AiPD: Autoinhibited Protein Database

Q3MJ13

Gene name	WDR72
Protein name	WD repeat-containing protein 72
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:256764
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

593-680 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

593-680 (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 Q3MJ13

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q3MJ13-F1	Predicted				AlphaFoldDB

1016 variants for Q3MJ13

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA270751123 RCV001119123 rs200374434	18	H>R	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002272302 CA7571550 COSM1478196 rs770804941 RCV000604368	30	R>*	Variant assessed as Somatic; 0.0 impact. Amelogenesis imperfecta hypomaturation type 2A3 Amelogenesis imperfecta breast [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001119122 CA270751002 rs1009489505	43	L>F	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_060045 rs690346 RCV000242733 RCV001683145 RCV000360705 CA7571468 RCV002244718	100	M>V	Amelogenesis Imperfecta, Recessive Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001116086 rs140373011 CA7571436	121	M>I	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs140484726 CA10647166 RCV000359474	137	L>V	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1266819147 CA392540136 RCV000624152	236	W>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003163270 RCV001116084 rs370145481 CA7571327	246	L>R	Amelogenesis imperfecta hypomaturation type 2A3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000309393 rs886051302 CA10647165	256	Q>E	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002244720 RCV000395326 RCV001651284 RCV000252256 CA7571268 rs551225	306	P>L	Amelogenesis Imperfecta, Recessive Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1029083427 CA270769062 RCV001119028	319	E>D	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA7571199 rs200333070 RCV000289275	371	V>L	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000395321 rs35258188 VAR_057633 CA7571181	399	K>Q	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10642238 RCV000348670 rs886051301	403	G>R	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2017308454 RCV001119027	430	I>V	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
CA10647163 RCV000293697 rs886051300	465	T>S	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000319419 rs34123953 CA7571130 VAR_057634	479	Q>H	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000148931 rs606231462	491	V>missing	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
CA392536246 RCV001117425 rs748269156	510	G>D	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001117424 rs200748257 RCV002556499 CA7571107	517	M>V	Amelogenesis imperfecta hypomaturation type 2A3 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000373005 rs777274290 CA7571084	525	R>K	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001115972 CA392535437 rs1200122301	535	G>D	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7571052 RCV001115971 rs369193227	560	V>M	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000677368 RCV001115969 CA392529190 rs1376457227	593	R>G	Amelogenesis imperfecta hypomaturation type 2A3 Renal tubular acidosis, distal, 4, with hemolytic anemia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000357533 CA10636267 rs886051298 CA392528299	640	G>R	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_062106 rs60404950 RCV000321461 CA7570888	781	K>E	Amelogenesis Imperfecta, Recessive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs267607178 RCV000000255 CA114063	783	S>*	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs150548151 RCV001120894 CA7570885	786	V>G	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369011394 CA7570860 RCV001120893	815	C>Y	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000271084 rs17730281 VAR_026837 RCV001709561 RCV000247021 CA7570856 RCV002244716	819	L>F	Amelogenesis Imperfecta, Recessive Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7570850 rs16966320 VAR_026838 RCV000366046	833	S>A	Amelogenesis Imperfecta, Recessive [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7570846 rs768446132 RCV000677369	841	L>Q	Renal tubular acidosis, distal, 4, with hemolytic anemia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2013726558 RCV001118930	857	Y>H	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
RCV002491342 CA7570824 rs557128345 RCV000677370	896	R>*	Variant assessed as Somatic; 0.0 impact. Amelogenesis imperfecta hypomaturation type 2A3 Renal tubular acidosis, distal, 4, with hemolytic anemia [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000369389 rs750256834 CA7570816	903	Y>D	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs146698292 RCV000399949 CA7570812	914	L>S	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs606231351 RCV000000257	953	S>missing	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
CA114065 RCV000000256 RCV000421226 rs143816093	978	W>*	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001117313 CA7570734 rs188590145	981	Q>R	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001117311 rs2012816001	1043	R>I	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
RCV001117310 rs1891896792	1082	E>V	Amelogenesis imperfecta hypomaturation type 2A3 [ClinVar]	Yes	ClinVar dbSNP
CA270751204 rs961926215	2	R>K		No	ClinGen TOPMed
CA392528978 rs1595880774	2	R>W		No	ClinGen Ensembl
CA392528959 rs1382608912	3	T>S		No	ClinGen gnomAD
rs267604260 CA270751194 COSM1708194	4	S>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7571568 rs368805908	5	L>P		No	ClinGen ESP ExAC gnomAD
rs1470360632 CA392528912	7	A>T		No	ClinGen gnomAD
rs1414500978 CA392528895	8	V>A		No	ClinGen gnomAD
rs769375691 CA7571566	9	A>T		No	ClinGen ExAC gnomAD
rs747846594 CA7571565	10	L>F		No	ClinGen ExAC gnomAD
rs1224731629 CA392528856	11	W>R		No	ClinGen gnomAD
CA392528837 rs1445790297	12	G>R		No	ClinGen gnomAD
CA7571563 rs1555429495	13	Q>*		No	ClinGen Ensembl
rs1567054819 CA392528814	13	Q>H		No	ClinGen Ensembl
rs780706833 CA392528820	13	Q>L		No	ClinGen ExAC gnomAD
rs780706833 CA7571562	13	Q>R		No	ClinGen ExAC gnomAD
CA7571561 rs755431811	14	K>R		No	ClinGen ExAC gnomAD
CA392528785 rs1595880699 COSM242251	15	A>D	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA392528793 rs1353340888	15	A>T		No	ClinGen TOPMed gnomAD
rs751851314 CA7571560	16	P>R		No	ClinGen ExAC gnomAD
CA7571559 rs780656028	17	P>S		No	ClinGen ExAC gnomAD
TCGA novel	18	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571558 rs199562877	19	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA392528714 rs1437913590	20	I>V		No	ClinGen gnomAD
rs749328784 CA7571557	23	I>V		No	ClinGen ExAC gnomAD
CA7571555 rs761816735	24	M>I		No	ClinGen ExAC
CA7571556 rs765315707	24	M>V		No	ClinGen ExAC gnomAD
CA7571554 rs754153922	25	I>M		No	ClinGen ExAC gnomAD
CA392528616 rs1401183037	25	I>V		No	ClinGen gnomAD
CA392528607 rs1173989014	26	T>A		No	ClinGen gnomAD
CA392528574 rs1283221671	28	D>N		No	ClinGen TOPMed gnomAD
CA392528553 rs1403568204	29	Q>*		No	ClinGen gnomAD
rs770804941 CA7571551	30	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7571549 rs372307937	30	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571548 rs372307937	30	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA392528517 rs1381695517	31	T>M		No	ClinGen gnomAD
CA392528514 rs1194581412	32	I>F		No	ClinGen gnomAD
rs1261733326 CA392528493	33	V>A		No	ClinGen gnomAD
rs1595880608 CA392528468	35	G>A		No	ClinGen Ensembl
CA270751023 COSM140067 rs963671746	35	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1322416331 CA392528445	37	Q>*		No	ClinGen gnomAD
rs758705581 CA7571541	37	Q>L		No	ClinGen ExAC gnomAD
rs758705581 CA392528443	37	Q>R		No	ClinGen ExAC gnomAD
rs267604259 CA270751012	39	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs142154661 CA7571540	40	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA270751007 COSM41480 rs781247359	40	Q>H	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	40	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs569905365 CA7571539	41	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392528370 rs569905365	41	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270751001 rs753838490	44	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7571537 rs753838490	44	W>C		No	ClinGen ExAC TOPMed gnomAD
CA7571538 rs757413565	44	W>R		No	ClinGen ExAC TOPMed gnomAD
CA392528283 rs1367194042	45	N>D		No	ClinGen gnomAD
