AiPD: Autoinhibited Protein Database

Q15678

Gene name	PTPN14 (PEZ, PTPD2)
Protein name	Tyrosine-protein phosphatase non-receptor type 14
Names	Protein-tyrosine phosphatase pez
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5784
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

285-354 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

285-354 (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

4 structures for Q15678

Entry ID	Method	Resolution	Chain	Position	Source
2BZL	X-ray	165 A	A	886-1187	PDB
6IWD	X-ray	180 A	A	886-1187	PDB
6JJW	X-ray	240 A	U	428-455	PDB
AF-Q15678-F1	Predicted				AlphaFoldDB

965 variants for Q15678

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1558092113 RCV000735851	135	L>missing	Lymphedema-posterior choanal atresia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs766589564 CA1389609	2	P>A		No	ClinGen ExAC gnomAD
CA1389606 rs768321673	7	L>F		No	ClinGen ExAC gnomAD
rs529225480 CA1389605	8	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1163977676 CA344898682	8	R>L		No	ClinGen gnomAD
CA344898675 rs745738475	10	T>A		No	ClinGen ExAC gnomAD
CA1389601 rs372985987	10	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745738475 CA1389602	10	T>S		No	ClinGen ExAC gnomAD
CA344898669 rs1169887985	11	R>L		No	ClinGen Ensembl
CA344898671 rs1208190830	11	R>W		No	ClinGen TOPMed gnomAD
CA1389600 rs770580886	12	R>C		No	ClinGen ExAC TOPMed gnomAD
CA37566103 rs201853931	12	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747289324 CA1389598	13	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	14	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572016840 CA344898652	14	N>S		No	ClinGen Ensembl
COSM1290108 CA1389596 rs758671755	15	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA344898637 rs1308483071	17	S>G		No	ClinGen gnomAD
rs779134274 CA1389594	17	S>N		No	ClinGen ExAC gnomAD
rs755550653 CA1389593	18	K>R		No	ClinGen ExAC gnomAD
rs1394555662 CA344898624	19	N>H		No	ClinGen TOPMed
CA37566102 rs779454963	19	N>S		No	ClinGen Ensembl
TCGA novel	19	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344898609 rs1303629286	21	F>I		No	ClinGen gnomAD
rs1303629286 CA344898608	21	F>L		No	ClinGen gnomAD
CA1389592 rs754342611	23	T>I		No	ClinGen ExAC gnomAD
CA1389591 COSM1222531 rs201332095	24	R>Q	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA344898577 rs1365801352	26	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM903726 CA1389589 rs750774630	26	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1389587 rs762584931	28	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs543676404 CA1389586	30	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA344898544 rs757605436	31	N>K		No	ClinGen TOPMed
CA1389585 rs151121546	31	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759490690 CA1389584	32	V>A		No	ClinGen ExAC gnomAD
rs777351477 CA1389581	34	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777612164 CA1389580	35	C>W		No	ClinGen ExAC TOPMed gnomAD
rs772489574 CA344898513	36	T>K		No	ClinGen ExAC gnomAD
rs772489574 CA1389579	36	T>M		No	ClinGen ExAC gnomAD
rs1406647814 CA344898504	38	S>A		No	ClinGen gnomAD
TCGA novel	39	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389575 rs200399097	39	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780472035 CA1389574	42	T>P		No	ClinGen ExAC gnomAD
rs752296242 CA1389569	51	A>S		No	ClinGen ExAC gnomAD
CA1389568 rs764757830	51	A>V		No	ClinGen ExAC gnomAD
rs1572016711 CA344898391	55	E>G		No	ClinGen Ensembl
rs776185401 CA1389566	57	R>*		No	ClinGen ExAC gnomAD
CA1389567 rs776185401	57	R>G		No	ClinGen ExAC gnomAD
CA37566096 rs755709746	57	R>P		No	ClinGen ExAC gnomAD
CA1389565 rs755709746	57	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1412318782	59	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs781692713 CA1389533	59	T>A		No	ClinGen ExAC gnomAD
rs6661410 CA1389532	59	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747434060 CA1389531	65	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1445675479 CA344898306	66	F>V		No	ClinGen gnomAD
rs1387484933 CA344898275	70	S>N		No	ClinGen gnomAD
rs1184976049 CA344898258	72	Q>R		No	ClinGen gnomAD
CA344898247 rs1231768356	74	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754591855 CA1389529	74	R>Q		No	ClinGen ExAC gnomAD
rs775195710 CA37563345	75	W>L		No	ClinGen Ensembl
TCGA novel	76	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs956920293 CA37563342	76	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	77	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359805727 CA344898223	78	L>M		No	ClinGen gnomAD
rs765832822 CA1389527	78	L>P		No	ClinGen ExAC gnomAD
CA1389526 rs755612369	81	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	83	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140596318 CA1389525	83	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs767617692 CA1389524	84	K>R		No	ClinGen ExAC gnomAD
rs1348635970 CA344898177	85	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	87	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303010908 CA344898143	89	F>L		No	ClinGen gnomAD
rs77713106 CA1389522 RCV000946555	90	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763887958 CA1389521	91	N>H		No	ClinGen ExAC gnomAD
rs1023660367 CA37563318	91	N>S		No	ClinGen TOPMed
CA1389520 rs775740161	93	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769874591 CA1389518	93	P>L		No	ClinGen ExAC TOPMed gnomAD
CA344898123 rs775740161	93	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775740161 CA1389519	93	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1177268412 CA344898114	94	L>F		No	ClinGen gnomAD
rs1470847617 CA344898112	95	L>F		No	ClinGen gnomAD
CA344898113 rs1470847617	95	L>V		No	ClinGen gnomAD
CA1389517 rs759708590	96	F>L		No	ClinGen ExAC gnomAD
rs1572008726 CA344898076	100	M>T		No	ClinGen Ensembl
rs776681158 CA1389516	102	Y>C		No	ClinGen ExAC gnomAD
rs1242544329 CA344898052	103	V>A		No	ClinGen TOPMed
rs771496321 CA1389515	104	P>R		No	ClinGen ExAC gnomAD
CA37563306 rs962182089	104	P>S		No	ClinGen Ensembl
rs747450431 CA1389514	105	N>S		No	ClinGen ExAC gnomAD
CA1389513 rs778125245	106	V>M	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344897985 rs772437258	113	A>G		No	ClinGen ExAC gnomAD
rs772437258 CA1389512	113	A>V		No	ClinGen ExAC gnomAD
CA344897983 rs1161362278	114	T>A		No	ClinGen TOPMed
CA1389490 rs377107337	115	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344817486 rs1386394826	116	Y>N		No	ClinGen TOPMed
rs1403276871 CA344817450	118	Y>C		No	ClinGen gnomAD
TCGA novel	122	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344817348 rs1216890427	124	K>E		No	ClinGen TOPMed
CA344817332 rs1278051669	125	D>H		No	ClinGen TOPMed
rs745456375 CA1389486	128	E>K		No	ClinGen ExAC gnomAD
rs1427876250 CA344817265	130	R>G		No	ClinGen gnomAD
CA1389485 rs780867837	130	R>Q		No	ClinGen ExAC gnomAD
CA344817247 rs1188096687	132	R>G		No	ClinGen gnomAD
CA1389484 rs139895368	132	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1242835470 CA344817239	133	C>R		No	ClinGen TOPMed gnomAD
rs572475311 CA1389483	133	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	135	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249723264 CA344817163	138	V>M		No	ClinGen gnomAD
rs1308653307 CA344817146	139	I>S		No	ClinGen gnomAD
CA344817147 rs1308653307	139	I>T		No	ClinGen gnomAD
CA1389479 rs368851967	140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs533046202 CA1389480	140	R>W		No	ClinGen ExAC TOPMed gnomAD
rs755471806 CA1389477	143	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1389478 rs755471806	143	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1024564971 CA37395656	145	A>T		No	ClinGen Ensembl
rs568375121 CA1389474	146	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1389475 rs760788549	146	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1389448 rs775984118	149	D>G		No	ClinGen ExAC gnomAD
CA1389447 rs770773880	150	F>S		No	ClinGen ExAC TOPMed gnomAD
CA1389446 rs746576679	152	D>E		No	ClinGen ExAC gnomAD
CA344816441 rs1225234098	152	D>V		No	ClinGen gnomAD
TCGA novel	157	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344816363 rs1328850368	157	D>H		No	ClinGen TOPMed
rs1237891647 CA344816328	158	S>F		No	ClinGen gnomAD
rs772792425 CA1389445	159	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
VAR_035849	159	Q>E	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1040143388 CA37392930	160	D>N		No	ClinGen TOPMed gnomAD
CA1389444 rs771437100	162	L>F		No	ClinGen ExAC gnomAD
CA1389443 rs748149541	163	R>G		No	ClinGen ExAC gnomAD
rs1303530484 CA344816236	164	E>Q		No	ClinGen TOPMed gnomAD
CA1389442 rs543335039	164	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA37392884 rs910227014	166	V>L		No	ClinGen Ensembl
