AiPD: Autoinhibited Protein Database

A1X283

Gene name	SH3PXD2B (FAD49, KIAA1295, TKS4)
Protein name	SH3 and PX domain-containing protein 2B
Names	Adapter protein HOFI, Factor for adipocyte differentiation 49, Tyrosine kinase substrate with four SH3 domains
Species	Homo sapiens (Human)
KEGG Pathway	hsa:285590
EC number
Protein Class	SH3 MULTIPLE DOMAIN (PTHR15706)

Descriptions

The scaffold protein SH3 and PX domain-containing protein 2B (SH3PXD2B, also known as Tks4) is a member of the p47phox-related organizer superfamily and plays a key role in cell motility by affecting the formation of podosomes and invadopodia. In addition, Tks4 is involved in the epidermal growth factor (EGF) signaling pathway, in which EGF induces the translocation of Tks4 from the cytoplasm to the plasma membrane. Tks4 contains an N-terminal region: a phosphoinositide-binding PX domain is followed by two SH3 domains (tandem SH3) and a proline-rich region (PRR). The PRR is followed by a third and a fourth SH3 domain connected by a long (~420 residues) unstructured region. In the autoinhibited state, the tandem SH3 domain of Tks4 binds the PRR and thus the third SH3 domain interacts with the PX domain. The association of the PX domain and the third SH3 domain contributes to the formation of the autoinhibited conformation, and the PRR following the second SH3 domain folds back and associates with the tandem SH3, yielding a compact conformation.

Autoinhibitory domains (AIDs)

Target domain	5-129 (PX domain)
Relief mechanism	PTM
Assay	Structural analysis, Split protein assay, Deletion assay, Mutagenesis experiment

AID

368-427 (Third SH3 domain)

Target domain

5-129 (PX domain)

Relief mechanism

PTM (Tks4 phosphorylation)

Assay

Structural analysis, Split protein assay, Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Merő B et al. (2021) "Characterization of the Intramolecular Interactions and Regulatory Mechanisms of the Scaffold Protein Tks4", International journal of molecular sciences, 22,

Autoinhibited structure

Activated structure

1 structures for A1X283

Entry ID	Method	Resolution	Chain	Position	Source
AF-A1X283-F1	Predicted				AlphaFoldDB

