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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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+ Genes 1

Genes:
ATXN1,

+ Genes associated with diseases 1

Genes at Omim

ATXN1,

ATXN1	Spinocerebellar ataxia 1, 164400 (3)

Genes at Clinical Genomics Database

ATXN1,

ATXN1	Spinocerebellar ataxia 1

Genes at HGMD

Summary

Number of Variants: 224
Number of Genes: 1

Export to: CSV

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ATXN1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_94.variant39	6	rs754954093 dbSNP Clinvar	16327864	1033.1	GT...	GT...	PASS	0/4	75	CODON_INSERTION	MODERATE	None							None None	None None None None	ATXN1\|0.832563526\|5.05%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_94.variant39	1	.	210439986	39.23	CAA	CA...	PASS	0/4	4	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	1	.	233091276	214.73	CTTT	CT...	PASS	0/4	28	None	None	None							None None	None None None None	NTPCR\|0.019628844\|74.37%
	View	combined sample_94.variant39	1	rs797013428 dbSNP Clinvar	247921789	198.31	AGT	AG...	PASS	0/4	20	None	None	None							None None	None None None None	OR1C1\|0.00291809\|88.77%
	View	combined sample_94.variant39	2	rs574019537 dbSNP Clinvar	27499791	121.95	CTT	CT...	PASS	0/4	17	None	None	None							None None	None None None None	DNAJC5G\|0.008946172\|81.71%
	View	combined sample_94.variant39	2	.	27732642	245.95	CAA	CA...	PASS	0/4	17	None	None	None							None None	None None None None	GCKR\|0.083855811\|54.46%
	View	combined sample_94.variant39	2	rs59068176 dbSNP Clinvar	47132834	390.36	TAAA	TA...	PASS	0/4	64	None	None	None							None None	None None None None	MCFD2\|0.112740478\|48.72%
	View	combined sample_94.variant39	2	.	209207518	112.94	CT	CT...	PASS	0/4	9	None	None	None							None None	None None None None	PIKFYVE\|0.407766308\|20.32%
	View	combined sample_94.variant39	2	.	223809374	206.91	CTT	CT...	PASS	0/4	13	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	2	.	223917289	72.7	TA	TA...	PASS	0/4	10	None	None	None							None None	None None None None	KCNE4\|0.18083914\|38.93%
	View	combined sample_94.variant39	2	rs557988366,rs10573691 dbSNP Clinvar	242034475	830.47	GCCCC	GC...	PASS	0/4	23	None	None	None	0.88958	0.88960					None None	None None None None	SNED1\|0.028973787\|69.88%,MTERF4\|0.001728081\|91.76%
	View	combined sample_94.variant39	3	rs750783210 dbSNP Clinvar	44948802	549.96	CA...	CA...	PASS	0/4	15	None	None	None							None None	None None None None	TGM4\|0.001325169\|93.73%
	View	combined sample_94.variant39	3	rs539705942 dbSNP Clinvar	170857167	454.78	GCACA	GC...	PASS	0/4	17	None	None	None							None None	None None None None	TNIK\|0.717729556\|8.03%
	View	combined sample_94.variant39	4	rs57033509 dbSNP Clinvar	30132766	1504.56	AT...	AT...	PASS	0/4	38	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	4	rs755025486 dbSNP Clinvar	38053815	319.9	T	TG...	PASS	0/4	29	None	None	None							None None	None None None None	TBC1D1\|0.072752913\|56.83%
	View	combined sample_94.variant39	4	.	98107364	1431.42	CAA	CA...	PASS	0/4	77	None	None	None							None None	None None None None	STPG2\|0.099940313\|51.2%
	View	combined sample_94.variant39	4	rs777513703 dbSNP Clinvar	100137292	166.3	ATTT	AT...	PASS	0/4	26	None	None	None							None None	None None None None	ADH6\|0.003690924\|87.44%
	View	combined sample_94.variant39	4	rs763983242 dbSNP Clinvar	183522050	103.7	CTTT	CT...	PASS	0/4	14	None	None	None							None None	None None None None	TENM3\|0.916849963\|3.06%