rs1158148517 CA344816124	170	M>T		No	ClinGen gnomAD
COSM339388 CA344816133 rs1368165379	170	M>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA37385313 rs200017090	171	D>G		No	ClinGen 1000Genomes
CA344815031 rs1474731103	171	D>H		No	ClinGen gnomAD
CA37385312 rs868799535	173	A>V		No	ClinGen TOPMed
TCGA novel	174	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781316965 CA1389418	175	E>K		No	ClinGen ExAC gnomAD
CA1389417 rs757485231	176	E>D		No	ClinGen ExAC gnomAD
CA1389416 rs751656933	177	A>T		No	ClinGen ExAC gnomAD
rs777931812 CA344814989	178	V>I		No	ClinGen ExAC TOPMed gnomAD
rs777931812 CA1389415	178	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	180	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765729691 CA344814974	180	E>D		No	ClinGen ExAC TOPMed gnomAD
rs773274066 CA1389414	180	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753206603 CA1389413	180	E>V		No	ClinGen ExAC gnomAD
CA344814973 rs1337419750	181	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	183	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37385231 rs540862568	183	T>S		No	ClinGen gnomAD
CA1389409 rs767136191	186	V>A		No	ClinGen ExAC gnomAD
rs373567360 CA1389407	188	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	189	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389406 rs55801232	189	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1389405 rs748532455	190	H>R		No	ClinGen ExAC gnomAD
CA1389404 rs775443271	192	A>V		No	ClinGen ExAC gnomAD
TCGA novel	193	H>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389402 rs745706524	193	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773610604 CA1389380	195	G>V		No	ClinGen ExAC gnomAD
rs1412200141 CA344814861	196	I>V		No	ClinGen gnomAD
CA1389379 rs772402224	199	A>T		No	ClinGen ExAC gnomAD
CA1389378 rs748300042	201	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748300042 CA344814821	201	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1389377 rs779048293	206	I>V		No	ClinGen ExAC gnomAD
rs755449161 CA1389376	207	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1406543993 CA344814759	209	V>I		No	ClinGen TOPMed gnomAD
rs780310335 CA1389374	210	E>G		No	ClinGen ExAC gnomAD
rs145391227 CA1389373	211	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1389372 rs367585938	211	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145391227 CA344814747	211	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1190445961 CA344814724	214	G>A		No	ClinGen TOPMed
CA1389371 rs763791314	215	F>I		No	ClinGen ExAC gnomAD
TCGA novel	218	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761855974 CA37383901	222	V>I		No	ClinGen Ensembl
TCGA novel	225	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768735006 CA1389342	225	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	226	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389341 rs763147498	228	N>D		No	ClinGen ExAC gnomAD
rs1408890299 CA344814310	229	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1360886869 CA344814305	230	V>A		No	ClinGen gnomAD
CA1389340 rs775425639	236	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA344814242 rs1189510333 COSM678664	237	M>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA344814246 rs1442539632	237	M>T		No	ClinGen TOPMed
CA1389339 rs770288131	237	M>V		No	ClinGen ExAC gnomAD
CA1389338 rs746314677	239	I>F		No	ClinGen ExAC TOPMed gnomAD
rs781557835 CA1389337	241	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1389334 rs549847772	245	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1242588140 CA344814181	245	I>T		No	ClinGen gnomAD
CA1389335 rs549847772	245	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs187138225 CA1389333	246	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344814174 rs1484523507	247	R>G		No	ClinGen gnomAD
CA37377570 rs894786547	247	R>K		No	ClinGen Ensembl
CA1389332 rs753456960	249	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1254744553 CA344814105	255	N>D		No	ClinGen TOPMed
rs1351074708 CA344814098	256	D>N		No	ClinGen TOPMed gnomAD
rs1558083835 CA344814093	256	D>V		No	ClinGen Ensembl
CA1389306 rs781333762	257	M>I		No	ClinGen ExAC gnomAD
CA1389304 rs751371890	259	N>S		No	ClinGen ExAC
CA1389303 rs763737003	260	I>M		No	ClinGen ExAC gnomAD
CA344814068 rs1364740276	260	I>V		No	ClinGen gnomAD
rs758667925 CA1389302	262	H>Y		No	ClinGen ExAC gnomAD
CA344814030 COSM903718 rs1158524710	265	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	266	T>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163107684 CA344814023	266	T>I		No	ClinGen TOPMed
CA1389300 rs765413797	268	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	269	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776681002 CA1389298	269	V>L		No	ClinGen ExAC TOPMed gnomAD
rs918372070 CA37374818	270	E>K		No	ClinGen TOPMed gnomAD
rs372638270 CA37374798	272	I>V		No	ClinGen ESP TOPMed
CA1389297 rs202003994	273	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	274	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389296 rs761022697	275	E>D		No	ClinGen ExAC TOPMed gnomAD
CA344813968 rs1210016787	275	E>G		No	ClinGen gnomAD
CA344813946 rs1364586620	278	A>V		No	ClinGen TOPMed
CA344813945 rs1258402565	279	L>F		No	ClinGen gnomAD
rs1227318018 CA344813924	281	H>Q		No	ClinGen gnomAD
rs1329761592 CA344813922	282	T>A		No	ClinGen gnomAD
rs1320692007 CA344813918	282	T>M		No	ClinGen TOPMed gnomAD
CA344813894 rs1187487988	284	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344813885 rs1270799193	285	I>T		No	ClinGen TOPMed
CA344813878 rs1370013259	286	E>G		No	ClinGen Ensembl
rs1571971031 CA344813856	289	K>R		No	ClinGen Ensembl
CA1389274 rs774793928	293	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1389275 rs57950654	293	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769639797 CA1389273	295	F>L		No	ClinGen ExAC TOPMed gnomAD
rs759251877 CA1389272	297	T>A		No	ClinGen ExAC gnomAD
CA1389271 rs776255185	298	R>Q		No	ClinGen ExAC gnomAD
rs371765337 COSM1668456 CA1389270	300	K>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1367674651 CA344813755	304	Q>L		No	ClinGen gnomAD
rs1367674651 CA344813757	304	Q>P		No	ClinGen gnomAD
CA1389269 rs746488009	305	N>D		No	ClinGen ExAC TOPMed gnomAD
CA37373871 rs368229778	306	K>E		No	ClinGen ESP
TCGA novel	309	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341157161 CA344813714	310	E>A		No	ClinGen gnomAD
CA37373862 rs990222976	310	E>K		No	ClinGen Ensembl
CA37371211 rs199872879	311	Q>R		No	ClinGen gnomAD
TCGA novel	313	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752408307 CA37371182	314	S>F		No	ClinGen Ensembl
CA344813665 rs1571968939	315	P>L		No	ClinGen Ensembl
CA1389245 rs748062297	316	P>S		No	ClinGen ExAC gnomAD
CA1389246 rs748062297	316	P>T		No	ClinGen ExAC gnomAD
CA1389244 rs768406459	317	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1026025956 CA37371079	317	P>R		No	ClinGen TOPMed
CA1389243 rs768406459	317	P>T		No	ClinGen ExAC TOPMed gnomAD
rs756297763 CA1389240	318	I>F		No	ClinGen ExAC gnomAD
TCGA novel	318	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261819782 CA344813653	318	I>S		No	ClinGen TOPMed
TCGA novel	319	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750538905 COSM3418726 CA1389239	320	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1452448513 CA344813639	321	Q>E		No	ClinGen gnomAD
CA37371044 rs142604891	322	P>H		No	ClinGen ESP TOPMed gnomAD
CA344813629 rs1222194068	322	P>S		No	ClinGen gnomAD
rs1230801309 CA344813624	323	T>A		No	ClinGen gnomAD
rs780659956 CA37371023	323	T>I		No	ClinGen TOPMed
CA344813625 rs1230801309	323	T>P		No	ClinGen gnomAD
CA344813618 rs752084020	324	W>*		No	ClinGen ExAC gnomAD
CA344813620 rs1343968353	324	W>R		No	ClinGen gnomAD
CA1389236 rs752084020	324	W>S		No	ClinGen ExAC gnomAD
rs997254846 CA344813605	326	R>*		No	ClinGen TOPMed gnomAD
CA37371005 rs997254846	326	R>G		No	ClinGen TOPMed gnomAD
rs764657012 CA1389235	326	R>Q		No	ClinGen ExAC gnomAD
rs1455134141 CA344813602	327	S>P		No	ClinGen gnomAD
rs761330469 CA1389210	330	P>S		No	ClinGen ExAC gnomAD
CA344813561 rs1314270911	331	R>S		No	ClinGen TOPMed gnomAD
rs773789738 CA1389209	332	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1389208 rs373278311	334	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769603309 CA1389205	336	I>L		No	ClinGen ExAC gnomAD
CA37367171 rs1054125940	338	P>R		No	ClinGen Ensembl
CA1389204 rs745612400	338	P>S		No	ClinGen ExAC gnomAD
rs747090290 CA344813509	340	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1389201 rs747090290	340	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1389200 rs777995212	342	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1201138146 CA344813483	344	C>R		No	ClinGen TOPMed gnomAD
CA344813473 rs1250451328	345	G>D		No	ClinGen TOPMed gnomAD