CA270750996 rs369329738	45	N>S		No	ClinGen Ensembl
CA7571536 rs764416138	46	L>I		No	ClinGen ExAC
CA392528215 rs1406182304	49	E>K		No	ClinGen TOPMed
rs752911105 CA7571534	50	L>P		No	ClinGen ExAC TOPMed gnomAD
rs552995243 CA7571512	52	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392527095 rs552995243	52	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392527083 rs1483774702	53	S>T		No	ClinGen gnomAD
CA392527072 rs1288933119	54	A>T		No	ClinGen gnomAD
CA7571510 rs200899249 COSM434040	54	A>V	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392527064 rs1279781284	55	K>E		No	ClinGen TOPMed
CA7571508 rs760229222	55	K>N		No	ClinGen ExAC gnomAD
CA392527020 rs1197563611	58	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA270741184 rs267604258	60	G>A		No	ClinGen TOPMed
rs267604258 CA270741187	60	G>D		No	ClinGen TOPMed
CA392527001 rs1411862479	61	H>N		No	ClinGen gnomAD
CA392526998 rs1177194538	61	H>P		No	ClinGen TOPMed
rs1363840873 CA392526993	61	H>Q		No	ClinGen gnomAD
CA7571505 rs111227369	63	A>V		No	ClinGen ExAC gnomAD
COSM191122 CA7571504 rs774729040	64	S>L	Variant assessed as Somatic; 0.0007855 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs987114935 CA270741144	69	A>G		No	ClinGen Ensembl
CA392526948 rs1418824582	69	A>T		No	ClinGen gnomAD
rs372822965 CA270741142	71	A>G		No	ClinGen ESP
rs778273350 CA7571501	71	A>T		No	ClinGen ExAC gnomAD
CA392526921 rs1406581087	73	D>V		No	ClinGen TOPMed gnomAD
CA7571499 rs193141655	75	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392526891 rs987690495 CA270741110	77	Q>H		No	ClinGen TOPMed gnomAD
rs755286091 CA7571497	79	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	79	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751786447 CA7571496	80	I>V		No	ClinGen ExAC gnomAD
CA392526871 rs778585892	81	V>F		No	ClinGen ExAC gnomAD
rs778585892 CA7571495	81	V>L		No	ClinGen ExAC gnomAD
CA392526866 rs1268500015	82	S>R		No	ClinGen gnomAD
rs201797944 CA7571493	83	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392526853 COSM3981569 rs1282747117	84	A>T	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA392526843 rs1567048956	85	E>G		No	ClinGen Ensembl
rs1302959432 CA392526830	87	G>R		No	ClinGen TOPMed
CA7571475 rs753647043	88	E>G		No	ClinGen ExAC gnomAD
rs1011722057 CA270735464	90	C>R		No	ClinGen TOPMed gnomAD
CA392526613 rs1595870293	90	C>W		No	ClinGen Ensembl
CA7571474 rs777609558	90	C>Y		No	ClinGen ExAC gnomAD
rs145161042 CA7571473	91	V>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	93	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392526589 rs1459846533	94	V>I		No	ClinGen gnomAD
rs767024154 CA7571471	97	G>R		No	ClinGen ExAC gnomAD
rs530593628 CA392526551	99	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530593628 CA7571470	99	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1484358124 CA392526554	99	C>Y		No	ClinGen gnomAD
rs1337531438 CA392526546	100	M>R		No	ClinGen gnomAD
CA270735422 rs138139216	101	E>Q		No	ClinGen ESP TOPMed gnomAD
CA392526526 rs763274902	103	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763274902 CA7571467	103	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	104	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270735421 rs773658690	105	L>H		No	ClinGen ExAC gnomAD
rs773658690 CA7571466	105	L>R		No	ClinGen ExAC gnomAD
CA270735389 rs1030177147	107	Y>*		No	ClinGen TOPMed gnomAD
rs200230209 CA7571465	107	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA392526500 rs1335256154	108	R>G		No	ClinGen TOPMed gnomAD
rs1313436856 CA392526491	109	H>N		No	ClinGen TOPMed
rs1403812763 CA392526487	109	H>Q		No	ClinGen TOPMed gnomAD
CA392526489 rs1396315349	109	H>R		No	ClinGen gnomAD
CA392526482 rs1295955418	110	T>N		No	ClinGen gnomAD
CA392526476 rs1461011852	111	A>E		No	ClinGen gnomAD
TCGA novel	111	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	112	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs953631167 CA270734213	114	Y>C		No	ClinGen Ensembl
rs775668260 CA7571441	115	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs150410771 CA7571440	116	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212123872 CA392526429	116	H>R		No	ClinGen gnomAD
rs746111659 CA7571439	117	C>R		No	ClinGen ExAC gnomAD
TCGA novel	119	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144285622 CA7571437	120	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7571438 rs774365556	120	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs190484111 CA270734167	121	M>L		No	ClinGen 1000Genomes gnomAD
CA392526401 rs190484111	121	M>V		No	ClinGen 1000Genomes gnomAD
TCGA novel	124	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382587777 CA392526371	125	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1388421234 CA392526375	125	G>S		No	ClinGen gnomAD
CA392526368 rs1158139399	126	W>R		No	ClinGen gnomAD
rs1214112254 CA392526358	127	L>F		No	ClinGen TOPMed
TCGA novel	131	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392526307 rs1457967153	134	Q>P		No	ClinGen gnomAD
TCGA novel	136	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571432 rs779630821	136	V>I		No	ClinGen ExAC TOPMed gnomAD
rs140484726 CA270734143	137	L>F		No	ClinGen ESP TOPMed gnomAD
rs1201726023 CA392526281	138	I>T		No	ClinGen gnomAD
rs757781234 CA7571431	139	I>V		No	ClinGen ExAC gnomAD
TCGA novel	140	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209688832 CA392526272	140	D>N		No	ClinGen gnomAD
CA7571430 rs540713406	141	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1269585136 COSM555542 CA392526255	142	K>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA392526247 rs1221271352	143	T>S		No	ClinGen TOPMed gnomAD
CA7571429 rs764972742	145	A>G		No	ClinGen ExAC TOPMed gnomAD
CA392526225 rs1274912110	147	V>F		No	ClinGen gnomAD
rs1324542391 CA392526214	148	H>Q		No	ClinGen gnomAD
rs757748194 CA7571428	149	S>G		No	ClinGen ExAC gnomAD
CA392526186 rs1391144265	152	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392526182 rs1335031193	153	S>Y		No	ClinGen gnomAD
rs1595869332 CA392526174	154	Q>R		No	ClinGen Ensembl
CA7571426 rs764511570	158	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7571425 rs761263448	159	I>S		No	ClinGen ExAC gnomAD
rs1174326373 CA392526131	160	N>S		No	ClinGen gnomAD
rs753084210 CA7571424	162	M>V		No	ClinGen ExAC gnomAD
rs767634665 CA7571423	163	C>Y		No	ClinGen ExAC gnomAD
CA7571422 rs759529184	164	I>L		No	ClinGen ExAC gnomAD
CA7571421 rs774612790	165	V>F		No	ClinGen ExAC gnomAD
CA7571419 rs117824043	166	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392526078 rs1415842768	168	M>L		No	ClinGen TOPMed
rs145908725 CA270734106	172	E>K		No	ClinGen ESP TOPMed gnomAD
CA270733369 rs1024369626	173	D>E		No	ClinGen TOPMed gnomAD
rs368607251 CA7571405	173	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767897173 CA7571404	175	L>F		No	ClinGen ExAC TOPMed gnomAD
CA392526015 rs1227481856	175	L>P		No	ClinGen gnomAD
TCGA novel	176	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392526003 rs1273975169	177	V>A		No	ClinGen Ensembl
rs759710287 CA7571403	177	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751606837 CA7571402	178	V>L		No	ClinGen ExAC TOPMed gnomAD
rs199915074 CA7571400	179	S>*		No	ClinGen 1000Genomes ExAC gnomAD
CA7571399 rs773358454	180	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7571398 rs200822732	182	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392525945 rs1406276612	187	W>G		No	ClinGen gnomAD
CA7571394 rs775549952	190	S>F		No	ClinGen ExAC gnomAD
rs771876577 CA7571393	191	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA270733320 rs201955540	192	S>C		No	ClinGen ExAC gnomAD
CA7571392 rs201955540	192	S>F		No	ClinGen ExAC gnomAD
rs748201933 CA270733329	192	S>T		No	ClinGen TOPMed
rs1402040475 CA392525898	194	N>K		No	ClinGen TOPMed gnomAD
rs778586553 CA7571391	195	S>R		No	ClinGen ExAC gnomAD
rs1246407094 COSM1678480 CA392525882	197	Q>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1300676881 CA392540381	200	Q>H		No	ClinGen gnomAD
rs1220323836 CA392540374	201	D>E		No	ClinGen gnomAD
CA392540368 rs1409002623	202	V>A		No	ClinGen TOPMed
CA392540311 rs1353094945	210	L>I		No	ClinGen TOPMed
rs555482004 CA7571368	210	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1595867617 CA392540300	211	E>D		No	ClinGen Ensembl
rs368334900 CA7571367	215	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA392540276 rs1426990703	215	C>S		No	ClinGen TOPMed