846 variants for A1X283

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs267607046 VAR_063764 RCV000000213 CA114029	43	R>W	Frank-Ter Haar syndrome Variant assessed as Somatic; MODERATE impact. FTHS [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
rs794728005 RCV000000211	50	D>*	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001155510 rs1758254485	92	V>I	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000903078 rs368080609 RCV000326087 CA3561533	144	G>C	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs149519060 RCV003279033 CA3561440 RCV000728794	233	T>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000324096 CA3561391 rs77955907 RCV001522022 RCV001723952	295	P>Q	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1757135183 RCV001151634	300	L>S	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1156856878 CA362142529 RCV003283998 RCV001151633	305	R>W	Frank-Ter Haar syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001151632 rs755251609 RCV002032398 CA3561380	309	A>V	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001299917 rs111492578 RCV002541909 CA3561372	323	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000000212 rs794728006	324	R>missing	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001151630 rs75198607 RCV001522021 RCV001724257 CA3561364	329	P>L	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000923263 rs138316493 CA3561358 RCV000301120	333	G>S	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362141608 RCV001157079 rs1490267498	343	R>G	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs372893835 RCV001155395 CA132161529	363	P>L	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs886060423 CA10624184 RCV000344344	376	I>V	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001155394 RCV000174500 CA240044 rs142779141 RCV003317126	431	A>T	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201324424 CA10620016 CA3561215 RCV000348060	442	H>Q	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001155392 rs146081598 CA3561213 RCV002550532 RCV000975090	445	T>A	Frank-Ter Haar syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3561211 RCV002532434 rs552171716 RCV000593029	448	R>W	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000660439 rs144424788 CA3561191 RCV001861719 COSM369095	468	R>Q	lung Frank-Ter Haar syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000283604 rs886060422 CA10620014	491	S>N	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3561173 RCV001154556 RCV001300336 rs201272196	498	A>T	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000378173 CA3561158 RCV000441194 rs62621449	515	D>N	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001154552 rs1027394288 CA132184180	537	L>R	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001154551 CA132184099 rs886239248 RCV001859009	539	R>Q	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA3561125 RCV001510652 RCV001151545 rs536952235	558	G>S	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV003232168 RCV000985041 rs1581259156 CA362147386	560	I>F	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3561109 RCV000596608 rs111230322 RCV000372512 RCV000946899	571	P>L	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3561070 RCV000728796 RCV003279034 rs148050566	652	T>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752042835 RCV001151544 CA3561064	662	D>N	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200804079 CA3561047 RCV001151543	693	D>E	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs144659619 RCV000764590 CA3561044 RCV000594287	698	R>Q	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000764589 RCV000591785 CA3561020 rs766153965	730	P>L	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3561014 RCV003317197 RCV000330657 rs141103005 RCV000899923	743	V>M	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1756764977 RCV001156970	792	P>S	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002520354 rs562915075 CA3560977 RCV000275514	799	L>F	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs148498348 RCV000973378 CA3560974 RCV002548373	800	V>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP
RCV000370035 RCV000350642 rs200899339 CA3560955	819	R>Q	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3560953 rs73317796 RCV000428801 RCV000315417	826	P>L	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001331474 rs1756757651 RCV001171971	864	D>E	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
rs551498843 RCV001731975 RCV000912910	876	F>missing	Frank-Ter Haar syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000919543 rs200423669 CA3560920 RCV003169310	883	S>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1310261871 CA362146854	2	P>Q		No	ClinGen TOPMed gnomAD
CA132189110 rs1046519943	3	P>S		No	ClinGen TOPMed gnomAD
CA362146823 rs1275225636	5	R>G		No	ClinGen TOPMed
CA3561712 rs780751262	5	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780751262 CA362146815	5	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1388377692 CA362146809	6	S>R		No	ClinGen gnomAD
CA362146802 rs1453862501	6	S>T		No	ClinGen gnomAD
rs1390840970 CA362146794	7	I>V		No	ClinGen TOPMed gnomAD
rs746331779 CA3561710	8	V>G		No	ClinGen ExAC gnomAD
rs868003799 CA132189087	10	V>L		No	ClinGen Ensembl
rs1381820498 CA362146723	11	K>R		No	ClinGen TOPMed gnomAD
rs1173510361 CA362146663	16	Q>R		No	ClinGen TOPMed
CA3561707 rs754104564	19	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754104564 CA362146630	19	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA362146633 rs1452634168	19	R>W		No	ClinGen gnomAD
rs200559361 CA362146620	20	V>A		No	ClinGen ExAC TOPMed gnomAD
rs200559361 CA3561706	20	V>E		No	ClinGen ExAC TOPMed gnomAD
rs200559361 CA3561705	20	V>G		No	ClinGen ExAC TOPMed gnomAD
CA362146615 rs1355909849	21	P>A		No	ClinGen gnomAD
TCGA novel	21	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1355909849 CA362146617	21	P>S		No	ClinGen gnomAD
rs766111643 CA132189055	22	N>D		No	ClinGen ExAC TOPMed
CA3561703 rs766111643	22	N>H		No	ClinGen ExAC TOPMed
rs916323729 CA132189053	22	N>S		No	ClinGen TOPMed
CA362146587 rs1233789999	23	K>R		No	ClinGen gnomAD
rs1258627895 CA362144575	26	V>L		No	ClinGen gnomAD
CA362144566 rs1561934197	27	Y>S		No	ClinGen Ensembl
rs1232193822 CA362144561	28	I>V		No	ClinGen gnomAD
CA3561674 rs774991139	30	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3561675 rs142674400	30	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs201677427 CA3561673	32	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1027924540 CA132170991	35	S>C		No	ClinGen TOPMed gnomAD
rs1401709083 CA362144515	35	S>N		No	ClinGen gnomAD
CA362144492 rs1430829340	39	E>A		No	ClinGen TOPMed
CA3561670 rs769797550	39	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362144482 rs1469770083	40	A>V		No	ClinGen TOPMed gnomAD
rs781377610 CA362144465	43	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3561669 rs781377610	43	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758252399 CA3561668	44	R>C		No	ClinGen ExAC gnomAD
rs1212941041 CA362144459	44	R>L		No	ClinGen gnomAD
CA362144454 rs1418355491	45	Y>C		No	ClinGen gnomAD
TCGA novel	49	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	Q>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1354869972 CA362149318	55	M>I		No	ClinGen gnomAD
CA3561651 rs776875653	55	M>L		No	ClinGen ExAC TOPMed gnomAD
COSM3614197	60	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1065862	61	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747209784 CA3561649	61	M>T		No	ClinGen ExAC gnomAD
rs375880429 CA3561650	61	M>V		No	ClinGen ESP ExAC gnomAD
rs1294600900 CA362149166	65	Q>P		No	ClinGen gnomAD
rs1294600900 CA362149168	65	Q>R		No	ClinGen gnomAD
CA3561648 rs778606247	69	K>Q		No	ClinGen ExAC gnomAD
CA3561647 rs757012551	69	K>R		No	ClinGen ExAC gnomAD
COSM737698	71	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200536170 RCV000489164 CA3561645	71	R>Q		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs749197266 CA3561646	71	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	76	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1065861	78	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362146089 rs1260518038	78	G>V		No	ClinGen gnomAD
rs61755907 RCV000513982 CA132189989	84	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1581304939 CA362146016 COSM1065860	84	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl
rs199627294 CA3561616	85	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs569007910 CA3561613	88	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3561614 rs191035319	88	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376712965 CA3561611	89	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	89	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362145941 rs1464906718	90	V>M		No	ClinGen gnomAD
CA3561610 rs773170741	94	R>C		No	ClinGen ExAC gnomAD
CA3561609 rs769643795	94	R>H		No	ClinGen ExAC gnomAD
rs748109971 CA3561608	95	L>P		No	ClinGen ExAC gnomAD
rs1367341603 CA362145858	97	P>A		No	ClinGen TOPMed gnomAD
CA362145857 rs1367341603	97	P>S		No	ClinGen TOPMed gnomAD