	View	combined sample_94.variant39	5	.	5186414	94.31	G	GG...	PASS	0/4	26	None	None	None							None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	combined sample_94.variant39	5	.	96366324	2897.11	CT...	CT...	PASS	0/4	74	None	None	None							None None	None None None None	LNPEP\|0.260951487\|30.65%
	View	combined sample_94.variant39	5	rs554128318,rs869134666 dbSNP Clinvar	95192736	48.15	CT...	CT...	PASS	0/4	23	None	None	None	0.63039	0.63040					None None	None None None None	LINC01554\|0.000584845\|98.01%
	View	combined sample_94.variant39	5	rs778658356 dbSNP Clinvar	98216956	83.41	CT...	CT...	PASS	0/4	22	None	None	None							None None	None None None None	CHD1\|0.573996389\|12.85%
	View	combined sample_94.variant39	5	.	137492514	118.69	TA...	TA...	PASS	0/4	12	None	None	None							None None	None None None None	BRD8\|0.564301197\|13.19%
	View	combined sample_94.variant39	5	.	150050448	118.62	CAAAA	CA...	PASS	0/4	11	None	None	None							None None	None None None None	MYOZ3\|0.015268944\|76.97%
	View	combined sample_94.variant39	6	.	10709836	87.78	TAA	TA...	PASS	0/4	19	None	None	None							None None	None None None None	PAK1IP1\|0.076896308\|55.94%
	View	combined sample_94.variant39	6	.	30559324	55.79	CT...	CT...	PASS	0/4	7	None	None	None							None None	None None None None	ABCF1\|0.199313589\|36.78%
	View	combined sample_94.variant39	6	.	31712880	369.96	CA...	CA...	PASS	0/4	24	None	None	None							None None	None None None None	MSH5\|0.272348035\|29.7%
	View	combined sample_94.variant39	6	rs376847674 dbSNP Clinvar	33408890	65.32	AT...	AT...	PASS	0/4	19	None	None	None							None None	None None None None	SYNGAP1\|0.418988175\|19.65%
	View	combined sample_94.variant39	6	.	150342471	62.39	ATT	A,...	PASS	0/4	16	None	None	None							None None	None None None None	RAET1L\|0.000372148\|99.13%
	View	combined sample_94.variant39	7	rs368154708 dbSNP Clinvar	26331542	459.92	TG...	TG...	PASS	0/4	9	None	None	None	0.00240	0.00240					None None	None None None None	SNX10\|0.25272682\|31.31%
	View	combined sample_94.variant39	8	rs771884867 dbSNP Clinvar	42227777	116.95	GTTT	GT...	PASS	0/4	17	None	None	None							None None	None None None None	POLB\|0.505085617\|15.57%
	View	combined sample_94.variant39	9	.	14083478	273.56	TAA	TA...	PASS	0/4	67	None	None	None							None None	None None None None	NFIB\|0.999152479\|0.39%
	View	combined sample_94.variant39	9	rs766091487 dbSNP Clinvar	117568495	77.48	GAAA	GA...	PASS	0/4	11	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	10	.	5828128	30.06	ATTTT	AT...	PASS	0/4	9	None	None	None							None None	None None None None	GDI2\|0.399169926\|20.83%
	View	combined sample_94.variant39	10	rs878933728 dbSNP Clinvar	11047218	266.45	GG...	GG...	PASS	0/4	24	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	10	rs138888534 dbSNP Clinvar	88494809	459.17	TA...	TA...	PASS	0/4	12	None	None	None							None None	None None None None	LDB3\|0.330839914\|25.44%
	View	combined sample_94.variant39	11	.	421370	42.56	GCACA	GC...	PASS	0/4	8	None	None	None							None None	None None None None	ANO9\|0.005315208\|85.4%
	View	combined sample_94.variant39	12	.	4797646	63.44	GA	GA...	PASS	0/4	6	None	None	None							None None	None None None None	NDUFA9\|0.046511954\|63.74%
	View	combined sample_94.variant39	12	rs138350612 dbSNP Clinvar	6092567	419.92	G	GG...	PASS	0/4	9	None	None	None	0.01977	0.01977					None None	None None None None	VWF\|0.625448521\|10.93%