CA344813474 rs1490394538	345	G>S		No	ClinGen gnomAD
rs758886972 CA1389199	347	H>R		No	ClinGen ExAC gnomAD
rs1297233997 CA344813451	348	Y>C		No	ClinGen TOPMed
CA344813446 rs748664799	349	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1389197 rs779183230	349	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1389198 rs748664799	349	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1389196 COSM903717 rs143452475	351	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA344813429 rs1250056867	352	H>D		No	ClinGen gnomAD
CA344813426 rs1204965393	352	H>R		No	ClinGen gnomAD
CA344813386 rs1487322856	356	D>G		No	ClinGen gnomAD
CA37365266 rs1030527149	359	F>C		No	ClinGen Ensembl
RCV000880370 CA1389173 COSM32454 VAR_035850 rs112523432	360	H>P	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	360	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1338744 rs112523432 CA344813358	360	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA37365262 rs868014027	360	H>Y		No	ClinGen Ensembl
CA344813351 rs1393093490	361	G>E		No	ClinGen TOPMed
CA1389170 rs376896570	365	A>S		No	ClinGen ExAC TOPMed gnomAD
rs376896570 CA1389171	365	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1389168 rs373126145	368	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350831197 CA344813300	368	C>Y		No	ClinGen gnomAD
rs759542377 CA1389167	369	N>S		No	ClinGen ExAC gnomAD
rs1294353911 CA344813282	371	H>R		No	ClinGen gnomAD
CA1389166 rs753742596	371	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1389165 rs369899314	372	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	373	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344813249 rs1316312793 COSM1235186	376	L>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs761016825 CA1389164	378	Y>D		No	ClinGen ExAC gnomAD
CA1389163 rs773598210	380	N>H		No	ClinGen ExAC gnomAD
rs200568435 CA37365187	382	T>A		No	ClinGen gnomAD
CA1389161 rs761964158	382	T>S		No	ClinGen ExAC gnomAD
rs1191421477 CA344813186	385	N>K		No	ClinGen TOPMed gnomAD
rs774224839 CA1389160	385	N>S		No	ClinGen ExAC TOPMed gnomAD
CA37365155 rs190693661	388	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1389158 rs190693661	388	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430884084 CA344813163	389	C>Y		No	ClinGen TOPMed
CA344813153 rs372311664	390	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368855789 CA37365138	391	V>I		No	ClinGen ESP TOPMed gnomAD
CA1389154 rs777497605 COSM903715	394	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1443408979 CA344813122	395	N>T		No	ClinGen TOPMed gnomAD
CA1389153 rs757922379	397	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344813101 rs1458224924	398	N>K		No	ClinGen gnomAD
CA37365105 rs887499908	398	N>S		No	ClinGen TOPMed gnomAD
rs539446074 CA1389152	399	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539446074 CA344813096	399	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM209868 CA1389151 rs778272936	400	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA344813084 rs1378610100	401	Q>P		No	ClinGen gnomAD
CA344813079 rs1455345996	402	S>G		No	ClinGen gnomAD
rs1265312625 CA344813076	402	S>N		No	ClinGen TOPMed
rs755992014 CA1389147	403	F>C		No	ClinGen ExAC gnomAD
CA1389146 rs750124787	404	I>S		No	ClinGen ExAC gnomAD
rs928940880 CA37365080	405	Q>K		No	ClinGen Ensembl
rs767779808 CA1389145	405	Q>R		No	ClinGen ExAC gnomAD
CA1389144 rs761934022	406	A>S		No	ClinGen ExAC gnomAD
CA37362929 rs746776069	408	P>S		No	ClinGen TOPMed gnomAD
CA1389141 CA344813013 rs762982065	412	N>K		No	ClinGen ExAC gnomAD
rs764054189 CA1389142	412	N>S		No	ClinGen ExAC gnomAD
CA1389140 rs776001318	413	L>H		No	ClinGen ExAC TOPMed gnomAD
CA344812993 rs1296946191	415	I>M		No	ClinGen gnomAD
CA1389139 rs770228971	418	S>G		No	ClinGen ExAC gnomAD
rs141247660 CA344812977	418	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141247660 CA1389138 RCV000890506	418	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776855837 CA1389137	420	I>V		No	ClinGen ExAC gnomAD
rs771815955 COSM1338742 CA1389136	421	M>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs757598931 CA344812951	422	R>P		No	ClinGen gnomAD
rs757598931 CA37362895	422	R>Q		No	ClinGen gnomAD
CA1389135 rs747732994	422	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1167574005 CA344812940	424	D>G		No	ClinGen gnomAD
rs975792365 CA37362865	424	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA344812924 rs1571964417	426	I>T		No	ClinGen Ensembl
rs1425259254 CA344812927	426	I>V		No	ClinGen TOPMed
CA344812920 rs1185303382	427	P>T		No	ClinGen gnomAD
CA37362864 rs1015605584	429	H>Q		No	ClinGen TOPMed
CA1389130 rs756046885	430	R>Q		No	ClinGen ExAC gnomAD
rs780150449 CA1389131	430	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773073343 CA1389129	433	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1389128 rs150011976 COSM1581558	433	A>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1341505880 CA344812869	435	I>V		No	ClinGen TOPMed gnomAD
rs374978011 CA1389125	436	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1341661220 CA344812848	438	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs988857630 CA37362812	440	R>M		No	ClinGen Ensembl
rs775483848 CA1389123	441	P>S		No	ClinGen ExAC gnomAD
CA37362793 rs1007171906	442	T>A		No	ClinGen TOPMed
CA344812823 rs1306972265	442	T>I		No	ClinGen gnomAD
CA1389121 rs151194443	444	D>E		No	ClinGen ESP ExAC gnomAD
rs1242280205 CA344812812	444	D>G		No	ClinGen TOPMed
CA1389120 rs550116244	445	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1472417193 CA344812790	447	T>K		No	ClinGen gnomAD
CA344812774 rs1244400215	449	M>I		No	ClinGen Ensembl
rs368369053 CA1389119	450	R>C		No	ClinGen ESP ExAC gnomAD
rs373748699 CA1389118	450	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773895428 CA1389117	452	M>T		No	ClinGen ExAC gnomAD
CA344812742 rs1553260505	454	R>T		No	ClinGen Ensembl
rs768362212 CA1389116	456	I>L		No	ClinGen ExAC gnomAD
CA1389115 rs748809179	456	I>M		No	ClinGen ExAC gnomAD
TCGA novel	458	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779702256 CA1389114	459	T>A		No	ClinGen ExAC TOPMed gnomAD
CA344812698 rs1209378969	461	S>N		No	ClinGen gnomAD
rs375333577 CA37362688	462	Q>R		No	ClinGen Ensembl
rs1295608324 CA344812679	463	S>R		No	ClinGen gnomAD
CA1389112 rs745765621	464	Q>R		No	ClinGen ExAC
rs757027668 CA1389110	471	I>V		No	ClinGen ExAC gnomAD
rs1363903173 CA344812607	474	T>N		No	ClinGen gnomAD
rs143386940 CA344812600	475	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143386940 CA1389107	475	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344812596 rs1321187740	476	A>T		No	ClinGen gnomAD
rs1444606285 CA344812587	477	Y>C		No	ClinGen gnomAD
rs765278974 CA1389105	478	N>K		No	ClinGen ExAC gnomAD
CA344812559 rs1241814143	479	Q>K		No	ClinGen gnomAD
rs1455625530 CA344812503	482	D>Y		No	ClinGen gnomAD
TCGA novel	483	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754332348 CA1389103	484	V>E		No	ClinGen ExAC gnomAD
COSM1689820 rs144475962 CA1389101	488	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775186368 CA1389097	491	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1389098 rs138557012 COSM903713	491	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1571964139 CA344812260	494	H>P		No	ClinGen Ensembl
CA344812250 rs1307790474	494	H>Q		No	ClinGen TOPMed
rs533121607 CA37362600	495	P>S		No	ClinGen Ensembl
rs1353638942 CA344812200	497	T>A		No	ClinGen TOPMed
CA344812192 rs1241248803	497	T>I		No	ClinGen TOPMed
rs150454149 CA1389094	498	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056110834 CA37362565	499	P>A		No	ClinGen Ensembl
rs746848457 CA1389092	500	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1389091 rs768029636	501	G>E		No	ClinGen ExAC gnomAD
CA37362538 rs768029636	501	G>V		No	ClinGen ExAC gnomAD
rs12239356 CA1389089 VAR_046995	505	V>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs12239356 CA344812029	505	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	506	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1389087 rs377347379	507	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs753895421 CA1389086	507	S>N		No	ClinGen ExAC gnomAD
CA344811969 rs1439042766	509	K>I		No	ClinGen TOPMed
TCGA novel	509	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159762653 CA344811949	510	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1389085 rs373693050	512	S>G		No	ClinGen ESP ExAC gnomAD
rs1172190525 CA344811848	517	R>K		No	ClinGen gnomAD
rs1454901087 CA344811843	517	R>S		No	ClinGen gnomAD
rs761236929 CA1389084	518	N>S		No	ClinGen ExAC gnomAD
rs767967885 CA1389082	525	P>L		No	ClinGen ExAC gnomAD
CA1389081 rs141184727	528	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758976654 CA1389078	529	G>E		No	ClinGen ExAC gnomAD
