AiPD: Autoinhibited Protein Database

Q9UL16

Gene name	CFAP45
Protein name	Cilia- and flagella-associated protein 45
Names	Coiled-coil domain-containing protein 19, Nasopharyngeal epithelium-specific protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25790
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

7-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

7-77 (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

3 structures for Q9UL16

Entry ID	Method	Resolution	Chain	Position	Source
7UNG	EM	360 A	a/b/c/d	1-551	PDB
8J07	EM	410 A	1D/1E/1F/1G/1H/1I/1J	1-551	PDB
AF-Q9UL16-F1	Predicted				AlphaFoldDB

516 variants for Q9UL16

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_085330	241	Q>del	HTX11; loss of panaxonemal expression in respiratory cilia and in sperm flagella [UniProt]	Yes	UniProt
COSM1247489 VAR_085331 CA1190991 rs201144590	303	R>missing	oesophagus HTX11; loss of panaxonemal expression in respiratory cilia and in sperm flagella [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
VAR_085331 rs201144590	303	R>del	HTX11; loss of panaxonemal expression in respiratory cilia and in sperm flagella [UniProt]	Yes	UniProt dbSNP
rs1390821097 CA343226056	2	P>L		No	ClinGen gnomAD
CA31391511 rs760993149	2	P>S		No	ClinGen TOPMed
TCGA novel	3	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1191297 rs775416924	6	A>S		No	ClinGen ExAC TOPMed gnomAD
CA343225930 rs1372767263	10	S>G		No	ClinGen gnomAD
COSM898090 CA1191294 rs774749136	11	S>P	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1253627249 CA343225895	12	S>F		No	ClinGen gnomAD
rs868231888 CA31391506	13	S>F		No	ClinGen Ensembl
CA343225861 rs1178346591	14	A>T		No	ClinGen TOPMed
rs544005243 CA1191291	15	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1191292 rs544005243	15	A>T		No	ClinGen ExAC TOPMed gnomAD
rs144965039 CA1191289	17	N>S		No	ClinGen ESP ExAC
CA343225768 rs1196797096	18	R>G		No	ClinGen gnomAD
rs781655391 CA343225759	18	R>K		No	ClinGen ExAC gnomAD
rs781655391 CA1191288	18	R>M		No	ClinGen ExAC gnomAD
CA1191287 rs151098186	18	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs188930388 CA1191286	19	S>*		No	ClinGen 1000Genomes ExAC gnomAD
CA1191285 COSM386155 rs778554723	20	R>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1191284 rs756840313	21	N>K		No	ClinGen ExAC TOPMed gnomAD
rs763586832 CA1191282	23	A>T		No	ClinGen ExAC
rs756128446 CA1191281	24	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1191279 rs41264831	24	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1191280 rs41264831	24	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1409213130 CA343225622	25	Y>C		No	ClinGen gnomAD
rs368850939 CA31391481	26	R>Q		No	ClinGen ESP TOPMed gnomAD
rs774231764 CA1191277	26	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1350356083 CA343225586	27	T>I		No	ClinGen TOPMed gnomAD
CA343225549 rs1557916345	29	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1191273 rs143593292	30	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1191272 rs748727893	31	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	34	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs117846150 CA1191271	35	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1240638213 CA343225412	35	D>N		No	ClinGen gnomAD
rs1437616382 CA343225308	36	E>D		No	ClinGen gnomAD
rs774925941 CA31391475	36	E>G		No	ClinGen Ensembl
CA343225282 rs1271252715	37	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343225218 rs1571189409	39	F>L		No	ClinGen Ensembl
rs747383126 CA1191269	39	F>L		No	ClinGen ExAC gnomAD
rs769153821 CA1191270	39	F>S		No	ClinGen ExAC TOPMed gnomAD
CA31391471 rs374757532	40	G>R		No	ClinGen ESP
CA1191268 rs780327689	41	D>V		No	ClinGen ExAC gnomAD
CA1191266 rs372198026	42	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756966978 CA1191267	42	I>V		No	ClinGen ExAC gnomAD
rs1441301343 CA343225081	43	K>R		No	ClinGen TOPMed gnomAD
rs1417500652 CA343223770	49	Q>H		No	ClinGen gnomAD
rs769433727 CA1191246	49	Q>K		No	ClinGen ExAC gnomAD
rs747617122 CA1191245	49	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1185360193 CA343223747	50	S>N		No	ClinGen gnomAD
COSM1470182 rs1235504887 CA343223713	51	D>N	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA343223655 rs755026400	53	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1191243 rs755026400	53	P>T		No	ClinGen ExAC TOPMed gnomAD
CA343223644 rs1557915524	54	I>T		No	ClinGen Ensembl
rs1232382107 CA343223597	56	L>P		No	ClinGen TOPMed
CA1191241 rs780033471	57	L>F		No	ClinGen ExAC gnomAD
CA343223572 rs1292028316	57	L>R		No	ClinGen TOPMed gnomAD
rs566120812 CA1191240	58	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139950385 CA1191239	58	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs113760904 CA1191238	60	K>M		No	ClinGen ExAC TOPMed gnomAD
