AiPD: Autoinhibited Protein Database

Q155Q3

Gene name	DIXDC1 (CCD1, KIAA1735)
Protein name	Dixin
Names	Coiled-coil protein DIX1 , Coiled-coil-DIX1 , DIX domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:85458
EC number
Protein Class

Descriptions

Coiled-coil protein DIX1 (Ccd1, Dixin) is an important positive regulator activating the canonical Wnt signaling pathway. The DIX domain of Ccd1 functions as a switching hub in the Wnt pathway via dynamic polymerization. Homopolymerization of the DIX domain is regulated by insertion of loop β1-β2 of the DIX domain into the head-to-tail interface, preventing the formation of head-to-tail helical filaments and consequently inhibiting its transcriptional activity. The autoinhibition of Ccd1 is relieved by co-expression of Dvl, binding to DISC1, and Cdk25- or MARK1/4-mediated phosphorylation.

Autoinhibitory domains (AIDs)

601-617 (β1-β2 loop) SS

Target domain	648-657 (β3-β4 loop)
Relief mechanism	Partner binding, PTM
Assay

AID

601-617 (β1-β2 loop)

Target domain

648-657 (β3-β4 loop)

Relief mechanism

Partner binding (Co-expression with Dvlor Binding to DISC1), PTM (Cdk25-mediated phosphorylation at Ser250, MARK1/4-mediated phosphorylation at Ser593)

Assay

Accessory elements

No accessory elements

References

Terawaki SI et al. (2017) "Structural basis for Ccd1 auto-inhibition in the Wnt pathway through homomerization of the DIX domain", Scientific reports, 7, 7739

Autoinhibited structure

Activated structure

2 structures for Q155Q3

Entry ID	Method	Resolution	Chain	Position	Source
3PZ7	X-ray	244 A	A	597-683	PDB
AF-Q155Q3-F1	Predicted				AlphaFoldDB