rs1162266861 CA362145847	98	I>V		No	ClinGen gnomAD
rs144348295 CA3561607	99	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA362145828 rs1256412828	99	D>V		No	ClinGen gnomAD
CA362145810 rs768113862	100	E>D		No	ClinGen ExAC gnomAD
rs1191517215 CA362145819	100	E>K		No	ClinGen gnomAD
CA362145798 rs6880739	101	Y>C		No	ClinGen Ensembl
rs6880739 CA132189911 VAR_046226	101	Y>F		No	ClinGen UniProt Ensembl dbSNP
CA362145784 rs1581304863	102	C>S		No	ClinGen Ensembl
TCGA novel	105	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1311111466 CA362144771	109	P>S		No	ClinGen gnomAD
rs761693351 CA132181997	110	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3561590 rs776745582	110	P>R		No	ClinGen ExAC TOPMed gnomAD
rs761693351 CA3561591	110	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	111	Y>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA132181954 rs772725434	112	I>M		No	ClinGen Ensembl
rs1294414911 CA362144725	114	Q>H		No	ClinGen gnomAD
rs779649453 CA3561586	116	D>G		No	ClinGen ExAC gnomAD
COSM3827693	122	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362144669 rs1234814076	122	F>S		No	ClinGen TOPMed
rs1302912842 CA362144653	124	T>R		No	ClinGen TOPMed
rs1216354796 CA362144645	125	R>S		No	ClinGen TOPMed
CA362144639 rs1159698502	126	P>L		No	ClinGen TOPMed gnomAD
CA362144640 rs1159698502	126	P>R		No	ClinGen TOPMed gnomAD
CA362144644 rs1362048606	126	P>T		No	ClinGen gnomAD
CA362144631 rs1477888417	127	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	128	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561585 rs771418988	128	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362144629 rs771418988	128	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA362144622 rs1433875624	129	L>V		No	ClinGen gnomAD
CA3561584 rs745538071	131	P>S		No	ClinGen ExAC gnomAD
rs778527787 CA3561583	132	P>H		No	ClinGen ExAC TOPMed gnomAD
CA132181914 rs778527787	132	P>R		No	ClinGen ExAC TOPMed gnomAD
rs755145107 CA3561557	137	I>T		No	ClinGen ExAC gnomAD
rs938119583 CA132176087	138	G>A		No	ClinGen TOPMed gnomAD
CA362144359 rs938119583	138	G>E		No	ClinGen TOPMed gnomAD
CA132176090 rs865941777	138	G>W		No	ClinGen Ensembl
CA3561556 rs751663567	139	K>I		No	ClinGen ExAC gnomAD
TCGA novel	140	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs144922233 CA3561555	140	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	140	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs200833313 CA3561554	142	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs200833313 CA362144331	142	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs201056900 CA132170189	143	G>V		No	ClinGen TOPMed gnomAD
rs1561904968 CA362144070	144	G>D		No	ClinGen Ensembl
rs368080609 COSM482523 CA132170186	144	G>S	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs149830191 CA3561532	145	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs973649149 CA132170178	146	Q>K		No	ClinGen TOPMed
rs139843395 CA3561531	148	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362144042 rs1449322231	149	V>M		No	ClinGen gnomAD
rs752411983 CA3561530	151	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1246166974 CA362144026	151	P>L		No	ClinGen TOPMed gnomAD
CA362144024 rs1246166974	151	P>R		No	ClinGen TOPMed gnomAD
rs752411983 CA362144027	151	P>S		No	ClinGen ExAC TOPMed gnomAD
CA362144019 rs1307603928	152	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	155	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1197198726 CA362143993	156	Q>*		No	ClinGen TOPMed
CA362143983 rs1236189655	157	Y>C		No	ClinGen gnomAD
rs1273037899 CA362143973	159	V>M		No	ClinGen TOPMed
CA362143949 rs1434431642	162	N>K		No	ClinGen gnomAD
rs772957262 CA3561524	164	Q>K		No	ClinGen ExAC
CA362143937 rs1248371137	164	Q>R		No	ClinGen TOPMed
rs769305311 CA3561522	165	K>N		No	ClinGen ExAC gnomAD
rs761475512 CA3561521	166	Q>E		No	ClinGen ExAC gnomAD
CA3561520 rs777163334 COSM3429287	169	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA362143890 rs367642322	170	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs780696291 CA3561517	171	I>M		No	ClinGen ExAC gnomAD
CA362143868 rs1476756868	174	S>G		No	ClinGen gnomAD
CA362143866 rs1270337742	174	S>N		No	ClinGen gnomAD
CA362143861 rs374467295 CA362143860	175	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3561515 rs374467295	175	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779245304 CA3561514	177	Q>K		No	ClinGen ExAC gnomAD
rs757443743 CA3561513	177	Q>R		No	ClinGen ExAC gnomAD
CA3561512 rs754053518	178	V>M		No	ClinGen ExAC gnomAD
CA362143824 rs1440830135	181	I>V		No	ClinGen TOPMed
rs1217911974 CA362143815	182	I>N		No	ClinGen gnomAD
CA362143811 rs1581275557	183	E>K		No	ClinGen Ensembl
CA3561511 rs780971723	184	K>E		No	ClinGen ExAC gnomAD
rs1301632603 CA362143792	185	N>S		No	ClinGen TOPMed
TCGA novel	188	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362143759 rs1421391280	188	G>D		No	ClinGen TOPMed gnomAD
rs1428807965 CA362143753	189	W>*		No	ClinGen gnomAD
rs569267612 CA3561487	190	W>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3561485 rs763810720	192	V>I		No	ClinGen ExAC gnomAD
CA362143726 rs1198529060	193	S>G		No	ClinGen gnomAD
rs776019100 CA3561483	194	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362143715 rs776019100	194	T>N		No	ClinGen ExAC TOPMed gnomAD
rs201031404 CA3561482	195	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1228236131 CA362143711	195	A>V		No	ClinGen gnomAD
CA3561479 rs374493298	196	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3561478 rs749334370	196	E>V		No	ClinGen ExAC gnomAD
rs1561902702 CA362143685	199	G>S		No	ClinGen Ensembl
CA132168194 rs754732005	203	A>T		No	ClinGen Ensembl
CA3561477 rs773471152	204	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1581272880 CA362143645	205	C>Y		No	ClinGen Ensembl
CA362143637 rs979306407	206	L>P		No	ClinGen TOPMed
CA132168179 rs979306407	206	L>R		No	ClinGen TOPMed
TCGA novel	207	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561474 rs779715325	207	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1462025824 CA362143613	210	D>H		No	ClinGen gnomAD
TCGA novel	212	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA362143595 rs1581272852	212	V>G		No	ClinGen Ensembl
CA362143571 rs1581272848	215	E>D		No	ClinGen Ensembl
rs745849269 CA3561472	217	S>P		No	ClinGen ExAC gnomAD
CA3561473 rs745849269	217	S>T		No	ClinGen ExAC gnomAD
rs1757336659 RCV001341142	219	Q>H		No	ClinVar dbSNP
CA3561470 rs756869968	220	P>L		No	ClinGen ExAC
rs753379729 CA3561469	222	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762010216	224	E>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561447 rs752352620	225	K>R		No	ClinGen ExAC gnomAD
rs763454697 CA3561442	229	I>T		No	ClinGen ExAC gnomAD
rs1159666601 CA362143458	230	Y>C		No	ClinGen gnomAD
rs1466030432 CA362143453	231	P>A		No	ClinGen gnomAD
CA362143449 rs1376425621	231	P>L		No	ClinGen gnomAD
rs1376425621 RCV001306230	231	P>Q		No	ClinVar dbSNP
CA3561438 rs373756241	235	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761875763 CA3561439	235	R>W		No	ClinGen ExAC gnomAD
rs914466170 CA132165549	236	D>H		No	ClinGen TOPMed
CA362143417 rs1445075507	237	Q>K		No	ClinGen gnomAD
rs1367199640 CA362143407	238	D>G		No	ClinGen gnomAD
CA362143394 rs1263518949	240	M>V		No	ClinGen gnomAD
rs1439604724 CA362143381	241	N>I		No	ClinGen TOPMed
CA3561437 rs768902280	242	L>P		No	ClinGen ExAC gnomAD
CA362143364 rs1199308714	244	R>K		No	ClinGen TOPMed
rs755009239 CA132165533	247	V>M		No	ClinGen Ensembl
CA362143319 rs1344265626	251	I>N		No	ClinGen gnomAD
TCGA novel	252	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362143303 rs1270804203	253	K>R		No	ClinGen gnomAD
CA362143276 rs1237653766	257	G>S		No	ClinGen TOPMed
rs975027966 CA132164279	263	Y>C		No	ClinGen TOPMed
rs1193860375 CA362142875	265	G>D		No	ClinGen TOPMed
rs1445235842 CA362142878	265	G>S		No	ClinGen gnomAD
rs1201888546 CA362142864	267	E>K		No	ClinGen gnomAD
rs1438996793 CA362142859	267	E>V		No	ClinGen gnomAD
rs767993142 CA3561410	269	W>C		No	ClinGen ExAC
CA362142837 rs1208805918	270	A>V		No	ClinGen gnomAD
COSM76409	272	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561409 COSM1581731 rs201224113	272	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	276	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758799945 CA3561407	277	K>E		No	ClinGen ExAC gnomAD
rs1554135327 CA362142784	278	N>K		No	ClinGen Ensembl
rs779200934 CA3561404	279	S>G		No	ClinGen ExAC gnomAD
CA362142773 rs757814556	280	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3561403 rs757814556	280	G>E		No	ClinGen ExAC TOPMed gnomAD
rs764252514 CA3561401	282	P>H		No	ClinGen ExAC TOPMed gnomAD
rs886042037 RCV000357597	283	L>missing		No	ClinVar dbSNP
CA3561398 rs150388601 COSM1731116	283	L>F	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs553059313 CA3561399	283	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1470883147 CA362142748 COSM1436044	284	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	284	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561397 rs759780509	285	P>A		No	ClinGen ExAC gnomAD
rs141428218 CA3561396	285	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362142746 rs759780509	285	P>S		No	ClinGen ExAC gnomAD
