AiPD: Autoinhibited Protein Database

Q9BTW9

Gene name	TBCD (KIAA0988, SSD1, TFCD, PP1096)
Protein name	Tubulin-specific chaperone D
Names	Beta-tubulin cofactor D, tfcD, SSD-1, Tubulin-folding cofactor D
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6904
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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 Q9BTW9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BTW9-F1	Predicted				AlphaFoldDB

1030 variants for Q9BTW9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8861496 rs533171147 RCV001329506	10	G>D	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1394649624 CA401622384 RCV001332704	44	R>P	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2047391529 RCV001332706	72	H>Y	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1409600874 RCV000995888 RCV000762220 CA401622611	77	H>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8861555 rs747070586 RCV001329507	107	Y>C	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001336902 rs2048013005	130	E>D	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000624872 rs560749650 RCV001860444 CA8861680	209	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000258908 CA8861712 VAR_077968 rs778417127	229	L>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000479322 RCV000764151 rs1064796675 CA16620656	294	R>W	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001008022 rs773790897 RCV000853292 CA8861835	323	R>*	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1419604407 CA401619657 RCV002529048 RCV000578893	330	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs953299085 COSM986175 VAR_077969 CA295243124	374	T>M	Variant assessed as Somatic; impact. endometrium PEBAT; severely decreased interaction with beta tubulin; does not affect localization to centrosome [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP
rs183349235 CA295243164 RCV002242181 RCV001332703	376	V>M	Variant assessed as Somatic; 5.361e-05 impact. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD
RCV000258901 VAR_077970 rs764085684 CA8861900	377	R>Q	Variant assessed as Somatic; 0.0 impact. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased protein abundance; severely decreased interaction with beta tubulin; does not affect localization to centrosome [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
VAR_077971 rs886041086 CA10602688 RCV000258898	387	M>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased function in neuron morphogenesis; severely decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000494236 RCV002524019 rs763143236 CA8861967	415	A>V	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001249655 rs762115783 CA8861971	419	G>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
CA8862526 rs373604816 RCV001336896	442	A>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1311737177 RCV000853291 CA401620006	447	A>V	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001089986 rs1567926154 CA401620438	467	A>T	Variant assessed as Somatic; 0.0 impact. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001610768 VAR_077972 rs775014444 RCV000335816 CA8862558	475	A>T	Variant assessed as Somatic; 0.0 impact. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased function in tubulin complex assembly; increased protein degradation [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
CA8862561 RCV000996628 RCV001256001 rs756576748	478	Y>C	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA401622819 rs752953575 RCV000995889	502	R>G	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1567966866 RCV000714809 CA401624935	513	A>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000425448 RCV002525487 rs550172307 RCV001336897 CA8862675	539	V>I	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000723330 RCV000522161 CA401628072 rs1555641324	554	A>V	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001858617 rs758413695 RCV000985233 CA8862717	571	K>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_077973 rs1567999844 CA401630045	586	A>V	PEBAT; decreased function in tubulin complex assembly [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs749225304 VAR_077974 CA8862809 RCV002518796 RCV000258894	626	A>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased protein abundance; does not affect localization to centrosome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs2060355104 RCV001332705	653	Q>*	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001267696 rs2061363316	700	I>missing	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
CA401632841 rs200903034 RCV000714529 RCV000714528	713	H>D	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Thiel-Behnke corneal dystrophy [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA401633004 rs1568053442 RCV000785942	737	C>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8862997 RCV002546797 RCV001483779 rs34791072 RCV001336898	747	E>K	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001336899 rs374216515 CA8863012 RCV002546798	758	T>M	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs754750539 CA8863014 RCV000258906 RCV000523090	760	Y>*	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001249656 rs2061632089	769	E>missing	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
rs181969865 CA10602686 VAR_077975 RCV000258905	772	R>C	Variant assessed as Somatic; 0.0 impact. Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased function in neuron morphogenesis; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD
RCV001095663 CA8863020 rs186699341 RCV000916037 RCV002540899	776	S>L	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752473581 RCV001336900 CA8863050 RCV002546799	810	S>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2061771729 RCV001332707	822	I>V	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
rs749860401 RCV000624837 CA401633982	823	A>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000896766 rs202149526 CA8863110 RCV001336901	856	M>V	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1369909567 RCV001332708	860	T>I	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
CA8863185 RCV001332709 rs745875454 RCV002546593 RCV001865764	897	H>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000258913 VAR_077976 CA10602687 rs886041085	921	A>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs745410700 RCV001332710 CA8863227	922	A>T	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001267697 rs775950678 CA8863236	930	H>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10602689 VAR_077977 rs886041087 RCV000258900	937	P>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; decreased interaction with TBCE; decreased interaction with beta tubulin; does not affect interaction with ARL2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_077978 CA295301594 rs867484272	994	T>M	PEBAT; unknown pathological significance [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA8863415 rs760635077 RCV000995891 RCV001858824	1042	P>L	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2062710087 RCV001089987	1065	H>R	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001194226 RCV001262005 rs2062710977 RCV001553029	1071	L>W	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinVar dbSNP
CA8863566 RCV001254044 rs772606107	1103	G>S	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8863572 rs764003906 VAR_077979	1105	V>M	PEBAT; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000258893 CA8863580 rs755177846 RCV001859530 VAR_077980	1122	P>L	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome PEBAT; severely decreased protein abundance; does not affect localization to centrosome; decreased interaction with ARL2; decreased interaction with TBCE; decreased interaction with beta tubulin [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1265837740 RCV001329508 RCV002293524 CA401636900	1171	R>C	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001329509 CA8863679 RCV002546330 rs775453008	1171	R>L	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8863684 RCV001329510 RCV002546331 rs767635450	1180	V>I	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA401622122 rs1279157812	2	A>T		No	ClinGen gnomAD
rs1370974061 CA401622127	2	A>V		No	ClinGen gnomAD
CA401622140 rs1333992290	4	S>R		No	ClinGen gnomAD
CA401622142 rs1354004393	5	D>H		No	ClinGen TOPMed
CA295248404 rs1010575243	6	E>*		No	ClinGen TOPMed gnomAD
CA401622149 rs1010575243	6	E>K		No	ClinGen TOPMed gnomAD
CA401622150 rs1010575243	6	E>Q		No	ClinGen TOPMed gnomAD
CA401622159 rs1291478820	7	P>Q		No	ClinGen gnomAD
CA401622162 rs1203424416	8	A>T		No	ClinGen gnomAD
rs1473086651 CA401622166	8	A>V		No	ClinGen TOPMed
CA401622171 rs1184731475	9	A>E		No	ClinGen gnomAD
CA401622168 rs1482289223	9	A>T		No	ClinGen gnomAD
CA8861495 rs11550062	10	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401622180 rs1406007129	11	G>D		No	ClinGen gnomAD
CA295248442 rs1044663167	11	G>R		No	ClinGen TOPMed gnomAD
CA401622185 rs1449546253	12	P>S		No	ClinGen TOPMed
rs1411439196 CA401622190	13	E>K		No	ClinGen gnomAD