CA343223503 rs762023819	60	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1191236 rs764217890	61	H>N		No	ClinGen ExAC gnomAD
CA1191235 rs764217890	61	H>Y		No	ClinGen ExAC gnomAD
rs761213725 CA1191234	62	T>A		No	ClinGen ExAC TOPMed
CA343223425 rs761213725	62	T>S		No	ClinGen ExAC TOPMed
CA1191233 rs137867949	63	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs772523183 CA1191232	64	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1191231 rs759911549	66	T>A		No	ClinGen ExAC gnomAD
CA1191230 rs774711373	66	T>N		No	ClinGen ExAC gnomAD
CA1191229 rs769399551	67	L>F		No	ClinGen ExAC gnomAD
rs747825858 CA1191228	68	T>I		No	ClinGen ExAC gnomAD
rs780617094 CA1191227	69	A>V	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1191225 rs746475149	71	G>C		No	ClinGen ExAC gnomAD
rs780162632 CA1191224	73	D>G		No	ClinGen ExAC gnomAD
rs62640918 CA1191223	74	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1191222 rs750185938	74	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778761812 CA1191221	75	K>N		No	ClinGen ExAC gnomAD
CA343222926 rs1385184134	79	I>T		No	ClinGen gnomAD
CA1191219 rs754066001	79	I>V		No	ClinGen ExAC gnomAD
CA1191216 rs142731231	84	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142731231 CA1191215	84	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760769998 CA1191217	84	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1324458767 CA343222752	85	D>Y		No	ClinGen gnomAD
rs972327530 CA31390857	86	M>I		No	ClinGen TOPMed
rs1463915447 CA343222713	86	M>V		No	ClinGen gnomAD
rs760032311 CA1191214	88	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1191213 rs774638004	88	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1191212 rs771306769	89	E>Q		No	ClinGen ExAC gnomAD
rs561714774 CA31390855	91	I>T		No	ClinGen TOPMed gnomAD
CA343221686 rs1318093580	93	P>L		No	ClinGen gnomAD
CA31390484 rs944479761	93	P>S		No	ClinGen TOPMed
CA343221684 rs1306889489	94	T>A		No	ClinGen TOPMed gnomAD
rs145722573 CA1191187	94	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1191188 rs145722573	94	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	95	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1191185 rs745830947	96	D>E		No	ClinGen ExAC gnomAD
CA1191184 rs369574256	98	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs553535025 CA1191182	99	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1191181 rs777543850	100	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs756386691 CA1191180	103	I>M		No	ClinGen ExAC gnomAD
rs748348361 CA1191179	104	I>V		No	ClinGen ExAC gnomAD
rs199660398 CA1191177	105	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs751542206 CA1191176 COSM70041	105	S>R	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1191175 rs374733790	109	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA343221383 rs758764436	110	E>K		No	ClinGen ExAC gnomAD
rs758764436 CA1191174	110	E>Q		No	ClinGen ExAC gnomAD
rs750884056 CA1191173	111	R>*		No	ClinGen ExAC gnomAD
rs201664440 CA1191172	111	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201664440 CA31390448	111	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1260720084 CA343221334	112	I>S		No	ClinGen gnomAD
CA1191171 rs760450248	113	K>R		No	ClinGen ExAC gnomAD
CA1191170 rs775249902	114	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1286221616 CA343221294	115	A>S		No	ClinGen TOPMed
CA1191169 rs767031751	116	S>F		No	ClinGen ExAC gnomAD
CA343221284 rs767031751	116	S>Y		No	ClinGen ExAC gnomAD
rs372597365 CA1191168	117	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1191167 rs147350515	122	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1191166 rs770971917	124	L>F		No	ClinGen ExAC gnomAD
rs149228386 CA1191165	124	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462908667 CA343221108	127	R>K		No	ClinGen gnomAD
rs769547313 CA343221077	129	Q>*		No	ClinGen ExAC gnomAD
rs769547313 CA1191163	129	Q>K		No	ClinGen ExAC gnomAD
CA1191161 rs145313899	130	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1191162 rs145313899	130	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	132	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA31390425 rs990944379	133	K>N		No	ClinGen TOPMed gnomAD
rs768700634 CA1191160	134	E>*		No	ClinGen ExAC TOPMed gnomAD
rs768700634 CA343220994	134	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747115757 CA1191159	136	E>D		No	ClinGen ExAC TOPMed gnomAD
rs960809910 CA31390420 COSM1335406	137	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs768988314 CA1191141	140	D>E		No	ClinGen ExAC gnomAD
CA343220800 rs1557914702	141	A>S		No	ClinGen Ensembl