CA7571366 rs755270622	216	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	217	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270776383 rs925563718	218	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392540251 rs1427118043 COSM962904	219	R>*	Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1186474436 CA392540248 COSM962903	219	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs780525916 CA7571364	222	T>A		No	ClinGen ExAC TOPMed gnomAD
rs967306121 CA270776351	222	T>I		No	ClinGen TOPMed gnomAD
rs1361295224 CA392540223	223	Y>C		No	ClinGen TOPMed
CA270776332 rs923659797	224	T>A		No	ClinGen Ensembl
rs750474186 CA7571362	225	E>A		No	ClinGen ExAC gnomAD
CA392540214 rs1210850711	225	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	226	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366449681 CA392540202	226	R>S		No	ClinGen gnomAD
CA392540204 rs1228284417	226	R>T		No	ClinGen gnomAD
CA7571359 rs754031142	232	F>Y		No	ClinGen ExAC gnomAD
rs977638459 CA270776310	233	S>F		No	ClinGen Ensembl
rs1489844295 CA392540150	235	C>R		No	ClinGen TOPMed
CA7571333 rs776196602	238	V>G		No	ClinGen ExAC
CA7571334 rs374531334	238	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571331 rs760283970	240	D>E		No	ClinGen ExAC gnomAD
CA7571332 rs768267572	240	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1350534829 CA392540093	241	Y>C		No	ClinGen gnomAD
rs775859820 CA7571330	243	D>G		No	ClinGen ExAC TOPMed gnomAD
rs772368657 CA7571329	245	S>F		No	ClinGen ExAC
rs370145481 CA392540057	246	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs770969418 CA7571325	249	T>P		No	ClinGen ExAC gnomAD
rs1456904453 CA392540043	249	T>S		No	ClinGen TOPMed
CA270774749 rs928041409	250	E>*		No	ClinGen gnomAD
rs928041409 CA392540041	250	E>K		No	ClinGen gnomAD
CA270774727 COSM1724701 rs982209559	251	V>G	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs749361278 CA7571324	251	V>L		No	ClinGen ExAC gnomAD
rs778180014 CA7571323	252	S>T		No	ClinGen ExAC gnomAD
rs1567042718 CA392540020	253	R>K		No	ClinGen Ensembl
rs201847149 CA270774691	254	N>T		No	ClinGen Ensembl
rs756436240 CA7571322	255	G>A		No	ClinGen ExAC gnomAD
rs1435330108 CA392539971	260	G>D		No	ClinGen TOPMed
CA392539961 rs1364862978	262	E>Q		No	ClinGen TOPMed
rs111845511 CA7571318	267	H>N		No	ClinGen 1000Genomes ExAC gnomAD
rs111845511 CA7571319	267	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs765198263 CA7571317	268	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1433392144 CA392539920	268	R>I		No	ClinGen TOPMed
rs1230984968 CA392539909	270	L>V		No	ClinGen gnomAD
rs1323989520 CA392539903	271	I>F		No	ClinGen TOPMed gnomAD
rs566975485 CA270774604	273	T>I		No	ClinGen 1000Genomes
CA7571313 rs760336688	277	H>R		No	ClinGen ExAC gnomAD
CA392539840 rs1457954173 CA392539839	279	Y>*		No	ClinGen TOPMed gnomAD
CA7571312 rs775060273	280	I>V		No	ClinGen ExAC gnomAD
rs1170825175 CA392539828	281	Y>C		No	ClinGen gnomAD
CA7571310 rs759928753	282	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA392539824 rs759928753	282	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392539819 rs774765107	282	Q>H		No	ClinGen ExAC gnomAD
CA7571311 rs759928753	282	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA7571308 rs771433919	284	L>P		No	ClinGen ExAC gnomAD
rs913717414 CA270774541	285	N>D		No	ClinGen Ensembl
CA7571307 rs749717416	285	N>S		No	ClinGen ExAC gnomAD
CA7571306 rs773447297	286	S>C		No	ClinGen ExAC gnomAD
rs374482757 CA7571276	291	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571275 rs564342414	292	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs12905661 CA270774093	293	Y>H		No	ClinGen TOPMed gnomAD
rs1287464345 CA392539659	294	P>A		No	ClinGen gnomAD
CA392539657 rs754680544	294	P>H		No	ClinGen ExAC gnomAD
CA7571274 rs754680544	294	P>R		No	ClinGen ExAC gnomAD
rs866145771 CA270774089	295	A>T		No	ClinGen Ensembl
rs1595866363 CA392539651	295	A>V		No	ClinGen Ensembl
rs1005738257 CA270774072	297	G>E		No	ClinGen TOPMed
COSM1301232 rs1210155716 CA392539635	298	R>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7571272 rs766770077	299	V>E		No	ClinGen ExAC gnomAD
rs763405705 CA7571271	301	K>E		No	ClinGen ExAC gnomAD
rs773905112 CA7571270	302	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	302	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270774044 rs12905777	302	E>Q		No	ClinGen Ensembl
rs773905112 CA392539610	302	E>V		No	ClinGen ExAC TOPMed gnomAD
CA392539603 rs1595866338	303	T>I		No	ClinGen Ensembl
rs1444969836 CA392539599	304	I>V		No	ClinGen gnomAD
rs1188346561 CA392539585	306	P>T		No	ClinGen TOPMed
TCGA novel	309	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1033956351 CA270774018	311	S>F		No	ClinGen Ensembl
TCGA novel	312	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392539547 rs1471352699	312	T>P		No	ClinGen gnomAD
CA7571265 rs201196697	314	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1315305967 CA392539511	317	N>S		No	ClinGen gnomAD
CA7571263 rs770820617	317	N>Y		No	ClinGen ExAC gnomAD
rs779577436 CA7571238	319	E>K		No	ClinGen ExAC gnomAD
CA7571237 rs758148753	322	R>C		No	ClinGen ExAC gnomAD
rs549180453 CA7571236	322	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529053264 CA7571235	323	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392539460 rs1363954186	323	P>H		No	ClinGen TOPMed gnomAD
rs1363954186 CA392539458	323	P>L		No	ClinGen TOPMed gnomAD
CA392539436 rs1480949721 COSM137008	326	M>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1454934268 CA392539439	326	M>T		No	ClinGen TOPMed gnomAD
CA392539442 rs1595863464	326	M>V		No	ClinGen Ensembl
rs1356906158 CA392539431	327	G>D		No	ClinGen gnomAD
CA7571233 rs754431536	328	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs143944761 CA7571232	329	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143944761 CA7571231	329	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs927844241 CA270769026	331	E>G		No	ClinGen TOPMed gnomAD
CA7571229 rs200746058	333	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200746058 CA7571230	333	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767523993 CA7571227	335	P>H		No	ClinGen ExAC gnomAD
CA392539359 rs1333690436	337	Y>*		No	ClinGen TOPMed
CA7571226 rs765084349	337	Y>C		No	ClinGen ExAC gnomAD
CA7571225 rs761498935	338	K>*		No	ClinGen ExAC gnomAD
rs1595863418 CA392539351	339	V>I		No	ClinGen Ensembl
CA392539313 rs1285643860	344	E>D		No	ClinGen TOPMed
rs776671850 CA7571224	345	V>G		No	ClinGen ExAC gnomAD
CA392539311 rs1212233988	345	V>I		No	ClinGen gnomAD
CA392539310 rs1212233988	345	V>L		No	ClinGen gnomAD
rs139495300 CA7571223	346	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138509133 CA7571222	350	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	350	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392539248 rs1383543573	354	I>T		No	ClinGen gnomAD
TCGA novel	356	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	357	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571221 rs775155662	357	V>I		No	ClinGen ExAC gnomAD
rs1415335226 CA392539222	358	P>L		No	ClinGen gnomAD
CA7571220 rs771644692 COSM1708193	358	P>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs745584929 CA270768933	360	S>F		No	ClinGen ExAC TOPMed gnomAD
rs745584929 CA7571219	360	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA7571218 rs371999648	361	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs757748335 CA7571217	362	F>L		No	ClinGen ExAC gnomAD
rs201744081 CA270768917	362	F>S		No	ClinGen TOPMed
rs749580532 CA7571216	363	D>H		No	ClinGen ExAC TOPMed gnomAD
rs749580532 CA392539198	363	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1201253662 CA392539194	363	D>V		No	ClinGen TOPMed
rs905240148 CA270768903	366	P>L		No	ClinGen TOPMed
rs1165891167 CA392539112	368	E>D		No	ClinGen gnomAD
CA7571201 rs367708930	369	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs879524028 CA270767953	371	V>E		No	ClinGen Ensembl
CA7571198 rs770517622	372	T>A		No	ClinGen ExAC gnomAD
CA7571197 rs142505794	373	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571196 rs142505794	373	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392539029 rs1208381184	374	T>I		No	ClinGen gnomAD
CA392538989 rs1388317416	376	T>I		No	ClinGen TOPMed
CA392538961 rs1402317774	378	Q>R		No	ClinGen TOPMed
CA392538935 rs1318878746	379	D>E		No	ClinGen TOPMed
TCGA novel	379	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571194 rs140125050	381	F>L		No	ClinGen ESP ExAC gnomAD
CA7571193 TCGA novel rs201220840	382	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392538877 rs1432229198	383	K>Q		No	ClinGen TOPMed
rs1238260154 CA392538813	386	T>I		No	ClinGen gnomAD
CA7571190 rs766398307	387	M>R		No	ClinGen ExAC gnomAD