CA362142721 rs1223712482	289	P>S		No	ClinGen TOPMed gnomAD
CA362142712 rs1383055589	290	G>V		No	ClinGen TOPMed
CA362142706 rs761819354	291	S>*		No	ClinGen ExAC gnomAD
CA3561394 rs761819354	291	S>L		No	ClinGen ExAC gnomAD
CA3561393 rs776418736	292	P>L		No	ClinGen ExAC gnomAD
CA362142701 rs1225915901	292	P>T		No	ClinGen TOPMed gnomAD
rs1263130107 CA362142672	294	H>R		No	ClinGen TOPMed
RCV000998492 rs77955907 CA3561392	295	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs995635334 CA132164222	296	G>C		No	ClinGen Ensembl
CA3561389 rs771735428	298	L>R		No	ClinGen ExAC TOPMed gnomAD
rs745483057 CA3561388	301	D>N		No	ClinGen ExAC TOPMed gnomAD
CA362142580 rs745483057	301	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs779254141 CA3561387	303	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3561386 rs757510919	305	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA362142512 rs1387014767	306	Q>R		No	ClinGen TOPMed
rs756260892 CA3561383 RCV001321450	307	Q>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3561384 rs778141970	307	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA3561382 rs752844424	308	N>Y		No	ClinGen ExAC gnomAD
COSM1436043 CA3561381 rs200725740	309	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA362142458 rs1278511262	310	V>G		No	ClinGen gnomAD
CA3561378 rs765136916	310	V>M		No	ClinGen ExAC TOPMed gnomAD
CA362142442 rs1221789004	312	R>G		No	ClinGen gnomAD
COSM6170636	314	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561377 rs761507282	315	E>K		No	ClinGen ExAC gnomAD
rs776669729 CA3561376	315	E>V		No	ClinGen ExAC gnomAD
rs1263506150 CA362142360	317	L>P		No	ClinGen TOPMed
CA362142345 rs1239019426	318	S>N		No	ClinGen gnomAD
CA3561374 rs760559564	319	S>R		No	ClinGen ExAC gnomAD
CA362142301 rs1286973597	321	R>K		No	ClinGen gnomAD
rs1335953042 CA362142267	323	G>A		No	ClinGen gnomAD
rs1335953042 CA362142271	323	G>E		No	ClinGen gnomAD
CA132164178 rs932019598	324	R>Q		No	ClinGen TOPMed gnomAD
CA3561371 RCV000881376 rs199739437 COSM1543267	324	R>W	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs773866528 CA3561370	325	F>Y		No	ClinGen ExAC gnomAD
rs771397027 CA3561369 COSM4851494	326	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
CA3561368 rs749588401	327	G>D		No	ClinGen ExAC gnomAD
CA3561366 rs770233178	328	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748596484 CA3561365	328	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362142201 rs748596484	328	R>L		No	ClinGen ExAC TOPMed gnomAD
rs867577699 CA132164160	329	P>S		No	ClinGen Ensembl
CA3561362 rs751896430	331	P>L		No	ClinGen ExAC gnomAD
rs1263900511 CA362142167	331	P>S		No	ClinGen gnomAD
rs757123247 CA3561360	332	D>N		No	ClinGen ExAC gnomAD
CA362142128 rs1336013217	334	D>N		No	ClinGen gnomAD
TCGA novel	335	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561356 rs752574042	335	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA3561355 rs767075574	338	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3561337 rs145343254	341	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3561336 rs751057399	343	R>K		No	ClinGen ExAC gnomAD
CA362141607 rs1490267498	343	R>W		No	ClinGen gnomAD
CA362141589 rs1581264581	345	R>S		No	ClinGen Ensembl
rs1361251205 CA362141582	346	P>L		No	ClinGen gnomAD
TCGA novel	347	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs370253866 CA3561334	347	P>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	348	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362141568 rs1315029971 COSM3827692	349	R>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
CA362141567 rs1393888000	349	R>H		No	ClinGen TOPMed
rs772902553 CA3561333	350	R>Q		No	ClinGen ExAC gnomAD
rs1311003368 CA362141564	350	R>W		No	ClinGen TOPMed
rs367728698 CA3561331	351	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA362141547 rs1407183997	352	M>I		No	ClinGen gnomAD
CA3561330 rs777326604	352	M>V		No	ClinGen ExAC gnomAD
rs769306153 CA3561329	353	T>A		No	ClinGen ExAC gnomAD
rs764014429 CA132162513	354	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3561328 rs747509586	354	I>V		No	ClinGen ExAC gnomAD
CA3561301 rs543644156	355	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs145215054 RCV001296502 CA3561300	356	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362141499 rs1581263832	359	N>T		No	ClinGen Ensembl
rs753485676 CA3561298	361	P>L		No	ClinGen ExAC gnomAD
rs1258967003 CA362141487 COSM208059	361	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs907665173 CA132161540	362	K>M		No	ClinGen TOPMed
CA3561295 rs753188415	366	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3561293 rs759913471	367	P>A		No	ClinGen ExAC
rs886043480 RCV000387121	368	Q>missing		No	ClinVar dbSNP
CA132161479 rs917315830	368	Q>R		No	ClinGen TOPMed
rs774449457 CA3561292	369	V>E		No	ClinGen ExAC gnomAD
rs763216426 CA3561290	370	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1048378228 CA132161442	370	E>K		No	ClinGen TOPMed gnomAD
CA3561291 rs555487078	370	E>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM1543268 rs1408830667 CA362141413 COSM6170638	373	Y>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed
CA132161437 rs765193122	373	Y>H		No	ClinGen TOPMed
rs768373135 CA3561288	375	T>A		No	ClinGen ExAC gnomAD
rs779664507 COSM208058 CA3561286	377	A>T	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1193667826 CA362141385	378	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	379	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3614196	380	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs150648145 CA3561284	381	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362141351 rs1275846164	382	T>I		No	ClinGen gnomAD
COSM3696842	386	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561280 rs777452588	386	G>S		No	ClinGen ExAC TOPMed gnomAD
CA362141285 rs1326915275	392	G>D		No	ClinGen gnomAD
rs760096210 CA3561276	392	G>R		No	ClinGen ExAC gnomAD
rs760096210 CA3561277	392	G>S		No	ClinGen ExAC gnomAD
rs369123624 CA3561273	396	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3853742	397	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767413669 CA3561251	399	E>K		No	ClinGen ExAC TOPMed gnomAD
rs866340183 CA132184809	403	S>G		No	ClinGen Ensembl
rs759376561 CA3561250	404	G>S		No	ClinGen ExAC gnomAD
rs1561891724 CA362148906 CA362148904	405	W>C		No	ClinGen Ensembl
CA3561249 rs202063864	406	W>G		No	ClinGen ExAC gnomAD
CA3561246 rs201017228	407	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749200235 CA3561247	407	Y>C		No	ClinGen ExAC gnomAD
CA3561248 rs771017390	407	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA132184798 rs771017390	407	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs557204946 CA132184778	408	I>F		No	ClinGen 1000Genomes gnomAD
rs557204946 CA132184782	408	I>L		No	ClinGen 1000Genomes gnomAD
rs557204946 CA362148876	408	I>V		No	ClinGen 1000Genomes gnomAD
rs780672371 CA3561243	409	Q>*		No	ClinGen ExAC
CA3561244 rs780672371	409	Q>E		No	ClinGen ExAC
rs747393323 CA3561242	409	Q>L		No	ClinGen ExAC
rs747393323 CA3561241	409	Q>P		No	ClinGen ExAC
CA3561239 rs758908295	410	I>T		No	ClinGen ExAC gnomAD
rs780354521 CA3561240	410	I>V		No	ClinGen ExAC gnomAD
rs750836611 CA3561238	413	K>E		No	ClinGen ExAC gnomAD
rs1581259758 CA362148768	415	G>A		No	ClinGen Ensembl
CA3561236 rs369606134	418	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3561235 rs369606134	418	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA362148682 rs1420591406	422	I>T		No	ClinGen TOPMed
rs376004348 CA3561232	426	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3561230 rs763001271	428	T>A		No	ClinGen ExAC
rs773015718 CA3561229	428	T>M		No	ClinGen ExAC TOPMed gnomAD
COSM3853741	429	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561224 rs534796248	431	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142779141 CA362148550	431	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs142779141 CA3561225	431	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3561223 rs534796248	431	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1487056720 CA362148536	432	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3561221 rs367686820	433	R>S		No	ClinGen ESP ExAC gnomAD
CA3561219 rs753887482	434	P>S		No	ClinGen ExAC gnomAD
CA3561218 rs777964124	436	F>S		No	ClinGen ExAC gnomAD
CA132184626 rs996145468	438	A>T		No	ClinGen TOPMed
TCGA novel	439	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM270137 rs1268362927 CA362148447	441	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	442	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA132184593 COSM1310968 rs138949033	443	E>K	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs765107395 CA3561212	446	Q>H		No	ClinGen ExAC gnomAD
CA3561210 rs141993560	448	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA132184582 rs1004143265	450	G>W		No	ClinGen gnomAD
CA362148339 rs1303533293	451	E>K		No	ClinGen TOPMed
rs1243057853 CA362148300	454	A>G		No	ClinGen TOPMed gnomAD
rs1243057853 CA362148298	454	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	456	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779290254 CA3561204	457	N>T		No	ClinGen ExAC gnomAD