	View	combined sample_94.variant39	12	rs199664048,rs767310587,rs557495286 dbSNP Clinvar	11903726	1613.97	CT...	C,...	PASS	0/4	11	None	None	None	0.99101	0.99100					None None	None None None None	ETV6\|0.977301754\|1.55%
	View	combined sample_94.variant39	12	rs370599538,rs11048577 dbSNP Clinvar	26709499	590.84	T	G,...	PASS	0/4	15	None	None	None	0.44808	0.44810					None None	None None None None	ITPR2\|0.196454921\|37.11%
	View	combined sample_94.variant39	12	.	28732873	240.63	CAAAA	CA...	PASS	0/4	5	None	None	None							None None	None None None None	CCDC91\|0.271839478\|29.76%
	View	combined sample_94.variant39	12	rs201905432,rs544760072 dbSNP Clinvar	92817706	264.09	CA...	CA...	PASS	0/4	57	None	None	None							None None	None None None None	CLLU1OS\|0.001094814\|94.95%,CLLU1\|0.001079083\|95.02%
	View	combined sample_94.variant39	12	.	109994453	106.43	TC...	TC...	PASS	0/4	11	None	None	None							None None	None None None None	MMAB\|0.035967788\|67.13%
	View	combined sample_94.variant39	13	.	44453936	324.93	A	AG...	PASS	0/4	34	None	None	None							None None	None None None None	LACC1\|0.150502517\|42.93%
	View	combined sample_94.variant39	15	rs750156618 dbSNP Clinvar	32393486	828.44	CT	CT...	PASS	0/4	54	None	None	None							None None	None None None None	CHRNA7\|0.168515319\|40.52%
	View	combined sample_94.variant39	15	.	43483541	431.7	CTTTT	CT...	PASS	0/4	26	None	None	None							None None	None None None None	EPB42\|0.035961479\|67.14%,CCNDBP1\|0.103616201\|50.48%
	View	combined sample_94.variant39	15	rs372623559,rs878977249,rs58520264 dbSNP Clinvar	48064999	684.47	T	TC...	PASS	0/4	72	None	None	None							None None	None None None None	SEMA6D\|0.872174744\|4.17%
	View	combined sample_94.variant39	18	rs796325314 dbSNP Clinvar	55685891	261.42	CAA	CA...	PASS	0/4	9	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	16	rs749732730 dbSNP Clinvar	85953845	99.41	CTTTT	CT...	PASS	0/4	15	None	None	None							None None	None None None None	IRF8\|0.149976637\|43.02%
	View	combined sample_94.variant39	17	.	6979626	43.9	CTT	CT...	PASS	0/4	5	None	None	None							None None	None None None None	CLEC10A\|0.005280517\|85.46%
	View	combined sample_94.variant39	17	.	36358189	105.94	GA...	G,...	PASS	0/4	11	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	17	rs71138606 dbSNP Clinvar	36474721	328.43	C	CT...	PASS	0/4	24	None	None	None							None None	None None None None	MRPL45\|0.084537301\|54.31%
	View	combined sample_94.variant39	17	.	36970998	101.14	CA	CA...	PASS	0/4	24	None	None	None							None None	None None None None	CWC25\|0.09954186\|51.25%
	View	combined sample_94.variant39	17	.	42747906	212.86	CTT	CT...	PASS	0/4	32	None	None	None							None None	None None None None	C17orf104\|0.4005481\|20.73%
	View	combined sample_94.variant39	17	.	76203354	114.07	CTTT	CT...	PASS	0/4	9	None	None	None							None None	None None None None	AFMID\|0.002123671\|90.66%
	View	combined sample_94.variant39	18	.	55912906	67.71	CTTTT	CT...	PASS	0/4	7	None	None	None							None None	None None None None	NEDD4L\|0.694589735\|8.66%
	View	combined sample_94.variant39	19	.	11113475	72.06	CAAAA	CA...	PASS	0/4	26	None	None	None							None None	None None None None	SMARCA4\|0.921265936\|2.95%
	View	combined sample_94.variant39	19	.	15658805	947.28	AG...	AG...	PASS	0/4	50	None	None	None							None None	None None None None	CYP4F22\|0.026818585\|70.99%
	View	combined sample_94.variant39	19	.	39233490	45.83	CAA	CA...	PASS	0/4	7	None	None	None							None None	None None None None	CAPN12\|0.032054241\|68.58%