CA7571191 rs751670305	387	M>V		No	ClinGen ExAC gnomAD
rs529813574 CA270767911	389	Q>E		No	ClinGen gnomAD
CA392538777 rs529813574	389	Q>K		No	ClinGen gnomAD
rs201156145 COSM1290401 CA7571189	389	Q>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA7571188 rs750593363	391	I>M		No	ClinGen ExAC
CA7571187 rs763864389	392	I>F		No	ClinGen ExAC gnomAD
CA7571185 rs752734377	392	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7571186 rs112258113	392	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571184 rs202057135	393	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1268925210 CA392538699	394	Y>N		No	ClinGen TOPMed gnomAD
CA392538652 rs759503260	396	S>C		No	ClinGen ExAC gnomAD
CA7571183 rs759503260	396	S>F		No	ClinGen ExAC gnomAD
rs774016958 CA7571182	398	L>P		No	ClinGen ExAC gnomAD
CA392538595 rs1464881434	400	D>E		No	ClinGen TOPMed
rs368624639 CA7571180	402	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA270767816 rs753859830	404	T>I		No	ClinGen Ensembl
rs772911926 CA7571179	404	T>S		No	ClinGen ExAC gnomAD
TCGA novel	405	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770112804 CA7571178	411	E>D		No	ClinGen ExAC gnomAD
TCGA novel	411	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392538432 rs1230964728	412	Y>C		No	ClinGen gnomAD
rs748489316 CA392538374	416	L>F		No	ClinGen ExAC TOPMed gnomAD
rs748489316 CA7571177	416	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7571176 rs781693996	416	L>R		No	ClinGen ExAC
rs1303784201 CA392538315	420	I>V		No	ClinGen gnomAD
rs1187127400 CA392538297	421	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1367001118 CA392538290	421	C>Y		No	ClinGen TOPMed
CA270767770 rs367586778	422	G>V		No	ClinGen ESP
CA392538234 rs1443392187	424	E>A		No	ClinGen gnomAD
rs747457295 CA7571174	426	G>E		No	ClinGen ExAC
rs1262091583 CA392538169	428	I>M		No	ClinGen gnomAD
CA7571173 rs780003826	428	I>T		No	ClinGen ExAC gnomAD
rs1411073816 CA392538165	429	I>V		No	ClinGen TOPMed
rs1317756832 CA392538140	430	I>T		No	ClinGen gnomAD
CA7571172 rs758502012	431	T>A		No	ClinGen ExAC gnomAD
CA392538067 rs1171397789	435	N>S		No	ClinGen gnomAD
CA7571171 rs750670993	436	A>D		No	ClinGen ExAC gnomAD
rs750670993 CA392538053	436	A>V		No	ClinGen ExAC gnomAD
rs1396083878 CA392538048	437	A>T		No	ClinGen gnomAD
CA7571170 rs779176147	438	K>E		No	ClinGen ExAC TOPMed gnomAD
CA392537983 rs1245859002	441	L>V		No	ClinGen gnomAD
TCGA novel	442	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395002443 CA392537961	442	L>P		No	ClinGen TOPMed
CA7571167 rs752574916	443	E>A		No	ClinGen ExAC gnomAD
rs988473544 CA392537932	444	G>C		No	ClinGen TOPMed gnomAD
CA270767697 rs988473544	444	G>S		No	ClinGen TOPMed gnomAD
rs767368116 CA7571166	445	G>V		No	ClinGen ExAC gnomAD
CA7571165 rs751472945	447	L>F		No	ClinGen ExAC gnomAD
rs1280807525 CA392537896	447	L>V		No	ClinGen TOPMed gnomAD
rs765869677 CA7571163	449	K>Q		No	ClinGen ExAC gnomAD
CA7571147 rs370640356	451	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354323534 CA392536845	452	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	453	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571145 rs766316332	454	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1410202299 CA392536836	454	H>Y		No	ClinGen gnomAD
rs1289656714 CA392536808	458	K>T		No	ClinGen TOPMed gnomAD
CA392536784 rs1474621821	461	H>Q		No	ClinGen TOPMed gnomAD
rs200640430 CA7571144	461	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs749980750 CA7571143	462	Q>*		No	ClinGen ExAC gnomAD
rs1567037195 CA392536780	462	Q>R		No	ClinGen Ensembl
rs1567037190 CA392536774	463	S>G		No	ClinGen Ensembl
rs1567037185 CA392536772	463	S>N		No	ClinGen Ensembl
rs764594546 CA7571142	465	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1296771169 CA392536742	468	L>F		No	ClinGen TOPMed
CA392536740 rs1377748744	468	L>P		No	ClinGen TOPMed
rs6416452 CA392536731 CA392536732	469	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392536735 rs1415914397	469	Y>S		No	ClinGen TOPMed
rs377283613 CA7571138	471	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs764502951 CA7571139	471	H>Y		No	ClinGen ExAC gnomAD
rs775904194 CA7571137	472	G>S		No	ClinGen ExAC gnomAD
rs1197711257 CA392536712	473	L>V		No	ClinGen Ensembl
CA7571135 rs746315288	474	S>F		No	ClinGen ExAC
COSM2152648 rs201559909 CA7571133	475	S>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754868133 CA7571129	480	S>N		No	ClinGen ExAC gnomAD
CA270764149 rs774567575	481	W>L		No	ClinGen TOPMed gnomAD
CA392536656 rs774567575	481	W>S		No	ClinGen TOPMed gnomAD
rs758370338 CA7571127	482	M>L		No	ClinGen ExAC TOPMed gnomAD
rs758370338 CA7571126	482	M>V		No	ClinGen ExAC TOPMed gnomAD
CA392536627 rs1323546526 COSM1678479	484	S>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750261617 CA7571125	484	S>C		No	ClinGen ExAC gnomAD
rs1323546526 CA392536629	484	S>P		No	ClinGen gnomAD
rs1197590772 CA392536619	485	G>R		No	ClinGen gnomAD
rs764795550 CA7571124	486	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1166395754 CA392536598	486	D>E		No	ClinGen TOPMed gnomAD
CA270764120 rs993027223	486	D>N		No	ClinGen TOPMed gnomAD
CA392536605 rs993027223	486	D>Y		No	ClinGen TOPMed gnomAD
CA7571123 rs199558782	488	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs763707650 CA7571121	490	C>R		No	ClinGen ExAC gnomAD
rs760283962 CA392536538	490	C>W		No	ClinGen ExAC gnomAD
rs1397237137 CA392536494	494	W>R		No	ClinGen TOPMed
CA392536470 rs1285631946	495	D>E		No	ClinGen gnomAD
rs113003513 CA7571117	495	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366013526 CA392536459	496	I>T		No	ClinGen gnomAD
rs774713711 CA7571116	496	I>V		No	ClinGen ExAC gnomAD
rs1330911595 CA392536441	497	F>S		No	ClinGen Ensembl
CA392536414 rs1439725015	499	E>A		No	ClinGen gnomAD
TCGA novel	501	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749354192 CA7571114	501	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1451060123 CA618504585	502	L>*		No	ClinGen gnomAD
rs1393148688 CA392536370	502	L>S		No	ClinGen TOPMed
rs773606730 CA7571113	503	H>R		No	ClinGen ExAC gnomAD
rs1344080815 CA392536265	509	A>T		No	ClinGen gnomAD
rs770171059 CA7571112	509	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748269156 CA7571111	510	G>A		No	ClinGen ExAC gnomAD
CA7571110 rs370585059	511	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393055928 CA392536238	511	P>S		No	ClinGen gnomAD
rs758124722 CA7571109	513	T>A		No	ClinGen ExAC gnomAD
CA392536203 rs1444804655	514	S>T		No	ClinGen TOPMed
rs200748257 CA392536167	517	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392536131 rs1242770867	519	P>R		No	ClinGen gnomAD
CA7571106 rs200546294	521	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7571105 rs761015035	522	F>I		No	ClinGen ExAC TOPMed gnomAD
CA270763970 rs1019471153	523	K>E		No	ClinGen TOPMed
rs749162614 CA7571085	525	R>G		No	ClinGen ExAC gnomAD
rs777274290 CA392535501 COSM3672073	525	R>M	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752455308 CA7571083 CA392535500	525	R>S		No	ClinGen ExAC gnomAD
rs777274290 CA392535502	525	R>T		No	ClinGen ExAC TOPMed gnomAD
CA392535497 rs1474301134	526	G>C		No	ClinGen gnomAD
CA392535498 rs1474301134	526	G>S		No	ClinGen gnomAD
CA392535494 rs1595859293	526	G>V		No	ClinGen Ensembl
CA392535478 rs1341389685	528	Q>H		No	ClinGen TOPMed
rs780688586 CA7571081	530	I>L		No	ClinGen ExAC gnomAD
rs755413225 CA7571080	531	C>F		No	ClinGen ExAC gnomAD
rs142468241 CA270761734	532	C>F		No	ClinGen ESP
CA7571078 rs766801122	532	C>R		No	ClinGen ExAC gnomAD
rs940506312 COSM1678478 CA270761722	533	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370110698 CA7571077	533	V>L		No	ClinGen ESP ExAC TOPMed
TCGA novel	533	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138092181 CA7571074	535	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200122301 COSM555545 CA392535435	535	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7571072 rs768788459	536	D>E		No	ClinGen ExAC TOPMed gnomAD
CA392535431 rs1292058063	536	D>G		No	ClinGen gnomAD
CA7571073 rs776950766	536	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7571071 rs760898668	537	H>R		No	ClinGen ExAC gnomAD
COSM225357 CA270761664 rs867393134	538	S>F	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs377711188 CA7571068 CA7571069	539	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7571067 rs377711188	539	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1462039276 CA392535411	540	A>D		No	ClinGen gnomAD
CA392535412 rs931697459	540	A>S		No	ClinGen TOPMed gnomAD
CA270761628 rs931697459	540	A>T		No	ClinGen TOPMed gnomAD