CA295248456 rs907337469	14	E>K		No	ClinGen TOPMed
CA8861499 rs761196902	15	E>A		No	ClinGen ExAC gnomAD
CA8861500 rs769438572	16	A>T		No	ClinGen ExAC gnomAD
CA8861501 rs775011890	17	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1003016750 CA295248477	18	D>E		No	ClinGen TOPMed gnomAD
CA8861502 rs762541329	18	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1348366650 CA401622231	19	E>*		No	ClinGen TOPMed
CA295248489 rs1026336168	20	T>I		No	ClinGen TOPMed gnomAD
rs1253057697 CA401622252	22	A>V		No	ClinGen TOPMed gnomAD
CA401622267 rs1473185255	25	A>T		No	ClinGen gnomAD
CA295248545 rs916503100	28	E>K		No	ClinGen TOPMed gnomAD
CA401622297 rs1431928097	30	F>I		No	ClinGen gnomAD
CA401622308 rs1169464820	31	G>D		No	ClinGen TOPMed gnomAD
rs765300095 CA295248550	32	E>Q		No	ClinGen Ensembl
CA401622319 rs1394043293	33	S>G		No	ClinGen gnomAD
rs1336113939 CA401622321	33	S>N		No	ClinGen gnomAD
CA8861506 rs767510826	34	A>G		No	ClinGen ExAC gnomAD
CA401622337 rs1343661192	35	E>D		No	ClinGen gnomAD
CA8861507 rs750366038	37	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401622354 rs1347638638	38	A>E		No	ClinGen gnomAD
rs1568080255 CA401622349	38	A>T		No	ClinGen Ensembl
CA8861509 rs543962889	39	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193088336 CA401622367	41	G>D		No	ClinGen gnomAD
rs1451379724 CA401622372	42	R>C		No	ClinGen TOPMed gnomAD
rs1221032061 CA401622375	42	R>L		No	ClinGen TOPMed
rs1451379724 CA401622370	42	R>S		No	ClinGen TOPMed gnomAD
CA401622382 rs1394649624	44	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA295248588 rs973440027	44	R>W		No	ClinGen Ensembl
rs755197813 CA8861511	45	E>*		No	ClinGen ExAC gnomAD
rs779180075 CA8861512	46	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1400103676 CA401622399	47	H>P		No	ClinGen TOPMed gnomAD
rs1400103676 CA401622400	47	H>R		No	ClinGen TOPMed gnomAD
CA295248603 rs955360162	47	H>Y		No	ClinGen TOPMed gnomAD
CA401622404 rs1366788831	48	G>S		No	ClinGen TOPMed gnomAD
CA295248632 rs924349931	49	G>A		No	ClinGen TOPMed
rs1368252860 CA401622426	51	A>V		No	ClinGen gnomAD
rs772565321 CA8861514	52	E>K		No	ClinGen ExAC gnomAD
rs1412323506 CA401622435	53	R>G		No	ClinGen TOPMed
rs1412323506 CA401622434	53	R>S		No	ClinGen TOPMed
rs933572056 CA295248636	54	E>*		No	ClinGen TOPMed gnomAD
rs933572056 CA401622440	54	E>K		No	ClinGen TOPMed gnomAD
rs778221063 CA8861515	58	E>K		No	ClinGen ExAC gnomAD
rs911971278 CA295248661 RCV000514604	59	R>Q		No	ClinGen ClinVar TOPMed dbSNP
rs1272684905 CA401622506	62	V>A		No	ClinGen gnomAD
CA8861527 rs760641255	63	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8861528 rs766312013	64	M>T		No	ClinGen ExAC TOPMed gnomAD
rs368034858 CA295253121	64	M>V		No	ClinGen ESP
rs1323602692 CA401622525	65	D>G		No	ClinGen TOPMed
CA401622534 rs1179664249	66	K>R		No	ClinGen gnomAD
rs1414112759 CA401622543 CA401622544	67	Y>*		No	ClinGen gnomAD
rs1598367135 CA401622542	67	Y>S		No	ClinGen Ensembl
rs1472911081 CA401622547	68	Q>*		No	ClinGen gnomAD
rs1164127534 CA401622583	73	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1164127534 CA401622584	73	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8861531 rs778788163	76	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401622605 rs1458979097	76	P>S		No	ClinGen gnomAD
CA401622613 rs1409600874	77	H>L		No	ClinGen gnomAD
CA8861545 rs766292394	79	E>G		No	ClinGen ExAC gnomAD
CA295253205 rs893196978	79	E>K		No	ClinGen Ensembl
rs1377536682 CA401625553	80	W>C		No	ClinGen gnomAD
rs960027388 CA295260624	81	M>L		No	ClinGen TOPMed gnomAD
CA401625576 rs1313607479	81	M>T		No	ClinGen TOPMed gnomAD
rs776631367 CA8861546	84	L>F		No	ClinGen ExAC gnomAD
CA8861547 rs759330567	88	I>T		No	ClinGen ExAC gnomAD
rs375951418 CA8861548	89	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401625791 rs1351399026	90	Q>E		No	ClinGen TOPMed
CA8861549 rs752783454	90	Q>R		No	ClinGen ExAC gnomAD
rs1254176772 CA401625864	92	Q>R		No	ClinGen gnomAD
TCGA novel	93	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162350932 CA401625962	97	S>F		No	ClinGen TOPMed
CA8861550 rs758732870	98	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8861551 rs535565721	99	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs757694767 CA8861553	100	H>P		No	ClinGen ExAC TOPMed
rs369135151 CA8861552	100	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs974054390 CA295260706	103	F>L		No	ClinGen Ensembl
TCGA novel	104	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs546964087 CA295260712	104	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1447095988 CA401626070	105	F>L		No	ClinGen gnomAD
CA8861556 rs746401695	108	I>N		No	ClinGen ExAC gnomAD
CA401626145 rs1430835388	108	I>V		No	ClinGen gnomAD
TCGA novel	110	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8861559 rs778520826	110	T>I		No	ClinGen ExAC gnomAD
CA8861558 rs778520826 COSM1267489	110	T>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs907883723 CA295260797	111	K>E		No	ClinGen TOPMed
rs750717767 CA8861577 RCV000598715	113	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8861578 rs756688672	114	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401627220 rs1461837043	115	Y>N		No	ClinGen TOPMed
rs752265380 CA8861580	115	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757905191 CA401627244	116	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8861583 rs201192044	117	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8861582 rs201192044	117	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285955882 CA401627260	118	F>L		No	ClinGen gnomAD
CA8861585 rs781081247	119	L>R		No	ClinGen ExAC gnomAD
rs563090446 CA295262430	120	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA8861586 rs745626891	120	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401627326 rs1489691664	123	P>L		No	ClinGen gnomAD
rs769827032 CA8861587	123	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401627339 rs1469262780	124	H>Q		No	ClinGen TOPMed
CA401627335 rs1411887514	124	H>R		No	ClinGen gnomAD
rs1200519595 CA401627330	124	H>Y		No	ClinGen TOPMed gnomAD
rs775562890 CA8861588	127	A>P		No	ClinGen ExAC TOPMed gnomAD
CA295262444 rs868046572	127	A>V		No	ClinGen Ensembl
CA8861591 rs774524442	128	D>A		No	ClinGen ExAC gnomAD
CA8861590 rs768872489	128	D>H		No	ClinGen ExAC TOPMed gnomAD
CA401627383 rs768872489	128	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1001105641 CA295262469	129	V>I		No	ClinGen TOPMed
CA295262478 rs1001105641	129	V>L		No	ClinGen TOPMed
rs1307246033 CA401627434	133	L>S		No	ClinGen gnomAD
rs750852323 CA8861595	135	L>M		No	ClinGen ExAC TOPMed gnomAD
CA401627471 rs1288886937	136	V>I		No	ClinGen TOPMed gnomAD
CA295262514 rs530523082	137	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8861596 rs530523082	137	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1291589060 CA401627495	138	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	141	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598403897 CA401627578	144	H>R		No	ClinGen Ensembl
CA401627586 rs1483086820	145	E>Q		No	ClinGen gnomAD
rs1199292715 CA401627669	147	W>C		No	ClinGen gnomAD
CA401627680 rs1281282573	149	T>A		No	ClinGen gnomAD
rs771105928 CA8861633	150	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777029100 CA8861634	150	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370611069 CA295264386	151	Y>C		No	ClinGen ESP TOPMed gnomAD
COSM562733 rs765798426 CA8861636	152	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs892804364 CA295264394	155	L>P		No	ClinGen Ensembl
CA295264400 rs1020017368	159	V>M		No	ClinGen TOPMed gnomAD
CA8861640 rs749909437	163	I>T		No	ClinGen ExAC gnomAD
rs1317888785 CA401627807	168	S>C		No	ClinGen gnomAD
CA8861641 rs755871476	169	R>C		No	ClinGen ExAC gnomAD
rs1382474660 COSM1522724 CA401627813	169	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA401627825 rs753748524	171	D>E		No	ClinGen ExAC TOPMed gnomAD
rs766111987 CA8861642	171	D>G		No	ClinGen ExAC gnomAD
CA401627829 rs1231471894	172	G>R		No	ClinGen gnomAD
CA401627836 rs1598410621	173	N>T		No	ClinGen Ensembl
rs570409629 CA295264438	178	P>R		No	ClinGen gnomAD
rs1277122701 CA401627867	178	P>S		No	ClinGen gnomAD
rs1228301388 CA401627879	180	Q>E		No	ClinGen gnomAD
CA8861644 rs201980005	181	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8861645 rs567077237	182	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs569286722 CA8861646	185	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8861647 rs758313349	186	M>I		No	ClinGen ExAC gnomAD
CA401627917 rs1598410664	186	M>V		No	ClinGen Ensembl
rs916586108 CA295264444	187	D>G		No	ClinGen Ensembl
CA8861648 rs533823047	187	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8861650 rs558681233	188	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1269539219 CA401627931	188	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8861649 rs558681233	188	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401627936 rs1472257488	189	I>V		No	ClinGen gnomAD
rs941441669 CA295264489	193	A>T		No	ClinGen TOPMed gnomAD
CA8861672 rs549301332	195	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA401629245 rs1312176002	196	Y>C		No	ClinGen gnomAD