	View	combined sample_94.variant39	20	.	37182420	82.33	CAAA	CA...	PASS	0/4	6	None	None	None							None None	None None None None	RALGAPB\|0.587612363\|12.23%
	View	combined sample_94.variant39	20	rs750291395 dbSNP Clinvar	51869840	166.81	GAAA	GA...	PASS	0/4	21	None	None	None							None None	None None None None	TSHZ2\|0.7161444\|8.09%
	View	combined sample_94.variant39	X	.	2878309	36.62	CAA	CA...	PASS	0/4	7	None	None	None							None None	None None None None	ARSE\|0.002669381\|89.33%
	View	combined sample_94.variant39	1	.	27190821	1301.51	GG...	GG...	PASS	0/4	42	None	None	None							None None	None None None None	SFN\|0.879282286\|3.98%
	View	combined sample_94.variant39	X	rs772356615 dbSNP Clinvar	112068263	142.73	GCA	GC...	PASS	0/4	10	None	None	None							None None	None None None None	AMOT\|0.349674275\|24.15%
	View	combined sample_94.variant39	1	rs374777860,rs138962300 dbSNP Clinvar	24296853	85.54	G	GT...	PASS	0/4	12	SPLICE_SITE_REGION	LOW	None	0.88578	0.88580					None None	None None None None	SRSF10\|0.128552538\|46.11%
	View	combined sample_94.variant39	1	.	61924359	509.74	CTTT	CT...	PASS	0/4	99	None	None	None							None None	None None None None	NFIA\|0.99972457\|0.28%
	View	combined sample_94.variant39	1	.	97279217	163.08	CT...	CT...	PASS	0/4	68	None	None	None							None None	None None None None	PTBP2\|0.713137312\|8.18%
	View	combined sample_94.variant39	1	rs746004006 dbSNP Clinvar	116268178	187.7	GAAAA	GA...	PASS	0/4	34	None	None	None							None None	None None None None	CASQ2\|0.441097582\|18.61%
	View	combined sample_94.variant39	1	rs752784935 dbSNP Clinvar	101487373	212.43	AA...	AA...	PASS	0/4	14	None	None	None							None None	None None None None	DPH5\|0.455473564\|17.9%
	View	combined sample_94.variant39	1	.	118502732	705.63	CG...	CG...	PASS	0/4	16	None	None	None							None None	None None None None	WDR3\|0.257679574\|30.96%,SPAG17\|0.037205443\|66.71%
	View	combined sample_94.variant39	1	rs879129116 dbSNP Clinvar	153784666	280.89	CTT	CT...	PASS	0/4	19	None	None	None							None None	None None None None	GATAD2B\|0.640929125\|10.42%
	View	combined sample_94.variant39	1	.	183205523	115.33	CAAAA	CA...	PASS	0/4	7	None	None	None							None None	None None None None	LAMC2\|0.157780221\|41.89%
	View	combined sample_94.variant39	2	.	11727820	127.9	AA...	AA...	PASS	0/4	12	None	None	None							None None	None None None None	GREB1\|0.073635422\|56.6%
	View	combined sample_94.variant39	2	rs10639159,rs56312031 dbSNP Clinvar	11781593	501.12	G	GG...	PASS	0/4	6	None	None	None		0.39340					None None	None None None None	GREB1\|0.073635422\|56.6%
	View	combined sample_94.variant39	2	rs878976525 dbSNP Clinvar	44942331	59.59	CA...	CA...	PASS	0/4	13	None	None	None							None None	None None None None	CAMKMT\|0.486690674\|16.48%
	View	combined sample_94.variant39	2	.	219941279	63.57	CT...	CT...	PASS	0/4	15	None	None	None							None None	None None None None	NHEJ1\|0.125381052\|46.57%,SLC23A3\|0.053610275\|61.58%
	View	combined sample_94.variant39	2	.	220049547	1349.23	GTT	G,...	PASS	0/4	66	None	None	None							None None	None None None None	FAM134A\|0.322848838\|25.97%
	View	combined sample_94.variant39	3	.	196462165	44.55	CA...	CA...	PASS	0/4	29	None	None	None							None None	None None None None	PIGX\|0.078491202\|55.54%
	View	combined sample_94.variant39	3	rs536775528 dbSNP Clinvar	196659599	116.17	AT...	AT...	PASS	0/4	9	None	None	None	0.50300	0.50300					None None	None None None None	SENP5\|0.628600559\|10.84%