677 variants for Q155Q3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000787972 rs1419374563	265	R>*	Obesity [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1555168331	4	C>G		No	gnomAD
rs587684441	5	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs587684441	5	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1966250771	6	T>P		No	Ensembl
rs782261544	8	G>E		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	8	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1361426839	11	L>P		No	TOPMed gnomAD
rs782351278	11	L>V		No	ExAC TOPMed gnomAD
rs782174251	12	D>E		No	ExAC TOPMed gnomAD
rs1287181157	12	D>G		No	TOPMed gnomAD
TCGA novel	12	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782021968	13	V>D		No	ExAC
rs374654441	13	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1469068634	14	L>P		No	TOPMed gnomAD
TCGA novel	15	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1966252395	15	Q>P		No	TOPMed
rs1966252597	16	E>D		No	Ensembl
rs1966252490	16	E>G		No	Ensembl
rs201623951	17	G>A		No	ESP ExAC TOPMed gnomAD
rs201623951	17	G>D		No	ESP ExAC TOPMed gnomAD
rs199945833 RCV000901821	19	N>D		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376054752	19	N>S		No	ESP ExAC TOPMed gnomAD
rs199945833	19	N>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782586280	21	Q>K		No	ExAC TOPMed gnomAD
TCGA novel	22	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs587707665	25	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs782657124	26	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782657124	26	Y>F		No	ExAC TOPMed gnomAD
rs1555171315	27	V>L		No	gnomAD
rs1859667701	28	A>P		No	TOPMed
rs1555171317	29	W>*		No	gnomAD
rs1859667792	29	W>R		No	TOPMed
rs782205391	30	V>M		No	ExAC gnomAD
rs1859668050	31	N>Y		No	Ensembl
rs114492987	32	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs114492987	32	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1555171325	33	Q>*		No	gnomAD
rs1555171326	33	Q>L		No	TOPMed gnomAD
rs1859668751	37	R>K		No	Ensembl
rs1555171329	38	P>A		No	gnomAD
rs1555171329	38	P>T		No	gnomAD
rs1463343027	40	V>G		No	TOPMed gnomAD
rs1555171334	40	V>L		No	gnomAD
rs370213735	42	P>A		No	ESP ExAC TOPMed gnomAD
rs782180592	43	V>M		No	ExAC TOPMed gnomAD
rs782112283	44	Q>R		No	ExAC
rs1859670071	45	D>E		No	TOPMed gnomAD
rs782784972	45	D>N		No	ExAC TOPMed gnomAD
rs782784972	45	D>Y		No	ExAC TOPMed gnomAD
rs587646877	47	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs587646877	47	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs782103350	47	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs587726814	48	Q>*		No	1000Genomes ExAC TOPMed gnomAD
rs1859670562	49	D>E		No	TOPMed
rs781808669	49	D>H		No	ExAC gnomAD
rs782502774	51	R>L		No	ExAC TOPMed gnomAD
rs782502774	51	R>Q		No	ExAC TOPMed gnomAD
COSM3967307 rs1472099566	51	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1555171344	53	G>R		No	gnomAD
rs1555171346	54	V>M		No	gnomAD
rs1555171348	55	I>M		No	gnomAD
rs1859671551	55	I>T		No	Ensembl
rs1566495578	58	Y>H		No	Ensembl
rs1265189225	60	I>V		No	TOPMed gnomAD
rs377157480	61	E>K		No	ESP TOPMed gnomAD
rs1555171352	63	V>F		No	TOPMed gnomAD
rs986696519	64	A>T		No	gnomAD
rs782120627	65	G>E		No	ExAC gnomAD
rs1177890010	65	G>R		No	gnomAD
rs1859808405	66	E>G		No	Ensembl
rs1437323972	69	S>I		No	TOPMed gnomAD
rs1859808707	71	V>I		No	TOPMed
rs782728785	75	P>A		No	ExAC TOPMed gnomAD
rs782728785	75	P>S		No	ExAC TOPMed gnomAD
rs782728785	75	P>T		No	ExAC TOPMed gnomAD
rs782435560	76	G>S		No	ExAC TOPMed gnomAD
rs782684076	77	N>H		No	Ensembl
rs59408367	78	Q>E		No	Ensembl
rs1225198830	80	E>Q		No	TOPMed gnomAD
rs773928821	81	M>K		No	TOPMed gnomAD
rs773928821	81	M>T		No	TOPMed gnomAD
rs1859810187	86	E>Q		No	gnomAD
rs782726393	93	A>T		No	ExAC gnomAD
rs1859810976	94	S>F		No	Ensembl
rs1360552266	94	S>P		No	TOPMed
rs1859811072	95	K>E		No	TOPMed
rs1859811390	96	K>N		No	TOPMed gnomAD
rs781877693	96	K>Q		No	ExAC gnomAD
rs1859811489	97	I>F		No	TOPMed
rs782557957	97	I>M		No	ExAC gnomAD
rs782619996	98	R>C		No	ExAC TOPMed gnomAD
rs782259747	98	R>H		No	ExAC TOPMed gnomAD
rs1352994869	99	M>L		No	TOPMed gnomAD
rs1352994869	99	M>V		No	TOPMed gnomAD
rs1859811979	100	H>Y		No	gnomAD
rs1859812070	102	T>A		No	TOPMed gnomAD
rs1859812161	102	T>I		No	Ensembl
rs782795876	103	S>*		No	ExAC TOPMed gnomAD
rs782795876	103	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	104	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1406580262	106	D>N		No	TOPMed gnomAD
rs1406580262	106	D>Y		No	TOPMed gnomAD
rs1555172330	107	I>T		No	gnomAD
rs1555172329	107	I>V		No	gnomAD
rs1555172331	108	V>A		No	gnomAD
COSM3443400	110	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1259550280	111	N>K		No	TOPMed gnomAD
rs781845209	115	I>L		No	ExAC TOPMed gnomAD
rs781845209	115	I>V		No	ExAC TOPMed gnomAD
rs782447221	117	R>G		No	ExAC TOPMed gnomAD