rs1452093587 CA401629300	198	I>T		No	ClinGen TOPMed
CA401629282 rs1161761682	198	I>V		No	ClinGen TOPMed
rs1248494841 COSM1387534 CA401629360	201	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769105077 CA8861674	201	D>N		No	ClinGen ExAC gnomAD
rs1449387690 CA401629416	204	R>*		No	ClinGen gnomAD
CA8861675 rs774998453	204	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8861677 rs770581827	205	D>G		No	ClinGen ExAC gnomAD
rs759299241 CA8861679	208	A>S		No	ClinGen ExAC TOPMed gnomAD
CA401629573 rs1183852307 COSM986173	211	V>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8861682 rs762803364	211	V>M		No	ClinGen ExAC gnomAD
CA295272678 rs772961655	213	R>G		No	ClinGen gnomAD
rs763729051 CA8861683	213	R>K		No	ClinGen ExAC gnomAD
CA295278901 rs891915671	216	T>K		No	ClinGen Ensembl
CA8861708 rs755109975	217	R>C		No	ClinGen ExAC gnomAD
rs779456572 CA8861709	218	P>R		No	ClinGen ExAC TOPMed gnomAD
CA401631509 rs1299115282	218	P>S		No	ClinGen gnomAD
CA401631551 rs1326425201	221	K>T		No	ClinGen gnomAD
CA8861711 rs565743076	222	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1349345713 CA401631579	225	M>V		No	ClinGen TOPMed
rs747406617 CA8861713	230	D>N		No	ClinGen ExAC gnomAD
CA8861715 rs539682839	231	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8861714 rs539682839	231	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1425258350 CA401631636	232	S>R		No	ClinGen gnomAD
CA8861716 rs748999969	234	C>G		No	ClinGen ExAC gnomAD
rs768267548 CA8861717	238	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3378406 CA8861718 rs370029470	238	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs761583961 CA8861719	239	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1034610778 CA295278976	241	F>L		No	ClinGen Ensembl
rs1347156825 CA401631754	242	Q>R		No	ClinGen gnomAD
rs1405527585 CA401631760	243	T>A		No	ClinGen gnomAD
rs552699232 CA8861723	244	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401631785 rs1467543987	246	G>V		No	ClinGen gnomAD
CA8861725 rs753825990	247	V>F		No	ClinGen ExAC gnomAD
CA8861724 rs753825990	247	V>I		No	ClinGen ExAC gnomAD
rs765538480 CA8861726	249	T>I		No	ClinGen ExAC gnomAD
CA401631803 rs1218920095	250	M>V		No	ClinGen gnomAD
CA401631816 rs1490935890	251	D>G		No	ClinGen gnomAD
rs1290088207 CA401631811	251	D>N		No	ClinGen TOPMed gnomAD
rs375958159 CA8861727	253	T>M		No	ClinGen ESP ExAC gnomAD
CA401631837 rs1468674087	255	Q>*		No	ClinGen gnomAD
CA401631845 rs1178970120	256	A>S		No	ClinGen gnomAD
CA401633050 rs1247156871	259	Q>H		No	ClinGen TOPMed gnomAD
CA401633043 rs1338295457	259	Q>K		No	ClinGen gnomAD
CA401633056 rs1487690279	260	I>L		No	ClinGen gnomAD
CA8861760 rs545640245	263	H>N		No	ClinGen 1000Genomes ExAC
rs1297418593 CA401633113	265	K>E		No	ClinGen gnomAD
rs747824288 CA8861761	265	K>R		No	ClinGen ExAC gnomAD
rs563325518 CA8861762	266	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1274264790 CA401633130	266	R>H		No	ClinGen TOPMed gnomAD
CA295292661 rs1041880215	267	E>K		No	ClinGen Ensembl
CA8861765 rs770963737	268	D>E		No	ClinGen ExAC gnomAD
rs746762918 CA8861764	268	D>N		No	ClinGen ExAC gnomAD
rs1392453972 CA401633170	269	C>F		No	ClinGen TOPMed
rs1392453972 CA401633166	269	C>Y		No	ClinGen TOPMed
CA8861766 rs776434912	272	Y>F		No	ClinGen ExAC gnomAD
rs759485255 CA8861767	273	A>T		No	ClinGen ExAC gnomAD
CA8861789 rs774443065	273	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	274	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401633353 rs1431747846	276	V>D		No	ClinGen TOPMed gnomAD
CA8861790 rs762038197	277	L>F		No	ClinGen ExAC gnomAD
TCGA novel	278	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767798433 CA401633377	278	R>S		No	ClinGen ExAC TOPMed gnomAD
RCV000658796 rs1345239400 CA401633406	281	D>N		No	ClinGen ClinVar dbSNP gnomAD
rs1359737686 CA401633452	284	R>K		No	ClinGen TOPMed
CA401633479 rs1285688363	286	P>S		No	ClinGen gnomAD
CA8861794 rs766852726	288	S>G		No	ClinGen ExAC gnomAD
TCGA novel	288	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293251631 COSM1522723 CA401633543	290	Q>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1598577206 CA401633548	291	T>P		No	ClinGen Ensembl
CA8861795 rs375327000	292	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA295295915 rs949623707 RCV000521475	294	R>Q		No	ClinGen ClinVar TOPMed dbSNP
rs574847599 CA401633614	297	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8861796 rs574847599	297	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1288934477 CA401633666	301	V>A		No	ClinGen gnomAD
rs1333807670 CA401633658	301	V>L		No	ClinGen TOPMed
rs751190601 CA8861798	303	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756891794 CA8861799	303	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1269463580 CA401633694	304	L>V		No	ClinGen gnomAD
CA8861800 rs781170967	305	G>V		No	ClinGen ExAC gnomAD
rs756178662 CA8861802	307	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1598577381 CA401633733	309	L>R		No	ClinGen Ensembl
rs1162258155 CA401633738	310	K>R		No	ClinGen TOPMed gnomAD
rs780136255 CA8861803	311	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8861804 rs780136255	311	P>R		No	ClinGen ExAC TOPMed gnomAD
CA401633765 rs1423083288	314	A>V		No	ClinGen TOPMed gnomAD
CA401633767 rs768633151	315	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768633151 CA8861805	315	A>T		No	ClinGen ExAC gnomAD
rs748352875 CA8861807	316	W>L		No	ClinGen ExAC gnomAD
CA401619537 rs1598611350	318	Y>S		No	ClinGen Ensembl
rs1240709920 CA401619554	319	Q>R		No	ClinGen gnomAD
rs771304008 CA8861832	320	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759999176 COSM986174 CA8861833	320	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771304008 CA8861831	320	R>S		No	ClinGen ExAC TOPMed gnomAD
CA401619591 rs1168998995	323	R>P		No	ClinGen TOPMed gnomAD
rs1168998995 CA401619589	323	R>Q		No	ClinGen TOPMed gnomAD
rs1462575245 CA401619609	325	L>S		No	ClinGen gnomAD
CA295241251 rs892223305	328	N>D		No	ClinGen Ensembl
rs1454823972 CA401619654	329	L>R		No	ClinGen gnomAD
rs369989197 CA8861838	331	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA401619680 rs1568163576	332	L>F		No	ClinGen Ensembl
rs1598611535 CA401619687	333	T>P		No	ClinGen Ensembl
CA401619699 rs1293165449	334	Q>*		No	ClinGen TOPMed
CA8861841 rs753641500	334	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8861840 rs200305278	334	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs754923800 CA8861842	335	G>D		No	ClinGen ExAC gnomAD
CA295241261 rs905024253	335	G>S		No	ClinGen Ensembl
CA401619716 rs1325049235	336	Q>*		No	ClinGen gnomAD
rs369221447 CA8861843	336	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752505926 CA8861844	337	S>R		No	ClinGen ExAC
CA8861846 rs80212027	339	Q>K		No	ClinGen ExAC gnomAD
CA8861849 rs781457870	344	L>V		No	ClinGen ExAC gnomAD
rs1598611688 CA401619815	345	T>N		No	ClinGen Ensembl
CA8861853 rs770270338	346	E>K		No	ClinGen ExAC gnomAD
CA8861854 rs776069100	347	D>Y		No	ClinGen ExAC gnomAD
rs139258497 CA401619871	349	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401619869 rs1344767344	349	D>G		No	ClinGen gnomAD
rs771732507 CA8861856	349	D>N		No	ClinGen ExAC TOPMed gnomAD
rs766110323 CA8861859	350	E>D		No	ClinGen ExAC gnomAD
rs201515629 CA8861858	350	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404312014 CA401619883	351	D>A		No	ClinGen TOPMed gnomAD
rs1404312014 CA401619882	351	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	351	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295241376 rs1006194327	352	D>N		No	ClinGen Ensembl
rs1598611847 CA401619890	352	D>V		No	ClinGen Ensembl
rs189185507 RCV000907869 CA8861861	353	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401619901 rs764878349	354	V>F		No	ClinGen ExAC gnomAD
CA8861862 rs764878349	354	V>I		No	ClinGen ExAC gnomAD
rs758289254 COSM355558 CA8861864	356	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401619915 rs1365578511	356	E>G		No	ClinGen TOPMed
rs371384888 CA8861866 CA8861867	357	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs371384888 CA8861865	357	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA401619922 rs1199342892	358	V>L		No	ClinGen TOPMed gnomAD
rs746010487 CA8861870	360	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756514766 CA8861871	360	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780232843 CA8861872	363	E>Q		No	ClinGen ExAC gnomAD
CA401620061 rs1272877059	367	V>F		No	ClinGen gnomAD
rs1164063765 CA401620072	368	G>E		No	ClinGen TOPMed
CA295243122 rs987049340	368	G>R		No	ClinGen TOPMed gnomAD
rs1238851185 CA401620087	370	K>E		No	ClinGen gnomAD
rs183349235 CA295243166	376	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA8861899 rs750174260	377	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767747027 CA8861903 COSM473583	378	W>*	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8861902 rs761562082	378	W>S		No	ClinGen ExAC gnomAD
rs1211333910 CA401620166 COSM437849	380	A>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA401620210 rs1404976208	385	G>R		No	ClinGen gnomAD
CA295245662 rs901666996	386	R>G		No	ClinGen TOPMed gnomAD
