Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATXN1_chr6_16294112_16766460	16731454	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0028 a0009c0016t0028	a0009c0016t0028g0141 a0009c0016t0028g0141	1	182	0.0055	10	c.-61 others(31): Show c.-615+21769_-615+21778dupAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16745933	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0002 a0037c0032t0002	a0037c0032t0002g0170 a0037c0032t0002g0170	1	182	0.0055	10	c.-61 others(29): Show c.-615+7290_-615+7299dupACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG02602.hp2 others(2): Show HG00597.hp1 HG01192.hp2 HG02602.hp2 HG03831.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0096 a0001c0014t0001g0001	5	382	0.0131	10	c.-32 others(19): Show c.-325_-324insCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(3): Show CACACACATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02886.hp1 others(6): Show HG02109.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0003 a0013 a0003 a0013	a0003c0004 a0003c0007 a0013c0021 a0003c0004 a0003c0007 a0013c0021	a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 others(2): Show a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 a0003c0007t0005 a0013c0021t0003	a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0103 others(6): Show a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0103 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0005g0109 a0003c0007t0003g0114 a0003c0007t0005g0116 a0013c0021t0003g0115	9	298	0.0302	10	c.289 others(29): Show c.2896+1660_2896+1661insATATGTGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464247	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04115.hp2 NA19030.hp1 others(1): Show HG03209.hp1 HG04115.hp2 NA19030.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0006 a0001c0003t0001 a0003c0004t0003 a0001c0001t0006 a0001c0003t0001 a0003c0004t0003	a0001c0001t0006g0235 a0001c0001t0006g0279 a0001c0003t0001g0179 others(1): Show a0001c0001t0006g0235 a0001c0001t0006g0279 a0001c0003t0001g0179 a0003c0004t0003g0088	4	298	0.0134	10	c.289 others(27): Show c.2896+405_2896+414dupACACACACAC	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464335	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0296	1	298	0.0034	10	c.289 others(27): Show c.2896+317_2896+326dupCACACACACA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111493418	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02965.hp2 others(8): Show HG02055.hp1 HG02717.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA20300.hp2	a0003 a0006 a0018 a0003 a0006 a0018	a0003c0004 a0003c0007 a0003c0014 others(2): Show a0003c0004 a0003c0007 a0003c0014 a0006c0010 a0018c0028	a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 others(4): Show a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0018c0028t0005	a0003c0004t0003g0088 a0003c0004t0003g0090 a0003c0004t0003g0092 others(8): Show a0003c0004t0003g0088 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0108 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0007t0003g0114 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0113 a0018c0028t0005g0208	11	298	0.0369	10	c.193 others(29): Show c.1936-4648_1936-4639dupTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	14/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553599	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0104 a0003c0004t0003g0104	1	298	0.0034	10	c.348 others(25): Show c.348+558_348+559insAAAAAAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553601	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0005 a0007c0015t0005	a0007c0015t0005g0004 a0007c0015t0005g0004	1	298	0.0034	10	c.348 others(25): Show c.348+556_348+557insAAAAAAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAATTTT others(3): Show AAAATTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	298	0.0034	10	c.348 others(25): Show c.348+553_348+554insAAAAAAATTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAATTTTT others(3): Show AAATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	298	0.0034	10	c.348 others(25): Show c.348+553_348+554insAAAAAAAATT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AATTTTTT others(3): Show AATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG03017.hp1 others(2): Show HG02735.hp1 HG02735.hp2 HG03017.hp1 HG04228.