rs1417790984 CA392535406	541	L>F		No	ClinGen TOPMed
rs769398754 CA7571066	541	L>P		No	ClinGen ExAC gnomAD
rs1164696501 CA392535385	544	L>P		No	ClinGen TOPMed
COSM1517446 CA7571065 rs747582414	545	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs921604463 CA270761604	548	S>I		No	ClinGen TOPMed
CA7571064 rs373733128	549	C>S		No	ClinGen ESP ExAC gnomAD
rs540530291 CA7571063	550	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270761591 rs140365591	550	L>R		No	ClinGen ESP TOPMed gnomAD
rs780632607 CA7571061	551	L>R		No	ClinGen ExAC gnomAD
CA392535336 rs758822572	552	H>L		No	ClinGen ExAC TOPMed gnomAD
CA7571060 rs758822572	552	H>R		No	ClinGen ExAC TOPMed gnomAD
CA392535338 rs1253092879	552	H>Y		No	ClinGen gnomAD
rs1272014846 CA392535331	553	A>S		No	ClinGen gnomAD
rs1213731047 CA392535328	553	A>V		No	ClinGen gnomAD
rs760574408 CA7571058	554	R>G		No	ClinGen ExAC TOPMed gnomAD
CA270761530 rs753883431	554	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7571056 COSM1470806 rs753883431	554	R>Q	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM299699 CA7571057 rs760574408	554	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7571055 rs764173020	555	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA392535323 rs1357158578	555	K>R		No	ClinGen TOPMed
CA392535313 rs1439009788	556	H>Q		No	ClinGen gnomAD
CA7571054 rs760888510	557	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1233940525 CA392535296	559	P>A		No	ClinGen Ensembl
rs151224179 CA270761492	559	P>L		No	ClinGen ESP TOPMed gnomAD
rs151224179 CA270761499	559	P>R		No	ClinGen ESP TOPMed gnomAD
CA392535286 rs1454703763	561	R>K		No	ClinGen gnomAD
CA7571050 COSM962897 rs773243366	565	W>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1484417741 CA392535243	566	H>Q		No	ClinGen TOPMed
rs1238845289 CA392535248	566	H>Y		No	ClinGen TOPMed
rs748071632 CA7571048	567	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748071632 CA392535239	567	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7571049 rs769653183	567	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7571046 rs142036924	568	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363331945 CA392535237	568	V>L		No	ClinGen gnomAD
rs1454429594 CA392535221	570	N>S		No	ClinGen TOPMed gnomAD
CA392535222 rs1454429594	570	N>T		No	ClinGen TOPMed gnomAD
rs746716378 CA7571045	571	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1258972337 CA392535206	572	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA392535199 rs1351247747	573	I>T		No	ClinGen gnomAD
CA392535202 rs1204490936	573	I>V		No	ClinGen gnomAD
rs779830813 CA7571043	575	G>R		No	ClinGen ExAC gnomAD
rs936374327 CA270761435	575	G>V		No	ClinGen Ensembl
rs1231855370 CA392535168	578	D>G		No	ClinGen gnomAD
CA392535161 rs1400207518	579	D>A		No	ClinGen TOPMed
rs774263130 RCV000417705 CA7571042	580	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7571040 rs779286162	581	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7571041 rs779286162	581	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1567035346 CA392535144	582	Y>S		No	ClinGen Ensembl
rs1383177863 CA392535119	585	E>A		No	ClinGen gnomAD
CA392535110 rs1567035333	586	I>M		No	ClinGen Ensembl
rs1453713994 CA392535112	586	I>T		No	ClinGen TOPMed
CA270761407 rs985604599	586	I>V		No	ClinGen Ensembl
CA392535105 rs1235697205	587	E>G		No	ClinGen gnomAD
rs1595831441 CA392529233	589	G>D		No	ClinGen Ensembl
CA7571038 rs754301059	589	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7571019 rs771317432	593	R>T		No	ClinGen ExAC gnomAD
rs1184995027 CA392529171	594	H>R		No	ClinGen gnomAD
CA7571017 rs749822580	596	T>R		No	ClinGen ExAC gnomAD
TCGA novel	598	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7571014 rs752807417	598	E>Q		No	ClinGen ExAC gnomAD
CA7571013 rs781201202	599	R>K		No	ClinGen ExAC gnomAD
rs528624783 CA7571011	600	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7571012 rs755207553	600	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7571009 rs761647336	601	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761647336 CA392529091	601	R>G		No	ClinGen ExAC gnomAD
rs368755797 CA7571007	601	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368755797 CA7571008 COSM1373535	601	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs150900206 CA7571006	602	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA392529083 rs150900206	602	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs776328350 CA7571005	603	I>T		No	ClinGen ExAC gnomAD
CA7571002 rs774036725	607	C>F		No	ClinGen ExAC
CA7571003 rs759174823	607	C>G		No	ClinGen ExAC gnomAD
rs1018596974 CA270729350	609	D>G		No	ClinGen TOPMed gnomAD
rs771253413 CA7571001	609	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	610	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270729348 rs1050294807	611	Q>H		No	ClinGen TOPMed
rs149032627 CA7571000	612	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	612	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392528864 rs1335529389	615	S>T		No	ClinGen gnomAD
CA7570998 rs770310635	618	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1465762654 CA392528771	619	I>V		No	ClinGen gnomAD
rs748597704 CA7570997	621	S>*		No	ClinGen ExAC TOPMed gnomAD
rs748597704 CA270729327	621	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781256041 CA7570996	622	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7570995 rs755046046	623	T>I		No	ClinGen ExAC gnomAD
CA7570993 rs780292318	624	L>P		No	ClinGen ExAC gnomAD
rs1468462268 CA392528662	625	K>*		No	ClinGen TOPMed gnomAD
CA7570992 rs753687929	626	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7570991 rs753687929	626	H>R		No	ClinGen ExAC TOPMed gnomAD
rs144033828 CA7570989	629	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7570990 rs763921054	629	I>V		No	ClinGen ExAC gnomAD
rs752672984 CA7570988	630	E>K		No	ClinGen ExAC gnomAD
rs1322379750 CA392528494	631	Q>K		No	ClinGen gnomAD
CA7570987 rs767190519	631	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1222554606 CA392528461	632	R>G		No	ClinGen gnomAD
rs1430723067 CA392528414	634	S>C		No	ClinGen TOPMed
rs1036402984 CA270729285	634	S>P		No	ClinGen Ensembl
CA392528386 rs1350419918	635	S>R		No	ClinGen TOPMed gnomAD
CA7570986 rs759068094	636	P>L		No	ClinGen ExAC gnomAD
CA270729280 CA7570985 rs773919756	638	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1389067277 CA392528277	641	P>T		No	ClinGen TOPMed
rs1166911933 CA392528234	643	P>L		No	ClinGen gnomAD
rs1232352011 CA392528214	644	C>F		No	ClinGen TOPMed
CA392528209 rs1398821227	645	P>A		No	ClinGen gnomAD
rs762474477 CA270729226	645	P>H		No	ClinGen Ensembl
rs770650802 CA7570984	646	G>A		No	ClinGen ExAC gnomAD
CA7570983 rs762467620	647	L>V		No	ClinGen ExAC gnomAD
CA7570982 rs773581520	648	Q>P		No	ClinGen ExAC gnomAD
rs770079578 CA7570981	649	V>M		No	ClinGen ExAC gnomAD
CA7570980 rs748720558	650	E>D		No	ClinGen ExAC
CA270729214 rs892480310	650	E>K		No	ClinGen TOPMed
CA392528110 rs1340122319	652	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1488884293 CA392528097	653	C>W		No	ClinGen gnomAD
CA392528103 rs1567013774	653	C>Y		No	ClinGen Ensembl
rs768657525 CA7570978	654	K>E		No	ClinGen ExAC TOPMed gnomAD
CA270723534 rs146114056	657	D>G		No	ClinGen ESP
rs1010640798 CA270723536	657	D>N		No	ClinGen TOPMed
CA392530296 rs1449480914	658	A>T		No	ClinGen TOPMed
rs776939462 CA7570960	659	K>N		No	ClinGen ExAC gnomAD
rs769227048 CA7570959	660	F>V		No	ClinGen ExAC gnomAD
rs1373405033 CA392530269	662	P>S		No	ClinGen gnomAD
rs1311998502 CA392530251	664	P>L		No	ClinGen gnomAD
CA392530238 rs1466776666	666	N>S		No	ClinGen gnomAD
rs1168577170 CA392530232	667	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	668	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570957 rs775641665	668	L>V		No	ClinGen ExAC gnomAD
CA7570956 rs772038245	670	V>A		No	ClinGen ExAC gnomAD
CA7570955 rs746147193	672	T>A		No	ClinGen ExAC gnomAD
CA7570950 rs780803068	677	V>A		No	ClinGen ExAC TOPMed gnomAD
CA270723492 rs747991720	677	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7570951 COSM3401822 rs747991720	677	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs535620312 CA270723483	678	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535620312 CA7570949	678	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353446061 CA392530157	679	F>L		No	ClinGen gnomAD
CA392530149 rs1311883997	680	H>D		No	ClinGen gnomAD
CA270723471 rs1003389639	681	I>V		No	ClinGen TOPMed gnomAD
CA7570947 rs765982080	682	L>V		No	ClinGen ExAC gnomAD
rs757834276 CA7570946	687	E>Q		No	ClinGen ExAC gnomAD