rs143681518 CA1389079	529	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs370556879 CA1389077	530	A>T		No	ClinGen ESP ExAC gnomAD
COSM3689342 rs373438300 CA1389075	532	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA1389074 COSM425274 rs200531948	534	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771884338 CA1389073	536	T>A		No	ClinGen ExAC gnomAD
CA37362357 rs79745253	536	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA344811599 rs1558078561	537	V>G		No	ClinGen Ensembl
CA344811602 rs1262055249	537	V>M		No	ClinGen TOPMed
rs1397054230 CA344811593	538	S>N		No	ClinGen gnomAD
CA344811588 rs1571963952	539	T>P		No	ClinGen Ensembl
CA344811563 rs1448896196	543	A>T		No	ClinGen gnomAD
CA1389070 rs755160042	544	N>D		No	ClinGen ExAC gnomAD
CA344811546 rs1188782149	545	M>T		No	ClinGen gnomAD
rs1482587888 CA344811541	546	Q>E		No	ClinGen TOPMed gnomAD
CA1389069 rs749390440	547	L>R		No	ClinGen ExAC
CA1389066 rs750926595	548	Q>*		No	ClinGen ExAC
CA1389065 rs768092144	548	Q>R		No	ClinGen ExAC gnomAD
CA1389063 rs200330119	549	G>A		No	ClinGen ExAC gnomAD
rs1571963891 CA344811513	550	S>N		No	ClinGen Ensembl
CA344811501 rs1281939405	552	N>H		No	ClinGen gnomAD
rs764865961 CA1389062	553	Y>C		No	ClinGen ExAC gnomAD
CA344811487 rs759213710	554	S>G		No	ClinGen ExAC gnomAD
rs759213710 CA1389061	554	S>R		No	ClinGen ExAC gnomAD
CA1389060 rs776055399	555	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760136630 CA344811474	556	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1389058 rs760136630	556	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747941349 CA1389055	558	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1389057 rs773153782	558	M>L		No	ClinGen ExAC gnomAD
rs771939467 CA344811459	558	M>R		No	ClinGen ExAC gnomAD
CA1389056 rs771939467	558	M>T		No	ClinGen ExAC gnomAD
rs774188936 CA1389054	560	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1185967860 CA344811434	562	Y>H		No	ClinGen TOPMed gnomAD
rs768814834 CA1389053 COSM1581556	562	Y>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1389052 rs749502062	564	F>L		No	ClinGen ExAC gnomAD
CA344811406 rs1471098750	566	P>S		No	ClinGen TOPMed
rs145779086 CA1389051	567	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1553260453 CA344811397	568	P>T		No	ClinGen Ensembl
CA1389049 rs745887539	569	P>R		No	ClinGen ExAC gnomAD
rs1202548219	570	Y>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1448992600 CA344811381	570	Y>S		No	ClinGen gnomAD
CA1389047 rs757838276	571	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA344811376 rs1480142525	571	P>S		No	ClinGen TOPMed gnomAD
rs200947677 CA344811373	572	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1389045 rs754628465	572	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1389044 rs754628465	572	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754628465 CA37362072	572	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200947677 CA1389046 COSM1338738	572	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA344811365 rs1275722362	574	R>*		No	ClinGen TOPMed
CA1389041 rs760189624	574	R>Q		No	ClinGen ExAC gnomAD
rs772641873 CA1389040	576	A>T		No	ClinGen ExAC gnomAD
rs1180120264 CA344811346	577	T>S		No	ClinGen Ensembl
rs767508805 CA1389039	578	S>T		No	ClinGen ExAC gnomAD
CA344811327 rs1374406925	580	P>L		No	ClinGen gnomAD
CA344811320 rs761722509	581	D>E		No	ClinGen ExAC gnomAD
rs1349405154 CA344811304	584	S>T		No	ClinGen gnomAD
rs774058859 CA1389037	585	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1389036 rs768464771	586	R>C	Variant assessed as Somatic; 0.0001458 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1389035 rs762612532	586	R>H		No	ClinGen ExAC gnomAD
CA1389033 rs770077123	587	H>Y		No	ClinGen ExAC gnomAD
CA1389031 rs781411616	588	K>R		No	ClinGen ExAC gnomAD
CA1389030 rs771615930	589	Y>F		No	ClinGen ExAC gnomAD
CA1389028 rs202159391	590	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	591	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237984886 CA344811251	592	G>D		No	ClinGen gnomAD
CA1389026 rs144384423	592	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309376282 CA344811248	593	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	594	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385335735 CA344811236	594	S>I		No	ClinGen gnomAD
rs749989636 CA1389023	595	P>L		No	ClinGen ExAC gnomAD
CA1389021 rs761776001	596	D>E		No	ClinGen ExAC gnomAD
rs762812924 CA1389019	598	V>E		No	ClinGen ExAC gnomAD
rs762812924 CA1389018	598	V>G		No	ClinGen ExAC gnomAD
rs766640481 CA37361850	600	R>Q		No	ClinGen gnomAD
CA1389017 rs775147296	600	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1389016 rs770203527	601	K>N		No	ClinGen ExAC gnomAD
rs1571963650 CA344811192	602	V>G		No	ClinGen Ensembl
rs1056162245 CA37361826	602	V>M		No	ClinGen Ensembl
rs759810971 CA1389015	603	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1571963644 CA344811180	604	L>P		No	ClinGen Ensembl
rs771168517 CA1389013	605	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1389011 rs778355430	606	V>M		No	ClinGen ExAC gnomAD
rs1406386933 CA344811162	607	K>N		No	ClinGen TOPMed
rs1571963620 CA344811160	608	T>P		No	ClinGen Ensembl
rs1262323276 CA344811153	609	F>L		No	ClinGen gnomAD
CA344811113 rs1347498179	614	S>P		No	ClinGen gnomAD
CA1389010 rs556662605	615	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA37361794 rs868334488	615	P>S		No	ClinGen Ensembl
rs755809821 CA1389007	616	V>A		No	ClinGen ExAC gnomAD
rs779235554 CA344811103	616	V>L		No	ClinGen ExAC TOPMed gnomAD
rs779235554 CA1389008	616	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	618	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344811088 rs1571963584	618	H>Q		No	ClinGen Ensembl
rs1387553674 CA344811082	619	Q>R		No	ClinGen TOPMed gnomAD
rs1558078298 CA344811074	620	S>C		No	ClinGen Ensembl
rs1044017722 CA37361762	622	Q>K		No	ClinGen Ensembl
rs780781348 CA1389005	624	V>E		No	ClinGen ExAC gnomAD
rs780781348 CA344811047	624	V>G		No	ClinGen ExAC gnomAD
COSM1491964 CA37361734 rs775645066	625	S>I	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs756811859 CA1389004	625	S>R		No	ClinGen ExAC gnomAD
rs762664405 COSM903709 CA1389002	626	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1389001 rs762790330	627	P>R		No	ClinGen ExAC gnomAD
rs1419386626 CA344811027	628	L>V		No	ClinGen gnomAD
rs892287516 CA37361661	629	T>A		No	ClinGen Ensembl
rs139407701 COSM1581555 RCV000946554 CA1389000	629	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344811018 rs1447826036	630	A>T		No	ClinGen TOPMed
rs759366574 CA1388998	630	A>V		No	ClinGen ExAC gnomAD
CA344811009 rs777016106	631	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1388997 rs777016106	631	T>N		No	ClinGen ExAC TOPMed gnomAD
rs772692361 CA1388993	635	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1388992 rs748577702	640	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1388991 RCV001172300 rs774735121	640	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA37361599 rs769036790	641	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1489907783 CA344810945	641	H>Y		No	ClinGen gnomAD
CA1388989 rs749603756	642	S>G		No	ClinGen ExAC gnomAD
CA1388987 rs756858196	643	L>P		No	ClinGen ExAC gnomAD
rs1297980924 CA344810928	644	E>K		No	ClinGen TOPMed
rs746591836 CA344810921	645	V>L		No	ClinGen ExAC gnomAD
rs746591836 CA1388986	645	V>M		No	ClinGen ExAC gnomAD
CA37361587 rs944471557	646	M>T		No	ClinGen TOPMed
TCGA novel	647	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37361582 rs868805208	647	N>S		No	ClinGen Ensembl
rs777129809 CA1388985	648	S>G		No	ClinGen ExAC gnomAD
CA1388984 rs758401651	648	S>N		No	ClinGen ExAC gnomAD
CA37361548 rs976083061	649	M>I		No	ClinGen gnomAD
rs752713837 CA1388983	649	M>L		No	ClinGen ExAC gnomAD
rs765218938 CA1388982	650	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765218938 CA344810887	650	V>M		No	ClinGen ExAC TOPMed gnomAD
CA344810881 rs565634580	651	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1388981 rs565634580	651	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA37361539 rs200192378	651	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344810880 rs1341567282	652	G>S		No	ClinGen gnomAD
CA344810870 rs753618746	653	M>R		No	ClinGen ExAC gnomAD
CA1388980 rs753618746	653	M>T		No	ClinGen ExAC gnomAD
rs766772565 CA1388979	654	E>A		No	ClinGen ExAC gnomAD
rs1233238785 CA344810866	654	E>K		No	ClinGen gnomAD
rs760793358 CA344810858	655	A>S		No	ClinGen ExAC gnomAD
rs760793358 CA1388978	655	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373320359 CA1388977	655	A>V		No	ClinGen ESP ExAC gnomAD
rs369869120 CA344810854	656	M>L		No	ClinGen ESP TOPMed gnomAD
rs369869120 CA37361520	656	M>V		No	ClinGen ESP TOPMed gnomAD