rs538635661 CA362148239	459	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3561203 rs538635661	459	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362148228 rs1230324305	460	G>D		No	ClinGen gnomAD
rs1272297626 CA362148232	460	G>S		No	ClinGen gnomAD
rs1255107304 CA362148221	461	S>G		No	ClinGen gnomAD
CA3561201 rs778016569	461	S>I		No	ClinGen ExAC gnomAD
CA3561199 rs753004133	462	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs550449429 CA3561198	464	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3561195 rs530268917	466	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs530268917 CA362148153	466	P>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM3919698	467	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA132184471 rs144424788	468	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3561192 rs753761917	468	R>W		No	ClinGen ExAC TOPMed gnomAD
CA362148125 rs1425655297	469	P>S		No	ClinGen TOPMed gnomAD
rs1326389699 CA362148116	470	L>V		No	ClinGen TOPMed gnomAD
rs1257006846 CA362148108	471	P>A		No	ClinGen gnomAD
CA362148087 rs201664516	472	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3561189 rs760147022	472	D>H		No	ClinGen ExAC gnomAD
rs776911752 CA3561187	473	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3561186 rs759190450	473	A>V		No	ClinGen ExAC gnomAD
rs528214105 CA3561185	474	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362148071 rs1176856627	474	P>S		No	ClinGen TOPMed
CA362148030 rs1173526820	476	G>A		No	ClinGen TOPMed
CA362148032 rs1242577988	476	G>C		No	ClinGen gnomAD
rs748257187 CA3561181	478	M>I		No	ClinGen ExAC TOPMed gnomAD
rs770039296 CA3561182	478	M>L		No	ClinGen ExAC TOPMed gnomAD
CA132184393 rs760627976	478	M>R		No	ClinGen Ensembl
CA362147974 rs781378826	480	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM3429286 CA3561180 rs781378826	480	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747195368 CA3561178	481	G>R		No	ClinGen ExAC gnomAD
COSM6170639	481	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362147937 rs1410861721	483	P>L		No	ClinGen gnomAD
rs778628862 CA3561177	484	W>R		No	ClinGen ExAC gnomAD
TCGA novel	487	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362147873 COSM449332 rs1459932052	488	W>C	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs200664799 CA132184349	488	W>R		No	ClinGen 1000Genomes
CA362147858 rs1369540626	490	G>S		No	ClinGen TOPMed gnomAD
rs886060422 CA362147842	491	S>I		No	ClinGen TOPMed gnomAD
CA3561175 rs753812941	492	K>T		No	ClinGen ExAC gnomAD
CA132184326 rs945034807	493	D>G		No	ClinGen Ensembl
CA362147794 rs1490241569	494	V>A		No	ClinGen gnomAD
rs752236934 CA3561172	498	A>V		No	ClinGen ExAC gnomAD
CA3561171 rs766988323	499	S>P		No	ClinGen ExAC gnomAD
TCGA novel	500	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3561170 rs759125971 CA362147744	501	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1237708560 CA362147741	502	M>V		No	ClinGen TOPMed gnomAD
CA132184314 rs947515698	503	S>P		No	ClinGen TOPMed
CA3561169 rs774043886	504	A>V		No	ClinGen ExAC gnomAD
CA3561167 rs146888830	505	S>*		No	ClinGen ESP ExAC gnomAD
CA3561166 rs146888830	505	S>L		No	ClinGen ESP ExAC gnomAD
CA362147711 rs1344439478	507	G>D		No	ClinGen gnomAD
rs748596626 CA3561164	509	E>K		No	ClinGen ExAC gnomAD
rs776585646 CA3561162	512	S>L		No	ClinGen ExAC gnomAD
CA362147667 rs1266749154	513	D>E		No	ClinGen TOPMed
rs563480653 CA3561161	514	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3561160 rs563480653	514	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA362147665 rs1477433783	514	P>S		No	ClinGen TOPMed gnomAD
rs62621449 CA362147660	515	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362147653 CA362147654 rs1480272069	516	M>L		No	ClinGen TOPMed gnomAD
CA362147652 rs1480272069	516	M>V		No	ClinGen TOPMed gnomAD
rs921050849 CA132184264	517	E>G		No	ClinGen Ensembl
CA362147617 rs1427448254	520	P>L		No	ClinGen gnomAD
CA3561157 rs574600369	521	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777505150 CA3561156	522	L>F		No	ClinGen ExAC gnomAD
COSM4831331	522	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA132184235 rs534476356	525	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3561153 rs534476356	525	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs752576211 CA3561154	525	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1208801614 CA362147582	527	E>*		No	ClinGen gnomAD
rs148729326 CA132184226	530	I>M		No	ClinGen ESP
rs974799797 CA132184229	530	I>V		No	ClinGen TOPMed gnomAD
CA3561151 rs751214999	532	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs184298693 CA362147536	533	E>D		No	ClinGen 1000Genomes gnomAD
CA362147541 rs1217978741	533	E>K		No	ClinGen TOPMed
TCGA novel	538	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs368451759 CA132184171	538	E>A		No	ClinGen ESP TOPMed
rs199704139 CA3561145	539	R>G		No	ClinGen ExAC TOPMed gnomAD
CA362147505 rs886239248	539	R>P		No	ClinGen TOPMed
CA3561144 COSM1581730 rs199704139	539	R>W	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA362147503 rs141493467	540	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs141493467 CA3561142	540	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3561141 rs775382985	541	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA362147495 rs1378037423 COSM267418	541	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
CA362147489 rs1561891122	542	E>A		No	ClinGen Ensembl
rs772313508 CA3561140	543	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1026559997 CA362147483	543	R>W		No	ClinGen TOPMed gnomAD
rs538706044 COSM3853739 CA3561136	546	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3561137 rs746024003	546	T>S		No	ClinGen ExAC gnomAD
CA362147457 rs1345246710	547	E>G		No	ClinGen gnomAD
CA3561134 rs748103641	548	Q>H		No	ClinGen ExAC gnomAD
rs372106585 CA3561133	549	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452043878 CA362147440	550	R>Q		No	ClinGen gnomAD
rs374594864 CA3561132	550	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362147434 rs1336222074	551	G>D		No	ClinGen gnomAD
rs751108167 CA3561131	552	P>A		No	ClinGen ExAC gnomAD
rs1336298982 CA362147421	553	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362147426 rs1581259198	553	T>P		No	ClinGen Ensembl
rs1167791216 CA362147418	554	P>H		No	ClinGen gnomAD
CA3561130 rs779361000	554	P>S		No	ClinGen ExAC gnomAD
CA362147414 rs1427512012	555	K>E		No	ClinGen gnomAD
CA3561128 rs139306925	557	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3561126 rs536952235	558	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764684802 CA3561124	558	G>V		No	ClinGen ExAC gnomAD
CA3561122 rs775645752 COSM226152	559	V>M	lung NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM449331	560	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs147475342 CA3561121	562	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV000729128 rs147475342 CA132183948	562	P>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3561118 rs769620312	563	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3561119 rs774555263	563	M>T		No	ClinGen ExAC gnomAD
CA362147357 rs1581259130	564	M>I		No	ClinGen Ensembl
rs747957440 CA3561117	564	M>V		No	ClinGen ExAC gnomAD
CA362147349 rs1354820151 COSM1620055	565	P>L	liver haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1245592552 CA362147346	566	A>S		No	ClinGen gnomAD
rs768640465 CA3561115	568	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs567930218 CA3561114	569	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757975252 CA3561112	570	P>A		No	ClinGen ExAC gnomAD
CA362147321 rs757975252	570	P>T		No	ClinGen ExAC gnomAD
rs111230322 CA3561110	571	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754260300 CA3561108	572	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362147306 rs147231839	573	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001302830 rs147231839 CA3561107	573	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201601282 CA132183862	573	R>W		No	ClinGen TOPMed gnomAD
CA3561106 rs761259375	577	R>K		No	ClinGen ExAC gnomAD
CA362147280 rs1410806750	577	R>W		No	ClinGen TOPMed gnomAD
COSM3614194	578	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753133269 CA3561105	581	K>R		No	ClinGen ExAC gnomAD
rs1253039150 CA362147242	583	D>N		No	ClinGen gnomAD
rs1222205001 CA362147218	586	R>G		No	ClinGen gnomAD
CA3561103 rs759584597	591	K>R		No	ClinGen ExAC gnomAD
CA3561102 rs774608699	592	N>D		No	ClinGen ExAC gnomAD
TCGA novel	592	N>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA3561100 rs763014228	594	M>I		No	ClinGen ExAC gnomAD
rs766615424 CA362147163	594	M>L		No	ClinGen ExAC TOPMed gnomAD
COSM284964	594	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA132183773 rs1026928474	594	M>T		No	ClinGen Ensembl
CA3561101 rs766615424	594	M>V		No	ClinGen ExAC TOPMed gnomAD
CA362147122 rs1561890940	600	H>Y		No	ClinGen Ensembl
COSM737701	601	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs559517729 CA362147113	601	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs559517729 CA3561098	601	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs747032111 CA3561097	602	V>A		No	ClinGen ExAC gnomAD