rs782592585	117	R>K		No	ExAC gnomAD
rs587595961	118	L>P		No	1000Genomes
rs782566158	119	V>I		No	ExAC gnomAD
rs1555172343	120	L>P		No	gnomAD
rs1279731566	123	A>S		No	TOPMed gnomAD
rs1232129166	123	A>V		No	TOPMed gnomAD
rs1373517519	124	A>P		No	TOPMed
rs1441441891	125	H>R		No	TOPMed
rs1304413409	125	H>Y		No	TOPMed gnomAD
rs1555172347	127	K>Q		No	gnomAD
rs782628423	127	K>T		No	ExAC TOPMed gnomAD
rs1555172351	128	P>A		No	gnomAD
rs1555172351	128	P>T		No	gnomAD
rs1860020739	130	S>F		No	Ensembl
TCGA novel	130	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1860020644	130	S>T		No	TOPMed
rs782262920	131	S>N		No	ExAC TOPMed gnomAD
rs1860021072	132	R>S		No	Ensembl
rs1555172352	133	T>A		No	gnomAD
rs199891499	133	T>M		No	ESP ExAC TOPMed gnomAD
rs1345669097	134	V>M		No	TOPMed gnomAD
rs587723931	138	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs587670600	138	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs782027370	139	D>H		No	ExAC TOPMed gnomAD
rs1555172355	140	S>F		No	gnomAD
rs1860022463	143	P>A		No	TOPMed gnomAD
rs1860022563	143	P>L		No	TOPMed
rs1592583101	147	H>P		No	Ensembl
rs1592583110	148	R>*		No	Ensembl
rs1592583110	148	R>G		No	Ensembl
rs781946514	148	R>L		No	ExAC gnomAD
rs781946514	148	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1261560123	149	P>Q		No	gnomAD
rs766155770	149	P>S		No	TOPMed
rs766155770	149	P>T		No	TOPMed
rs2137533776	150	H>Y		No	Ensembl
rs782705150	153	T>A		No	ExAC gnomAD
rs781815304	155	V>L		No	ExAC TOPMed gnomAD
rs367999890	156	A>P		No	ESP ExAC TOPMed gnomAD
COSM1297653	156	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs367999890	156	A>T		No	ESP ExAC TOPMed gnomAD
rs1555172360	157	Q>*		No	gnomAD
rs587624540	158	G>R		No	1000Genomes
rs1860024820	162	A>S		No	Ensembl
rs1350128816	163	L>P		No	TOPMed
rs782515563	165	D>N		No	ExAC TOPMed gnomAD
rs782515563	165	D>Y		No	ExAC TOPMed gnomAD
rs782613317	166	V>E		No	ExAC TOPMed gnomAD
rs782613317	166	V>G		No	ExAC TOPMed gnomAD
rs781787408	168	H>D		No	ExAC gnomAD
rs1293207529	168	H>R		No	TOPMed gnomAD
rs781787408	168	H>Y		No	ExAC gnomAD
rs1555172371	170	M>L		No	gnomAD
rs201776848	172	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1027236169	172	R>P		No	TOPMed
COSM923061 rs1027236169	172	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
COSM6130959	173	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555172373	174	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs782295817	175	R>Q		No	ExAC TOPMed gnomAD
rs782667390	175	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782368056	177	V>I		No	ExAC gnomAD
rs1817774937	178	F>I		No	TOPMed
rs782206467	179	R>*		No	ExAC TOPMed gnomAD
rs201036692	179	R>L		No	ExAC TOPMed gnomAD
rs201036692	179	R>Q		No	ExAC TOPMed gnomAD
rs1860027218	180	Y>H		No	gnomAD
TCGA novel	182	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs944775590	184	N>K		No	gnomAD
rs183479535	185	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782180602	186	S>I		No	ExAC gnomAD
rs782180602	186	S>N		No	ExAC gnomAD
rs782615717	186	S>R		No	ExAC gnomAD
rs782180602	186	S>T		No	ExAC gnomAD
rs782331004	188	D>G		No	ExAC TOPMed gnomAD
rs782664516	191	I>T		No	ExAC gnomAD
COSM4401473	192	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs930647209	194	P>L		No	TOPMed gnomAD
rs1812580191	194	P>S		No	TOPMed
rs1048812562	195	Y>*		No	gnomAD
rs587747133	195	Y>H		No	1000Genomes ExAC gnomAD
rs1860048415	195	Y>S		No	TOPMed
rs1860048666	196	W>C		No	TOPMed
rs2137535403	197	S>R		No	Ensembl
rs1860048775	198	V>M		No	Ensembl
COSM3443401 rs782005442	199	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs782376690	199	R>W		No	ExAC TOPMed gnomAD
COSM923062	200	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555172438	202	V>A		No	gnomAD
rs1860049357	202	V>M		No	gnomAD
rs1327091595	204	Q>E		No	TOPMed gnomAD
rs587676028	204	Q>P		No	1000Genomes ExAC gnomAD
rs587676028	204	Q>R		No	1000Genomes ExAC gnomAD
rs1592584148	205	Y>H		No	TOPMed gnomAD
rs1592584148	205	Y>N		No	TOPMed gnomAD
rs782818788	206	E>K		No	ExAC TOPMed gnomAD
rs781983472	207	G>W		No	ExAC gnomAD
rs1555172445	209	Q>*		No	gnomAD
rs1860050560	210	R>S		No	TOPMed
rs374221859	212	P>L		No	ESP ExAC TOPMed gnomAD
rs1555172448	213	S>Y		No	TOPMed gnomAD
rs782440822	214	E>K		No	ExAC TOPMed gnomAD
rs1555172450	215	S>F		No	gnomAD
rs1555172451	217	C>R		No	gnomAD
rs782551984	218	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs377211898	218	S>C		No	ESP ExAC TOPMed gnomAD
rs377211898	218	S>F		No	ESP ExAC TOPMed gnomAD
rs782712033	218	S>T		No	ExAC
rs782641618	219	S>G		No	ExAC TOPMed gnomAD
rs782266819	219	S>I		No	ExAC
rs1860269399	219	S>R		No	gnomAD
rs587763740	220	L>V		No	1000Genomes ExAC TOPMed gnomAD
rs1555173152	221	T>A		No	gnomAD
rs1860269937	223	P>L		No	Ensembl
rs782046560	223	P>S		No	ExAC TOPMed gnomAD
rs1592591790	225	P>Q		No	Ensembl
rs1208753675	227	H>Y		No	TOPMed