CA7570945 rs750125230	688	N>K		No	ClinGen ExAC gnomAD
CA7570944 rs764899685	689	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7570943 rs761405422	690	V>A		No	ClinGen ExAC TOPMed gnomAD
CA270723452 rs901449727	692	L>P		No	ClinGen Ensembl
TCGA novel	692	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs906413685 CA270723450	693	L>S		No	ClinGen TOPMed
CA7570941 rs374643853	694	L>I		No	ClinGen ESP ExAC gnomAD
rs1425992593 CA392530056	695	P>S		No	ClinGen gnomAD
CA392530052 rs761308381	696	T>A		No	ClinGen ExAC gnomAD
CA7570940 rs761308381	696	T>S		No	ClinGen ExAC gnomAD
rs1175129368 CA392530042	697	P>L		No	ClinGen TOPMed gnomAD
CA392530037 rs1457001811	698	L>P		No	ClinGen gnomAD
CA392530032 rs1200032387	699	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	700	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568484297 CA7570938	701	V>I		No	ClinGen ExAC gnomAD
rs759654585 CA7570937	703	S>F		No	ClinGen ExAC gnomAD
rs781048724 CA7570933	708	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA7570934 rs372698012	708	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7570935 rs771305457	708	Y>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	710	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768332710 CA7570932	710	G>S		No	ClinGen ExAC gnomAD
CA7570931 rs150040344	710	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779834106 CA7570930	711	E>G		No	ClinGen ExAC gnomAD
CA7570929 rs757944075	712	V>A		No	ClinGen ExAC gnomAD
CA392529906 rs1158789840	715	R>I		No	ClinGen gnomAD
CA392529895 rs1440671646	716	A>S		No	ClinGen gnomAD
rs1180113093 CA392529857	718	S>G		No	ClinGen TOPMed gnomAD
CA7570926 rs778336069	718	S>N		No	ClinGen ExAC gnomAD
rs756905713 CA7570925	719	T>A		No	ClinGen ExAC gnomAD
rs753425468 CA7570924 COSM1232652	719	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA392529824 rs1489395763	720	V>M		No	ClinGen gnomAD
rs764575441 CA7570923	721	E>K		No	ClinGen ExAC gnomAD
TCGA novel	723	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204180907 CA392529770	723	K>T		No	ClinGen Ensembl
rs758005486 CA270723353	725	L>V		No	ClinGen Ensembl
rs570420538 CA7570920	726	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs28470860 CA270723319	727	L>V		No	ClinGen Ensembl
CA392529659 rs1330608459	730	S>I		No	ClinGen TOPMed gnomAD
CA392529653 rs1595796037	730	S>R		No	ClinGen Ensembl
rs760076081 CA7570918	732	T>A		No	ClinGen ExAC gnomAD
rs760076081 CA392529630	732	T>P		No	ClinGen ExAC gnomAD
rs774589473 CA7570917	734	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	735	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758403168 CA270723286	737	L>P		No	ClinGen TOPMed gnomAD
rs771070519 CA7570916	738	S>A		No	ClinGen ExAC gnomAD
CA270723282 rs771070519	738	S>P		No	ClinGen ExAC gnomAD
rs763335772 CA7570915	742	L>Q		No	ClinGen ExAC gnomAD
COSM361802 CA270723270 rs1045073840	743	A>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA270723269 rs949285279	745	P>S		No	ClinGen gnomAD
rs1160092001 CA392529447	746	I>V		No	ClinGen gnomAD
rs773294497 CA7570914	747	T>A		No	ClinGen ExAC gnomAD
CA392529440 rs773294497	747	T>S		No	ClinGen ExAC gnomAD
CA7570913 rs768544774	748	E>A		No	ClinGen ExAC gnomAD
TCGA novel	749	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570912 rs746750448	750	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1259642452 CA392529407	752	Q>R		No	ClinGen gnomAD
rs372174379 CA7570910	753	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745736667 CA7570909	753	G>V		No	ClinGen ExAC TOPMed gnomAD
rs375032585 CA7570908	755	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA270723242 rs987924773	757	I>N		No	ClinGen gnomAD
rs987924773 CA392529375	757	I>S		No	ClinGen gnomAD
CA392529376 rs987924773	757	I>T		No	ClinGen gnomAD
CA7570906 rs753574174	757	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777256458 CA7570905	759	F>I		No	ClinGen ExAC gnomAD
CA7570904 rs755748924	759	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA7570903 rs753029164	760	S>A		No	ClinGen ExAC gnomAD
CA7570901 rs755550837	761	E>*		No	ClinGen ExAC gnomAD
CA392529338 rs1185536927	763	N>D		No	ClinGen TOPMed
TCGA novel	763	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570900 rs752110952	764	D>G		No	ClinGen ExAC TOPMed gnomAD
CA392529327 rs752110952	764	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7570898 rs762919554	766	I>M		No	ClinGen ExAC gnomAD
CA7570899 rs766625106	766	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7570897 rs138555114	767	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7570895 rs762035879	768	R>T		No	ClinGen ExAC gnomAD
rs775151103 CA7570894	769	Q>*		No	ClinGen ExAC gnomAD
rs1021945285 CA270723217	770	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA270723216 rs925014237	771	K>R		No	ClinGen Ensembl
rs771849653 CA7570893	772	M>V		No	ClinGen ExAC gnomAD
rs1595795912 CA392529257	774	I>M		No	ClinGen Ensembl
rs1402820210 CA392529249	776	K>E		No	ClinGen gnomAD
CA7570892 rs569519028	776	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7570891 rs202146135	777	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA392529219 rs1202395661	778	M>L		No	ClinGen gnomAD
rs764406738	778	M>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA392529213 rs1566986080	778	M>T		No	ClinGen Ensembl
rs1409086819 COSM1517450 CA392529198	779	Q>P	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7570889 rs150903344	780	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777292253 CA392529172	781	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777292253 CA7570887	781	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	782	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392529154 rs1291944734	782	P>L		No	ClinGen gnomAD
rs267607178 CA392529142	783	S>L		No	ClinGen gnomAD
CA392529138 rs1334406422	784	R>*		No	ClinGen gnomAD
CA392529140 rs1334406422	784	R>G		No	ClinGen gnomAD
rs150548151 CA392529104	786	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755382181 CA7570883	787	D>E		No	ClinGen ExAC gnomAD
CA7570884 rs370789138	787	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287588031 CA392529090	788	A>T		No	ClinGen TOPMed
rs1488327231 CA392529084	788	A>V		No	ClinGen TOPMed
rs752161762 CA7570882	789	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1425754840 CA392529064	790	L>F		No	ClinGen gnomAD
TCGA novel	790	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392529054 rs1161381039	791	T>A		No	ClinGen TOPMed gnomAD
CA392529056 rs1161381039	791	T>P		No	ClinGen TOPMed gnomAD
CA7570880 rs758899508	792	I>K		No	ClinGen ExAC TOPMed gnomAD
CA7570879 rs200326734	792	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270723168 rs758899508	792	I>R		No	ClinGen ExAC TOPMed gnomAD
rs766963591 CA7570881	792	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	793	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570878 rs765292193	794	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7570877 rs776820145	794	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7570876 rs776820145	794	T>R		No	ClinGen ExAC TOPMed gnomAD
CA7570875 rs147252875	795	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7570874 rs147252875	795	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	796	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570871 rs752914562	797	L>*		No	ClinGen ExAC gnomAD
rs143898711 CA7570870	797	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1414558946 CA7570872	797	L>M		No	ClinGen TOPMed
rs1271901148 CA392528934	798	F>I		No	ClinGen gnomAD
TCGA novel	798	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	799	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770874588 CA7570869	799	L>Q		No	ClinGen ExAC gnomAD
rs1243766435 CA392528871	801	C>Y		No	ClinGen TOPMed
TCGA novel	803	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772603639 COSM701004 CA7570867	806	G>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769346017 CA7570866	807	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7570864 rs780970190	808	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780970190 CA7570865	808	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA7570863 rs755433547	809	K>N		No	ClinGen ExAC gnomAD
rs747411131 CA7570862	810	D>E		No	ClinGen ExAC gnomAD
CA7570861 rs780518430	811	L>F		No	ClinGen ExAC gnomAD
TCGA novel	811	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210347576 CA392528605	814	L>H		No	ClinGen TOPMed
rs1268476894 CA392528621	814	L>V		No	ClinGen gnomAD
CA7570859 rs750935469	816	I>L		No	ClinGen ExAC gnomAD