CA31390294 rs966876018	142	V>L		No	ClinGen gnomAD
CA1191139 rs200733249	145	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557914690 CA526677646	145	R>*		No	ClinGen Ensembl
CA343220736 rs140567807	145	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140567807 COSM1688921 CA1191138	145	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1191137 rs745899805	146	K>T		No	ClinGen ExAC gnomAD
rs1347970158 CA343220689	148	I>V		No	ClinGen gnomAD
CA343220663 rs1266476730	149	M>R		No	ClinGen Ensembl
CA343220665 rs1266476730	149	M>T		No	ClinGen Ensembl
CA343220672 rs1275862041	149	M>V		No	ClinGen TOPMed
CA343220645 rs1302588408	150	K>T		No	ClinGen TOPMed gnomAD
CA343220631 rs1438549717	151	Q>*		No	ClinGen gnomAD
rs779579032 CA1191136	151	Q>P		No	ClinGen ExAC TOPMed
rs757774771 CA1191135	152	K>E		No	ClinGen ExAC TOPMed gnomAD
rs754324447 CA1191134	152	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	153	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777990509 CA1191133	155	V>A		No	ClinGen ExAC gnomAD
rs1367245870 CA343220573	155	V>L		No	ClinGen TOPMed gnomAD
rs1396100680 CA343220541	157	N>K		No	ClinGen TOPMed gnomAD
rs1166930807 CA343220539	158	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs891101540 CA31390272	158	N>S		No	ClinGen TOPMed
CA1191132 rs754709147	159	N>D		No	ClinGen ExAC TOPMed gnomAD
CA1191131 rs751141465	160	K>R		No	ClinGen ExAC gnomAD
CA1191129 rs766016903	162	L>F		No	ClinGen ExAC gnomAD
CA343220452 rs1389293192	163	S>R		No	ClinGen TOPMed
rs1235075660 CA343220436	165	L>V		No	ClinGen gnomAD
CA1191128 rs762475175	167	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1183047386 CA343220418 COSM675931	167	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1290734731 CA343220403	168	V>A		No	ClinGen TOPMed
rs749875277 CA1191127	169	A>S		No	ClinGen ExAC gnomAD
rs866603642 CA31390252	169	A>V		No	ClinGen TOPMed
CA1191124 rs776543202	172	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761733171 CA1191125	172	R>W		No	ClinGen ExAC gnomAD
rs1347849184 CA343220359	173	A>V		No	ClinGen TOPMed
CA31390240 rs996814177	174	Q>R		No	ClinGen Ensembl
rs1226962459 CA343220342	175	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA343220327 rs1217436331	176	L>F		No	ClinGen gnomAD
CA1191123 rs763774044	177	L>Q		No	ClinGen ExAC gnomAD
rs1172080816 CA343220309	179	R>K		No	ClinGen gnomAD
rs1431007581 CA343220299	180	A>D		No	ClinGen gnomAD
CA1191121 rs565373714	181	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371524691 CA1191119	184	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374424131 CA1191120	184	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774569388 CA1191118	186	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1557914579 CA343220248	187	Q>K		No	ClinGen Ensembl
rs1038417813 CA343220236	188	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA31390226 rs1038417813	188	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA31390224 rs142654422	189	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1191117 rs142654422	189	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200568267 CA1191115	192	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	192	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1191114 rs756470058	193	D>E		No	ClinGen ExAC gnomAD
rs748499130 CA1191113	194	M>I		No	ClinGen ExAC gnomAD
rs1410140566 CA343220150	194	M>T		No	ClinGen gnomAD
rs144521712 CA1191093	197	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs149299675 CA1191092	198	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289440367 CA343220064	199	L>P		No	ClinGen gnomAD
CA343220058 rs1226768169	200	N>S		No	ClinGen gnomAD
CA343220028 rs1364197951	204	H>R		No	ClinGen gnomAD
CA1191088 rs200351429	207	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138866715 CA1191089	207	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA343219984 rs1363703228	211	I>L		No	ClinGen gnomAD
CA343219986 rs1363703228	211	I>V		No	ClinGen gnomAD
rs752493657 CA1191087	213	E>G		No	ClinGen ExAC gnomAD
CA1191085 rs759877988	214	K>N		No	ClinGen ExAC gnomAD
CA1191084 rs150301697	215	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1191081 rs773278885	219	K>R		No	ClinGen ExAC gnomAD
rs1254891214 CA343219919	220	E>G		No	ClinGen gnomAD
CA343219923 rs1176485327	220	E>K		No	ClinGen TOPMed
rs778733437	220	E>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
RCV000974865 rs35975416 CA1191079	222	D>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1419699302 CA343219901	223	T>S		No	ClinGen TOPMed
rs747333973 CA1191075	224	E>K		No	ClinGen ExAC gnomAD
rs747333973 CA1191076	224	E>Q		No	ClinGen ExAC gnomAD
rs778558512 CA1191074	225	E>G		No	ClinGen ExAC TOPMed gnomAD