rs1558078134 CA344810846	657	T>A		No	ClinGen Ensembl
rs547427299 CA1388976	657	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749722298 CA1388972	659	K>E		No	ClinGen ExAC gnomAD
rs528924376 CA1388971	660	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1254162346 CA344810815	662	H>R		No	ClinGen TOPMed
CA1388968 rs777442532	662	H>Y		No	ClinGen ExAC gnomAD
rs757869300 CA1388967	663	L>F		No	ClinGen ExAC gnomAD
CA344810811 rs757869300	663	L>I		No	ClinGen ExAC gnomAD
rs1439589183 CA344810805	664	P>S		No	ClinGen gnomAD
rs985436736 CA37361466	665	M>V		No	ClinGen gnomAD
CA1388966 rs200868628	667	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200868628 CA344810785	667	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754960996 CA1388965	667	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1388964 rs754960996	667	R>L		No	ClinGen ExAC TOPMed gnomAD
CA37361450 rs754960996	667	R>P		No	ClinGen ExAC TOPMed gnomAD
RCV000891920 CA1388963 rs61749334	668	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779691111 CA1388962	668	R>H		No	ClinGen ExAC TOPMed gnomAD
CA344810779 rs1278538933	669	N>D		No	ClinGen gnomAD
CA1388961 rs143968043 COSM903706	670	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA344810769 rs143968043	670	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs767726553 CA1388959	671	L>I		No	ClinGen ExAC TOPMed gnomAD
CA344810761 rs1336851908	672	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751637510 COSM1222530 CA1388957	672	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA344810756 rs1354524203	673	E>K		No	ClinGen gnomAD
rs764646234 CA1388956	674	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs202055949 CA1388955 COSM414633	676	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	678	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759897774 CA1388952	678	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA37361394 rs759897774	678	E>Q		No	ClinGen ExAC gnomAD
CA1388951 rs772754750	679	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1388950 rs771691051	680	G>R		No	ClinGen ExAC gnomAD
CA344810662 rs1255397509	681	S>A		No	ClinGen gnomAD
rs747725344 CA1388949	681	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1388948 rs778551901	682	G>D		No	ClinGen ExAC gnomAD
rs768762207 CA1388947	683	S>N		No	ClinGen ExAC gnomAD
CA344810575 rs1571963242	686	V>G		No	ClinGen Ensembl
CA1388945 rs138971900	687	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1011249150 CA37361346	688	Q>E		No	ClinGen Ensembl
rs1300824699 CA344810538	689	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1232841362 CA344810531	689	L>R		No	ClinGen TOPMed gnomAD
CA1388944 rs545645883	690	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	690	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37361310 rs143056223	692	Y>C		No	ClinGen ESP TOPMed
rs572017024 CA344810466	693	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA344810469 rs1251688648	693	H>R		No	ClinGen TOPMed
rs757459160 CA1388941	694	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1388939 rs751690709	697	T>S		No	ClinGen ExAC gnomAD
rs1479604887 CA344810380	698	F>L		No	ClinGen gnomAD
TCGA novel	700	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344810341 rs1431693566	701	A>G		No	ClinGen TOPMed gnomAD
rs764131218 CA37361280	702	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764131218 CA1388938	702	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762984047 CA1388937	703	M>I		No	ClinGen ExAC gnomAD
rs933813511 CA37361278	703	M>V		No	ClinGen Ensembl
CA1388936 rs753166242	706	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1388934 rs201586556	709	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344810211 rs1218314180	710	S>N		No	ClinGen TOPMed gnomAD
CA344810205 CA344810206 rs1484899074	710	S>R		No	ClinGen TOPMed gnomAD
CA344810208 rs1218314180	710	S>T		No	ClinGen TOPMed gnomAD
CA1388933 rs777047210	712	E>Q		No	ClinGen ExAC gnomAD
CA1388930 rs372601623	715	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000974173 rs143136196	715	E>missing		No	ClinVar dbSNP
rs372601623 CA1388931	715	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs189081489 CA1388929	716	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA344810158 rs1345066769	717	A>S		No	ClinGen TOPMed
CA1388924 rs748755830 COSM138274	720	S>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs748755830 CA344810137	720	S>W		No	ClinGen ExAC gnomAD
rs1435611997 CA344810127	722	P>S		No	ClinGen gnomAD
CA344810117 rs375220888	723	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs781022020 CA1388920	723	Q>R		No	ClinGen ExAC gnomAD
rs1571963087 CA344810109	725	P>T		No	ClinGen Ensembl
TCGA novel	726	M>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388917 rs146577020	726	M>T		No	ClinGen ESP ExAC gnomAD
CA1388918 rs556364374	726	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	727	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	727	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388914 rs142125075	728	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1388913 rs142125075	728	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1388915 rs143375730	728	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA344810085 rs1485834480	729	E>G		No	ClinGen TOPMed gnomAD
CA344810088 rs1186746968	729	E>K		No	ClinGen TOPMed gnomAD
CA344810076 rs1257234493	730	K>R		No	ClinGen TOPMed gnomAD
rs1373533874 CA344810068	731	M>K		No	ClinGen TOPMed
rs147616478 CA1388912	731	M>L		No	ClinGen ESP ExAC gnomAD
rs972256931 CA37361157	733	Y>D		No	ClinGen TOPMed gnomAD
CA1388911 rs766818511	736	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA344810022 rs1364777051	738	Q>E		No	ClinGen TOPMed
rs1353293080 CA344810015	739	A>T		No	ClinGen gnomAD
rs774165865 CA1388909	739	A>V		No	ClinGen ExAC TOPMed gnomAD
CA344810009 rs34161375	740	A>S		No	ClinGen gnomAD
CA37361149 rs34161375	740	A>T		No	ClinGen gnomAD
rs1558077775 CA344810006	740	A>V		No	ClinGen Ensembl
CA344809998 rs1213994624	742	A>S		No	ClinGen TOPMed
rs762371599 CA1388907	742	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775058753 CA1388906	743	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1388905 rs769671708	743	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1291496442 CA344809991	744	I>L		No	ClinGen TOPMed
rs1270505933 CA344809973	746	N>K		No	ClinGen TOPMed
CA1388904 rs745790629	746	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1388902 rs370626715	749	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370626715 CA37361087	749	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139475051 CA344809927	753	P>L		No	ClinGen ESP gnomAD
rs139475051 CA37361039	753	P>R		No	ClinGen ESP gnomAD
rs184270548 CA1388896	754	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184270548 CA1388895	754	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766943271 CA1388894 COSM1581554	759	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1165249502 CA344809887	760	S>G		No	ClinGen TOPMed
rs1214646133 CA344809873	761	N>K		No	ClinGen gnomAD
CA1388893 rs144047168	762	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368227298 CA344809864	763	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1388892 COSM314579 rs368227298	763	A>V	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA344809846 rs1323318041	766	Q>R		No	ClinGen gnomAD
CA344809833 rs1364250545	768	Q>E		No	ClinGen TOPMed
CA344809823 rs1305075417	769	A>D		No	ClinGen gnomAD
rs763904657 CA344809816	770	S>I		No	ClinGen ExAC gnomAD
rs763904657 CA1388890	770	S>N		No	ClinGen ExAC gnomAD
rs1300040481 CA344809809	771	L>P		No	ClinGen gnomAD
CA37360963 rs901003984	772	P>T		No	ClinGen TOPMed gnomAD
CA1388889 rs762646658	773	P>S		No	ClinGen ExAC gnomAD
COSM1639718 CA1388887 rs764835617	774	A>T	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1248569738 CA344809793	774	A>V		No	ClinGen TOPMed
rs139248712 CA1388885	775	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758922685 CA1388886	775	M>L		No	ClinGen ExAC TOPMed gnomAD
CA344809784 rs1418212072	776	A>T		No	ClinGen gnomAD
CA1388884 rs770792704	779	R>G		No	ClinGen ExAC gnomAD
CA37360881 rs771988073	780	V>L		No	ClinGen Ensembl
CA344809760 rs771988073	780	V>M		No	ClinGen Ensembl
rs1242190716 CA344809752	781	L>P		No	ClinGen TOPMed
rs1486596886 CA344809748	782	R>K		No	ClinGen TOPMed
CA1388879 rs148160825	787	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs768799840 CA1388878	788	A>T		No	ClinGen ExAC gnomAD
rs749525633 CA1388877	789	I>V		No	ClinGen ExAC TOPMed gnomAD
CA37360792 rs930650455	791	M>I		No	ClinGen Ensembl
CA344809676 rs1311759997	793	R>Q		No	ClinGen gnomAD
rs780710386 CA1388876	793	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1232099200 CA344809656	796	P>L		No	ClinGen gnomAD