CA392528578 rs1179489976	816	I>N		No	ClinGen gnomAD
rs191971924 CA7570858 CA270723078	817	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757337641 CA7570857	818	H>Y		No	ClinGen ExAC gnomAD
CA270723062 rs905299246	819	L>P		No	ClinGen Ensembl
CA270723053 rs1045041743 COSM434038	820	N>S	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA392528378 rs751371624	826	G>C		No	ClinGen ExAC TOPMed gnomAD
rs751371624 CA7570853	826	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1308166485 CA392528357	827	P>L		No	ClinGen gnomAD
rs766133690 CA7570852	828	I>V		No	ClinGen ExAC gnomAD
rs978018329 CA270723037	829	S>P		No	ClinGen TOPMed
COSM962890 CA392528329 rs1378495359	829	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	831	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570849 rs150164663	835	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA392528201 rs1566985748	836	E>K		No	ClinGen Ensembl
CA7570848 rs776242458	837	D>E		No	ClinGen ExAC gnomAD
TCGA novel	837	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867047481 CA270723012	840	S>L		No	ClinGen Ensembl
rs746591529 CA7570845	842	M>I		No	ClinGen ExAC gnomAD
rs780630559 CA7570844	843	L>F		No	ClinGen ExAC gnomAD
CA7570843 rs772471387	844	P>L		No	ClinGen ExAC gnomAD
rs1336304247 CA392528060	845	G>D		No	ClinGen TOPMed
rs1190722777 CA392528063	845	G>S		No	ClinGen gnomAD
CA392528051 rs1441368455	846	W>*		No	ClinGen TOPMed
CA392528037 rs1277307249	848	L>S		No	ClinGen TOPMed
CA7570842 rs746410865	849	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	852	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	852	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570841 rs779440636	853	M>V		No	ClinGen ExAC gnomAD
CA392527993 rs757660889 COSM434037	854	I>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7570840 rs757660889	854	I>T		No	ClinGen ExAC gnomAD
CA392527957 rs777768872	859	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7570838 rs777768872	859	G>E		No	ClinGen ExAC TOPMed gnomAD
rs202019287 CA7570837	860	V>I		No	ClinGen ExAC gnomAD
rs925097786 CA270722958	862	L>F		No	ClinGen gnomAD
rs935153869 CA270722966	862	L>I		No	ClinGen Ensembl
rs1298700871 CA392527923	865	R>G		No	ClinGen gnomAD
CA392527921 rs1218183169	865	R>K		No	ClinGen TOPMed gnomAD
CA392527917 rs1367682232	865	R>S		No	ClinGen TOPMed gnomAD
CA270722952 rs540230903	866	K>E		No	ClinGen ExAC TOPMed gnomAD
rs540230903 CA7570836	866	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA7570833 rs750368032	869	D>E		No	ClinGen ExAC TOPMed gnomAD
rs762791472 CA7570834	869	D>G		No	ClinGen ExAC gnomAD
CA270722936 rs931723471	870	L>F		No	ClinGen Ensembl
CA392527876 rs1566985601	872	D>A		No	ClinGen Ensembl
CA392527862 rs1357689898	874	Y>H		No	ClinGen gnomAD
rs761795659 CA7570831	874	Y>S		No	ClinGen ExAC gnomAD
rs76886815 CA270722899	875	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7570830 rs76886815	875	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	875	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	876	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392527844 COSM1665007 rs1231315247	877	T>A	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1479038660 CA392527840	878	L>I		No	ClinGen TOPMed
CA7570829 rs768276255	880	N>D		No	ClinGen ExAC gnomAD
rs775185617 CA7570827	882	V>F		No	ClinGen ExAC TOPMed gnomAD
CA392527812 rs775185617	882	V>I		No	ClinGen ExAC TOPMed gnomAD
CA392527806 COSM1373532 rs1428901566	883	G>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA392527795 rs772361460	885	P>A		No	ClinGen ExAC gnomAD
CA392527791 rs1196348749	885	P>L		No	ClinGen TOPMed gnomAD
CA7570826 rs772361460	885	P>T		No	ClinGen ExAC gnomAD
rs868390829 CA270722829	887	G>R		No	ClinGen Ensembl
rs921714846 CA270722822	889	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746271301 CA7570825	892	C>F		No	ClinGen ExAC gnomAD
rs201086977 CA270722809	892	C>G		No	ClinGen Ensembl
TCGA novel	895	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867922373 CA270722798	895	L>F		No	ClinGen Ensembl
rs146417353 CA270722789	896	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs146417353 CA7570823	896	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs748421853 CA7570819	899	D>G		No	ClinGen ExAC TOPMed gnomAD
rs748421853 CA392527702	899	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7570818 rs781445007	900	T>I		No	ClinGen ExAC TOPMed gnomAD
CA392527695 rs781445007	900	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1383761514 CA392527689	901	I>M		No	ClinGen gnomAD
CA7570817 rs755115896	901	I>V		No	ClinGen ExAC gnomAD
rs1376692256 CA392527687	902	V>F		No	ClinGen TOPMed gnomAD
rs1376692256 CA392527686	902	V>I		No	ClinGen TOPMed gnomAD
rs764884282 CA7570815	906	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1247605417 CA392527636	909	F>C		No	ClinGen gnomAD
TCGA novel	909	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270722754 rs951690282	913	K>I		No	ClinGen TOPMed
rs753812237 CA7570813	913	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	913	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760231416 CA7570811	917	M>I		No	ClinGen ExAC gnomAD
rs1173441533 CA392527583	917	M>T		No	ClinGen TOPMed gnomAD
rs1264939668 CA392527585	917	M>V		No	ClinGen TOPMed gnomAD
CA392527567 COSM316553 rs1373493029	919	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA7570810 rs774819914	922	A>P		No	ClinGen ExAC gnomAD
rs767217476 CA7570809	923	C>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	925	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392527496 rs1390707442	928	S>C		No	ClinGen gnomAD
rs756063159 CA7570793	931	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1294614159 CA392527477	931	M>V		No	ClinGen TOPMed gnomAD
CA7570791 rs766868645	932	E>G		No	ClinGen ExAC gnomAD
rs181641456 CA7570792	932	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868868439 CA392527461	933	S>N		No	ClinGen TOPMed gnomAD
rs868868439 CA270721928 COSM1740160	933	S>T	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7570788 rs766783049	934	I>T		No	ClinGen ExAC gnomAD
CA7570789 rs773864751	934	I>V		No	ClinGen ExAC TOPMed gnomAD
rs773526326 CA7570786	935	H>R		No	ClinGen ExAC gnomAD
rs763277590 CA7570787	935	H>Y		No	ClinGen ExAC gnomAD
rs1490781559 CA392527428	936	N>S		No	ClinGen gnomAD
rs1490781559 CA392527430	936	N>T		No	ClinGen gnomAD
TCGA novel	937	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748547108 CA7570784	938	M>I		No	ClinGen ExAC gnomAD
rs1231231816 CA392527362	941	A>G		No	ClinGen gnomAD
rs1262687358 CA392527369	941	A>T		No	ClinGen gnomAD
rs1330592556 CA392527357	942	G>A		No	ClinGen TOPMed gnomAD
rs1330592556 CA392527358	942	G>E		No	ClinGen TOPMed gnomAD
rs950659582 CA270721829	942	G>R		No	ClinGen gnomAD
CA7570781 rs747303801	943	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7570780 rs142137749	945	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA392527301 CA392527304 rs1297929946	946	L>F		No	ClinGen gnomAD
rs772379047 CA7570779	948	M>I		No	ClinGen ExAC gnomAD
CA392527271 rs1447888760	949	S>A		No	ClinGen TOPMed gnomAD
CA7570777 rs777649689	950	S>G		No	ClinGen ExAC TOPMed gnomAD
rs756079640 CA7570776	951	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7570775 rs559788184	952	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392527225 rs1317095423	953	S>I		No	ClinGen TOPMed
rs780815533 CA7570774	953	S>R		No	ClinGen ExAC gnomAD
CA7570772 COSM1678477 rs751269504	956	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7570770 rs375717196	956	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs748169750 CA7570749	959	K>E		No	ClinGen ExAC gnomAD
rs1297125725 CA392526804	959	K>N		No	ClinGen TOPMed
CA392526794 rs1282741972	961	E>Q		No	ClinGen gnomAD
CA7570747 rs754909301	964	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1315424319 CA392526773	964	V>I		No	ClinGen TOPMed
rs751091534 CA7570746	965	P>R		No	ClinGen ExAC TOPMed gnomAD
rs758052193 CA7570744	966	E>K		No	ClinGen ExAC gnomAD
rs1318754929 CA392526752	967	A>G		No	ClinGen TOPMed
rs1241161469 CA392526743	968	D>E		No	ClinGen TOPMed
CA7570743 rs750073948	972	L>V		No	ClinGen ExAC gnomAD
rs148556969 CA7570742	972	L>W		No	ClinGen ESP ExAC gnomAD
CA7570741 rs372328610	973	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867089984 COSM1708189 CA270719425	976	S>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA392526690 rs1313949313	977	C>F		No	ClinGen gnomAD
rs1386157965 CA392526684	978	W>*		No	ClinGen gnomAD
CA7570738 rs143816093	978	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7570737 rs772270413	979	R>K		No	ClinGen ExAC gnomAD