rs748751238 CA1191072	227	R>G		No	ClinGen ExAC TOPMed gnomAD
rs112274025 CA1191071	227	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748751238 CA1191073	227	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1191070 rs756056518	231	M>K		No	ClinGen ExAC gnomAD
rs752650536 CA1191069	233	E>*		No	ClinGen ExAC gnomAD
rs1181715692 CA343219823	234	V>A		No	ClinGen gnomAD
rs141306445 CA1191066	236	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1335404 CA1191067 rs141306445	236	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs112160389 CA1191068	236	R>W		No	ClinGen ExAC TOPMed gnomAD
CA31389763 rs575155556	238	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA343219796 rs1461000500	239	S>T		No	ClinGen gnomAD
CA1191065 rs766715218	240	I>F		No	ClinGen ExAC TOPMed gnomAD
CA343219777 rs763229713	241	Q>H		No	ClinGen ExAC gnomAD
rs556841676 CA1191063	243	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA1191062 rs765334726	243	Q>R		No	ClinGen ExAC gnomAD
CA1191061 rs762263186	244	E>D		No	ClinGen ExAC gnomAD
CA343219759 rs1205566738	244	E>G		No	ClinGen TOPMed gnomAD
rs1263845971 CA343219763	244	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	244	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1191059 rs769101923	246	L>V		No	ClinGen ExAC TOPMed gnomAD
rs761039977 CA1191058	247	E>Q		No	ClinGen ExAC gnomAD
rs200224853 CA31389741	249	K>M		No	ClinGen ExAC gnomAD
CA1191057 rs200224853	249	K>R		No	ClinGen ExAC gnomAD
TCGA novel	250	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748950548 CA1191055	251	R>G		No	ClinGen ExAC TOPMed gnomAD
CA343219678 rs1233731805	252	E>G		No	ClinGen gnomAD
CA1191054 rs777189214	253	E>Q		No	ClinGen ExAC gnomAD
CA1191052 COSM898084 rs747617357	254	R>I	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757029437 CA1191051	255	I>P		No	ClinGen ExAC gnomAD
rs1339739082 CA343219628	256	R>I		No	ClinGen TOPMed
rs772944551 CA1191036	257	G>R		No	ClinGen ExAC TOPMed gnomAD
rs370229782 CA343219236	259	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1191034 rs370229782	259	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767605282 COSM1335403 CA1191035	259	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA343219180 rs1454203464	264	Q>*		No	ClinGen TOPMed gnomAD
CA343219183 rs1454203464	264	Q>K		No	ClinGen TOPMed gnomAD
rs779750153 CA1191030	265	M>I		No	ClinGen ExAC gnomAD
rs746918360 CA1191032	265	M>K		No	ClinGen ExAC TOPMed gnomAD
rs746918360 CA1191031	265	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	266	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343219152 rs1557913494	266	E>G		No	ClinGen Ensembl
CA1191029 rs758241535	267	K>N		No	ClinGen ExAC gnomAD
CA31389122 rs972781859	268	N>K		No	ClinGen TOPMed
rs1188427550 CA343219096	270	E>D		No	ClinGen gnomAD
rs745600197 CA1191028	270	E>K		No	ClinGen ExAC gnomAD
rs961340993 CA31389116	271	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	271	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1191027 rs779208743	272	R>*		No	ClinGen ExAC TOPMed gnomAD
rs41264829 CA343219076	272	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41264829 CA31389109	272	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41264829 CA1191026	272	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151219155 CA1191025	273	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA343219073 rs1465779672	273	S>P		No	ClinGen gnomAD
rs753278916 CA1191023	279	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767864203 CA1191021	279	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753278916 CA1191022	279	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1479474050 CA343218992	280	E>V		No	ClinGen TOPMed
rs753806120	282	E>missing	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs547705787 CA1191019	282	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs765009883 CA1191017	284	E>K		No	ClinGen ExAC gnomAD
rs1163050562 CA343218930	285	Q>K		No	ClinGen gnomAD
CA343218916 rs1198312014	286	M>L		No	ClinGen TOPMed
rs372564105 CA1191016	286	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs990295458 CA31389075	287	L>M		No	ClinGen Ensembl
TCGA novel	287	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376776397 CA1191015	288	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA343218879 rs1318456689	289	Y>H		No	ClinGen TOPMed gnomAD
rs768247708 CA1191014	290	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1462824083 CA343218861	290	M>T		No	ClinGen gnomAD
rs16842789 CA1191013 VAR_059600	291	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA343218855 rs1164077281	291	E>K		No	ClinGen TOPMed gnomAD
rs1164077281 CA343218854	291	E>Q		No	ClinGen TOPMed gnomAD
rs1172681390 CA343218813	294	Q>*		No	ClinGen gnomAD