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0222 a0001c0001t0002g0238 a0001c0001t0002g0266 others(2): Show a0001c0001t0002g0222 a0001c0001t0002g0238 a0001c0001t0002g0266 a0001c0001t0004g0239 a0001c0001t0004g0294	5	298	0.0168	10	c.348 others(25): Show c.348+553_348+554insAAAAAAAAAT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG03209.hp2 HG02572.hp2 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253	3	298	0.0101	10	c.348 others(25): Show c.348+544_348+553dupAAAAAAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576085	A A	AATAACAT others(3): Show AATAACATAAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG04115.hp2 NA19066.hp2 others(1): Show HG03041.hp2 HG04115.hp2 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0151 a0001c0003t0001g0179 others(1): Show a0001c0003t0001g0138 a0001c0003t0001g0151 a0001c0003t0001g0179 a0001c0003t0001g0193	4	298	0.0134	10	c.252 others(29): Show c.252-20176_252-20167dupGTTATGTTAT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATCA others(3): Show TAACATCACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02040.hp1 HG02080.hp2 others(7): Show HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG03041.hp1 HG03098.hp1 NA18969.hp2 NA19070.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0017	a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 a0002c0002t0001 a0002c0002t0003 a0009c0017t0001	a0001c0001t0002g0282 a0001c0001t0006g0267 a0001c0003t0003g0173 others(7): Show a0001c0001t0002g0282 a0001c0001t0006g0267 a0001c0003t0003g0173 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0074 a0002c0002t0001g0080 a0002c0002t0003g0075 a0009c0017t0001g0083	10	298	0.0336	10	c.252 others(29): Show c.252-20219_252-20218insGTGTGATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18950.hp1 HG02735.hp1 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0222 a0002c0002t0001g0069 a0001c0001t0002g0222 a0002c0002t0001g0069	2	298	0.0067	10	c.251 others(27): Show c.251+9783_251+9792dupTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01884.hp1 others(19): Show HG01168.hp2 HG01169.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA18948.hp2 NA18964.hp2 NA19043.hp2 NA19070.hp2 NA19240.hp2	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0018	a0002c0002 a0003c0004 a0003c0006 others(2): Show a0002c0002 a0003c0004 a0003c0006 a0013c0021 a0018c0028	a0002c0002t0001 a0003c0004t0003 a0003c0004t0005 others(3): Show a0002c0002t0001 a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 a0013c0021t0003 a0018c0028t0005	a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0074 others(19): Show a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0074 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0006t0003g0213 a0013c0021t0003g0115 a0018c0028t0005g0208	22	298	0.0738	10	c.251 others(27): Show c.251+5992_251+6001dupTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596205	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp2 NA18941.hp1 others(17): Show HG02132.hp2 HG02155.hp2 NA18941.hp1 NA18946.hp1 NA18952.hp1 NA18968.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18994.hp2 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0124 a0002c0002t0001g0014 a0002c0002t0001g0015 others(17): Show a0001c0003t0001g0124 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0082	20	298	0.0671	10	c.251 others(27): Show c.251+2569_251+2578dupGTGTGTGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92076939	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0016 a0006c0005t0016	a0006c0005t0016g0070 a0006c0005t0016g0070	1	402	0.0025	10	c.872 others(27): Show c.872+4016_872+4025dupTTTTTTTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92086253	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01167.hp1 others(23): Show HG00323.hp2 HG01069.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01496.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03540.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0007 a0010 a0012 others(7): Show a0007 a0010 a0012 a0023 a0024 a0025 a0035 a0036 a0052 a0053	a0007c0010 a0010c0011 a0012c0016 others(8): Show a0007c0010 a0010c0011 a0012c0016 a0023c0031 a0023c0041 a0024c0028 a0025c0027 a0035c0040 a0036c0043 a0052c0062 a0053c0061	a0007c0010t0006 a0007c0010t0024 a0007c0010t0052 others(17): Show a0007c0010t0006 a0007c0010t0024 a0007c0010t0052 a0007c0010t0053 a0010c0011t0006 a0010c0011t0019 a0010c0011t0047 a0010c0011t0049 a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 a0012c0016t0046 a0023c0031t0006 a0023c0041t0006 a0024c0028t0048 a0025c0027t0030 a0035c0040t0006 a0036c0043t0006 a0052c0062t0006 a0053c0061t0006	a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0024g0124 others(23): Show a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0024g0124 a0007c0010t0024g0126 a0007c0010t0024g0127 a0007c0010t0052g0207 a0007c0010t0053g0123 a0010c0011t0006g0366 a0010c0011t0006g0372 a0010c0011t0019g0142 a0010c0011t0019g0375 a0010c0011t0047g0374 a0010c0011t0049g0376 a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 a0012c0016t0030g0379 a0012c0016t0046g0014 a0023c0031t0006g0371 a0023c0041t0006g0378 a0024c0028t0048g0380 a0025c0027t0030g0389 a0035c0040t0006g0365 a0036c0043t0006g0369 a0052c0062t0006g0013 a0053c0061t0006g0368	26	402	0.0647	10	c.475 others(27): Show c.475+2467_475+2476dupTTTTTTTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	6/10			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01515.hp1 others(27): Show HG00323.hp1 HG00673.