CA295245667 rs1009887634	387	M>V		No	ClinGen TOPMed gnomAD
rs1201031947 CA401620234	389	G>S		No	ClinGen gnomAD
rs1383291499 CA401620257	392	P>L		No	ClinGen gnomAD
CA295245674 rs995978899	392	P>S		No	ClinGen TOPMed gnomAD
rs778006753 CA8861932	393	R>G		No	ClinGen ExAC gnomAD
TCGA novel	393	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8861933 rs372635763	394	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1357608820 CA401620274	396	A>T		No	ClinGen TOPMed
CA8861934 rs201046462	396	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401620283 rs1325653408	397	D>G		No	ClinGen TOPMed gnomAD
rs1355596010 CA401620287 COSM437850	398	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA401620303 rs1568170313	400	V>F		No	ClinGen Ensembl
rs1598635404 CA401620306	400	V>G		No	ClinGen Ensembl
CA8861937 rs768185693	401	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401620314 rs1598635448	402	S>A		No	ClinGen Ensembl
rs1423292192 CA401620317	402	S>F		No	ClinGen TOPMed
rs1277961033 CA401620336	405	D>E		No	ClinGen gnomAD
CA401620339 rs1352580456	406	C>R		No	ClinGen gnomAD
CA401620632 rs1369494837	410	Q>*		No	ClinGen gnomAD
CA8861963 rs776938405	410	Q>R		No	ClinGen ExAC gnomAD
rs746095752 CA8861964	412	T>I		No	ClinGen ExAC gnomAD
CA8861966 rs775419756	414	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1466385658 CA401620662	414	K>M		No	ClinGen gnomAD
rs139015738 CA8861974	422	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs930297178 CA295251328	422	A>T		No	ClinGen Ensembl
CA8861973 rs139015738	422	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8861977 rs752121657	425	E>D		No	ClinGen ExAC gnomAD
rs1232692949 CA401620729	425	E>G		No	ClinGen TOPMed
rs1202673718 CA401620751	428	R>K		No	ClinGen gnomAD
CA8861979 rs777526060	428	R>S		No	ClinGen ExAC gnomAD
rs1598665800 CA401620774	430	G>V		No	ClinGen Ensembl
rs201042677 CA8861980	434	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868151172 CA295251356	434	P>L		No	ClinGen Ensembl
CA295251362 rs747895090	434	P>S		No	ClinGen gnomAD
CA401620803 rs747895090	434	P>T		No	ClinGen gnomAD
rs1428485417 CA401620822	436	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368259507 CA8861983	436	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM562732 CA401620842 rs770119863	438	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770119863 CA8861986	438	V>M		No	ClinGen ExAC gnomAD
CA8861987 rs775821768	439	D>E		No	ClinGen ExAC
rs922290850 CA295251394	439	D>Y		No	ClinGen TOPMed
COSM1189633 rs541763206 CA8862527	443	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8862528 rs761436080	445	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8862529 rs761436080	445	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA401619993 rs1435076734	445	L>V		No	ClinGen TOPMed
TCGA novel	446	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401620030 rs1341403012	449	T>S		No	ClinGen gnomAD
CA401620049 rs765108456	450	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs773678901 CA295245165	451	D>N		No	ClinGen TOPMed
CA401620074 rs1261617293	452	E>K		No	ClinGen TOPMed
rs376875000 CA8862539	454	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs572172021 CA8862538	454	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757289175 CA8862540	456	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369436693 CA8862541 COSM4139981	457	C>R	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374149751 COSM437854 CA8862544	459	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	460	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8862545 rs749687858	461	T>N		No	ClinGen ExAC gnomAD
rs376947064 CA8862546	462	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	463	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371619945 CA8862547	463	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs760161414 CA8862548	464	R>K		No	ClinGen ExAC TOPMed gnomAD
CA401620427 rs1599076921	465	D>A		No	ClinGen Ensembl
CA401620434 rs1383756908	466	A>S		No	ClinGen gnomAD
rs1197800410 CA401620456	469	Y>C		No	ClinGen gnomAD
CA8862555 rs372560471 COSM562726	470	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8862554 rs372560471	470	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377049582 CA8862556	473	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA401620498 rs1486251597	475	A>V		No	ClinGen TOPMed
rs1350220621 COSM708544 CA401620501	476	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1206646550 CA401620503	476	R>H	Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1206646550 CA401620504	476	R>P		No	ClinGen TOPMed gnomAD
rs749601557 CA8862563	479	E>D		No	ClinGen ExAC gnomAD
rs780565041 CA8862562	479	E>K		No	ClinGen ExAC gnomAD
CA401620538 rs1599077298	482	E>K		No	ClinGen Ensembl
CA8862564 rs530406016	485	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530406016 CA8862565	485	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776248277 CA8862568	490	I>V		No	ClinGen ExAC TOPMed gnomAD
rs527893726	491	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1345184341 CA401620599	491	S>L		No	ClinGen TOPMed gnomAD
CA401622702 rs1481816792	492	S>R		No	ClinGen gnomAD
CA295260361 rs369830144	493	A>T		No	ClinGen ESP TOPMed gnomAD
rs1252172174 CA401622718	493	A>V		No	ClinGen gnomAD
rs977705282 CA295260363	495	V>L		No	ClinGen TOPMed gnomAD
CA401622768 rs1411985342	497	A>V		No	ClinGen TOPMed gnomAD
CA8862601 rs574660684	498	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1240183227 CA401622792	500	F>L		No	ClinGen TOPMed
rs1599202065 CA401622813	501	D>A		No	ClinGen Ensembl
COSM3403391 CA8862603 rs752953575	502	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8862604 rs758845515	502	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs141525720 CA295260398	503	D>G		No	ClinGen 1000Genomes
TCGA novel	503	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8862605 rs376983324	508	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745503075 CA401622945	509	A>P		No	ClinGen ExAC gnomAD
CA8862606 rs745503075	509	A>T		No	ClinGen ExAC gnomAD
rs759467452	512	A>=	Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA401624925 rs1483806231	512	A>P		No	ClinGen TOPMed
TCGA novel	514	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386128925 CA401624965	515	Q>E		No	ClinGen gnomAD
CA8862638 rs775482671	518	V>L		No	ClinGen ExAC gnomAD
rs1258800991 CA401625048	521	Q>R		No	ClinGen TOPMed
CA401626282 rs1166184250	522	G>D		No	ClinGen gnomAD
CA8862668 rs763954597	522	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1166184250 CA401626278	522	G>V		No	ClinGen gnomAD
CA8862671 rs781009709	525	P>L		No	ClinGen ExAC gnomAD
CA8862670 rs757199429	525	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756308366 CA8862673	530	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1384200926 CA401626421	534	A>T		No	ClinGen gnomAD
rs1032997408 CA295267772	536	Y>C		No	ClinGen TOPMed
rs1599299460 CA401626475	538	A>T		No	ClinGen Ensembl
rs774626621 CA401626500	540	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774626621 CA8862677 COSM986194	540	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA401626527 rs1255699497	542	R>T		No	ClinGen gnomAD
rs1567975474 CA401626560	544	N>K		No	ClinGen Ensembl
CA295267806 rs981956963	544	N>S		No	ClinGen TOPMed gnomAD
rs1186537174 CA401626599	547	L>P		No	ClinGen gnomAD
CA401626627 rs1449581102	550	S>G		No	ClinGen gnomAD
CA295267809 rs933127849	550	S>T		No	ClinGen Ensembl
rs762572482 CA8862705	552	F>L		No	ClinGen ExAC gnomAD
CA295272044 rs758000162	555	G>S		No	ClinGen Ensembl
rs1434799252 CA401628081	555	G>V		No	ClinGen TOPMed
rs773861220 CA8862707	558	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761241400 CA8862708	559	Y>F		No	ClinGen ExAC
rs372480807 CA8862709	560	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599370756 CA401628138	560	T>P		No	ClinGen Ensembl
rs1250694288 CA401628168	562	P>L		No	ClinGen gnomAD
TCGA novel	563	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395649309 CA401628189	564	I>V		No	ClinGen gnomAD
CA295272059 rs766250243	565	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8862711 rs556195168	565	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs145180850 CA8862714	567	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs962304076 CA295272086	570	M>K		No	ClinGen TOPMed
rs752766109 CA401628268	570	M>L		No	ClinGen ExAC gnomAD
rs752766109 CA8862716	570	M>V		No	ClinGen ExAC gnomAD
rs758413695 CA401628288	571	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1344519312 CA401628309	572	I>M		No	ClinGen TOPMed
rs777977111 CA8862718	572	I>T		No	ClinGen ExAC gnomAD
rs1459567747 CA401628297	572	I>V		No	ClinGen gnomAD
rs541812308 CA8862719	573	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs771477529 CA8862720	574	H>Y		No	ClinGen ExAC gnomAD
rs1395206096 CA401628410	577	G>E		No	ClinGen gnomAD
rs781496274 CA8862721	577	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1247926834 CA401629888	578	V>I		No	ClinGen gnomAD
rs761639016 CA295277507	579	I>T		No	ClinGen Ensembl
CA8862744 rs770137069	580	R>*		No	ClinGen ExAC gnomAD