CA1388874 rs146466456 COSM1658952	797	P>L	salivary_gland [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1571962786 CA344809637	799	V>G		No	ClinGen Ensembl
rs563897292 CA1388872	800	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142432691 CA1388870	801	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs759094686 CA1388869	802	A>S		No	ClinGen ExAC gnomAD
rs759094686 CA344809624	802	A>T		No	ClinGen ExAC gnomAD
CA344809615 rs1160118206	803	S>C		No	ClinGen gnomAD
CA344809618 rs1336197428	803	S>P		No	ClinGen TOPMed
CA344809607 rs146980027	805	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1388867 rs146980027	805	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	807	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388866 rs551943170	808	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344809564 rs1204270584	812	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344809537 rs1209052383	816	V>M		No	ClinGen TOPMed gnomAD
rs1347197734 CA344809524	817	K>N		No	ClinGen gnomAD
TCGA novel	818	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358114553 CA344809513	819	R>Q		No	ClinGen gnomAD
rs1216793547 CA344809514	819	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344809509 rs1185410492	820	V>I		No	ClinGen TOPMed
CA37360746 rs1041780703	821	K>R		No	ClinGen TOPMed
TCGA novel	829	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236049129 CA344809440	830	V>M		No	ClinGen gnomAD
CA37360723 rs781111731	831	S>C		No	ClinGen Ensembl
CA1388860 rs372567962	833	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1030908546 CA37360700	835	S>F		No	ClinGen TOPMed
rs201433939 CA1388857	839	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1388856 rs781746617	839	S>N		No	ClinGen ExAC
CA37360687 rs939504113	842	E>Q		No	ClinGen TOPMed
CA344809349 rs1374318617	843	R>T		No	ClinGen gnomAD
TCGA novel	844	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344809332 rs1327503875	845	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	845	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37360666 rs559991957	845	M>V		No	ClinGen 1000Genomes gnomAD
CA1388854 rs751808404	846	M>I		No	ClinGen ExAC gnomAD
rs542139540 CA1388855	846	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1388853 rs778698442	847	I>M		No	ClinGen ExAC TOPMed gnomAD
rs777200331 CA1388837	849	N>T		No	ClinGen ExAC gnomAD
CA344808896 rs1445205577	852	K>*		No	ClinGen Ensembl
rs771341494 CA1388836	852	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1025998326 CA344808866	856	A>P		No	ClinGen TOPMed gnomAD
rs1025998326 CA37357079	856	A>T		No	ClinGen TOPMed gnomAD
rs72757962 CA1388834	857	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139365653 CA1388833	858	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs200455156 CA1388832	860	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1054872580 CA37357052	860	A>V		No	ClinGen TOPMed
rs779629858 CA1388831	863	R>T		No	ClinGen ExAC gnomAD
CA344808813 rs1414320140	864	P>L		No	ClinGen gnomAD
CA344808800 rs1182547580	866	M>I		No	ClinGen gnomAD
rs148810458 CA344808806	866	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA344808804 rs1571959521	866	M>T		No	ClinGen Ensembl
CA1388828 rs148810458	866	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA344808799 rs1459149729	867	L>M		No	ClinGen gnomAD
CA344808789 rs1294302453	868	A>V		No	ClinGen TOPMed
CA344808786 rs1341049490	869	A>T		No	ClinGen TOPMed
CA344808774 rs757127651	870	L>F		No	ClinGen ExAC gnomAD
rs751417115 CA37357013	871	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1388826 rs751417115	871	N>T		No	ClinGen ExAC TOPMed gnomAD
rs763829335 CA1388825	874	S>L		No	ClinGen ExAC TOPMed gnomAD
rs76763910 RCV000974884 CA1388823	877	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765489245 CA1388822	878	V>I		No	ClinGen ExAC TOPMed gnomAD
CA37356993 rs1011637263	881	R>Q		No	ClinGen TOPMed gnomAD
COSM532346 CA1388820 rs533330548	881	R>W	lung Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1571959465 CA344808709	882	E>G		No	ClinGen Ensembl
rs771521435 CA1388819 COSM1338734	883	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747445272 CA1388818	884	N>D		No	ClinGen ExAC gnomAD
rs1384446244 CA344808691	885	R>G		No	ClinGen gnomAD
rs1159511148 CA344808689	885	R>Q		No	ClinGen gnomAD
CA1388817 rs147068151	886	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA344808682 rs147068151	886	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs772445868 CA1388816	887	D>H		No	ClinGen ExAC gnomAD
rs748450471 CA1388815	887	D>V		No	ClinGen ExAC gnomAD
CA1388814 rs779681455	888	A>T		No	ClinGen ExAC gnomAD
TCGA novel	888	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1214005990 CA344808653	889	T>I		No	ClinGen TOPMed gnomAD
rs1283057526 COSM228295 CA344808647	890	R>Q	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1388813 rs544479567	890	R>W		No	ClinGen ExAC TOPMed gnomAD
CA344808640 rs1216946328	891	V>F		No	ClinGen gnomAD
CA344808635 rs1571959416	891	V>G		No	ClinGen Ensembl
rs1451262310 CA344808630	892	P>L		No	ClinGen TOPMed
CA344808631 rs1355186250	892	P>S		No	ClinGen gnomAD
CA344808625 rs1277657787	893	M>V		No	ClinGen gnomAD
CA344808604 rs1233458272	894	D>G		No	ClinGen gnomAD
rs757257903 CA1388810	896	R>G		No	ClinGen ExAC gnomAD
rs751476579 CA1388809	896	R>K		No	ClinGen ExAC TOPMed gnomAD
rs762232048 CA1388797	897	F>C		No	ClinGen ExAC gnomAD
CA1388795 rs769484147	899	T>I		No	ClinGen ExAC gnomAD
rs1345072590 CA344807926	900	L>P		No	ClinGen TOPMed gnomAD
CA1388794 rs745478396	903	K>R		No	ClinGen ExAC gnomAD
CA1388793 rs767917870	906	E>D		No	ClinGen ExAC TOPMed gnomAD
rs770362311 CA1388792	908	M>V		No	ClinGen ExAC TOPMed gnomAD
rs560225632 CA37356462 CA1388788	914	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1388789 rs758400720	914	E>K		No	ClinGen ExAC gnomAD
CA37356459 rs376127067	915	Q>E		No	ClinGen ESP TOPMed
TCGA novel	918	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344807674 rs1245568133	918	K>Q		No	ClinGen TOPMed
CA1388787 rs138595241	920	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	920	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766563310 CA1388785	921	A>E		No	ClinGen ExAC TOPMed gnomAD
CA344807600 rs766563310	921	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1388786 rs754766309	921	A>T		No	ClinGen ExAC gnomAD
CA1388784 rs766563310 COSM903705	921	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	922	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs80056850 CA1388780	924	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774735470 CA1388779	927	T>S		No	ClinGen ExAC TOPMed gnomAD
CA344807416 rs1229153775	929	A>V		No	ClinGen TOPMed gnomAD
CA344807318 rs746558501	934	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1388774 COSM463918 rs746558501	934	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1558074769 CA344807300	935	E>K		No	ClinGen Ensembl
CA1388772 rs772180365	938	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	938	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388770 rs778948538	940	R>C		No	ClinGen ExAC TOPMed gnomAD
rs962347314 CA344806988	949	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs753599035 CA1388768	953	I>M		No	ClinGen ExAC TOPMed gnomAD
rs930626345 CA37356445	956	K>R		No	ClinGen TOPMed
TCGA novel	957	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344806748 rs1438568948	959	N>K		No	ClinGen gnomAD
rs750551556 CA1388765	960	T>K		No	ClinGen ExAC gnomAD
rs1433260693 CA344806607	968	I>V		No	ClinGen gnomAD
rs1558074733 CA344806565	969	K>N		No	ClinGen Ensembl
TCGA novel	970	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388746 rs781341196	970	V>M		No	ClinGen ExAC gnomAD
rs964391980 CA37356102	974	G>E		No	ClinGen Ensembl
CA1388742 rs576230455	974	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	977	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344805958 rs1360603374	977	W>R		No	ClinGen gnomAD
CA344805915 rs1159864268	978	H>R		No	ClinGen gnomAD
TCGA novel	980	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432342839 CA344805880	980	I>V		No	ClinGen gnomAD
CA344805854 rs1571956350	982	T>P		No	ClinGen Ensembl
TCGA novel	986	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388741 rs753047399	987	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1388739 rs759933226	988	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA344805734 rs1193197006	990	C>R		No	ClinGen TOPMed gnomAD
rs1193197006 CA344805735	990	C>S		No	ClinGen TOPMed gnomAD
CA344805729 rs1571956325	990	C>Y		No	ClinGen Ensembl
CA1388737 rs767208922	991	H>L		No	ClinGen ExAC gnomAD
CA37356101 rs761473412	991	H>Q		No	ClinGen ExAC gnomAD
CA344805691 rs1270134770	992	D>E		No	ClinGen TOPMed
TCGA novel	992	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208762934 CA344805632	997	V>M		No	ClinGen TOPMed gnomAD