CA362147109 rs1288815002	602	V>I		No	ClinGen gnomAD
rs1325396642 CA362147085	605	K>N		No	ClinGen gnomAD
CA362147087 rs1348056541	605	K>R		No	ClinGen gnomAD
rs568928528 CA132183745	607	V>L		No	ClinGen Ensembl
rs1387336836 CA362147068	608	K>*		No	ClinGen gnomAD
rs775536390 CA362147044	611	N>I		No	ClinGen ExAC gnomAD
rs775536390 CA3561096	611	N>S		No	ClinGen ExAC gnomAD
rs775536390 CA362147045	611	N>T		No	ClinGen ExAC gnomAD
CA3561095 rs756935357	612	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3561094 rs745393171	613	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA132183717 rs958705626	613	R>W		No	ClinGen TOPMed gnomAD
COSM3614192	614	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA132183695 rs1002957814	614	P>R		No	ClinGen Ensembl
rs778527295 CA3561093	614	P>T		No	ClinGen ExAC gnomAD
rs748835403 CA3561090	615	I>V		No	ClinGen ExAC gnomAD
COSM3614191	616	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778260997 CA3561089	617	K>R		No	ClinGen ExAC gnomAD
rs756433282 CA3561088	618	S>C		No	ClinGen ExAC gnomAD
rs1581258914 CA362146986	621	D>A		No	ClinGen Ensembl
CA362146985 rs1210657401	621	D>E		No	ClinGen gnomAD
rs753246607 CA3561087	623	P>L		No	ClinGen ExAC gnomAD
CA362146976 rs1330100059	623	P>S		No	ClinGen gnomAD
TCGA novel	624	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA362146969 rs1561890845	624	E>G		No	ClinGen Ensembl
COSM3429285	625	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362146938 rs1364366287	628	D>E		No	ClinGen gnomAD
CA3561084 rs551814886	628	D>V		No	ClinGen ExAC TOPMed gnomAD
CA132183638 rs1020456906	628	D>Y		No	ClinGen Ensembl
rs751639524 CA3561083	629	A>V		No	ClinGen ExAC gnomAD
rs141783206 CA3561080	630	T>I		No	ClinGen ESP ExAC TOPMed
rs552297069 CA3561081	630	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA362146931 rs552297069	630	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA362146929 rs141783206	630	T>S		No	ClinGen ESP ExAC TOPMed
rs1561890816 CA362146923	631	P>L		No	ClinGen Ensembl
COSM4894847	631	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs974452914 CA132183622	632	Q>P		No	ClinGen TOPMed gnomAD
rs763988022 CA3561079	633	N>S		No	ClinGen ExAC gnomAD
TCGA novel	635	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1174937089 CA362146880	637	K>N		No	ClinGen TOPMed
CA3561078 rs201610155	637	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362146875 rs1192140778	638	S>F		No	ClinGen gnomAD
CA3561076 rs563300243	639	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA362146868 rs563300243	639	R>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	641	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1255649132 CA362146831	642	V>G		No	ClinGen TOPMed gnomAD
rs774019142 CA3561074	642	V>I		No	ClinGen ExAC gnomAD
CA3561073 rs770323424	646	P>S		No	ClinGen ExAC gnomAD
TCGA novel	646	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749007960 CA3561072	647	A>P		No	ClinGen ExAC TOPMed gnomAD
CA132183570 rs753591975	648	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	648	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA362146747 rs1403821737	651	K>Q		No	ClinGen TOPMed
CA3561071 rs148050566	652	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM284963	654	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1376414024 CA362146681	655	P>R		No	ClinGen TOPMed
TCGA novel	658	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1365359711 CA362146641	658	E>K		No	ClinGen gnomAD
rs781465468 CA3561066	659	D>A		No	ClinGen ExAC gnomAD
rs1301722100 CA362146624	659	D>N		No	ClinGen gnomAD
rs148816682 CA3561063	663	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758405465 CA3561062	664	C>R		No	ClinGen ExAC gnomAD
rs1284013334 CA362146545	664	C>Y		No	ClinGen Ensembl
CA3561061 rs779604984	665	N>H		No	ClinGen ExAC TOPMed gnomAD
CA3561060 rs144252446	665	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779604984 CA132183512	665	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3561059 rs762061325	666	L>F		No	ClinGen ExAC TOPMed gnomAD
CA362146531 rs1180186910	666	L>R		No	ClinGen gnomAD
CA362146530 rs1484393279	667	R>G		No	ClinGen gnomAD
CA3561057 rs767370493	669	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM72627	671	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV000896886 rs571908508 CA3561055	673	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1308004094 CA362146454	678	K>E		No	ClinGen gnomAD
rs762353363 CA3561053	679	S>F		No	ClinGen ExAC TOPMed gnomAD
rs919807403 CA132183432	680	L>V		No	ClinGen TOPMed
rs1350586808 CA362146425	682	D>G		No	ClinGen TOPMed gnomAD
CA132183429 rs767940934	682	D>H		No	ClinGen Ensembl
rs138477347 CA3561051	684	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747754861 CA3561050	685	G>A		No	ClinGen ExAC gnomAD
rs1581258694 CA362146394	687	Q>R		No	ClinGen Ensembl
rs1431020262 CA362146382	689	V>L		No	ClinGen gnomAD
rs1239455539 CA362146376	690	G>R		No	ClinGen Ensembl
rs755625941 CA3561049	691	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768981267 CA132183371	691	G>D		No	ClinGen ExAC TOPMed gnomAD
CA362146371 rs755625941	691	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3561048 rs768981267	691	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1414837054 CA362146353	694	V>M		No	ClinGen gnomAD
CA3561045 rs758884359	695	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1482180162 CA362146334	697	S>G		No	ClinGen gnomAD
rs1249435906 CA362146325	698	R>*		No	ClinGen TOPMed gnomAD
CA132183299 rs747456932	699	S>N		No	ClinGen TOPMed gnomAD
COSM4476902	702	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362146297 rs1441376686	702	P>R		No	ClinGen gnomAD
rs779011230 CA3561043	703	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM6170640	704	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1581258624 CA362146272	706	P>R		No	ClinGen Ensembl
rs757574607 CA3561042	707	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3561040 rs545491323	708	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3561041 rs545491323	708	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs759399077 CA3561039	708	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201406507 CA3561037	709	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs140679646 CA3561036 RCV000895787	710	Q>E		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA362146255 rs1478058159	710	Q>R		No	ClinGen gnomAD
rs769329415 CA3561034	711	D>N		No	ClinGen ExAC gnomAD
rs761496016 CA3561033	712	R>G		No	ClinGen ExAC gnomAD
rs776263829 CA3561032	712	R>S		No	ClinGen ExAC gnomAD
rs200089592 CA3561031	713	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1419415861 CA362146215	716	Q>P		No	ClinGen gnomAD
rs778908491 CA3561026	718	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3561027 rs746336600	718	G>S		No	ClinGen ExAC gnomAD
rs1164820181 CA362146197	719	L>F		No	ClinGen TOPMed
COSM72626	725	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561024 rs754177459	725	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs536215420 CA132183206	726	C>R		No	ClinGen 1000Genomes
CA362146146 rs1033641429	726	C>W		No	ClinGen gnomAD
rs778124912 CA3561023	727	R>T		No	ClinGen ExAC gnomAD
rs756344289 CA3561022	728	A>P		No	ClinGen ExAC gnomAD
COSM3614189	728	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3561021 rs766153965	730	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA362146117 rs1299614380	731	R>S		No	ClinGen TOPMed gnomAD
rs146845764 CA132183112	733	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs146845764 CA3561018	733	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA362146100 rs1372348315	734	K>T		No	ClinGen gnomAD
CA3561017 rs143940296	737	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318164349 CA362146060	737	D>Y		No	ClinGen TOPMed
CA362146048 rs761301784	738	P>A		No	ClinGen ExAC gnomAD
CA362146040 rs1391152874	738	P>R		No	ClinGen gnomAD
CA3561016 rs761301784	738	P>T		No	ClinGen ExAC gnomAD
COSM4844666	740	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1376900094 CA362145994	742	S>N		No	ClinGen gnomAD
rs1039344303 CA362145988	742	S>R		No	ClinGen TOPMed gnomAD
rs763742230 CA3561013	743	V>A		No	ClinGen ExAC gnomAD
rs202052552 CA3561012	744	P>S		No	ClinGen ExAC gnomAD
TCGA novel	745	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1463130620 CA362145965	745	V>I		No	ClinGen gnomAD
COSM6170641	746	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM106655 CA132183055 rs149362550	748	Q>*	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775740478 CA3561011	748	Q>L		No	ClinGen ExAC gnomAD
rs1348936415 CA362145897	750	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA362145903 rs1205404871	750	A>T		No	ClinGen gnomAD
CA132183046 rs1046822852	751	P>S		No	ClinGen Ensembl
rs772460017 CA3561010	752	Q>P		No	ClinGen ExAC gnomAD
rs373626183 CA3561009	753	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774915810 CA3561008	754	R>I		No	ClinGen ExAC gnomAD
rs774915810 CA362145848	754	R>K		No	ClinGen ExAC gnomAD
rs749390533 CA3561006	755	P>L		No	ClinGen ExAC gnomAD
rs908905584 CA132183012	755	P>S		No	ClinGen TOPMed