RCV000440754 rs780523169 CA8862745	580	R>Q		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1448430753 CA401629943	581	E>Q		No	ClinGen TOPMed
rs747729228 CA8862746	584	A>V		No	ClinGen ExAC TOPMed gnomAD
rs915544729 CA295277512	585	R>K		No	ClinGen TOPMed
rs770937552 CA8862750	588	H>R		No	ClinGen ExAC gnomAD
rs776716963 CA8862751	589	N>K		No	ClinGen ExAC gnomAD
rs1319849132 CA401630102	589	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1436714253 CA401630149	592	Q>R		No	ClinGen gnomAD
rs1270211817 CA401630201	594	A>S		No	ClinGen gnomAD
CA8862753 rs764929196	596	E>K		No	ClinGen ExAC TOPMed gnomAD
rs973320649 CA295277538	597	F>I		No	ClinGen Ensembl
rs377718092 CA8862755	599	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047593267 CA295277548	600	T>M		No	ClinGen gnomAD
CA8862791 rs749249997	604	P>L		No	ClinGen ExAC gnomAD
rs575721383 CA8862789	604	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8862790 rs575721383	604	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8862793 rs774177848	607	L>P		No	ClinGen ExAC gnomAD
CA8862795 rs372610438	609	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8862794 rs761990282	609	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1227722857 CA401631087	611	L>V		No	ClinGen gnomAD
CA401631097 rs1376777361	612	S>C		No	ClinGen TOPMed
rs1249900680 CA401631101	612	S>N		No	ClinGen gnomAD
CA8862797 rs760825079	613	P>S		No	ClinGen ExAC gnomAD
CA8862798 rs201871480	614	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1277603084 CA401631134	615	L>I		No	ClinGen gnomAD
CA8862801 rs765676190	617	M>I		No	ClinGen ExAC TOPMed gnomAD
rs2292971 CA8862800 VAR_057264	617	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs982167851 CA295278750	620	G>E		No	ClinGen Ensembl
CA295278751 rs201176158	621	S>*		No	ClinGen gnomAD
CA401631213 rs201176158	621	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1260787757 CA401631216	622	I>S		No	ClinGen gnomAD
rs199609098 CA8862804	622	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8862806 rs755644968	624	A>T		No	ClinGen ExAC gnomAD
rs1014416756 CA295278758	625	C>Y		No	ClinGen TOPMed gnomAD
CA8862808 rs749225304	626	A>S		No	ClinGen ExAC TOPMed gnomAD
rs984046914 CA295278766	629	A>V		No	ClinGen Ensembl
rs1293440048 CA401631271	631	A>S		No	ClinGen gnomAD
rs1293440048 CA401631269	631	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401631305 rs1274462216	636	A>S		No	ClinGen TOPMed gnomAD
CA8862812 rs772227859	636	A>V		No	ClinGen ExAC gnomAD
CA401631309 rs1205323200	637	A>T		No	ClinGen gnomAD
CA8862813 rs539457901	638	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401631329 rs760875110	639	E>D		No	ClinGen ExAC gnomAD
CA401631326 rs1464338442	639	E>G		No	ClinGen gnomAD
rs771033061	640	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs745967642 CA8862835	641	R>S		No	ClinGen ExAC gnomAD
rs1162673347 CA401631361	642	P>L		No	ClinGen gnomAD
CA401631358 rs1454422819	642	P>S		No	ClinGen gnomAD
rs199679092 CA8862837	643	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368254454 CA8862838	644	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401631405 rs1288908162	649	E>A		No	ClinGen gnomAD
rs760331502 CA8862842 COSM1387542	649	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA295279716 rs1048133990	650	Q>E		No	ClinGen TOPMed
TCGA novel	651	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8862843 rs765967182	652	V>L		No	ClinGen ExAC
rs907774680 CA295279723	653	Q>H		No	ClinGen TOPMed gnomAD
rs1417011439 CA775838292	656	K>S		No	ClinGen TOPMed
CA295279725 rs868043755	657	Q>H		No	ClinGen Ensembl
rs1361179113 CA401631505	659	H>R		No	ClinGen gnomAD
rs1019781266 CA295279730	660	Q>*		No	ClinGen gnomAD
rs753327888 CA8862844	660	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA401631644 rs1284143195	662	L>F		No	ClinGen gnomAD
CA8862865 rs368782592 COSM273616	665	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8862866 rs371761720	665	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368782592 CA401631686	665	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA295280402 rs978785596	666	Q>*		No	ClinGen Ensembl
CA8862867 rs752247399	667	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1157970091 CA401631734	669	R>G		No	ClinGen gnomAD
rs772313999 CA8862880	672	G>R		No	ClinGen ExAC gnomAD
rs769468107 CA8862883	674	Q>*		No	ClinGen ExAC gnomAD
CA401632607 rs1194891788	680	V>G		No	ClinGen gnomAD
rs1179260365 CA401632613	681	C>F		No	ClinGen gnomAD
CA401632609 rs1479649195	681	C>G		No	ClinGen gnomAD
CA295292846 rs182370230	682	V>F		No	ClinGen gnomAD
rs182370230 CA401632616	682	V>I		No	ClinGen gnomAD
TCGA novel	682	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401632627 rs1387455625	683	L>F		No	ClinGen gnomAD
CA401632630 rs1599563498	684	I>L		No	ClinGen Ensembl
rs1568044300 TCGA novel CA913190545 RCV000762221	685	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl dbSNP NCI-TCGA
CA295292850 rs1054991524	685	E>K		No	ClinGen Ensembl
CA401632673 rs1343449596	690	S>C		No	ClinGen gnomAD
rs201988307 CA8862932	691	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA401632707 rs1335041257	695	R>K		No	ClinGen gnomAD
CA401632716 rs1284474521	696	G>V		No	ClinGen gnomAD
rs1286740611 CA401632735	699	V>A		No	ClinGen TOPMed
COSM986196 CA8862934 rs368050308	699	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8862935 rs760748975	700	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1209929868 CA401632744	701	D>H		No	ClinGen gnomAD
rs754528442 CA8862949	702	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs372379384 CA295293741	704	Q>R		No	ClinGen ESP TOPMed gnomAD
rs1472771732 CA401632809	708	N>S		No	ClinGen TOPMed gnomAD
CA401632818 rs1244598912	709	D>E		No	ClinGen TOPMed gnomAD
rs772908058 CA295293751	709	D>Y		No	ClinGen Ensembl
rs1312478686 CA401632824	710	T>S		No	ClinGen TOPMed gnomAD
CA8862951 rs200903034	713	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA401632854 rs1299913741	715	H>Y		No	ClinGen TOPMed
CA401632862 rs1240564326	716	L>F		No	ClinGen gnomAD
CA401632882 rs1183005673	719	S>G		No	ClinGen gnomAD
rs1599571837 CA401632891	720	H>P		No	ClinGen Ensembl
TCGA novel	720	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8862956 rs548213550	722	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8862957 rs759389497 COSM273569	722	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759389497 CA401632904	722	R>L		No	ClinGen ExAC gnomAD
rs548213550 CA8862955	722	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765309932 CA8862958	723	Q>R		No	ClinGen ExAC gnomAD
CA401632953 rs1197265622	727	D>V		No	ClinGen TOPMed gnomAD
rs575904606 CA295295613	728	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA8862986 rs370377063	731	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8862987 rs754287863	733	L>M		No	ClinGen ExAC gnomAD
CA295295628 rs865957812	734	A>D		No	ClinGen Ensembl
rs1404719840 CA401632998	735	A>V		No	ClinGen gnomAD
rs1281999052 CA401633000	736	L>V		No	ClinGen gnomAD
CA295295641 rs187738824	737	C>F		No	ClinGen Ensembl
rs777586006 CA401633011	738	S>G		No	ClinGen ExAC TOPMed gnomAD
rs777586006 CA8862989	738	S>R		No	ClinGen ExAC TOPMed gnomAD
rs543329891 CA8862990	739	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1240827256 CA401633019	739	E>Q		No	ClinGen TOPMed
CA401633088 rs1287005150	742	M>T		No	ClinGen gnomAD
rs780626975 CA8862992	742	M>V		No	ClinGen ExAC gnomAD
rs1490141493 CA401633128	744	E>D		No	ClinGen gnomAD
rs193159546 CA8862993	745	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	745	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs193159546 CA401633136	745	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8862995 rs377517399	746	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8862996 rs749093541	746	G>V		No	ClinGen ExAC
CA295295694 rs377517399	746	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA401633148 rs34791072	747	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372679788 CA8862998	748	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401633184 rs749237672	749	D>E		No	ClinGen TOPMed
rs1440966994 CA401633172	749	D>N		No	ClinGen gnomAD
CA401633188 rs1337403280	750	P>T		No	ClinGen TOPMed
CA8863000 COSM1228641 rs772167347	751	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1424440817 CA401633213	752	I>V		No	ClinGen gnomAD
CA295296810 rs867894238	754	E>D		No	ClinGen Ensembl
rs1449093177 CA401633257	755	E>A		No	ClinGen gnomAD
CA401633263 rs1211207561	756	L>V		No	ClinGen TOPMed
rs1265016412 CA401633268	757	I>V		No	ClinGen gnomAD
rs1382341570 CA401633275	758	T>A		No	ClinGen gnomAD
rs1286145290 CA401633280	759	Q>E		No	ClinGen gnomAD
rs1286145290 CA401633279	759	Q>K		No	ClinGen gnomAD
CA8863013 rs749289741	759	Q>R		No	ClinGen ExAC gnomAD
CA295296835 rs957285007	762	A>G		No	ClinGen TOPMed
rs748368158 CA8863016	765	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs547091970 CA8863015	765	R>W		No	ClinGen ExAC TOPMed gnomAD
CA401633359 rs1247310580	767	P>L		No	ClinGen gnomAD
TCGA novel	767	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	768	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773297162 CA8863018	768	E>G		No	ClinGen ExAC TOPMed gnomAD