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02071.hp2 HG02559.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03942.hp1 HG04199.hp1 NA18950.hp1 NA18954.hp2 NA18962.hp1 NA18989.hp2 NA19000.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp1 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042	a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0142 others(27): Show a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0245 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0004g0039 a0001c0001t0005g0025 a0001c0001t0005g0159 a0001c0001t0005g0182 a0001c0001t0008g0175 a0001c0001t0009g0020 a0001c0001t0010g0091 a0001c0001t0010g0095 a0001c0001t0011g0170 a0001c0001t0013g0243 a0001c0001t0014g0233 a0001c0001t0015g0019 a0001c0001t0018g0094 a0001c0001t0019g0178 a0001c0001t0023g0183 a0001c0001t0027g0134 a0001c0001t0039g0180 a0001c0001t0041g0196 a0001c0001t0042g0161	30	252	0.1191	10	c.151 others(29): Show c.1517+1050_1517+1059dupAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641212	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02647.hp1 HG03098.hp2 HG00323.hp2 HG02647.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0040 a0001c0001t0008 a0001c0001t0014 a0001c0001t0040	a0001c0001t0008g0216 a0001c0001t0014g0237 a0001c0001t0040g0207 a0001c0001t0008g0216 a0001c0001t0014g0237 a0001c0001t0040g0207	3	252	0.0119	10	c.862 others(27): Show c.862+1625_862+1626insAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641214	C C	CTCTTTTT others(3): Show CTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01256.hp2 others(14): Show HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02280.hp1 HG02630.hp2 HG03688.hp1 HG03831.hp2 NA18957.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0009 a0001c0001 a0003c0003 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0037 a0001c0001t0062 a0003c0003t0020 a0007c0009t0007	a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0004 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0235 a0001c0001t0012g0244 a0001c0001t0013g0241 a0001c0001t0013g0242 a0001c0001t0014g0038 a0001c0001t0015g0060 a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0025g0104 a0001c0001t0037g0065 a0001c0001t0062g0007 a0003c0003t0020g0199 a0007c0009t0007g0096	17	252	0.0675	10	c.862 others(27): Show c.862+1623_862+1624insAAAAAAAAGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp2 others(26): Show HG00738.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02132.hp1 HG02165.hp2 HG02300.hp1 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02818.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp2 NA18962.hp1 NA18970.hp2 NA18994.hp2 NA18995.hp1 NA19009.hp1 NA19030.hp1 NA19056.hp2 NA19068.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0004t0010 a0001c0006t0001 a0001c0007t0038 a0002c0002t0032	a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0106 others(26): Show a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0002g0160 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0003g0004 a0001c0001t0003g0118 a0001c0001t0003g0147 a0001c0001t0003g0171 a0001c0001t0003g0238 a0001c0001t0004g0203 a0001c0001t0005g0126 a0001c0001t0009g0054 a0001c0001t0009g0146 a0001c0001t0010g0111 a0001c0001t0010g0228 a0001c0001t0011g0143 a0001c0001t0013g0129 a0001c0001t0014g0123 a0001c0001t0018g0094 a0001c0001t0021g0227 a0001c0001t0028g0037 a0001c0001t0029g0215 a0001c0001t0031g0172 a0001c0004t0010g0154 a0001c0006t0001g0112 a0001c0007t0038g0158 a0002c0002t0032g0149	29	252	0.1151	10	c.356 others(27): Show c.356-5826_356-5817dupTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692362	T T	TTTTTCTT others(3): Show TTTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0202 a0001c0001t0007g0202	1	252	0.0040	10	c.356 others(29): Show c.356-27075_356-27074insGGAAAGAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727744	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	252	0.0040	10	c.355 others(29): Show c.355+60859_355+60860insTATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02015.hp2 others(8): Show HG01074.hp1 HG01109.hp1 HG02015.hp2 HG02155.hp2 HG02280.hp1 HG03225.hp1 HG06807.hp2 NA18747.hp2 NA18970.hp1 NA19060.hp2 NA19067.