rs1555173163	228	S>G		No	gnomAD
COSM4017839	228	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781863884	231	S>R		No	ExAC TOPMed gnomAD
rs782481530	231	S>R		No	ExAC gnomAD
TCGA novel	232	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782742979	232	E>K		No	TOPMed gnomAD
TCGA novel	233	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782608370	234	I>F		No	ExAC TOPMed gnomAD
rs782608370	234	I>L		No	ExAC TOPMed gnomAD
rs1555173165	235	I>M		No	TOPMed gnomAD
rs781788899	235	I>V		No	ExAC gnomAD
rs1555173166	236	T>I		No	gnomAD
rs1235658295	237	Q>R		No	TOPMed
rs1342150230	238	S>L		No	TOPMed
rs1860272075	239	E>*		No	gnomAD
rs1860272436	241	K>N		No	Ensembl
rs1860272322	241	K>T		No	Ensembl
rs1860272763	243	D>G		No	gnomAD
COSM4916162	245	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782671817	245	V>G		No	ExAC gnomAD
rs1555173174	247	I>T		No	gnomAD
rs1295832298	248	P>A		No	TOPMed gnomAD
rs1295832298	248	P>S		No	TOPMed gnomAD
rs782245932	249	A>S		No	ExAC TOPMed gnomAD
rs782245932	249	A>T		No	ExAC TOPMed gnomAD
rs1592591939	250	E>K		No	Ensembl
rs1445838990	251	G>R		No	TOPMed
rs1555173181	252	I>L		No	gnomAD
rs1860275099	255	R>S		No	Ensembl
rs1860275293	256	T>K		No	TOPMed
rs1860275658	257	E>*		No	Ensembl
rs1860335929	258	G>A		No	TOPMed
rs782234482	258	G>R		No	ExAC TOPMed gnomAD
rs1163637383	259	T>A		No	TOPMed gnomAD
rs1163637383	259	T>S		No	TOPMed gnomAD
rs782647751	260	D>H		No	gnomAD
rs782647751	260	D>Y		No	gnomAD
rs1555173316	261	S>F		No	gnomAD
rs2137552538	262	P>A		No	Ensembl
rs1419374563	265	R>G		No	TOPMed gnomAD
rs1472533384	265	R>Q		No	TOPMed gnomAD
rs1249078691	266	D>G		No	TOPMed gnomAD
rs781947838	267	W>G		No	ExAC TOPMed gnomAD
rs370686748	268	R>Q		No	ESP ExAC TOPMed gnomAD
rs200647738	268	R>W		No	ESP ExAC TOPMed gnomAD
rs1555173328	269	P>L		No	gnomAD
rs868955384	271	S>A		No	Ensembl
rs367628788	271	S>G		No	Ensembl
rs371511377	271	S>N		No	TOPMed gnomAD
rs371511377	271	S>T		No	TOPMed gnomAD
TCGA novel	273	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781933876	274	T>I		No	ExAC TOPMed gnomAD
rs781933876	274	T>N		No	ExAC TOPMed gnomAD
rs781933876	274	T>S		No	ExAC TOPMed gnomAD
rs1860339153	274	T>S		No	Ensembl
COSM5650193 rs782806367	275	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1860339944	276	L>P		No	gnomAD
rs1555173339	278	T>I		No	gnomAD
rs1555173344	282	E>K		No	gnomAD
rs1860341139	289	E>G		No	gnomAD
COSM3791186	289	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM260433 rs2137552876	294	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs782129786	295	M>K		No	ExAC TOPMed gnomAD
rs782129786	295	M>T		No	ExAC TOPMed gnomAD
rs1860341626	296	E>V		No	Ensembl
TCGA novel	297	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555173354	297	E>K		No	gnomAD
rs1860342018	299	K>R		No	TOPMed
rs200290170	300	K>I		No	ExAC TOPMed gnomAD
rs34575249 VAR_032294	300	K>R		No	UniProt dbSNP
rs1362511745	302	I>V		No	TOPMed gnomAD
rs1566526584	303	S>L		No	gnomAD
rs1860342969	304	G>V		No	TOPMed
rs1860343477	306	Q>*		No	TOPMed
TCGA novel	310	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4447896	312	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782108521	313	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs782108521	313	S>F		No	ExAC gnomAD
rs781950801	313	S>T		No	ExAC gnomAD
rs781939758	316	E>A		No	ExAC gnomAD
rs781939758	316	E>V		No	ExAC gnomAD
rs782155832	319	Q>*		No	ExAC TOPMed gnomAD
rs782155832	319	Q>E		No	ExAC TOPMed gnomAD
rs782759344	320	E>G		No	ExAC TOPMed gnomAD
COSM4905401	320	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782759344	320	E>V		No	ExAC TOPMed gnomAD
rs782457017	321	R>G		No	ExAC TOPMed gnomAD
rs1555173703	321	R>K		No	gnomAD
rs781789535	322	P>L		No	ExAC gnomAD
rs782754812	322	P>T		No	ExAC gnomAD
TCGA novel	323	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782455654	325	L>F		No	ExAC gnomAD
rs1172724630	325	L>P		No	TOPMed
rs782662144	326	C>R		No	ExAC gnomAD
rs1860451043	328	P>L		No	TOPMed gnomAD
rs1860451043	328	P>R		No	TOPMed gnomAD
rs781900769	328	P>T		No	ExAC gnomAD
rs371156857	329	G>A		No	ESP ExAC TOPMed gnomAD
COSM70452	329	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs371156857	329	G>V		No	ESP ExAC TOPMed gnomAD
rs1367649814	330	V>I		No	TOPMed
rs1555173710	331	N>S		No	gnomAD
rs782645339	332	P>A		No	ExAC gnomAD
rs782645339	332	P>T		No	ExAC gnomAD
rs782585635	333	E>D		No	ExAC gnomAD
rs782356138	333	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1555173720	334	E>K		No	gnomAD
rs1555173720	334	E>Q		No	gnomAD
rs1555173910	338	I>V		No	gnomAD
rs1403345135	339	I>N		No	TOPMed
rs1860509146	339	I>V		No	Ensembl
rs1555173913	340	Q>E		No	gnomAD
rs1555173913	340	Q>K		No	gnomAD
COSM428417	341	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782476045	341	S>N		No	ExAC gnomAD
rs782625845	342	R>C		No	ExAC gnomAD