CA31389063 rs1054637350	298	L>I		No	ClinGen TOPMed gnomAD
rs772112494 CA1190993	300	D>N		No	ClinGen ExAC gnomAD
CA343218359 rs1345696453	300	D>V		No	ClinGen gnomAD
rs759377667 CA1190992	301	M>R		No	ClinGen ExAC gnomAD
COSM1688920 rs770746064 CA1190990	303	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749034897 CA1190989	305	Q>R		No	ClinGen ExAC
CA1190988 rs777985657	308	K>R		No	ClinGen ExAC TOPMed gnomAD
CA343218297 rs1571181619	309	L>P		No	ClinGen Ensembl
CA1190987 rs143489154	311	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748331211 CA1190986	312	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1238448 rs144418075 CA1190984	317	R>C	pancreas oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138411937 CA1190983	317	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM404388 rs139464711 CA1190982	318	I>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs374230806 CA31387891	319	N>D		No	ClinGen ESP TOPMed gnomAD
CA343218230 rs945554552	319	N>I		No	ClinGen TOPMed gnomAD
CA31387888 rs945554552	319	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	320	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343218227 rs1365860809	320	D>Y		No	ClinGen gnomAD
rs774341505 CA343218205	322	N>K		No	ClinGen TOPMed gnomAD
rs758851608 CA1190981	322	N>Y		No	ClinGen ExAC gnomAD
CA1190980 rs750755248	323	Q>K		No	ClinGen ExAC gnomAD
CA343218190 rs1442489425	324	K>E		No	ClinGen gnomAD
rs1442489425 CA343218189	324	K>Q		No	ClinGen gnomAD
rs763843109 CA1190979	325	Q>E		No	ClinGen ExAC gnomAD
rs1227520152 CA343218120	329	L>P		No	ClinGen gnomAD
rs1341081312 CA343218043	336	A>S		No	ClinGen gnomAD
CA1190975 rs145119988	338	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774296362 CA1190974	339	M>T		No	ClinGen ExAC gnomAD
CA343217983 rs1379597036	340	V>E		No	ClinGen TOPMed
CA1190973 rs367620563	340	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1229883341 CA343217964	341	M>I		No	ClinGen TOPMed
rs1447522245 CA343217871	348	M>V		No	ClinGen gnomAD
rs373901651 CA1190957	350	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373901651 CA1190958	350	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201265134 CA1190956	350	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA31387029 rs754460728 CA343217346	355	E>D		No	ClinGen ExAC TOPMed gnomAD
rs766373946 CA1190952	357	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1226752702 CA343217335	357	E>K		No	ClinGen gnomAD
CA1190951 rs762869231	358	Q>E		No	ClinGen ExAC gnomAD
rs773043218 CA1190950	359	E>Q		No	ClinGen ExAC gnomAD
rs764912939 CA1190949	360	R>K		No	ClinGen ExAC TOPMed gnomAD
rs151065115 CA1190946	362	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776738795 CA1190947	362	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1342612292 CA343217270	364	E>D		No	ClinGen TOPMed
CA1190945 rs747086286	365	K>E		No	ClinGen ExAC
rs148927436 CA1190944	366	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190943 rs144502475	369	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA343217232 rs779458678	370	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1190941 rs779458678	370	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757587000 CA1190940	371	R>C		No	ClinGen ExAC TOPMed gnomAD
rs369854463 CA1190938	371	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190939 rs369854463	371	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488035030 CA343217219	372	L>F		No	ClinGen TOPMed gnomAD
CA343217215 rs1489712541	373	R>K		No	ClinGen TOPMed
rs1246355241 CA343217203	375	M>V		No	ClinGen TOPMed gnomAD
rs1219571273 CA343217195	376	Q>K		No	ClinGen gnomAD
CA1190936 rs77887152	379	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	382	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343217130 rs1557911268	384	A>E		No	ClinGen Ensembl
CA1190934 rs377446208	385	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA343217090 rs1223465039	387	D>H		No	ClinGen TOPMed gnomAD
CA343217088 rs1223465039	387	D>N		No	ClinGen TOPMed gnomAD
rs1403659884 CA343217072	388	A>D		No	ClinGen TOPMed
CA343217063 rs1181647347	389	L>W		No	ClinGen gnomAD
COSM1335400 CA1190905 rs774486512	390	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1190906 rs759693544	390	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1483238059 CA343217029	393	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM279645 rs200252683 CA1190904	393	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1483238059 CA343217027	393	R>S		No	ClinGen TOPMed gnomAD
CA1190902 rs773494438	395	Q>P		No	ClinGen ExAC gnomAD
rs1226134271 CA343216983	396	E>D		No	ClinGen gnomAD
CA1190901 rs770179632	396	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368713797 CA31386922	397	V>A		No	ClinGen Ensembl