CA344805620 rs1238492148	998	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1000	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388735 rs773895507	1001	G>R		No	ClinGen ExAC TOPMed gnomAD
CA344805593 rs1571956289	1002	V>G		No	ClinGen Ensembl
CA344805596 rs1236135978	1002	V>M		No	ClinGen gnomAD
CA1388733 rs749217187	1003	N>I		No	ClinGen ExAC gnomAD
CA37356099 rs560035646	1006	A>S		No	ClinGen 1000Genomes
COSM209867 CA344805566 rs1400998275	1006	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA344805559 rs1340684886	1007	M>I		No	ClinGen gnomAD
TCGA novel	1008	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37356098 rs141008927	1008	V>F		No	ClinGen ESP gnomAD
rs1393748975 CA344805552	1008	V>G		No	ClinGen gnomAD
CA1388732 rs775249327	1009	T>A		No	ClinGen ExAC TOPMed gnomAD
rs769652266 CA1388731	1010	A>V		No	ClinGen ExAC TOPMed gnomAD
CA344805521 rs1467572884	1011	E>G		No	ClinGen gnomAD
CA1388714 rs775509122	1013	E>V		No	ClinGen ExAC gnomAD
rs971817654 CA37355747	1016	R>*		No	ClinGen TOPMed
rs201803310 CA1388712	1016	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1388711 rs776388847	1018	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1189640764 CA344803935	1019	S>I		No	ClinGen gnomAD
CA344803930 rs1405764874 COSM3803840	1019	S>R	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1571954507 CA344803925	1020	H>Y		No	ClinGen Ensembl
COSM209865 rs771183448 CA1388710	1021	R>*	large_intestine Variant assessed as Somatic; 4.619e-05 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1388709 rs202097883	1021	R>Q		No	ClinGen ESP ExAC gnomAD
CA344803882 rs1459351333	1022	Y>*		No	ClinGen gnomAD
rs777814014 CA1388708	1023	W>*		No	ClinGen ExAC TOPMed gnomAD
CA344803830 rs1355125383	1025	K>R		No	ClinGen gnomAD
rs748113622 CA1388706	1028	S>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1030	H>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374071876 CA344803757	1030	H>D		No	ClinGen gnomAD
CA1388705 rs779536759	1035	Y>F		No	ClinGen ExAC gnomAD
CA344803595 rs1321263831	1038	F>L		No	ClinGen gnomAD
CA344803606 rs1402194816	1038	F>V		No	ClinGen gnomAD
rs1450362997 CA344803549	1041	T>A		No	ClinGen TOPMed
CA1388703 COSM1317578 rs540376362	1042	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA37355742 rs376950645	1043	K>N		No	ClinGen ESP TOPMed
rs1165252547 CA344803472	1044	F>L		No	ClinGen gnomAD
rs1357611465 CA344803482	1044	F>Y		No	ClinGen Ensembl
CA1388700 rs181559516	1045	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM903700 rs181559516 CA1388701	1045	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM390010 rs61749333 CA1388699	1046	T>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA344803404 rs1211672225	1048	S>F		No	ClinGen TOPMed
TCGA novel	1048	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251684128 CA344803343	1051	Y>C		No	ClinGen TOPMed gnomAD
rs368355982 CA1388696	1051	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA344803354 rs368355982	1051	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA344803347 rs1251684128	1051	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	1052	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344803307 rs1452412459	1053	T>A		No	ClinGen TOPMed
CA1388694 rs189546585	1054	T>M	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA344803287 rs189546585	1054	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344803291 rs1198526875	1054	T>S		No	ClinGen gnomAD
TCGA novel	1055	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1388691 rs372859181	1057	K>R		No	ClinGen ESP ExAC gnomAD
rs1240248993 CA344803252	1058	V>I		No	ClinGen TOPMed gnomAD
rs199690849 CA37355741	1060	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs779111878 CA1388688	1065	Q>R		No	ClinGen ExAC gnomAD
rs148337405 CA1388687	1068	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1388685 rs780657216	1069	V>G		No	ClinGen ExAC gnomAD
rs1558071918 CA344803135	1069	V>L		No	ClinGen Ensembl
TCGA novel	1070	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1071	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344803104 rs1359973791	1073	Q>R		No	ClinGen gnomAD
rs1421603645 CA344803099	1074	Y>H		No	ClinGen gnomAD
CA1388682 rs149517226	1075	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1076	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478550030 CA344803084	1076	D>N		No	ClinGen gnomAD
CA344803004 rs1201132785	1081	G>C		No	ClinGen gnomAD
rs1220551409 CA344803001	1081	G>D		No	ClinGen TOPMed
CA344803007 rs1201132785	1081	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752293668 CA1388680	1082	C>S		No	ClinGen ExAC
CA1388679 rs145574929	1083	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1135352 CA344802957	1084	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198717289 CA344802948	1085	D>A		No	ClinGen TOPMed
CA1388676 rs753788551	1086	V>I		No	ClinGen ExAC gnomAD
rs766241154 CA1388675	1090	L>I		No	ClinGen ExAC gnomAD
CA1388653 rs753345462	1096	I>S		No	ClinGen ExAC gnomAD
CA344812280 rs1571951497	1097	Q>R		No	ClinGen Ensembl
CA344812258 rs758241410	1098	S>*		No	ClinGen TOPMed gnomAD
CA37405537 rs758241410	1098	S>L		No	ClinGen TOPMed gnomAD
rs1048433844 CA37405533	1099	V>I		No	ClinGen TOPMed
rs755979033 COSM903699 CA1388651	1100	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs140773516 CA1388650	1100	R>H		No	ClinGen ESP ExAC TOPMed
CA37405522 rs140946472	1101	R>C		No	ClinGen ESP TOPMed
rs767244490 CA1388649	1104	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344812108 rs1175111317	1107	L>R		No	ClinGen TOPMed
CA344812112 rs1433350645	1107	L>V		No	ClinGen TOPMed
CA344812061 rs1401546369	1110	T>I		No	ClinGen gnomAD
rs774726422 CA1388647	1111	K>E		No	ClinGen ExAC gnomAD
CA37405509 rs1018710626	1113	R>Q		No	ClinGen TOPMed gnomAD
CA1388646 rs144677892	1113	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1388645 rs535295573	1114	H>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM1581553 CA1388644 rs200340171 RCV000890231	1115	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA37405500 rs944070909	1115	P>S		No	ClinGen TOPMed
rs1457134890 CA344811993	1117	I>L		No	ClinGen gnomAD
rs777149165 CA344811982	1117	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1388640 rs771216709	1120	H>L		No	ClinGen ExAC gnomAD
CA1388635 rs779395805	1130	V>M		No	ClinGen ExAC gnomAD
CA344811780 rs150646672	1135	E>*		No	ClinGen ESP ExAC gnomAD
CA1388633 rs150646672	1135	E>K		No	ClinGen ESP ExAC gnomAD
CA344811757 rs1347700850	1137	M>V		No	ClinGen gnomAD
TCGA novel	1138	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1138	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781124543 CA1388632	1139	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA37405443 rs888807226	1140	C>R		No	ClinGen Ensembl
rs180859430 CA1388631	1140	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751395433 CA1388630	1143	H>R		No	ClinGen ExAC TOPMed gnomAD
CA344811669 rs1438939017	1144	N>D		No	ClinGen TOPMed gnomAD
rs1178678823 COSM903698 CA344811658	1145	E>K	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1388612 rs751440587	1147	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777741752 CA1388611	1151	M>V		No	ClinGen ExAC gnomAD
CA344810629 rs1290548094	1154	R>K		No	ClinGen gnomAD
CA1388609 rs371555244	1157	R>T		No	ClinGen ESP ExAC gnomAD
rs1481308197 CA344810536	1161	M>I		No	ClinGen gnomAD
CA37400130 rs200052285	1163	M>L		No	ClinGen Ensembl
CA37400125 rs200052285	1163	M>V		No	ClinGen Ensembl
CA344810507 rs1421703565	1164	I>V		No	ClinGen gnomAD
rs376050971 CA1388607	1165	Q>E		No	ClinGen ESP ExAC gnomAD
rs138031903 CA1388606	1167	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA344810474 rs1488643373	1167	I>V		No	ClinGen gnomAD
rs761135915 CA1388604	1168	A>G		No	ClinGen ExAC gnomAD
CA37400105 rs766848166	1168	A>S		No	ClinGen ExAC gnomAD
rs766848166 CA1388605	1168	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1198183278 CA344810453	1169	Q>*		No	ClinGen TOPMed
CA344810438 rs1205932195	1170	Y>C		No	ClinGen gnomAD
CA344810428 rs1316490710	1171	K>*		No	ClinGen TOPMed gnomAD
rs1316490710 CA344810430	1171	K>E		No	ClinGen TOPMed gnomAD
CA344810426 rs1275887772	1171	K>R		No	ClinGen gnomAD
CA37400092 rs138007137	1174	Y>H		No	ClinGen 1000Genomes
CA344810356 rs1418794092	1176	V>A		No	ClinGen TOPMed
CA1388599 rs769480962	1178	I>F		No	ClinGen ExAC gnomAD
CA37400045 rs981613514	1179	Q>R		No	ClinGen Ensembl
CA344810316 rs1337344427 TCGA novel	1180	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA1388598 rs745426839	1182	Q>R		No	ClinGen ExAC gnomAD
rs1397902221 CA344810257	1184	S>A		No	ClinGen gnomAD
TCGA novel	1185	R>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA37400017 rs368969626	1186	L>F		No	ClinGen ESP