rs587612868	342	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs868958901	345	Q>E		No	gnomAD
rs868958901	345	Q>K		No	gnomAD
rs1555173917	345	Q>R		No	gnomAD
rs182278039	346	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1860510443	347	M>T		No	Ensembl
rs1555173918	349	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1555173919	350	N>S		No	gnomAD
rs1860510774	351	Q>E		No	TOPMed
rs952843732	351	Q>H		No	TOPMed
rs868949876	351	Q>R		No	gnomAD
rs185411001	352	D>A		No	1000Genomes ExAC TOPMed gnomAD
COSM923063	352	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555174195	355	K>E		No	Ensembl
rs1555174197	356	E>K		No	gnomAD
rs782781679	360	C>S		No	ExAC gnomAD
rs1860600524	360	C>Y		No	TOPMed
rs782544561	361	K>E		No	ExAC TOPMed gnomAD
rs1860600906	366	N>S		No	Ensembl
TCGA novel	367	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370573768	368	Q>*		No	ESP TOPMed gnomAD
rs1459845733	368	Q>R		No	TOPMed gnomAD
rs373126732	370	I>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782560930	370	I>M		No	ExAC gnomAD
rs782446783	372	D>Y		No	ExAC gnomAD
rs1860739400	376	Q>H		No	Ensembl
rs782794477	376	Q>R		No	ExAC gnomAD
rs1555174632	377	R>S		No	gnomAD
rs1439946222	378	L>V		No	TOPMed gnomAD
rs1555174636	378	L>W		No	gnomAD
rs1379093442	381	Q>R		No	TOPMed
rs868928707	383	T>K		No	Ensembl
rs1555174639	384	S>C		No	gnomAD
rs1555174639	384	S>F		No	gnomAD
rs1331782973	385	V>F		No	TOPMed gnomAD
rs1331782973	385	V>L		No	TOPMed gnomAD
rs370914448	387	Q>H		No	ESP ExAC TOPMed gnomAD
rs1430319275	387	Q>P		No	Ensembl
rs1391802731	388	L>F		No	TOPMed gnomAD
rs782657142	388	L>H		No	ExAC gnomAD
rs782657142	388	L>R		No	ExAC gnomAD
rs782211504	389	K>R		No	ExAC TOPMed gnomAD
rs782211504	389	K>T		No	ExAC TOPMed gnomAD
rs1008747282	390	Q>*		No	TOPMed gnomAD
rs782569575	390	Q>R		No	ExAC gnomAD
rs868987475	391	E>*		No	Ensembl
rs2137579183	391	E>V		No	Ensembl
rs1860741657	392	L>Q		No	gnomAD
rs1015150630	392	L>V		No	Ensembl
rs1157284052	395	A>V		No	TOPMed
rs1442074171	396	N>I		No	TOPMed gnomAD
rs1381549691	397	M>T		No	TOPMed gnomAD
rs868934114	397	M>V		No	Ensembl
rs1555174655	398	D>G		No	gnomAD
rs961845244	399	K>E		No	Ensembl
rs1555174659	400	D>A		No	gnomAD
rs1193367649	400	D>N		No	TOPMed gnomAD
rs1555174662	403	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	407	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs2137580273	407	V>M		No	Ensembl
rs1555174712	408	D>G		No	gnomAD
rs1860754195	408	D>Y		No	gnomAD
rs782457488	409	L>M		No	ExAC gnomAD
rs1292123571	410	Q>R		No	TOPMed gnomAD
rs1555174717	412	K>T		No	gnomAD
rs782668131	414	D>N		No	ExAC TOPMed gnomAD
rs782668131	414	D>Y		No	ExAC TOPMed gnomAD
rs1381939685	416	R>K		No	TOPMed gnomAD
rs1555174719	417	N>K		No	gnomAD
rs587618418	418	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs587618418	418	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs782508827	418	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1555174724	420	L>S		No	gnomAD
rs1173021532	422	E>K		No	TOPMed gnomAD
rs782572520	422	E>V		No	ExAC TOPMed gnomAD
rs1417495290	424	K>T		No	TOPMed gnomAD
rs587601302	425	K>T		No	1000Genomes ExAC TOPMed gnomAD
rs782387931	427	L>R		No	ExAC gnomAD
rs1237934337	428	G>E		No	TOPMed
rs2137581709	428	G>R		No	Ensembl
rs782711956	429	Q>H		No	ExAC TOPMed gnomAD
rs782601776	429	Q>R		No	ExAC gnomAD
rs1860776001	431	D>V		No	TOPMed
rs782311544	432	R>C		No	ExAC gnomAD
rs1555174807	432	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1459257114	434	L>F		No	Ensembl
COSM4935482	438	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1860776458	438	Q>R		No	gnomAD
rs1860776627	439	A>T		No	Ensembl
rs1860776799	439	A>V		No	TOPMed gnomAD
rs1555174813	440	K>T		No	gnomAD
TCGA novel	442	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs113399640	443	E>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1860777680	444	A>S		No	Ensembl
rs954157624	445	L>F		No	TOPMed
rs1227754012	446	R>Q		No	TOPMed gnomAD
rs188772696	446	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1354338487	447	K>N		No	TOPMed gnomAD
rs781990687	447	K>R		No	ExAC gnomAD
rs782138617	448	L>H		No	ExAC TOPMed gnomAD
rs782138617	448	L>P		No	ExAC TOPMed gnomAD
rs782736037	449	S>C		No	ExAC gnomAD
rs2137581956	449	S>T		No	Ensembl
rs1860779542	450	D>E		No	gnomAD
rs1860779445	450	D>V		No	gnomAD
rs1246927861	451	V>A		No	TOPMed gnomAD
rs782060225	451	V>I		No	ExAC TOPMed gnomAD
rs1860779836	452	S>G		No	gnomAD
rs1341039505	452	S>I		No	TOPMed gnomAD
rs1341039505	452	S>T		No	TOPMed gnomAD
rs1860780199	453	Y>*		No	Ensembl
rs1592607438	453	Y>S		No	Ensembl
rs912605152	454	H>P		No	Ensembl
COSM6067345	454	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs912605152	454	H>R		No	Ensembl
rs1330386716	455	Q>*		No	TOPMed gnomAD
rs1555174841	455	Q>H		No	gnomAD
COSM3808344	455	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782803707	455	Q>R		No	ExAC TOPMed gnomAD
rs1860784176	456	V>A		No	TOPMed