CA1190900 rs748460482	397	V>L		No	ClinGen ExAC gnomAD
rs779691349 CA1190899	398	A>S		No	ClinGen ExAC
rs779691349 CA343216973	398	A>T		No	ClinGen ExAC
CA1190897 rs771643316	399	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778471730 CA1190895	401	E>D		No	ClinGen ExAC TOPMed gnomAD
rs745433119 CA1190896	401	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1008019759 CA31386911	402	W>*		No	ClinGen TOPMed gnomAD
CA1190893 rs147608015	402	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190892 rs753777685 COSM424292	403	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1190891 COSM898080 rs778198689	403	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA343216887 rs778198689	403	R>L		No	ClinGen ExAC gnomAD
CA343216890 rs778198689	403	R>P		No	ClinGen ExAC gnomAD
rs755987678 CA1190890	404	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1469229713 CA343216842	406	E>*		No	ClinGen gnomAD
CA1190889 rs534321877	408	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs767920511 CA1190888	410	A>T		No	ClinGen ExAC gnomAD
CA1190885 rs766454855	411	R>G		No	ClinGen ExAC TOPMed gnomAD
rs377248471 CA1190884	411	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766454855 CA1190886 COSM2084815	411	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA31386900 rs925001221	414	M>T		No	ClinGen TOPMed
TCGA novel	415	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557911029 CA343216682	416	T>R		No	ClinGen Ensembl
rs773795488 CA1190881	419	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1190880 rs765671702	421	R>*		No	ClinGen ExAC gnomAD
COSM1335399 CA343216611 rs1299748087	421	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201808038 CA1190879	422	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA343216576 rs1232060420	424	R>Q		No	ClinGen gnomAD
CA1190877 rs771767770	424	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1190875 rs773772527	426	E>G		No	ClinGen ExAC gnomAD
rs770505708 CA1190874	427	Q>*		No	ClinGen ExAC gnomAD
CA343216533 rs1294275537	427	Q>H		No	ClinGen gnomAD
rs1571178900 CA343216522	428	V>G		No	ClinGen Ensembl
CA1190873 rs748696479	428	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1190871 rs756117391	433	H>Q		No	ClinGen ExAC gnomAD
CA1190872 rs201121537	433	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs369433355 CA1190870	434	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA343216397 rs1191557079	436	A>V		No	ClinGen TOPMed gnomAD
rs1485614078 CA343216366	439	V>A		No	ClinGen Ensembl
rs1485614078 CA343216363	439	V>G		No	ClinGen Ensembl
CA1190868 rs115344670	441	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343216340 rs115344670	441	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1190867 rs115344670	441	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343216343 rs1202413837 COSM207183	441	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1190866 rs766466381	442	D>G		No	ClinGen ExAC gnomAD
rs868548181 CA343216338	442	D>H		No	ClinGen TOPMed gnomAD
CA31386883 rs868548181	442	D>N		No	ClinGen TOPMed gnomAD
CA343216324 rs1026999934	443	R>G		No	ClinGen TOPMed gnomAD
CA1190864 rs368005515	443	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026999934 CA31386879	443	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1190862 rs762291486	446	F>L		No	ClinGen ExAC gnomAD
TCGA novel	447	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1190860 rs777027378	447	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343216262 rs1380330585	448	R>G		No	ClinGen TOPMed
CA1190858 COSM1283960 rs760907702	451	R>Q	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs764409056 CA1190859	451	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761114105 CA1190841	452	A>D		No	ClinGen ExAC TOPMed gnomAD
rs761114105 CA343215930	452	A>G		No	ClinGen ExAC TOPMed gnomAD
rs761114105 CA343215928	452	A>V		No	ClinGen ExAC TOPMed gnomAD
CA343215924 rs1473505321	453	Q>E		No	ClinGen TOPMed
rs550989663 CA1190839	453	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1190840 rs753000535	453	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1190838 rs762492511	456	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA343215877 rs1442980876	456	Q>H		No	ClinGen gnomAD
rs146416790 CA343215812	461	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190835 rs146416790 COSM898078	461	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1190837 rs369393077	461	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190834 rs776727032	462	L>M		No	ClinGen ExAC gnomAD
CA1190833 rs768407933	462	L>R		No	ClinGen ExAC TOPMed gnomAD
rs201098011 CA1190831	463	E>G		No	ClinGen ExAC gnomAD
CA343215798 rs1336883862	463	E>K		No	ClinGen TOPMed
