSM1739092 CA361300663	656	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs558715293 CA3447351	656	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs142332964 CA3447355	657	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142332964 CA3447354	657	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3447357 rs146303235	658	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146303235 COSM313954 CA3447358	658	A>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs147908793 CA3447359	658	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3447361 rs782482719	659	L>V	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1275758806 CA361300777	660	T>M		No	ClinGen TOPMed
CA361300820 rs1554125055	662	T>A		No	ClinGen gnomAD
rs782188990 CA3447364	662	T>K		No	ClinGen ExAC gnomAD
rs1554125067 CA361300939	665	V>G		No	ClinGen gnomAD
rs782248044 CA3447367	665	V>M		No	ClinGen ExAC gnomAD
CA3447370 rs782091901	668	S>P		No	ClinGen ExAC gnomAD
rs1435429734 CA361301038	670	V>L		No	ClinGen TOPMed
rs1387208859 CA361301103	672	S>R		No	ClinGen TOPMed
CA3447372 rs782023023	673	G>A		No	ClinGen ExAC gnomAD
rs782769972 CA3447374	674	Q>K		No	ClinGen ExAC gnomAD
rs1554125084 CA361301195	675	A>E		No	ClinGen gnomAD
CA361301212 COSM1433798 rs1554125084	675	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1425817282 CA361301346	680	S>L		No	ClinGen TOPMed
CA361301365 rs1452307952	681	R>L		No	ClinGen TOPMed gnomAD
rs1452307952 CA361301362	681	R>P		No	ClinGen TOPMed gnomAD
CA128376686 rs538670718	682	A>T		No	ClinGen 1000Genomes
CA361301389 rs1190740414	682	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361301430 rs1465518164	684	V>M		No	ClinGen TOPMed
CA361301469 rs1241553010	685	G>D		No	ClinGen TOPMed gnomAD
rs1554125099 CA361301456	685	G>R		No	ClinGen gnomAD
CA361301464 rs1241553010	685	G>V		No	ClinGen TOPMed gnomAD
CA3447383 rs553716577	686	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361301483 rs1554125101	686	A>V		No	ClinGen gnomAD
CA361301525 rs782209352	688	G>D	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3447384 rs782209352	688	G>V		No	ClinGen ExAC gnomAD
rs1314068849 CA361301530	689	P>T		No	ClinGen TOPMed gnomAD
rs150467607 COSM205059 CA128376699	690	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
CA3447386 rs565672389	691	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554125107 CA361301614	692	A>S		No	ClinGen gnomAD
CA361301663 rs1554125113	694	V>G		No	ClinGen gnomAD
CA3447388 rs782439695	695	D>E		No	ClinGen ExAC gnomAD
CA3447389 rs781990926	697	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	699	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3447390 rs782137059	699	Y>H		No	ClinGen ExAC gnomAD
CA3447391 rs782732716	700	L>Q		No	ClinGen ExAC gnomAD
rs781967550 CA3447392	701	I>V		No	ClinGen ExAC gnomAD
rs782054971 CA3447393	702	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	703	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554125121 CA361301891	703	A>V		No	ClinGen gnomAD
CA361301945 rs1449558535	705	C>*		No	ClinGen TOPMed gnomAD
CA361301967 rs1554125129	706	A>E		No	ClinGen gnomAD
rs1554125126 CA361301952	706	A>P		No	ClinGen Ensembl
CA361301972 COSM213554 rs1554125129	706	A>V	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3447395 rs17844285	707	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361301996 rs1554125135	708	S>F		No	ClinGen gnomAD
rs1333425784 CA361302012	709	S>R		No	ClinGen TOPMed
CA3447396 rs782158465	711	L>*		No	ClinGen ExAC
CA361302029 rs782158465	711	L>W		No	ClinGen ExAC
CA361302042 rs1169021514	712	V>L		No	ClinGen TOPMed
rs1554125144 CA361302053	713	L>F		No	ClinGen gnomAD
rs1419045044 CA361302069	714	T>R		No	ClinGen TOPMed
CA361302082 rs1185037292	715	L>R		No	ClinGen TOPMed gnomAD
CA128376716 rs782036778	716	L>P		No	ClinGen TOPMed gnomAD
rs782036778 CA361302091	716	L>R		No	ClinGen TOPMed gnomAD
rs576165362 CA128376718	717	L>P		No	ClinGen 1000Genomes
rs1554125155 CA361302116	718	Y>*		No	ClinGen gnomAD
rs782466044 CA3447399	718	Y>H		No	ClinGen ExAC
CA3447401 rs138998178	720	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	724	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	724	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782686583 COSM589666 CA3447403	725	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3447408 rs543555386	727	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3447409 rs543555386	727	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3447407 rs782392679	727	P>S		No	ClinGen ExAC gnomAD
CA3447406 rs782392679	727	P>T		No	ClinGen ExAC gnomAD
rs782154101 CA3447411	729	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA361302274 rs1554125172 COSM1061962	730	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs77547730 CA128376742	731	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs558389511 CA3447413	732	C>*		No	ClinGen 1000Genomes ExAC gnomAD
rs558389511 CA361302308	732	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1554125176 CA361302302	732	C>Y		No	ClinGen gnomAD
rs1379248044 CA361302315	733	A>S		No	ClinGen TOPMed gnomAD
CA361302312 COSM1061966 rs1379248044	733	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782714901 CA3447415	734	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	735	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554125184 CA361302364	736	K>N		No	ClinGen gnomAD
TCGA novel	737	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781909645 CA3447419	738	T>K		No	ClinGen ExAC gnomAD
CA3447423 rs782496896	740	V>G		No	ClinGen ExAC gnomAD