rs372424713 CA3561005	757	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs867924828 CA132182984 COSM3919697	758	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	759	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1319032853 CA362145797	759	P>S		No	ClinGen gnomAD
rs199590644 CA3561004 RCV001323866	760	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3561003 rs748349654	760	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	760	R>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA132182958 rs937234068	761	R>G		No	ClinGen TOPMed gnomAD
rs779758365 CA3561002	762	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1436276736 CA362145749	763	P>L		No	ClinGen TOPMed gnomAD
rs200957245 CA3561000	764	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs765174539 CA3560999	765	P>A		No	ClinGen ExAC gnomAD
rs1391522230 CA362145739	765	P>L		No	ClinGen gnomAD
rs369009969 CA3560998	768	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581258405 CA362145722	768	T>P		No	ClinGen Ensembl
CA362145710 rs1383409923	769	S>Y		No	ClinGen TOPMed
rs753378126 COSM5912339 CA3560997	770	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs992005890 CA132182935	773	R>G		No	ClinGen TOPMed
rs775175536 CA3560994	774	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753041286 CA3560995	774	P>T		No	ClinGen ExAC TOPMed gnomAD
CA362145680 rs1259684593	775	L>F		No	ClinGen TOPMed
CA362145678 rs1226897553	775	L>P		No	ClinGen gnomAD
CA3560992 rs759930390	776	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM263639	776	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3560991 rs377423936	778	V>I		No	ClinGen ESP ExAC gnomAD
rs771565324 CA3560990	779	R>T		No	ClinGen ExAC gnomAD
rs373458298 CA3560988	782	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3560987 rs769967641	783	C>Y		No	ClinGen ExAC gnomAD
rs142818364 CA3560986	787	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745682374 CA3560983	789	R>K		No	ClinGen ExAC gnomAD
rs1158134285 CA362145578	790	A>T		No	ClinGen gnomAD
CA362145573 rs1305865410	790	A>V		No	ClinGen Ensembl
CA3560982 rs778640595	791	A>S		No	ClinGen ExAC gnomAD
CA132182825 rs868544790	792	P>L		No	ClinGen Ensembl
rs201261081 CA3560981	793	T>I		No	ClinGen ExAC gnomAD
rs753753762 CA3560980	794	P>R		No	ClinGen ExAC gnomAD
CA3560979 rs777304919 COSM1672130	796	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755644957 CA3560978	796	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375700951 CA132182764	797	A>T		No	ClinGen ESP TOPMed gnomAD
rs759973468 RCV000350399	799	L>missing		No	ClinVar dbSNP
rs1354278433 CA362145513	802	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3560973 rs372034716	806	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3560972 rs372034716	806	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3560971 rs766796858	807	F>L		No	ClinGen ExAC gnomAD
rs763599720 CA3560970	807	F>Y		No	ClinGen ExAC gnomAD
CA362145461 rs1407695766	810	N>S		No	ClinGen gnomAD
rs369069648 CA3560969	811	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329401943 CA362145446	812	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	813	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376893926 CA3560968 CA3560967	813	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	814	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs776509593 CA362145437	814	G>D		No	ClinGen ExAC gnomAD
CA362145438 rs1234785897	814	G>S		No	ClinGen TOPMed
CA3560966 rs776509593	814	G>V		No	ClinGen ExAC gnomAD
rs747186088 CA3560962	815	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	815	Q>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA3560963 rs902037757	815	Q>R		No	ClinGen TOPMed gnomAD
CA3560961 rs778730283	817	D>G		No	ClinGen ExAC TOPMed gnomAD
rs777672562 CA3560958	818	T>K		No	ClinGen ExAC TOPMed gnomAD
rs777672562 CA3560959	818	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770680733 CA3560960	818	T>S		No	ClinGen ExAC gnomAD
rs752253034 COSM367410 CA362145411	819	R>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs752253034 CA3560956	819	R>G		No	ClinGen ExAC gnomAD
CA132182672 rs993937418	820	G>D		No	ClinGen TOPMed
rs1266432035 CA362145364	827	W>R		No	ClinGen gnomAD
CA362145349 rs1199714554	829	T>A		No	ClinGen TOPMed
CA3560951 rs763401726	830	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1279892453 CA362145333	831	K>N		No	ClinGen gnomAD
COSM737702	831	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA362145317 rs750761356	833	G>A		No	ClinGen ExAC gnomAD
CA3560950 rs750761356	833	G>E		No	ClinGen ExAC gnomAD
CA132182647 rs1038203145	834	E>K		No	ClinGen Ensembl
rs1327344968 CA362145300	836	R>G		No	ClinGen gnomAD
TCGA novel	837	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3560949 rs765781253	839	A>V		No	ClinGen ExAC gnomAD
rs1402062022 CA362145260	842	A>T		No	ClinGen TOPMed gnomAD
rs1409224266 CA362145255	842	A>V		No	ClinGen gnomAD
COSM5908570	843	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775684253 CA3560945	845	P>H		No	ClinGen ExAC gnomAD
rs775684253 CA3560944	845	P>L		No	ClinGen ExAC gnomAD
rs373421449 CA3560943	846	N>S		No	ClinGen ExAC TOPMed gnomAD
rs149498667 CA3560940	848	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1210870233 CA362145222	848	D>G		No	ClinGen gnomAD
CA3560941 rs147195586	848	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138100885 CA3560938	849	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1664152 CA362145209 rs1344766587	851	K>Q	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1342787610 CA362145184	854	L>S		No	ClinGen gnomAD
CA362145174 rs1441026094	855	Y>*		No	ClinGen gnomAD
rs919197314 CA132182536	855	Y>C		No	ClinGen TOPMed
rs919197314 CA362145176	855	Y>F		No	ClinGen TOPMed
CA362145164 rs1317918408	857	A>G		No	ClinGen gnomAD
CA3560935 RCV000728915 rs150789109	857	A>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1317918408 CA362145163	857	A>V		No	ClinGen gnomAD
CA3560933 rs758060713	858	V>M		No	ClinGen ExAC TOPMed gnomAD
rs371447542 CA132182510	859	A>V		No	ClinGen ESP TOPMed gnomAD
rs765472301 CA3560931	860	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367711319 CA362145144	861	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3560930 rs367711319	861	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3827691	863	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1174873107 CA362145115	865	K>Q		No	ClinGen gnomAD
CA132182493 rs1019129911	865	K>R		No	ClinGen Ensembl
rs200726088 CA132182477	867	T>A		No	ClinGen 1000Genomes TOPMed
rs1388476165 CA362145084	869	S>T		No	ClinGen gnomAD
CA3560928 rs764299887	871	Q>*		No	ClinGen ExAC gnomAD
rs1428244591 RCV000520948 CA362145053	873	G>A		No	ClinGen ClinVar TOPMed dbSNP
CA362145052 rs1428244591	873	G>V		No	ClinGen TOPMed
rs760729490 CA3560927	874	T>A		No	ClinGen ExAC TOPMed gnomAD
CA362145049 rs1237050955	874	T>I		No	ClinGen gnomAD
rs775488178 CA3560926	877	E>K		No	ClinGen ExAC gnomAD
rs759711428 CA3560923	879	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767729554 CA3560924	879	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3560922 rs773079634	880	E>*		No	ClinGen ExAC gnomAD
CA3560921 rs769448762 COSM5751077	882	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA362144983 rs1561889831	884	S>T		No	ClinGen Ensembl
rs1011604098 CA132182446	885	G>D		No	ClinGen TOPMed
CA3560919 rs527543309	885	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746524187 CA3560917	886	W>*		No	ClinGen ExAC gnomAD
CA3560918 rs768660238	886	W>L		No	ClinGen ExAC gnomAD
rs200047599 CA3560916	887	W>G		No	ClinGen ExAC gnomAD
rs758148533 CA3560915	888	F>V		No	ClinGen ExAC gnomAD
rs779376078 CA3560913	889	C>G		No	ClinGen ExAC
rs754425694 CA3560912	889	C>S		No	ClinGen ExAC
rs754425694 CA3560911	889	C>Y		No	ClinGen ExAC
CA362144947 rs372442552	890	Q>*		No	ClinGen ESP TOPMed
CA132182413 rs372442552	890	Q>E		No	ClinGen ESP TOPMed
rs1172633904 CA362144944	890	Q>H		No	ClinGen TOPMed gnomAD
rs764522829 CA3560910	890	Q>P		No	ClinGen ExAC
rs756544471 CA3560909	893	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3560908 rs774654339	894	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767533330 CA362144919	895	A>P		No	ClinGen ExAC gnomAD
rs767533330 CA3560907	895	A>T		No	ClinGen ExAC gnomAD
CA362144917 rs1476290190	895	A>V		No	ClinGen gnomAD
CA3560906 rs759801249	896	P>A		No	ClinGen ExAC gnomAD
rs564739133 CA132182399	898	W>*		No	ClinGen 1000Genomes
CA362144895 rs1561889739	899	E>K		No	ClinGen Ensembl
CA362144885 rs1211315571	900	G>W		No	ClinGen gnomAD
rs1482694613 CA362144879	901	W>G		No	ClinGen gnomAD
CA362144880 rs1482694613	901	W>R		No	ClinGen gnomAD
CA362144868 rs1258713514	902	I>S		No	ClinGen gnomAD
rs1357283223 CA362144865	903	P>T		No	ClinGen TOPMed
COSM3919696	904	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6170642	904	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA3560905 rs774402005	905	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	907	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA3560904 rs765142953	908	R>K		No	ClinGen ExAC gnomAD
CA362144785 rs1311349405	910	K>*		No	ClinGen gnomAD
CA3560902 rs201157559	911	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185109935 CA362144742	912	P>W		No	ClinGen TOPMed