rs772383752 CA1190830	464	E>G		No	ClinGen ExAC gnomAD
rs1450281883 CA343215788	464	E>K		No	ClinGen gnomAD
rs746056656 CA1190829	465	E>G		No	ClinGen ExAC
CA1190828 rs779065685	466	K>E		No	ClinGen ExAC
TCGA novel	466	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	467	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383072854 CA343215728	468	A>S		No	ClinGen gnomAD
CA1190827 rs757349741	469	T>K		No	ClinGen ExAC gnomAD
CA1190824 rs557035183	471	R>C		No	ClinGen ExAC TOPMed gnomAD
rs866030213 CA31382352	471	R>H		No	ClinGen TOPMed
rs557035183 CA343215697	471	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1190823 rs200865553	473	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374859094 CA1190822	474	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA31382341 rs919429612	474	H>R		No	ClinGen TOPMed gnomAD
CA343215674 rs1266880110	474	H>Y		No	ClinGen TOPMed
rs759943156 CA1190821	476	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1483999850 CA343215655	477	E>Q		No	ClinGen TOPMed
CA343215653 rs1181613987	477	E>V		No	ClinGen gnomAD
CA343215642 rs764928746	479	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764928746 CA1190819	479	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371893609 CA1190820	479	R>W	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367766458 CA1190817	480	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs147644439 CA1190816	480	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs147644439 CA343215639	480	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367766458 CA1190818	480	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA343215606 rs1282420064	483	R>C		No	ClinGen gnomAD
CA1190815 rs545770745	483	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1244364355 CA343215588	484	E>G		No	ClinGen gnomAD
CA1190812 COSM1295322 rs745611980	484	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA31382294 rs964290500	485	N>I		No	ClinGen Ensembl
rs761424590 CA31382290	486	Q>R		No	ClinGen Ensembl
CA343215502 rs1371631735	488	K>N		No	ClinGen TOPMed
CA343215478 rs1367929505	490	V>L		No	ClinGen gnomAD
CA1190811 rs779120554	491	Q>*		No	ClinGen ExAC
rs1030629414 CA31382280	492	N>S		No	ClinGen TOPMed
COSM1668130 rs148876212 CA1190809	493	R>G	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs375439463 CA1190808	493	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148876212 CA1190810	493	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372255531 CA1190807	494	I>T		No	ClinGen ESP ExAC gnomAD
rs748956488 CA31382273	496	T>A		No	ClinGen Ensembl
rs1405460234 CA343215313	499	E>G		No	ClinGen TOPMed gnomAD
rs368314687 CA1190805	501	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779941278 CA1190806	501	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1190803 rs751910284	502	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1187771080 CA343214779	502	R>H		No	ClinGen TOPMed gnomAD
CA343214775 rs1357720299	503	L>I		No	ClinGen TOPMed gnomAD
rs1357720299 CA343214774	503	L>V		No	ClinGen TOPMed gnomAD
CA1190802 rs765053429	504	K>T		No	ClinGen ExAC gnomAD
CA1190801 rs756953474	505	E>K		No	ClinGen ExAC TOPMed
CA343214753 rs1223987342	506	E>*		No	ClinGen gnomAD
rs753434285 CA1190799	506	E>G		No	ClinGen ExAC TOPMed gnomAD
rs760190244 CA1190797	510	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1190795 rs377234702	510	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377234702 CA1190796	510	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA343214719 rs760190244	510	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1190794 rs556361801	511	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	511	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1190793 rs145923860	511	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1190792 rs139132888	513	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1190791 rs142022446	513	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1190790 rs142022446	513	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343214681 rs142022446	513	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA31382195 rs144795673	514	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343214676 rs1557909825	514	I>V		No	ClinGen Ensembl
COSM1335398 rs200089318 CA1190788	515	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA343214640 rs1279266808	516	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA343214652 rs1231849646	516	E>K		No	ClinGen TOPMed
rs1348508123 CA343214615	518	K>N		No	ClinGen TOPMed
rs781558232 CA1190787	520	K>R		No	ClinGen ExAC gnomAD
CA1190786 rs201861835	522	L>P		No	ClinGen ExAC TOPMed gnomAD
CA31382177 rs557820935	524	E>K		No	ClinGen gnomAD
rs1135326 CA31381934	528	T>P		No	ClinGen TOPMed