CA3447422 rs781828358	740	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3447425 rs782200079	741	C>*		No	ClinGen ExAC gnomAD
CA361302433 rs782561720	741	C>F		No	ClinGen ExAC gnomAD
CA3447424 rs782561720	741	C>S		No	ClinGen ExAC gnomAD
rs1428831386 CA361302438	742	S>Y		No	ClinGen TOPMed gnomAD
CA3447426 rs541059549	743	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145922941 CA3447427	743	S>I		No	ClinGen ESP ExAC gnomAD
rs145922941 CA361302443	743	S>N		No	ClinGen ESP ExAC gnomAD
CA361302448 rs1168580497	744	A>P		No	ClinGen TOPMed
COSM1261273 CA361302452 rs1554125201	744	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361302460 rs1562225455	745	V>A		No	ClinGen Ensembl
rs1554125205 CA361302455	745	V>L		No	ClinGen Ensembl
CA3447428 rs782243123	748	W>*		No	ClinGen ExAC gnomAD
CA361302498 rs1554125207	748	W>*		No	ClinGen gnomAD
rs760109122 CA128376763	749	S>L		No	ClinGen Ensembl
rs1187355294 CA361302549	751	S>*		No	ClinGen TOPMed gnomAD
rs1187355294 CA361302551	751	S>L		No	ClinGen TOPMed gnomAD
CA3447429 rs148640226	751	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1187355294 CA361302550	751	S>W		No	ClinGen TOPMed gnomAD
CA361302558 rs1554125216	752	Q>*		No	ClinGen gnomAD
rs782301046 CA3447432	753	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs782301046 CA3447433	753	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	755	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361302658 rs1554125221	758	V>G		No	ClinGen gnomAD
CA3447436 rs782009545	759	C>S		No	ClinGen ExAC gnomAD
COSM589662 rs1223238346 CA361302716	762	E>D	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1250038191 CA361302702 COSM1294164	762	E>K	cervix [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA361302730 rs782745865	763	G>A		No	ClinGen ExAC TOPMed
rs782745865 CA3447439	763	G>D		No	ClinGen ExAC TOPMed
rs150783892 CA3447437	763	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554125241 CA361302749	764	P>L		No	ClinGen gnomAD
rs782448560 CA3447441	764	P>S		No	ClinGen ExAC gnomAD
rs1554125246 CA361302759	765	P>R		No	ClinGen gnomAD
rs1554125244 CA361302751	765	P>S		No	ClinGen gnomAD
rs782810628 CA361302804	768	D>E		No	ClinGen ExAC gnomAD
COSM1719890 CA361302793 rs1554125251	768	D>N	Variant assessed as Somatic; 0.0 impact. NS liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782500159 CA3447444	770	M>V		No	ClinGen ExAC gnomAD
rs782212508 CA3447446	773	S>I		No	ClinGen ExAC gnomAD
rs782212508 CA3447447	773	S>N		No	ClinGen ExAC gnomAD
rs782554104 CA3447449	774	P>L		No	ClinGen ExAC gnomAD
rs782554104 CA3447448	774	P>R		No	ClinGen ExAC gnomAD
rs1288901774 CA361302887	774	P>S		No	ClinGen TOPMed
CA361302896 rs1390804817	775	S>G		No	ClinGen TOPMed
CA3447450 rs374214403	775	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361302903 rs868909071	775	S>R		No	ClinGen Ensembl
CA361302899 rs374214403	775	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554125265 CA361302913	776	L>S		No	ClinGen gnomAD
CA3447453 rs782270940	781	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781993408 CA3447452	781	D>H		No	ClinGen ExAC gnomAD
rs782351603 CA3447454	782	R>K		No	ClinGen ExAC gnomAD
rs138003823 CA3447455	783	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs782730163 CA3447457	784	D>E		No	ClinGen ExAC gnomAD
rs782016802 CA3447458	787	Q>H		No	ClinGen ExAC gnomAD
rs782750036 CA3447460	789	T>A		No	ClinGen ExAC gnomAD
rs782462557 CA3447462	790	E>G		No	ClinGen ExAC gnomAD
CA3447461 rs781870287	790	E>Q		No	ClinGen ExAC gnomAD
CA3447463 rs782739291	791	E>D		No	ClinGen ExAC gnomAD
rs781790264 CA3447464	792	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781790264 CA3447465	792	S>Y		No	ClinGen ExAC gnomAD
rs1554125289 CA361303184	795	K>E		No	ClinGen gnomAD
rs782672479 CA3447466	795	K>N		No	ClinGen ExAC
rs782073950 CA3454452	796	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	796	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	797	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	797	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	797	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	802	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	803	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	803	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	804	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	807	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	808	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	809	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	810	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	811	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	812	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	813	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	814	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	815	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	816	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	816	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	816	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	817	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	818	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	818	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	820	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	820	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	821	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	822	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	823	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	824	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	826	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	826	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	828	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	829	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	831	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	833	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	833	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	835	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	836	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	837	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	837	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	838	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	839	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	841	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	841	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	841	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	841	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	843	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	844	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	844	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	844	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	844	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	845	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	848	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	850	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	856	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274	857	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	859	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	859	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	863	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	869	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	869	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	871	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	873	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	874	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	876	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	877	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	877	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	878	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	879	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	883	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	883	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	884	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	887	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	888	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	889	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	893	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	893	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	893	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	894	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	896	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	897	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	897	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	898	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	900	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	900	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	901	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	902	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	903	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	905	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	905	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	906	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	906	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	906	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	907	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	910	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	912	T>I		No	ClinGen ExAC
rs782274123 CA3454571	913	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	914	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	916	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	916	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	917	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	918	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	919	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	920	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	920	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	925	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	926	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	927	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	927	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	930	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	930	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	933	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	935	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	938	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	939	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	939	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	939	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	940	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	940	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	941	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	942	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	943	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	944	N>Y		No	ClinGen TOPMed