1 associated diseases with A1X283

[MIM: 249420]: Frank-Ter Haar syndrome (FTHS)

A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. . Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for A1X283

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for A1X283

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, podosome	Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells
PANTHER Family	PTHR15706	SH3 MULTIPLE DOMAIN
PANTHER Subfamily	PTHR15706:SF25	SH3 AND PX DOMAIN-CONTAINING PROTEIN 2B
PANTHER Protein Class	scaffold/adaptor protein
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
podosome	An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.

5 GO annotations of molecular function

Name	Definition
phosphatidylinositol-3,5-bisphosphate binding	Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions.
phosphatidylinositol-3-phosphate binding	Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position.
phosphatidylinositol-5-phosphate binding	Binding to phosphatidylinositol-5-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 5' position.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
superoxide-generating NADPH oxidase activator activity	Binds to and increases the activity of the enzyme superoxide-generating NADPH oxidase.

11 GO annotations of biological process

Name	Definition
adipose tissue development	The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.
bone development	The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
extracellular matrix disassembly	A process that results in the breakdown of the extracellular matrix.
eye development	The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
podosome assembly	The aggregation, arrangement and bonding together of a set of components to form a podosome, an actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell.
protein localization to membrane	A process in which a protein is transported to, or maintained in, a specific location in a membrane.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
superoxide anion generation	The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways.
superoxide metabolic process	The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O00443	PIK3C2A	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Homo sapiens (Human)	PR
P14598	NCF1	Neutrophil cytosol factor 1	Homo sapiens (Human)	EV
Q5TCZ1	SH3PXD2A	SH3 and PX domain-containing protein 2A	Homo sapiens (Human)	SS
A6NI72	NCF1B	Putative neutrophil cytosol factor 1B	Homo sapiens (Human)	SS
A8MVU1	NCF1C	Putative neutrophil cytosol factor 1C	Homo sapiens (Human)	SS
Q61194	Pik3c2a	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Mus musculus (Mouse)	PR
O89032	Sh3pxd2a	SH3 and PX domain-containing protein 2A	Mus musculus (Mouse)	SS
A2AAY5	Sh3pxd2b	SH3 and PX domain-containing protein 2B	Mus musculus (Mouse)	SS
F1M707	Ncf1	Neutrophil cytosolic factor 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MPPRRSIVEV	KVLDVQKRRV	PNKHYVYIIR	VTWSSGSTEA	IYRRYSKFFD	LQMQMLDKFP
70	80	90	100	110	120
MEGGQKDPKQ	RIIPFLPGKI	LFRRSHIRDV	AVKRLIPIDE	YCKALIQLPP	YISQCDEVLQ
130	140	150	160	170	180
FFETRPEDLN	PPKEEHIGKK	KSGGDQTSVD	PMVLEQYVVV	ANYQKQESSE	ISLSVGQVVD
190	200	210	220	230	240
IIEKNESGWW	FVSTAEEQGW	VPATCLEGQD	GVQDEFSLQP	EEEEKYTVIY	PYTARDQDEM
250	260	270	280	290	300
NLERGAVVEV	IQKNLEGWWK	IRYQGKEGWA	PASYLKKNSG	EPLPPKPGPG	SPSHPGALDL
310	320	330	340	350	360
DGVSRQQNAV	GREKELLSSQ	RDGRFEGRPV	PDGDAKQRSP	KMRQRPPPRR	DMTIPRGLNL
370	380	390	400	410	420
PKPPIPPQVE	EEYYTIAEFQ	TTIPDGISFQ	AGLKVEVIEK	NLSGWWYIQI	EDKEGWAPAT
430	440	450	460	470	480
FIDKYKKTSN	ASRPNFLAPL	PHEVTQLRLG	EAAALENNTG	SEATGPSRPL	PDAPHGVMDS
490	500	510	520	530	540
GLPWSKDWKG	SKDVLRKASS	DMSASAGYEE	ISDPDMEEKP	SLPPRKESII	KSEGELLERE
550	560	570	580	590	600
RERQRTEQLR	GPTPKPPGVI	LPMMPAKHIP	PARDSRRPEP	KPDKSRLFQL	KNDMGLECGH
610	620	630	640	650	660
KVLAKEVKKP	NLRPISKSKT	DLPEEKPDAT	PQNPFLKSRP	QVRPKPAPSP	KTEPPQGEDQ
670	680	690	700	710	720
VDICNLRSKL	RPAKSQDKSL	LDGEGPQAVG	GQDVAFSRSF	LPGEGPGRAQ	DRTGKQDGLS
730	740	750	760	770	780
PKEISCRAPP	RPAKTTDPVS	KSVPVPLQEA	PQQRPVVPPR	RPPPPKKTSS	SSRPLPEVRG
790	800	810	820	830	840
PQCEGHESRA	APTPGRALLV	PPKAKPFLSN	SLGGQDDTRG	KGSLGPWGTG	KIGENREKAA
850	860	870	880	890	900
AASVPNADGL	KDSLYVAVAD	FEGDKDTSSF	QEGTVFEVRE	KNSSGWWFCQ	VLSGAPSWEG
910
WIPSNYLRKK	P