2 associated diseases with Q15678

[MIM: 613611]: Choanal atresia and lymphedema (CATLPH)

A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. {ECO:0000269|PubMed:20826270}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.

Without disease ID

A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. {ECO:0000269|PubMed:20826270}. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.

12 regional properties for Q15678

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	908 - 1182	IPR000242
domain	FERM domain	21 - 306	IPR000299
domain	Tyrosine-specific protein phosphatases domain	1090 - 1171	IPR000387
domain	Protein-tyrosine phosphatase, catalytic	1068 - 1179	IPR003595
active_site	Protein-tyrosine phosphatase, active site	1119 - 1129	IPR016130
domain	FERM, N-terminal	25 - 87	IPR018979
domain	FERM, C-terminal PH-like domain	224 - 310	IPR018980
conserved_site	FERM conserved site	75 - 105	IPR019747-1
conserved_site	FERM conserved site	190 - 219	IPR019747-2
domain	FERM central domain	106 - 220	IPR019748
domain	Band 4.1 domain	17 - 220	IPR019749
domain	PTPN14/21, FERM domain C-lobe	215 - 305	IPR041782

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Nucleus	Translocation into the nucleus is associated with induction of cell proliferation Partially colocalized with actin filaments at the plasma membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
receptor tyrosine kinase binding	Binding to a receptor that possesses protein tyrosine kinase activity.
transcription coregulator activity	A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

4 GO annotations of biological process

Name	Definition
lymphangiogenesis	Lymph vessel formation when new vessels emerge from the proliferation of pre-existing vessels.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
regulation of protein export from nucleus	Any process that modulates the frequency, rate or extent of the directed movement of proteins from the nucleus to the cytoplasm.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P29074	PTPN4	Tyrosine-protein phosphatase non-receptor type 4	Homo sapiens (Human)	PR
P26045	PTPN3	Tyrosine-protein phosphatase non-receptor type 3	Homo sapiens (Human)	PR
Q9WU22	Ptpn4	Tyrosine-protein phosphatase non-receptor type 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPFGLKLRRT	RRYNVLSKNC	FVTRIRLLDS	NVIECTLSVE	STGQECLEAV	AQRLELRETH
70	80	90	100	110	120
YFGLWFLSKS	QQARWVELEK	PLKKHLDKFA	NEPLLFFGVM	FYVPNVSWLQ	QEATRYQYYL
130	140	150	160	170	180
QVKKDVLEGR	LRCTLDQVIR	LAGLAVQADF	GDYNQFDSQD	FLREYVLFPM	DLALEEAVLE
190	200	210	220	230	240
ELTQKVAQEH	KAHSGILPAE	AELMYINEVE	RLDGFGQEIF	PVKDNHGNCV	HLGIFFMGIF
250	260	270	280	290	300
VRNRIGRQAV	IYRWNDMGNI	THNKSTILVE	LINKEETALF	HTDDIENAKY	ISRLFATRHK
310	320	330	340	350	360
FYKQNKICTE	QSNSPPPIRR	QPTWSRSSLP	RQQPYILPPV	HVQCGEHYSE	THTSQDSIFH
370	380	390	400	410	420
GNEEALYCNS	HNSLDLNYLN	GTVTNGSVCS	VHSVNSLNCS	QSFIQASPVS	SNLSIPGSDI
430	440	450	460	470	480
MRADYIPSHR	HSAIIVPSYR	PTPDYETVMR	QMKRGILHTD	SQSQSLRNLN	IINTHAYNQP
490	500	510	520	530	540
EDLVYSQPEM	RERHPYTVPY	GPQGVYSNKL	VSPSDQRNPK	NNVVPSKPGA	SAISHTVSTP
550	560	570	580	590	600
ELANMQLQGS	HNYSTAHMLK	NYLFRPPPPY	PRPRPATSTP	DLASHRHKYV	SGSSPDLVTR
610	620	630	640	650	660
KVQLSVKTFQ	EDSSPVVHQS	LQEVSEPLTA	TKHHGTVNKR	HSLEVMNSMV	RGMEAMTLKS
670	680	690	700	710	720
LHLPMARRNT	LREQGPPEEG	SGSHEVPQLP	QYHHKKTFSD	ATMLIHSSES	EEEEEEAPES
730	740	750	760	770	780
VPQIPMLREK	MEYSAQLQAA	LARIPNKPPP	EYPGPRKSVS	NGALRQDQAS	LPPAMARARV
790	800	810	820	830	840
LRHGPAKAIS	MSRTDPPAVN	GASLGPSISE	PDLTSVKERV	KKEPVKERPV	SEMFSLEDSI
850	860	870	880	890	900
IEREMMIRNL	EKQKMAGLEA	QKRPLMLAAL	NGLSVARVSG	REENRVDATR	VPMDERFRTL
910	920	930	940	950	960
KKKLEEGMVF	TEYEQIPKKK	ANGIFSTAAL	PENAERSRIR	EVVPYEENRV	ELIPTKENNT
970	980	990	1000	1010	1020
GYINASHIKV	VVGGAEWHYI	ATQGPLPHTC	HDFWQMVWEQ	GVNVIAMVTA	EEEGGRTKSH
1030	1040	1050	1060	1070	1080
RYWPKLGSKH	SSATYGKFKV	TTKFRTDSVC	YATTGLKVKH	LLSGQERTVW	HLQYTDWPDH
1090	1100	1110	1120	1130	1140
GCPEDVQGFL	SYLEEIQSVR	RHTNSMLEGT	KNRHPPIVVH	CSAGVGRTGV	LILSELMIYC
1150	1160	1170	1180
LEHNEKVEVP	MMLRLLREQR	MFMIQTIAQY	KFVYQVLIQF	LQNSRLI