rs948837196 CA295296865	768	E>K		No	ClinGen TOPMed gnomAD
rs1473338232 CA401633386	769	E>V		No	ClinGen gnomAD
CA401633398 rs1167633823	770	M>V		No	ClinGen gnomAD
CA401633414 rs1422145574	771	T>A		No	ClinGen TOPMed gnomAD
CA401633435 rs1405494641	772	R>L		No	ClinGen gnomAD
CA401633443 rs1336464142	773	C>Y		No	ClinGen gnomAD
rs1341238774 CA401633464	774	G>V		No	ClinGen gnomAD
CA295296913 rs866388240	781	A>D		No	ClinGen Ensembl
rs765676218 CA8863023	781	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1278894404 CA401633583	784	G>D		No	ClinGen TOPMed gnomAD
CA401633617 rs1254622271	787	L>M		No	ClinGen TOPMed
CA295296916 rs753415681	789	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs761476887 CA8863026	790	R>L		No	ClinGen ExAC gnomAD
rs761476887 CA8863025	790	R>Q		No	ClinGen ExAC gnomAD
CA8863024 rs200557085	790	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401633661 rs1260113269	791	L>F		No	ClinGen TOPMed
CA401633673 rs1568057885	792	Q>*		No	ClinGen Ensembl
CA295296945 rs761385056	793	Q>K		No	ClinGen Ensembl
CA401633799 rs1369813477	794	V>A		No	ClinGen gnomAD
COSM1228640 CA295298241 rs996140147	794	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs763230182 CA8863042	795	L>V		No	ClinGen ExAC gnomAD
rs1334730678 CA401633809	796	T>I		No	ClinGen gnomAD
rs769131046 CA8863043	798	L>*		No	ClinGen ExAC gnomAD
rs1166096282 CA401633836	800	A>V		No	ClinGen gnomAD
rs1355858180 CA401633837	801	V>I		No	ClinGen TOPMed
rs1163912954 CA401633851	803	H>Y		No	ClinGen Ensembl
CA401633862 rs1568062830	804	T>I		No	ClinGen Ensembl
CA8863044 rs772726109	806	P>A		No	ClinGen ExAC TOPMed gnomAD
CA401633870 rs772726109	806	P>S		No	ClinGen ExAC TOPMed gnomAD
rs199644299 CA8863047	807	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8863049 rs534429525	809	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8863051 rs758127032	812	A>V		No	ClinGen ExAC gnomAD
CA8863053 rs751710020	815	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8863056 rs199984036	818	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199984036 CA8863055	818	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770355151 CA8863057	821	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8863058 rs780416845	822	I>T		No	ClinGen ExAC gnomAD
rs774817806	823	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749860401 CA8863060	823	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749860401 COSM986200 CA8863059	823	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1484337437 CA401634014	826	C>F		No	ClinGen gnomAD
rs767474574 CA8863092	827	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA401634024 rs1465658987	827	Q>H		No	ClinGen gnomAD
rs1424176453 CA401634038	830	G>S		No	ClinGen gnomAD
CA295299026 rs767312384	831	V>L		No	ClinGen gnomAD
TCGA novel	833	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295299031 rs894449778	837	D>H		No	ClinGen TOPMed gnomAD
rs755381482 CA8863097	838	E>K		No	ClinGen ExAC gnomAD
rs748722419 CA8863099	839	A>G		No	ClinGen ExAC gnomAD
rs779481476 CA8863098	839	A>T		No	ClinGen ExAC gnomAD
CA295299048 rs182107545	840	V>M		No	ClinGen 1000Genomes
CA8863102 CA8863101 rs375752538	842	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748846617 CA8863105	843	E>D		No	ClinGen ExAC gnomAD
rs774817902 CA8863104	843	E>G		No	ClinGen ExAC TOPMed gnomAD
rs769521593 CA401634116	843	E>K		No	ClinGen ExAC gnomAD
rs769521593 CA8863103	843	E>Q		No	ClinGen ExAC gnomAD
CA401634129 rs1285577474	845	V>I		No	ClinGen gnomAD
CA401634150 rs1487191776	848	I>V		No	ClinGen gnomAD
CA401634165 rs1218431713	850	C>R		No	ClinGen gnomAD
CA8863106 rs189096321	850	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8863107 rs774414076	851	A>V		No	ClinGen ExAC gnomAD
TCGA novel	854	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401634191 rs1433258753	854	G>V		No	ClinGen TOPMed gnomAD
CA401634193 rs1378038149	855	C>G		No	ClinGen gnomAD
CA401634192 rs1378038149	855	C>R		No	ClinGen gnomAD
TCGA novel	856	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8863113 rs753791614	858	D>E		No	ClinGen ExAC gnomAD
RCV001048414 rs766636782 CA8863112	858	D>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA295299099 rs201245699	859	Y>C		No	ClinGen 1000Genomes
CA295299104 rs1007785642	860	T>A		No	ClinGen TOPMed
rs1369909567 CA401634232	860	T>S		No	ClinGen gnomAD
CA8863115 rs370658754 COSM1387543	861	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370658754 CA8863116	861	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs11550064 CA295299112	864	R>I		No	ClinGen Ensembl
rs1242076150 CA401634263	865	G>E		No	ClinGen gnomAD
rs778076124 CA8863118	866	D>N		No	ClinGen ExAC gnomAD
CA295299132 rs745652302	867	V>A		No	ClinGen Ensembl
CA8863120 rs755667871	867	V>M		No	ClinGen ExAC TOPMed gnomAD
rs972563450 CA295299935	872	R>C		No	ClinGen TOPMed gnomAD
rs972563450 CA401634317	872	R>G		No	ClinGen TOPMed gnomAD
CA8863161 rs778711320	872	R>H		No	ClinGen ExAC gnomAD
CA8863163 rs757970770	873	K>E		No	ClinGen ExAC gnomAD
rs777199364 CA8863164	873	K>R		No	ClinGen ExAC gnomAD
CA401634333 rs1336369381	875	A>S		No	ClinGen TOPMed gnomAD
CA401634332 rs1336369381	875	A>T	Variant assessed as Somatic; 0.0001885 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8863167 rs780995488	876	M>I		No	ClinGen ExAC gnomAD
CA8863166 rs757174598	876	M>T		No	ClinGen ExAC gnomAD
rs745667667 CA8863168	877	T>S		No	ClinGen ExAC gnomAD
rs1233833575 CA401634346	877	T>S		No	ClinGen gnomAD
rs543770055 CA8863169	878	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8863170 rs775688321	879	L>V		No	ClinGen ExAC gnomAD
CA8863171 rs199972447	880	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401634375 rs1201886949	881	D>E		No	ClinGen gnomAD
CA8863172 rs768689044	881	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1278874128 CA401634376	882	L>M		No	ClinGen gnomAD
rs202134464 CA8863173	884	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs985138639 CA295299963	886	L>V		No	ClinGen Ensembl
CA401634402 rs1261694214	887	A>T		No	ClinGen gnomAD
CA401634406 rs1226057507	887	A>V		No	ClinGen TOPMed
rs761114963 CA8863178	888	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761114963 CA8863177	888	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8863175 rs767921790	888	R>W		No	ClinGen ExAC TOPMed gnomAD
rs752376573 CA8863179	889	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758167016 CA401634423	890	Q>H		No	ClinGen ExAC gnomAD
rs763620900 CA8863181	891	P>T		No	ClinGen ExAC gnomAD
rs751053770 CA8863182	893	L>V		No	ClinGen ExAC gnomAD
rs781001003 CA8863184	895	E>K		No	ClinGen ExAC gnomAD
rs1301891763 CA401634452	895	E>V		No	ClinGen TOPMed
rs1322803482 CA401634459	896	A>G		No	ClinGen TOPMed gnomAD
rs990241186 CA295300025	896	A>T		No	ClinGen gnomAD
CA401634457 rs1322803482	896	A>V		No	ClinGen TOPMed gnomAD
CA8863186 rs375374940	898	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375374940 CA295300032	898	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs778041055 CA8863213 COSM986202	901	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1312399549 CA401634502	901	R>H		No	ClinGen gnomAD
rs778041055 CA401634500	901	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1335647744 CA401634505	902	I>L		No	ClinGen TOPMed
rs1335647744 CA401634506	902	I>V		No	ClinGen TOPMed
CA8863215 rs771587703	903	M>I		No	ClinGen ExAC gnomAD
rs934503914 CA295301077	903	M>V		No	ClinGen TOPMed
CA295301088 rs968708253	905	C>R		No	ClinGen Ensembl
CA295301089 rs977637915	906	V>M		No	ClinGen Ensembl
rs199509385 CA8863217	907	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770264615 CA8863218	908	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	909	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401634555 rs1253330383	909	Q>R		No	ClinGen gnomAD
CA401634593 rs1481053701	914	I>T		No	ClinGen gnomAD
CA401634600 rs1200068794	915	D>G		No	ClinGen gnomAD
CA8863220 rs761578299	916	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8863222 rs766894924	916	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766894924 CA8863221	916	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1422765982 CA401634617	918	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA295301107 rs760545140	918	R>H		No	ClinGen ExAC gnomAD
CA8863223 rs760545140	918	R>L		No	ClinGen ExAC gnomAD
CA401634619 rs1172147337	919	A>T		No	ClinGen gnomAD
CA401634624 rs1354779838	919	A>V		No	ClinGen TOPMed gnomAD
CA8863224 rs766308186	920	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs752832801 CA8863228	922	A>V		No	ClinGen ExAC TOPMed gnomAD
rs3214033 CA8863229 VAR_057265	923	S>N		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8863231 rs374323372	924	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA401634654 rs1308121286	925	F>L		No	ClinGen gnomAD
CA401634659 rs1407041601	925	F>L		No	ClinGen Ensembl
rs377731369 CA8863232	925	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370298242 CA8863233	927	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746447078 CA8863234	928	L>H		No	ClinGen ExAC gnomAD
rs1487242278 CA401634716	934	P>L		No	ClinGen gnomAD