TCGA novel	459	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782163999	460	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM6067344	460	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782749650	460	R>Q		No	ExAC gnomAD
rs1860784840	461	E>G		No	TOPMed
rs587702467	463	E>K		No	1000Genomes gnomAD
rs1308514848	464	H>Q		No	TOPMed gnomAD
TCGA novel	467	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM686385	467	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1378881153	468	L>P		No	TOPMed gnomAD
rs1309471109	470	A>S		No	TOPMed gnomAD
rs185097614	470	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1555174903	471	H>P		No	Ensembl
rs369091364	471	H>Y		No	ESP ExAC TOPMed gnomAD
rs782796556	473	M>L		No	ExAC TOPMed gnomAD
rs782796556	473	M>V		No	ExAC TOPMed gnomAD
rs1360384826	476	E>Q		No	TOPMed
COSM923065	477	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1157389558	478	D>A		No	TOPMed gnomAD
rs1157389558	478	D>V		No	TOPMed gnomAD
rs782515385	479	E>G		No	ExAC gnomAD
rs1427956411	480	A>T		No	TOPMed gnomAD
rs782765914	480	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs139285669	483	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139285669	483	Y>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139285669	483	Y>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781798117	486	H>Y		No	ExAC gnomAD
COSM3967308	487	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782540144	489	Q>*		No	ExAC TOPMed gnomAD
rs782540144	489	Q>E		No	ExAC TOPMed gnomAD
rs1555175158	489	Q>P		No	gnomAD
rs1860846793	490	S>N		No	TOPMed
rs781851274	491	N>D		No	ExAC gnomAD
rs1262660318	492	G>R		No	TOPMed gnomAD
rs2137586845	493	F>V		No	Ensembl
rs1555175163	495	L>F		No	gnomAD
COSM3443403 rs371636063	496	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs371636063	496	P>T		No	ESP ExAC TOPMed gnomAD
rs782306796	497	T>A		No	ExAC TOPMed gnomAD
rs374672017	497	T>M		No	ESP ExAC TOPMed gnomAD
TCGA novel	499	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1347255676	500	K>R		No	TOPMed
rs587692084	502	A>G		No	1000Genomes ExAC
rs782137611	502	A>T		No	ExAC TOPMed gnomAD
rs2137586971	503	T>A		No	Ensembl
rs1860848966	503	T>I		No	TOPMed
rs781973047	505	V>F		No	ExAC TOPMed gnomAD
rs781973047	505	V>I		No	ExAC TOPMed gnomAD
rs1555175176	509	G>R		No	TOPMed gnomAD
rs375339200	509	G>V		No	ESP ExAC TOPMed gnomAD
rs1179675593	510	T>I		No	TOPMed gnomAD
rs910096872	511	S>R		No	gnomAD
rs372805703 COSM923067	512	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1205761032	513	L>P		No	TOPMed
rs1860864122	516	V>F		No	Ensembl
rs587602428	517	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs587602428	517	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1358689948	517	R>Q		No	TOPMed gnomAD
rs1860864474	519	A>P		No	TOPMed
rs1056341835	519	A>V		No	gnomAD
rs1555175231	520	L>F		No	Ensembl
rs150949729	521	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs781903706	521	R>H		No	ExAC TOPMed gnomAD
rs781903706	521	R>L		No	ExAC TOPMed gnomAD
rs150949729	521	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1337039367	523	L>M		No	TOPMed
rs1860865595	523	L>P		No	TOPMed
rs782497515	524	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs782795755	524	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1555175249	525	N>D		No	Ensembl
rs781824382	525	N>S		No	ExAC TOPMed gnomAD
rs1860866292	526	S>G		No	TOPMed
rs1555175251	527	F>Y		No	gnomAD
rs782233540	530	H>Q		No	gnomAD
rs782574818	531	D>H		No	ExAC TOPMed gnomAD
rs782574818 COSM3868417	531	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs782204212	532	P>S		No	ExAC gnomAD
rs1425697541	533	Q>*		No	Ensembl
rs782544713	533	Q>H		No	ExAC gnomAD
rs1860867335	535	H>R		No	TOPMed
rs1407485044	536	T>A		No	TOPMed gnomAD
rs782618482	536	T>S		No	ExAC TOPMed gnomAD
rs1407485044	536	T>S		No	TOPMed gnomAD
rs1041748646	537	I>T		No	TOPMed
rs587636538	537	I>V		No	1000Genomes ExAC gnomAD
rs1157072236	538	D>H		No	TOPMed gnomAD
rs1157072236	538	D>N		No	TOPMed gnomAD
rs1555175266	540	L>V		No	gnomAD
rs868970438	541	E>A		No	Ensembl
rs1860868412	541	E>D		No	Ensembl
rs1860868499	544	I>V		No	TOPMed
rs1860868975	548	M>I		No	TOPMed gnomAD
rs782181199	548	M>T		No	ExAC gnomAD
rs782019768	549	E>G		No	ExAC TOPMed gnomAD
rs587693838	549	E>K		No	1000Genomes ExAC gnomAD
rs368990570	550	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201418275 COSM2111881	550	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201418275	550	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368990570	550	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1283058898	553	V>I		No	TOPMed gnomAD
rs374913848	554	M>T		No	ESP ExAC TOPMed gnomAD
COSM686384	555	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781796276	556	T>M		No	ExAC TOPMed gnomAD
rs782803807	558	K>E		No	ExAC TOPMed gnomAD
rs1344103309	559	K>R		No	TOPMed gnomAD