	View	combined sample_94.variant39	5	rs563933511 dbSNP Clinvar	179956197	77.01	CA	CA...	PASS	0/4	9	None	None	None	0.26578	0.26580					None None	None None None None	CNOT6\|0.652785136\|9.99%
	View	combined sample_94.variant39	6	rs34969243,rs398000956 dbSNP Clinvar	24147574	3499.68	GC	G,...	PASS	0/4	306	None	None	None							None None	None None None None	NRSN1\|0.025256515\|71.68%
	View	combined sample_94.variant39	8	.	128429439	238.73	TA	TA...	PASS	0/4	58	None	None	None							None None	None None None None	POU5F1B\|0.00671609\|83.83%
	View	combined sample_94.variant39	6	.	136516593	362.41	GAAA	GA...	PASS	0/4	64	None	None	None							None None	None None None None	PDE7B\|0.415691346\|19.84%
	View	combined sample_94.variant39	6	rs879002580 dbSNP Clinvar	155578324	902.8	CAAA	CA...	PASS	0/4	79	None	None	None							None None	None None None None	TIAM2\|0.074405001\|56.43%
	View	combined sample_94.variant39	7	.	69583231	72.58	TA...	TA...	PASS	0/4	12	None	None	None							None None	None None None None	AUTS2\|0.998368801\|0.51%
	View	combined sample_94.variant39	7	rs57447268 dbSNP Clinvar	73779323	74.65	TT...	TT...	PASS	0/4	4	None	None	None							None None	None None None None	CLIP2\|0.116834309\|47.98%
	View	combined sample_94.variant39	7	.	99040278	73.59	CAA	C,...	PASS	0/4	6	None	None	None							None None	None None None None	PTCD1\|0.011988743\|79.26%,ATP5J2-PTCD1\|0.032966952\|68.18%,CPSF4\|0.932147918\|2.73%
	View	combined sample_94.variant39	7	.	122121216	56.6	CT...	CT...	PASS	0/4	8	None	None	None							None None	None None None None	CADPS2\|0.856231857\|4.53%
	View	combined sample_94.variant39	7	rs796497993 dbSNP Clinvar	141899660	459.74	CTT	CT...	PASS	0/4	33	None	None	None							None None	None None None None	None
	View	combined sample_94.variant39	8	rs33942423,rs66472341,rs71942199 dbSNP Clinvar	59514105	197.56	G	GA...	PASS	0/4	22	None	None	None							None None	None None None None	NSMAF\|0.177836525\|39.33%
	View	combined sample_94.variant39	9	.	131295706	177.75	CA...	CA...	PASS	0/4	8	None	None	None							None None	None None None None	GLE1\|0.149431916\|43.09%
	View	combined sample_94.variant39	8	.	124262077	327.63	GTT	GT...	PASS	0/4	44	None	None	None							None None	None None None None	ZHX1-C8orf76\|0.030014011\|69.4%,ZHX1\|0.220367869\|34.38%
	View	combined sample_94.variant39	9	.	33043990	3139.9	TA...	TA...	PASS	0/4	83	None	None	None							None None	None None None None	SMU1\|0.574271634\|12.83%
	View	combined sample_94.variant39	9	rs200384118,rs796708628 dbSNP Clinvar	114306628	1930.55	ATG	GT...	PASS	0/4	69	None	None	None							None None	None None None None	ZNF483\|0.009900013\|80.92%
	View	combined sample_94.variant39	9	.	127282180	232.11	CA...	C,...	PASS	0/4	7	None	None	None							None None	None None None None	NR6A1\|0.832541273\|5.06%
	View	combined sample_94.variant39	10	.	72509364	423.74	AG...	AG...	PASS	0/4	10	None	None	None							None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	combined sample_94.variant39	10	rs879122271 dbSNP Clinvar	98718663	54.86	TAAA	TA...	PASS	0/4	28	None	None	None							None None	None None None None	LCOR\|0.915854726\|3.09%
	View	combined sample_94.variant39	10	.	115805559	234.32	CT...	CT...	PASS	0/4	11	None	None	None							None None	None None None None	ADRB1\|0.666700808\|9.49%
	View	combined sample_94.variant39	11	rs879132672 dbSNP Clinvar	22833974	745.53	CT	CT...	PASS	0/4	64	None	None	None							None None	None None None None	GAS2\|0.651737613\|10.04%

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