rs771721082 CA8863238	935	P>R		No	ClinGen ExAC gnomAD
CA8863237 rs761320958	935	P>S		No	ClinGen ExAC gnomAD
CA401634734 rs772639597	938	H>D		No	ClinGen ExAC TOPMed gnomAD
CA8863239 rs772639597	938	H>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	938	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401634733 rs772639597	938	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs368003256 CA8863241	939	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8863242 rs753751532	941	H>Y		No	ClinGen ExAC
COSM265426 rs759557110 CA8863243	942	R>*	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1056577423 CA295301235	942	R>Q		No	ClinGen TOPMed gnomAD
CA401634764 rs8072406	943	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000964020 VAR_057266 rs8072406 CA8863244	943	G>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752561485 CA8863245	946	E>K		No	ClinGen ExAC gnomAD
CA8863248 rs764417557	949	F>L		No	ClinGen ExAC TOPMed gnomAD
rs757402099 CA8863249	950	P>L		No	ClinGen ExAC gnomAD
CA401634839 rs1295047649	953	D>G		No	ClinGen gnomAD
rs762065623 CA8863286	953	D>N		No	ClinGen ExAC TOPMed gnomAD
CA401634845 rs1197393364	954	V>M		No	ClinGen gnomAD
CA8863288 rs376859570	955	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8863289 COSM1720647 rs567316358	956	S>F	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA401634863 rs1307531655	957	V>A		No	ClinGen TOPMed
rs1466348816 CA401634878	959	W>*		No	ClinGen gnomAD
rs369416847 CA295301434	959	W>R		No	ClinGen ESP gnomAD
CA401634889 rs1420582697	961	A>T		No	ClinGen gnomAD
rs1475591237 CA401634894	961	A>V		No	ClinGen gnomAD
rs755509549 CA8863292	962	P>T		No	ClinGen ExAC TOPMed gnomAD
CA401634903 rs1360346084	963	S>Y		No	ClinGen TOPMed
rs929079179 CA295301454	964	Q>H		No	ClinGen Ensembl
CA401634913 rs779200856	965	A>P		No	ClinGen ExAC gnomAD
rs779200856 CA8863293	965	A>T		No	ClinGen ExAC gnomAD
rs1329777087 CA401634916	965	A>V		No	ClinGen gnomAD
CA401634924 rs1358431213	966	F>L		No	ClinGen gnomAD
rs1277885303 CA401634927	967	P>A		No	ClinGen TOPMed
CA295301478 rs926584346	967	P>R		No	ClinGen TOPMed
RCV000885689 rs181489692 CA8863294	968	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs374267988 CA8863295	968	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1267938540 CA401634953	971	Q>H		No	ClinGen gnomAD
CA8863296 rs780895194	971	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs769933604 CA295301512	974	G>R		No	ClinGen TOPMed gnomAD
CA8863300 rs779473967	977	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8863299 rs779473967	977	T>P		No	ClinGen ExAC TOPMed gnomAD
CA8863301 rs768723646	979	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774219082 CA8863302	979	R>H		No	ClinGen ExAC gnomAD
CA8863303 rs761693555	980	Y>H		No	ClinGen ExAC gnomAD
rs760846090 CA8863306	982	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401635031 rs1234073068	985	G>R		No	ClinGen TOPMed
CA295301562 rs749368627	986	L>P		No	ClinGen Ensembl
rs1021690085 CA295301568	988	V>L		No	ClinGen TOPMed
CA401635045 rs1021690085	988	V>M		No	ClinGen TOPMed
CA401635055 rs1432652024	989	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1316112591 CA401635067	992	G>S		No	ClinGen TOPMed gnomAD
CA295301610 rs960069159	996	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8863314 rs750061418	997	T>M		No	ClinGen ExAC gnomAD
CA8863359 rs747027727	998	I>M		No	ClinGen ExAC TOPMed gnomAD
rs777568715 CA8863358	998	I>S		No	ClinGen ExAC TOPMed gnomAD
CA295302611 rs898966357	998	I>V		No	ClinGen TOPMed
CA401635119 rs781008283	999	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8863362 rs746054218	999	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8863361 rs781008283	999	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8863363 rs530378018	1000	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA401635140 rs1417229963	1002	T>I		No	ClinGen gnomAD
CA401635139 rs1417229963	1002	T>S		No	ClinGen gnomAD
rs368569864 CA8863365	1003	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1003	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401635144 rs1380543165	1003	Q>R		No	ClinGen gnomAD
CA401635169 rs1274672880	1006	F>L		No	ClinGen gnomAD
CA8863367 rs141474186	1007	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401635173 rs141474186	1007	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA295302649 rs932251445	1008	Y>C		No	ClinGen Ensembl
rs762419900 CA8863368	1009	M>V		No	ClinGen ExAC TOPMed gnomAD
rs772524048 CA8863369	1010	K>R		No	ClinGen ExAC TOPMed gnomAD
rs772524048 CA401635195	1010	K>T		No	ClinGen ExAC TOPMed gnomAD
CA401635205 rs1260004785	1012	I>V		No	ClinGen gnomAD
rs375899767 CA401635228	1015	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375899767 CA8863373	1015	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8863372 rs375899767	1015	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA401635235 rs1453475578	1016	P>A		No	ClinGen gnomAD
rs534421330 CA8863374	1016	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751423345 CA8863376	1017	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	1018	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8863378 rs780918623	1022	F>L		No	ClinGen ExAC gnomAD
CA295302756 rs1013268942	1024	G>R		No	ClinGen TOPMed gnomAD
CA401635292 rs1440514693	1025	T>A		No	ClinGen gnomAD
CA401635339 rs1234675576	1032	D>N		No	ClinGen TOPMed gnomAD
rs1324047380 CA401635343	1032	D>V		No	ClinGen Ensembl
CA8863385 rs748615072	1033	N>K		No	ClinGen ExAC TOPMed gnomAD
rs537563250 CA8863384	1033	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8863383 rs768584060	1033	N>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1037	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401635411 rs767059052 CA8863413	1041	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8863414 rs767059052	1041	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1426238058 CA401635440	1046	T>A		No	ClinGen TOPMed
COSM1288366 rs541191622 CA8863417	1046	T>M	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
RCV001091549 rs2062306727	1049	H>missing		No	ClinVar dbSNP
TCGA novel	1049	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401635466 rs1270364295	1050	V>E		No	ClinGen gnomAD
CA8863419 rs768705760	1050	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1051	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401635473 rs1306136552	1051	L>P		No	ClinGen gnomAD
rs778040959 CA8863422	1054	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1259783339 CA401635492	1054	G>D		No	ClinGen gnomAD
COSM986205 rs778040959 CA8863423	1054	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1473131223 CA401635497	1055	C>S		No	ClinGen TOPMed gnomAD
CA8863424 rs757808218	1056	F>L		No	ClinGen ExAC gnomAD
rs746252497 CA8863426	1057	D>H		No	ClinGen ExAC gnomAD
rs746252497 CA8863427	1057	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8863429 rs747834755	1058	I>V		No	ClinGen ExAC gnomAD
rs577616532 CA8863430	1061	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA8863436 rs776499062	1064	D>G		No	ClinGen ExAC gnomAD
rs766342811 CA8863435	1064	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1195217826 CA401635586	1066	P>R		No	ClinGen gnomAD
CA401635600 rs1238729520	1068	A>G		No	ClinGen TOPMed
CA401635598 rs1469606569	1068	A>T		No	ClinGen gnomAD
CA8863463 rs767547153	1069	V>M		No	ClinGen ExAC gnomAD
COSM986207 rs780333606 CA8863466	1073	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1384703578 CA401635646	1075	C>W		No	ClinGen TOPMed
CA295282952 rs939610383	1076	K>E		No	ClinGen Ensembl
TCGA novel	1076	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401635654 rs777399611	1077	K>E		No	ClinGen ExAC TOPMed gnomAD
rs777399611 CA8863469	1077	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568097466	1078	E>*		No	Ensembl
rs1055297447 COSM986208 CA295282974	1078	E>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA401635664 rs1475992078	1078	E>G		No	ClinGen gnomAD
rs1302855516 CA401635672	1079	I>T		No	ClinGen TOPMed
rs1420873879 CA401635687	1081	N>S		No	ClinGen TOPMed
TCGA novel	1084	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530848602 CA8863472	1084	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs370829071 CA8863474	1085	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8863475 rs769857214	1086	Q>*		No	ClinGen ExAC gnomAD
rs775364866 CA8863476	1087	K>E		No	ClinGen ExAC gnomAD
CA8863477 COSM364434 rs762824588	1090	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8863479 rs143784778 RCV000896860	1092	I>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1472653302 CA401635756	1092	I>V		No	ClinGen gnomAD
rs767597705 CA8863481 COSM437856	1093	A>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA401635767 rs1489243224	1094	V>A		No	ClinGen TOPMed
rs750477411 CA8863482	1094	V>M		No	ClinGen ExAC TOPMed gnomAD
CA295283885 rs12450314	1095	F>L		No	ClinGen Ensembl
rs780202280 CA8863561	1096	C>F		No	ClinGen ExAC gnomAD
CA401636037 rs376721612	1096	C>W		No	ClinGen ESP TOPMed gnomAD