rs1860870836	560	Q>R		No	TOPMed
COSM923068	562	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs587682342	563	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs1555175371	564	V>I		No	gnomAD
rs1555175371	564	V>L		No	gnomAD
rs374982364	565	R>G		No	ESP ExAC TOPMed gnomAD
rs781817418	565	R>Q		No	ExAC TOPMed gnomAD
rs374982364	565	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3808345 rs1566553550	568	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs782687758	569	P>S		No	ExAC gnomAD
rs1555175375	572	Q>R		No	gnomAD
rs781800886	573	V>I		No	ExAC gnomAD
rs782526258	574	G>D		No	ExAC TOPMed gnomAD
rs1555175379	575	S>R		No	gnomAD
rs1452600086	577	Y>C		No	TOPMed gnomAD
COSM923069 rs370924870	578	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD
COSM3383196 rs370924870	578	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs376484188	578	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782522789	579	E>*		No	ExAC TOPMed gnomAD
rs1024983816	579	E>D		No	TOPMed gnomAD
rs782522789	579	E>Q		No	ExAC TOPMed gnomAD
rs1860891873	579	E>V		No	gnomAD
rs782235877	580	S>F		No	ExAC gnomAD
rs374147539	583	P>L		No	ESP ExAC TOPMed gnomAD
rs1860892637	584	N>S		No	TOPMed
TCGA novel	585	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1555175392	586	K>*		No	gnomAD
rs1861600567	588	P>L		No	TOPMed
rs1555177760	589	H>Y		No	Ensembl
rs1213439100	592	S>G		No	Ensembl
rs1555177764	592	S>T		No	TOPMed gnomAD
rs1861601378	593	S>F		No	Ensembl
rs1555177768	593	S>P		No	gnomAD
rs1301187439	595	T>A		No	TOPMed gnomAD
rs1235067032	599	T>A		No	TOPMed gnomAD
rs782779028	600	C>F		No	ExAC TOPMed gnomAD
rs1555177773	600	C>R		No	TOPMed gnomAD
rs1555177773	600	C>S		No	TOPMed gnomAD
rs2137647591	602	K>Q		No	Ensembl
rs781824819	603	V>L		No	ExAC gnomAD
rs781824819	603	V>M		No	ExAC gnomAD
rs782492199	605	Y>C		No	ExAC TOPMed gnomAD
rs1555177777	607	T>I		No	gnomAD
rs2137647653	608	D>A		No	Ensembl
rs1555177782 COSM5050512	609	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs782507381	609	R>W		No	ExAC TOPMed gnomAD
rs184718561	612	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782281922	615	M>V		No	ExAC TOPMed gnomAD
rs1861604178	616	V>I		No	1000Genomes
rs1555177785	618	I>V		No	gnomAD
rs587641811	619	P>A		No	1000Genomes ExAC gnomAD
rs1861604772	619	P>Q		No	Ensembl
rs587641811	619	P>T		No	1000Genomes ExAC gnomAD
rs782235474	621	R>M		No	ExAC TOPMed gnomAD
rs782235474	621	R>T		No	ExAC TOPMed gnomAD
rs782575012	621	R>W		No	ExAC gnomAD
rs1247007909	623	E>Q		No	TOPMed
rs1322409992	625	V>L		No	TOPMed gnomAD
rs1322409992	625	V>M		No	TOPMed gnomAD
rs1313342896	626	T>M		No	TOPMed gnomAD
rs1555177922	628	K>N		No	gnomAD
rs1861639984 COSM923070	629	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1555177924	633	A>T		No	gnomAD
rs2137650135	633	A>V		No	Ensembl
rs1592638926	634	I>T		No	Ensembl
rs782555201	634	I>V		No	ExAC gnomAD
rs782713707	636	R>G		No	ExAC gnomAD
rs371288924	636	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs782713707	636	R>W		No	ExAC gnomAD
rs1555177929	637	E>G		No	gnomAD
rs1555177930	639	N>D		No	gnomAD
rs782607792	639	N>S		No	ExAC gnomAD
rs1555177932	640	H>Q		No	gnomAD
COSM923071 rs1555177934	641	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs187209017	641	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1447290645	644	F>S		No	TOPMed gnomAD
rs1861642336	644	F>V		No	Ensembl
TCGA novel	646	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1393218432	646	A>V		No	TOPMed gnomAD
rs1555177938	648	D>Y		No	gnomAD
rs140431539	652	G>D		No	1000Genomes
rs782690768	652	G>S		No	ExAC gnomAD
rs587769234	654	V>I		No	1000Genomes ExAC gnomAD
rs587769234	654	V>L		No	1000Genomes ExAC gnomAD
rs1555177940	655	K>R		No	gnomAD
rs1555177943	656	E>K		No	TOPMed gnomAD
rs1555177943	656	E>Q		No	TOPMed gnomAD
rs1861644428	657	E>K		No	TOPMed gnomAD
rs1336952712	660	H>R		No	gnomAD
rs1555178098	660	H>Y		No	gnomAD
rs1555178101	662	D>G		No	gnomAD
rs1555178101	662	D>V		No	gnomAD
TCGA novel	663	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1555178106	663	D>V		No	gnomAD
rs782259720	664	A>T		No	ExAC gnomAD
rs1555178109	664	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs995210362	667	G>E		No	Ensembl
rs782561670	671	K>E		No	Ensembl
rs782676155	671	K>N		No	ExAC gnomAD
rs587704211	673	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs587704211	673	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs781973280	677	E>V		No	ExAC gnomAD
rs374233369	678	E>D		No	ESP ExAC TOPMed gnomAD
rs1555178116 COSM458728	678	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs147021950	679	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1861679817	679	D>V		No	TOPMed gnomAD
TCGA novel	681	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1176933	682	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1555178124	684	N>Y		No	gnomAD