rs774695862 CA7570736	980	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774695862 CA7570735	980	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1205862024 CA392526668	981	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs368814157 CA7570733	981	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7570732 CA7570731 rs372324887	983	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs533111653 CA7570729	984	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs746882883 CA392526648	984	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs746882883 CA7570730	984	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7570712 rs747008911	988	A>T		No	ClinGen ExAC gnomAD
rs1331446648 CA392525806	993	L>P		No	ClinGen TOPMed
CA7570711 rs775373500	994	L>M		No	ClinGen ExAC TOPMed gnomAD
rs771955935 COSM962884 CA7570710	995	A>V	Variant assessed as Somatic; 0.0 impact. endometrium stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7570708 rs778428732	996	E>V		No	ClinGen ExAC gnomAD
rs182109530 CA270714433	999	Q>*		No	ClinGen 1000Genomes
rs1008272920 CA270714430	999	Q>P		No	ClinGen Ensembl
CA7570705 rs374293761	1000	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1002	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1002	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1003	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1004	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570704 rs756522500	1006	K>N		No	ClinGen ExAC gnomAD
rs753298515 CA7570703	1008	P>S		No	ClinGen ExAC gnomAD
rs371227564 CA7570702	1009	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229505316 CA392525698	1010	N>H		No	ClinGen TOPMed gnomAD
CA7570700 rs141044665	1010	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7570699 rs766420119	1011	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1595783088 CA392525683	1012	Q>E		No	ClinGen Ensembl
rs1285096716 CA392525654	1016	M>K		No	ClinGen gnomAD
CA392525657 rs1324244699	1016	M>V		No	ClinGen TOPMed gnomAD
rs1467125762 CA392525623	1020	G>A		No	ClinGen TOPMed
rs773472779 CA7570697	1022	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1349973450 CA392525582	1025	K>N		No	ClinGen TOPMed gnomAD
CA7570696 rs377461461	1026	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760492063 CA7570695	1032	E>*		No	ClinGen ExAC gnomAD
TCGA novel	1033	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775213629 CA7570694	1039	L>*		No	ClinGen ExAC gnomAD
CA392525479 rs1470331591	1040	Q>H		No	ClinGen TOPMed gnomAD
rs202041109 CA270714402	1040	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA270714398 rs1002144473	1041	C>S		No	ClinGen TOPMed gnomAD
rs1566976134 CA392525475	1041	C>Y		No	ClinGen Ensembl
CA7570693 rs772007019	1042	V>G		No	ClinGen ExAC TOPMed gnomAD
rs554569675 CA7570691	1045	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA392525448 rs1208673010	1045	T>S		No	ClinGen TOPMed
rs147236172 CA7570689	1046	L>S		No	ClinGen ESP ExAC gnomAD
CA7570688 rs147236172	1046	L>W		No	ClinGen ESP ExAC gnomAD
rs111575879 CA7570687	1048	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748547376 CA7570686	1049	Q>E		No	ClinGen ExAC gnomAD
rs747522802 CA7570649	1051	P>S		No	ClinGen ExAC TOPMed gnomAD
CA392525400 rs1487725894	1052	V>G		No	ClinGen TOPMed gnomAD
rs1329131992 CA392525386	1054	P>L		No	ClinGen TOPMed
CA7570646 rs750527537	1055	V>I		No	ClinGen ExAC gnomAD
CA392525362 rs1184899238	1058	D>H		No	ClinGen Ensembl
rs1184899238 CA392525360	1058	D>Y		No	ClinGen Ensembl
TCGA novel	1059	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757537335 CA7570644	1060	N>D		No	ClinGen ExAC gnomAD
rs532432489 CA7570642	1062	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7570640 rs372851821	1063	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs866170874 CA270707569	1064	A>T		No	ClinGen Ensembl
CA392525315 rs1471589075	1065	N>D		No	ClinGen TOPMed
CA270707563 rs867695726	1067	Q>*		No	ClinGen gnomAD
CA392525300 rs867695726	1067	Q>K		No	ClinGen gnomAD
CA7570634 rs549997856	1069	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA270707559 rs549997856	1069	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM3816348 CA7570633 rs768943892	1070	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs775656622 CA7570630	1071	D>G		No	ClinGen ExAC gnomAD
rs148695841 CA7570632	1071	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1071	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392525264 rs1331946395	1072	M>T		No	ClinGen TOPMed
rs1367114510 CA392525267	1072	M>V		No	ClinGen gnomAD
CA270707544 rs994605151	1073	P>L		No	ClinGen Ensembl
CA270707547 rs866747047	1073	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA392525232 rs1363812323	1077	A>T		No	ClinGen gnomAD
CA7570625 rs749550697	1078	L>S		No	ClinGen ExAC gnomAD
rs1268062118 CA392525220	1079	E>K		No	ClinGen gnomAD
CA7570624 rs778000119	1079	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1081	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA270707534 rs753315302	1083	S>N		No	ClinGen TOPMed
CA392525180 rs150850792	1084	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7570623 rs150850792	1084	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1084	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767964266 CA392525161	1086	E>*		No	ClinGen ExAC gnomAD
rs767964266 CA7570591	1086	E>K		No	ClinGen ExAC gnomAD
CA392525158 rs1475610281	1086	E>V		No	ClinGen gnomAD
TCGA novel	1088	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7570590 rs759923850	1088	R>S		No	ClinGen ExAC gnomAD
TCGA novel	1090	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1091	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392525115 rs1206157811	1092	W>*		No	ClinGen gnomAD
CA392525118 rs1243773411	1092	W>L		No	ClinGen gnomAD
rs771442935 CA7570588	1094	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1100	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748454326 CA7570584	1101	V>L		No	ClinGen ExAC gnomAD
rs748454326 CA7570583	1101	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs569638037 CA270706093	1103	S>S		No	ClinGen Ensembl

No associated diseases with Q3MJ13

9 regional properties for Q3MJ13

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	Cytoplasmic vesicle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
enamel mineralization	The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel.
extracellular matrix disassembly	A process that results in the breakdown of the extracellular matrix.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O14727	APAF1	Apoptotic protease-activating factor 1	Homo sapiens (Human)	EV
O88879	Apaf1	Apoptotic protease-activating factor 1	Mus musculus (Mouse)	EV
Q9EPV5	Apaf1	Apoptotic protease-activating factor 1	Rattus norvegicus (Rat)	SS
Q9I9H8	apaf1	Apoptotic protease-activating factor 1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MRTSLQAVAL	WGQKAPPHSI	TAIMITDDQR	TIVTGSQEGQ	LCLWNLSHEL	KISAKELLFG
70	80	90	100	110	120
HSASVTCLAR	ARDFSKQPYI	VSAAENGEMC	VWNVTNGQCM	EKATLPYRHT	AICYYHCSFR
130	140	150	160	170	180
MTGEGWLLCC	GEYQDVLIID	AKTLAVVHSF	RSSQFPDWIN	CMCIVHSMRI	QEDSLLVVSV
190	200	210	220	230	240
AGELKVWDLS	SSINSIQEKQ	DVYEKESKFL	ESLNCQTIRF	CTYTERLLLV	VFSKCWKVYD
250	260	270	280	290	300
YCDFSLLLTE	VSRNGQFFAG	GEVIAAHRIL	IWTEDGHSYI	YQLLNSGLSK	SIYPADGRVL
310	320	330	340	350	360
KETIYPHLLC	STSVQENKEQ	SRPFVMGYMN	ERKEPFYKVL	FSGEVSGRIT	LWHIPDVPVS
370	380	390	400	410	420
KFDGSPREIP	VTATWTLQDN	FDKHDTMSQS	IIDYFSGLKD	GAGTAVVTSS	EYIPSLDKLI
430	440	450	460	470	480
CGCEDGTIII	TQALNAAKAR	LLEGGSLVKD	SPPHKVLKGH	HQSVTSLLYP	HGLSSKLDQS
490	500	510	520	530	540
WMLSGDLDSC	VILWDIFTEE	ILHKFFLEAG	PVTSLLMSPE	KFKLRGEQII	CCVCGDHSVA
550	560	570	580	590	600
LLHLEGKSCL	LHARKHLFPV	RMIKWHPVEN	FLIVGCADDS	VYIWEIETGT	LERHETGERA
610	620	630	640	650	660
RIILNCCDDS	QLVKSVLPIA	SETLKHKSIE	QRSSSPYQLG	PLPCPGLQVE	SSCKVTDAKF
670	680	690	700	710	720
CPRPFNVLPV	KTKWSNVGFH	ILLFDLENLV	ELLLPTPLSD	VDSSSSFYGG	EVLRRAKSTV
730	740	750	760	770	780
EKKTLTLRKS	KTACGPLSAE	ALAKPITESL	AQGDNTIKFS	EENDGIKRQK	KMKISKKMQP
790	800	810	820	830	840
KPSRKVDASL	TIDTAKLFLS	CLLPWGVDKD	LDYLCIKHLN	ILKLQGPISL	GISLNEDNFS
850	860	870	880	890	900
LMLPGWDLCN	SGMIKDYSGV	NLFSRKVLDL	SDKYTATLPN	QVGIPRGLEN	NCDSLRESDT
910	920	930	940	950	960
IVYLLSRLFL	VNKLVNMPLE	LACRVGSSFR	MESIHNKMRG	AGNDILNMSS	FYSCLRNGKN
970	980	990	1000	1010	1020
ESHVPEADLS	LLKLISCWRD	QSVQVTEAIQ	AVLLAEVQQH	MKSLGKIPVN	SQPVSMAENG
1030	1040	1050	1060	1070	1080
NCEMKQMLPK	LEWTEELELQ	CVRNTLPLQT	PVSPVKHDSN	SNSANFQDVE	DMPDRCALEE
1090	1100
SESPGEPRHH	SWIAKVCPCK	VS