rs3785522 CA401636040	1097	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8863563 rs3785522	1097	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749694857 CA8863562	1097	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401636041 rs3785522	1097	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401636069 rs1347970204	1101	F>L		No	ClinGen gnomAD
CA401636073 rs1203890938	1101	F>L		No	ClinGen TOPMed gnomAD
rs1378473174 CA401636076	1102	P>A		No	ClinGen TOPMed
CA8863564 rs775057996	1102	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8863569 CA8863570 rs200708068	1104	D>E		No	ClinGen ExAC TOPMed gnomAD
rs372479408 CA8863568	1104	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401636086 rs372479408	1104	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401636104 rs995738015	1107	R>K		No	ClinGen gnomAD
CA295284020 rs995738015	1107	R>T		No	ClinGen gnomAD
CA8863573 rs751563583	1109	A>V		No	ClinGen ExAC gnomAD
CA8863575 rs767347084	1112	Q>H		No	ClinGen ExAC gnomAD
rs1599721031 CA401636149	1114	C>F		No	ClinGen Ensembl
rs1239264298 CA401636159	1116	L>F		No	ClinGen gnomAD
rs1388100327 CA401636180	1119	H>P		No	ClinGen gnomAD
rs1388100327 CA401636181	1119	H>R		No	ClinGen gnomAD
CA8863578 rs533459814	1120	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749377554 CA8863579	1120	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754043602 CA8863617	1125	R>Q		No	ClinGen ExAC gnomAD
CA295285604 rs1027222936	1125	R>W		No	ClinGen TOPMed gnomAD
CA401636607 rs1599734789	1126	K>N		No	ClinGen Ensembl
CA401636614 rs1385408684	1127	T>N		No	ClinGen gnomAD
rs1326153990 CA401636620	1128	T>M		No	ClinGen gnomAD
rs765341711 CA8863619	1130	S>N		No	ClinGen ExAC gnomAD
rs765341711 CA401636631	1130	S>T		No	ClinGen ExAC gnomAD
CA401636642 rs1555672174	1132	V>M		No	ClinGen Ensembl
rs192624334 CA295285617	1133	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778338967 CA8863623	1134	E>Q		No	ClinGen ExAC
rs752045662 CA8863624	1137	L>V		No	ClinGen ExAC gnomAD
rs1004786689 CA295285638	1138	T>N		No	ClinGen Ensembl
rs1156739534 CA401636694	1140	S>G		No	ClinGen TOPMed
rs1456477926 CA401636696	1140	S>N		No	ClinGen TOPMed
rs1290288115 CA401636707	1141	D>E		No	ClinGen gnomAD
CA8863625 rs757618357	1142	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1253351182 CA401636714	1143	V>L		No	ClinGen TOPMed gnomAD
CA401636716 rs1253351182	1143	V>M		No	ClinGen TOPMed gnomAD
CA8863627 rs748897905	1144	G>D		No	ClinGen ExAC TOPMed gnomAD
rs747657263 CA401636727	1145	A>E		No	ClinGen ExAC TOPMed gnomAD
rs778597687 CA8863629	1145	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8863630 rs747657263	1145	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401636733 rs1391886799	1146	D>G		No	ClinGen gnomAD
CA401636755 rs183455339	1149	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401636756 rs1394714125	1150	E>K		No	ClinGen TOPMed gnomAD
CA8863633 rs570910494	1151	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770722219 CA8863634	1153	T>I		No	ClinGen ExAC gnomAD
CA8863635 rs776572359	1154	V>M		No	ClinGen ExAC
CA8863636 rs759776213	1155	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8863637 rs375065191	1159	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401636817 rs1568106593 COSM365931	1160	W>R	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs752306725 CA8863670	1161	D>G		No	ClinGen ExAC TOPMed gnomAD
rs777282071 CA8863672	1162	A>T		No	ClinGen ExAC TOPMed gnomAD
rs372662619 CA8863673	1162	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA295287743 rs923773324	1164	L>F		No	ClinGen TOPMed gnomAD
CA401636862 rs1326695955	1165	A>T		No	ClinGen gnomAD
rs369383204 CA8863675	1165	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs373569797 CA8863676	1168	R>*		No	ClinGen ESP ExAC gnomAD
CA295287754 rs376595024	1169	E>A		No	ClinGen Ensembl
CA8863677 rs555409758	1169	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA401636898 rs1568114230	1170	Q>H		No	ClinGen Ensembl
CA8863680 rs775453008	1171	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8863681 rs376677304	1173	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000893316 rs188081246 CA8863682	1173	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401636938 rs1161554283	1177	L>F		No	ClinGen gnomAD
rs773665099 CA8863685	1181	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1291743892 CA401636960	1181	P>S		No	ClinGen gnomAD
rs980537121 CA295287788	1182	R>S		No	ClinGen TOPMed
CA8863686 rs761205495	1183	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8863688 COSM1189634 rs754168355	1184	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401636976 rs1229868698	1184	Q>P		No	ClinGen gnomAD
rs2292969 CA8863689 RCV000881061 VAR_057267	1185	L>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs527306723 CA295287802	1185	L>V		No	ClinGen Ensembl
CA401636991 rs1264029414	1187	P>A		No	ClinGen TOPMed gnomAD
rs1264029414 CA401636990	1187	P>T		No	ClinGen TOPMed gnomAD
CA8863691 rs780053410	1188	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA401637001 rs1251182398	1188	Q>H		No	ClinGen gnomAD
CA8863719 rs368769893	1189	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162058241 CA401637024	1190	G>D		No	ClinGen TOPMed
TCGA novel	1190	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q9BTW9

[MIM: 617193]: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT)

An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. {ECO:0000269|PubMed:27666370, ECO:0000269|PubMed:27666374, ECO:0000269|PubMed:27807845, ECO:0000269|PubMed:28158450}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. {ECO:0000269|PubMed:27666370, ECO:0000269|PubMed:27666374, ECO:0000269|PubMed:27807845, ECO:0000269|PubMed:28158450}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9BTW9

Type	Name	Position	InterPro Accession
domain	Tubulin-specific chaperone D, C-terminal	901 - 1087	IPR022577

Functions

		Description
EC Number
Subcellular Localization	Cell junction, tight junction Lateral cell membrane Cytoplasm Cell junction, adherens junction Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Localized in cell-cell contacts
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

3 GO annotations of molecular function

Name	Definition
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
chaperone binding	Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

10 GO annotations of biological process

Name	Definition
adherens junction assembly	The aggregation, arrangement and bonding together of a set of components to form an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.
bicellular tight junction assembly	The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet.
cell morphogenesis involved in neuron differentiation	The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
negative regulation of cell-substrate adhesion	Any process that decreases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.
negative regulation of microtubule polymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization.
post-chaperonin tubulin folding pathway	Completion of folding of alpha- and beta-tubulin; takes place subsequent to chaperonin-mediated partial folding; mediated by a complex of folding cofactors.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
tubulin complex assembly	The aggregation and bonding together of alpha- and beta-tubulin to form a tubulin heterodimer.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MALSDEPAAG	GPEEEAEDET	LAFGAALEAF	GESAETRALL	GRLREVHGGG	AEREVALERF
70	80	90	100	110	120
RVIMDKYQEQ	PHLLDPHLEW	MMNLLLDIVQ	DQTSPASLVH	LAFKFLYIIT	KVRGYKTFLR
130	140	150	160	170	180
LFPHEVADVE	PVLDLVTIQN	PKDHEAWETR	YMLLLWLSVT	CLIPFDFSRL	DGNLLTQPGQ
190	200	210	220	230	240
ARMSIMDRIL	QIAESYLIVS	DKARDAAAVL	VSRFITRPDV	KQSKMAEFLD	WSLCNLARSS
250	260	270	280	290	300
FQTMQGVITM	DGTLQALAQI	FKHGKREDCL	PYAATVLRCL	DGCRLPESNQ	TLLRKLGVKL
310	320	330	340	350	360
VQRLGLTFLK	PKVAAWRYQR	GCRSLAANLQ	LLTQGQSEQK	PLILTEDDDE	DDDVPEGVER
370	380	390	400	410	420
VIEQLLVGLK	DKDTVVRWSA	AKGIGRMAGR	LPRALADDVV	GSVLDCFSFQ	ETDKAWHGGC
430	440	450	460	470	480
LALAELGRRG	LLLPSRLVDV	VAVILKALTY	DEKRGACSVG	TNVRDAACYV	CWAFARAYEP
490	500	510	520	530	540
QELKPFVTAI	SSALVIAAVF	DRDINCRRAA	SAAFQENVGR	QGTFPHGIDI	LTTADYFAVG
550	560	570	580	590	600
NRSNCFLVIS	VFIAGFPEYT	QPMIDHLVTM	KISHWDGVIR	ELAARALHNL	AQQAPEFSAT
610	620	630	640	650	660
QVFPRLLSMT	LSPDLHMRHG	SILACAEVAY	ALYKLAAQEN	RPVTDHLDEQ	AVQGLKQIHQ
670	680	690	700	710	720
QLYDRQLYRG	LGGQLMRQAV	CVLIEKLSLS	KMPFRGDTVI	DGWQWLINDT	LRHLHLISSH
730	740	750	760	770	780
SRQQMKDAAV	SALAALCSEY	YMKEPGEADP	AIQEELITQY	LAELRNPEEM	TRCGFSLALG
790	800	810	820	830	840
ALPGFLLKGR	LQQVLTGLRA	VTHTSPEDVS	FAESRRDGLK	AIARICQTVG	VKAGAPDEAV
850	860	870	880	890	900
CGENVSQIYC	ALLGCMDDYT	TDSRGDVGTW	VRKAAMTSLM	DLTLLLARSQ	PELIEAHTCE
910	920	930	940	950	960
RIMCCVAQQA	SEKIDRFRAH	AASVFLTLLH	FDSPPIPHVP	HRGELEKLFP	RSDVASVNWS
970	980	990	1000	1010	1020
APSQAFPRIT	QLLGLPTYRY	HVLLGLVVSL	GGLTESTIRH	STQSLFEYMK	GIQSDPQALG
1030	1040	1050	1060	1070	1080
SFSGTLLQIF	EDNLLNERVS	VPLLKTLDHV	LTHGCFDIFT	TEEDHPFAVK	LLALCKKEIK
1090	1100	1110	1120	1130	1140
NSKDIQKLLS	GIAVFCEMVQ	FPGDVRRQAL	LQLCLLLCHR	FPLIRKTTAS	QVYETLLTYS
1150	1160	1170	1180	1190
DVVGADVLDE	VVTVLSDTAW	DAELAVVREQ	RNRLCDLLGV	PRPQLVPQPG	AC