No associated diseases with Q155Q3

2 regional properties for Q155Q3

Type	Name	Position	InterPro Accession
domain	DIX domain	598 - 680	IPR001158
domain	Calponin homology domain	20 - 127	IPR001715

Functions

		Description
EC Number
Subcellular Localization	Cell junction, focal adhesion Cytoplasm, cytoskeleton, stress fiber Cytoplasm	Colocalizes with gamma-tubulin at the centrosome, both during interphase and mitosis (PubMed:19375513) Associated with actin stress fiber at the filament ends (PubMed:16814745)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.

4 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
frizzled binding	Binding to a frizzled (fz) receptor.
gamma-tubulin binding	Binding to the microtubule constituent protein gamma-tubulin.
protein domain specific binding	Binding to a specific domain of a protein.

7 GO annotations of biological process

Name	Definition
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
cerebral cortex radially oriented cell migration	The migration of cells in the developing cerebral cortex in which cells move from the ventricular and/or subventricular zone toward the surface of the brain.
forebrain ventricular zone progenitor cell division	The mitotic division of a basal progenitor giving rise to two neurons.
negative regulation of neuron differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.
positive regulation of Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of microtubule cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q80Y83	Dixdc1	Dixin	Mus musculus (Mouse)	EV
Q2VUH7	Dixdc1	Dixin	Rattus norvegicus (Rat)	SS
Q804T6	dixdc1a	Dixin-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MLACLTRGNL	LDVLQEGFNE	QQLQAYVAWV	NAQLKKRPAV	KPVQDLRQDL	RDGVILAYLI
70	80	90	100	110	120
EIVAGEKLSG	VQLSPGNQQE	MKNNVEKVLQ	FVASKKIRMH	QTSAKDIVDG	NLKSIMRLVL
130	140	150	160	170	180
ALAAHFKPGS	SRTVNQGRDS	RAPLQSHRPH	CATAVAQGAA	AALADVCHDM	SRSGRDVFRY
190	200	210	220	230	240
RQRNSSMDEE	IENPYWSVRA	LVQQYEGQQR	SPSESSCSSL	TSPSPIHSAK	SESIITQSEE
250	260	270	280	290	300
KADFVIIPAE	GIENRTEGTD	SPLSRDWRPG	SPGTYLETSW	EEQLLEQQEY	LEKEMEEAKK
310	320	330	340	350	360
MISGLQALLL	NGSLPEDEQE	RPLALCEPGV	NPEEQLIIIQ	SRLDQSMEEN	QDLKKELLKC
370	380	390	400	410	420
KQEARNLQGI	KDALQQRLTQ	QDTSVLQLKQ	ELLRANMDKD	ELHNQNVDLQ	RKLDERNRLL
430	440	450	460	470	480
GEYKKELGQK	DRLLQQHQAK	LEEALRKLSD	VSYHQVDLER	ELEHKDVLLA	HCMKREADEA
490	500	510	520	530	540
TNYNSHNSQS	NGFLLPTAGK	GATSVSNRGT	SDLQLVRDAL	RSLRNSFSGH	DPQHHTIDSL
550	560	570	580	590	600
EQGISSLMER	LHVMETQKKQ	ERKVRVKSPR	TQVGSEYRES	WPPNSKLPHS	QSSPTVSSTC
610	620	630	640	650	660
TKVLYFTDRS	LTPFMVNIPK	RLEEVTLKDF	KAAIDREGNH	RYHFKALDPE	FGTVKEEIFH
670	680
DDDAIPGWEG	KIVAWVEEDH	GEN