CA31381931 rs1024411171	530	L>F		No	ClinGen TOPMed
rs751522524 CA1190757	532	E>K		No	ClinGen ExAC gnomAD
CA343214364 rs1403575330	535	C>F		No	ClinGen gnomAD
CA1190756 rs766249148	535	C>R		No	ClinGen ExAC TOPMed gnomAD
rs762663516 CA1190755	536	I>F		No	ClinGen ExAC gnomAD
rs1003313613 CA31381914	536	I>T		No	ClinGen gnomAD
CA343214313 rs1364579236	539	E>D		No	ClinGen gnomAD
CA1190754 rs750232207	540	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1190753 rs765439759	540	R>H		No	ClinGen ExAC gnomAD
TCGA novel	540	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343214287 rs1184698148	542	A>T		No	ClinGen gnomAD
rs1023438050 CA31381887	542	A>V		No	ClinGen TOPMed gnomAD
CA1190751 rs186231882	543	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1190748 rs776151953	544	I>N		No	ClinGen ExAC TOPMed gnomAD
CA1190749 rs760785568	544	I>V		No	ClinGen ExAC gnomAD
TCGA novel	547	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343214241 rs1313378938	548	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1313378938 CA343214243	548	T>N		No	ClinGen gnomAD
CA343214234 rs1557909574	550	V>M		No	ClinGen Ensembl
CA343214203 rs1245107742	552	N>W		No	ClinGen gnomAD

No associated diseases with Q9UL16

9 regional properties for Q9UL16

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	423 - 646	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1211 - 1444	IPR003439-2
domain	AAA+ ATPase domain	450 - 639	IPR003593-1
domain	AAA+ ATPase domain	1237 - 1419	IPR003593-2
domain	ABC transporter type 1, transmembrane domain	82 - 350	IPR011527-1
domain	ABC transporter type 1, transmembrane domain	860 - 1158	IPR011527-2
conserved_site	ABC transporter-like, conserved site	548 - 562	IPR017871
domain	CFTR regulator domain	639 - 849	IPR025837
domain	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette domain 1	389 - 670	IPR047082

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, cilium axoneme Cytoplasm, cytoskeleton, flagellum axoneme	Located in the proximal region of respiratory cilia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
9+0 motile cilium	A motile cilium where the axoneme has a ring of nine outer microtubule doublets but no central microtubules (and is therefore called a 9+0 axoneme).
9+2 motile cilium	A motile cilium where the axoneme has a ring of nine outer microtubule doublets plus two central microtubules (and is therefore called a 9+2 axoneme).
axonemal microtubule	A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules.
axoneme	The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name	Definition
AMP binding	Binding to AMP, adenosine monophosphate.

5 GO annotations of biological process

Name	Definition
cerebrospinal fluid circulation	The neurological system process driven by motile cilia on ependymal cells of the brain by which cerebrospinal fluid circulates from the sites of secretion to the sites of absorption. In ventricular cavities, the flow is unidirectional and rostrocaudal, in subarachnoid spaces, the flow is multi-directional.
epithelial cilium movement involved in determination of left/right asymmetry	The movement of cilia of epithelial cells of the Left Right Organizer (LRO), also referred to as the node in mouse or the Kupffer's vesicle in zebrafish, resulting in the leftward fluid flow across the LRO and generation or transport of a signal which determines asymmetry in an organism's body plan with respect to the left and right halves.
establishment of left/right asymmetry	The initial formation of the type asymmetry in an organism's body plan or part of an organism with respect to the left and right halves.
flagellated sperm motility	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
regulation of cilium beat frequency involved in ciliary motility	Any process that modulates the frequency of cilium beating involved in ciliary motility.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MPLSTAGILS	SSSAASNRSR	NKARYRTKAV	SSEVDESLFG	DIKSPAQGQS	DSPIVLLRDK
70	80	90	100	110	120
HTLQKTLTAL	GLDRKPETIQ	LITRDMVREL	IVPTEDPSGE	SLIISPEEFE	RIKWASHVLT
130	140	150	160	170	180
REELEARDQA	FKKEKEATMD	AVMTRKKIMK	QKEMVWNNNK	KLSDLEEVAK	ERAQNLLQRA
190	200	210	220	230	240
NKLRMEQEEE	LKDMSKIILN	AKCHAIRDAQ	ILEKQQIQKE	LDTEEKRLDQ	MMEVERQKSI
250	260	270	280	290	300
QRQEELERKR	REERIRGRRQ	IVEQMEKNQE	ERSLLAEQRE	QEKEQMLEYM	EQLQEEDLKD
310	320	330	340	350	360
MERRQQQKLK	MQAEIKRIND	ENQKQKAELL	AQEKLADQMV	MEFTKKKMAR	EAEFEAEQER
370	380	390	400	410	420
IRREKEKEIA	RLRAMQEKAQ	DYQAEQDALR	AKRNQEVADR	EWRRKEKENA	RKKMETEAEL
430	440	450	460	470	480
RKSRLEQVAF	KEHALAVQVQ	RDRDEFERIL	RAQREQIEKE	RLEEEKKATG	RLQHANELRR
490	500	510	520	530	540
QVRENQQKEV	QNRIATFEEG	RRLKEEAQKR	RERIDEIKRK	KLEELRATGL	PEKYCIEAER
550
KANILPATSV	N