No associated diseases with Q9UN74

12 regional properties for Q9UN74

Type	Name	Position	InterPro Accession
domain	Cadherin-like	34 - 122	IPR002126-1
domain	Cadherin-like	123 - 250	IPR002126-2
domain	Cadherin-like	250 - 358	IPR002126-3
domain	Cadherin-like	359 - 474	IPR002126-4
domain	Cadherin-like	464 - 574	IPR002126-5
domain	Cadherin-like	590 - 686	IPR002126-6
domain	Cadherin, N-terminal	19 - 101	IPR013164
conserved_site	Cadherin conserved site	110 - 120	IPR020894-1
conserved_site	Cadherin conserved site	238 - 248	IPR020894-2
conserved_site	Cadherin conserved site	451 - 461	IPR020894-3
conserved_site	Cadherin conserved site	562 - 572	IPR020894-4
domain	Cadherin, cytoplasmic C-terminal domain	713 - 838	IPR032455

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Detected in dendrites and synapses
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

2 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
identical protein binding	Binding to an identical protein or proteins.

3 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

46 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SWX5	CDH6	Cadherin-6	Bos taurus (Bovine)	PR
P79995	CDH10	Cadherin-10	Gallus gallus (Chicken)	PR
Q8UVJ7	CDHR1	Cadherin-related family member 1	Gallus gallus (Chicken)	PR
Q5DRC8	PCDHB6	Protocadherin beta-6	Pan troglodytes (Chimpanzee)	PR
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q9VJB6	CadN2	Putative neural-cadherin 2	Drosophila melanogaster (Fruit fly)	PR
Q9ULB4	CDH9	Cadherin-9	Homo sapiens (Human)	PR
P12830	CDH1	Cadherin-1	Homo sapiens (Human)	PR
Q9H159	CDH19	Cadherin-19	Homo sapiens (Human)	PR
Q9Y6N8	CDH10	Cadherin-10	Homo sapiens (Human)	PR
P55285	CDH6	Cadherin-6	Homo sapiens (Human)	PR
P19022	CDH2	Cadherin-2	Homo sapiens (Human)	PR
Q6ZTQ4	CDHR3	Cadherin-related family member 3	Homo sapiens (Human)	PR
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q08174	PCDH1	Protocadherin-1	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9UN75	PCDHA12	Protocadherin alpha-12	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5H6	PCDHA8	Protocadherin alpha-8	Homo sapiens (Human)	PR
Q9Y5I3	PCDHA1	Protocadherin alpha-1	Homo sapiens (Human)	PR
Q9Y5H9	PCDHA2	Protocadherin alpha-2	Homo sapiens (Human)	PR
Q9Y5H3	PCDHGA10	Protocadherin gamma-A10	Homo sapiens (Human)	PR
O60330	PCDHGA12	Protocadherin gamma-A12	Homo sapiens (Human)	PR
Q9Y5G4	PCDHGA9	Protocadherin gamma-A9	Homo sapiens (Human)	PR
Q9Y5G0	PCDHGB5	Protocadherin gamma-B5	Homo sapiens (Human)	PR
Q9Y5E3	PCDHB6	Protocadherin beta-6	Homo sapiens (Human)	PR
Q9Y5F1	PCDHB12	Protocadherin beta-12	Homo sapiens (Human)	PR
P09803	Cdh1	Cadherin-1	Mus musculus (Mouse)	PR
P15116	Cdh2	Cadherin-2	Mus musculus (Mouse)	PR
P70407	Cdh9	Cadherin-9	Mus musculus (Mouse)	PR
P97326	Cdh6	Cadherin-6	Mus musculus (Mouse)	PR
P70408	Cdh10	Cadherin-10	Mus musculus (Mouse)	PR
Q8VHF2	Cdhr5	Cadherin-related family member 5	Mus musculus (Mouse)	PR
O88689	Pcdha4	Protocadherin alpha-4	Mus musculus (Mouse)	PR
P55280	Cdh6	Cadherin-6	Rattus norvegicus (Rat)	PR
Q9Z1Y3	Cdh2	Cadherin-2	Rattus norvegicus (Rat)	PR
Q767I8	Pcdha4	Protocadherin alpha-4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEFSWGSGQE	SRRLLLLLLL	LAAWEAGNGQ	LHYSVSEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRVASKG	RGGLLEVNLQ	NGILFVNSRI	DREELCRRSA	ECSIHLEVIV	DRPLQVFHVD
130	140	150	160	170	180
VEVRDINDNP	PVFPATQKNL	SIAESRPLDS	RFPLEGASDA	DIGENALLTY	RLSPNEYFSL
190	200	210	220	230	240
EKPPDDELVK	GLGLILRKSL	DREEAPEIFL	VLTATDGGKP	ELTGTVQLLI	TVLDANDNAP
250	260	270	280	290	300
AFDRTIYKVR	LLENVPNGTL	VIKLNASDLD	EGLNGDIVYS	FSNDISPNVK	SKFHIDPITG
310	320	330	340	350	360
QIIVKGYIDF	EESKSYEIIV	EGIDKGQLPL	SGHCRVIVEV	EDNNDNVPDL	EFKSLSLPIR
370	380	390	400	410	420
EDAPLGTVIA	LISVSDKDMG	VNGLVTCSLT	SHVPFKLVST	FKNYYSLVLD	SALDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAS	VSVEVADVND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAW
490	500	510	520	530	540
DADAQENALV	SYSLVERRVG	ERALSSYVSV	HAESGKVYAL	QPLDHEELEL	LQFQVTARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLAPRA	GGTGGAVSEL	VPWSVGVGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPGTGGARI	PFRVGLYTGE	ISTTRALDET	DAPRHRLLVL	VKDHGEPALT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	RALVGAVGPD	AALVDVNVYL	IIAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSALPTEG	ACAPGKPTLV	CSSAVGSWSY	SQQRRPRVCS	GEGPPKTDLM	AFSPSLPDSR
790	800	810	820	830	840
DREDQLQTTE	ESFAKPRQPN	PDWRYSASLR	AGMHSSVHLE	EAGILRAGPG	GPDQQWPTVS
850	860	870	880	890	900
SATPEPEAGE	VSPPVGAGVN	SNSWTFKYGP	GNPKQSGPGE	LPDKFIIPGS	PAIISIRQEP
910	920	930	940
TNSQIDKSDF	ITFGKKEETK	KKKKKKKGNK	TQEKKEKGNS	TTDNSDQ