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0037 a0002c0002t0022 a0003c0003t0005	a0001c0001t0001g0078 a0001c0001t0003g0100 a0001c0001t0005g0025 others(8): Show a0001c0001t0001g0078 a0001c0001t0003g0100 a0001c0001t0005g0025 a0001c0001t0006g0034 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0017g0194 a0001c0001t0026g0189 a0001c0001t0037g0065 a0002c0002t0022g0066 a0003c0003t0005g0079	11	252	0.0437	10	c.355 others(29): Show c.355+60857_355+60858insTATATATACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727751	T T	TATATACA others(3): Show TATATACATAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	252	0.0040	10	c.355 others(29): Show c.355+60852_355+60853insGTATGTATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0156 a0001c0001t0013g0156	1	252	0.0040	10	c.355 others(29): Show c.355+60826_355+60827insGTGTGTGTAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(3): Show AAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02148.hp1 others(4): Show HG01257.hp2 HG01258.hp1 HG02148.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0011 a0001c0001 a0001c0004 a0005c0011	a0001c0001t0008 a0001c0001t0020 a0001c0001t0027 others(4): Show a0001c0001t0008 a0001c0001t0020 a0001c0001t0027 a0001c0001t0031 a0001c0001t0044 a0001c0004t0010 a0005c0011t0008	a0001c0001t0008g0075 a0001c0001t0020g0169 a0001c0001t0027g0134 others(4): Show a0001c0001t0008g0075 a0001c0001t0020g0169 a0001c0001t0027g0134 a0001c0001t0031g0172 a0001c0001t0044g0110 a0001c0004t0010g0154 a0005c0011t0008g0092	7	252	0.0278	10	c.355 others(29): Show c.355+56846_355+56855dupCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105737528	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02083.hp1 others(9): Show HG01192.hp2 HG01243.hp1 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02735.hp1 HG02895.hp2 HG03490.hp2 NA18943.hp1 NA18945.hp1 NA19043.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0012 a0001c0001 a0001c0004 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0064 a0001c0004t0010 a0001c0012t0003	a0001c0001t0001g0174 a0001c0001t0002g0016 a0001c0001t0002g0186 others(9): Show a0001c0001t0001g0174 a0001c0001t0002g0016 a0001c0001t0002g0186 a0001c0001t0003g0011 a0001c0001t0013g0156 a0001c0001t0015g0193 a0001c0001t0016g0176 a0001c0001t0028g0037 a0001c0001t0028g0114 a0001c0001t0064g0098 a0001c0004t0010g0154 a0001c0012t0003g0047	12	252	0.0476	10	c.355 others(29): Show c.355+51066_355+51075dupACACACACAC	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105759484	G G	GTGTGTGT others(3): Show GTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01981.hp1 others(5): Show HG00738.hp2 HG01074.hp1 HG01981.hp1 HG02818.hp1 HG03098.hp2 HG03209.hp2 HG03942.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0040	a0001c0001t0001g0181 a0001c0001t0006g0116 a0001c0001t0009g0020 others(5): Show a0001c0001t0001g0181 a0001c0001t0006g0116 a0001c0001t0009g0020 a0001c0001t0010g0111 a0001c0001t0015g0019 a0001c0001t0017g0113 a0001c0001t0017g0194 a0001c0001t0040g0207	8	252	0.0318	10	c.355 others(29): Show c.355+29119_355+29120insAACACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105784435	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG02055.hp1 others(3): Show HG00741.hp1 HG00741.hp2 HG02055.hp1 HG02723.hp2 HG02818.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0002c0002t0022	a0001c0001t0001g0181 a0001c0001t0006g0168 a0001c0001t0019g0062 others(3): Show a0001c0001t0001g0181 a0001c0001t0006g0168 a0001c0001t0019g0062 a0001c0001t0021g0184 a0001c0001t0022g0224 a0002c0002t0022g0220	6	252	0.0238	10	c.355 others(27): Show c.355+4159_355+4168dupGTGTGTGTGT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105829267	C C	CAAACAAA others(3): Show CAAACAAAACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0114 a0001c0001t0028g0114	1	252	0.0040	10	c.251 others(29): Show c.251-40569_251-40560dupTGTTTTGTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860128	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02148.hp2 NA19066.hp1 HG02145.hp2 HG02148.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0026 a0001c0001t0063 a0001c0001t0010 a0001c0001t0026 a0001c0001t0063	a0001c0001t0010g0032 a0001c0001t0026g0234 a0001c0001t0063g0041 a0001c0001t0010g0032 a0001c0001t0026g0234 a0001c0001t0063g0041	3	252	0.0119	10	c.250 others(29): Show c.250+15674_250+15683dupATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109482858	C C	CGGCGGGG others(3): Show CGGCGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01975.hp2 HG02486.hp1 others(7): Show HG00639.hp2 HG01975.hp2 HG02486.hp1 HG03130.hp1 HG03540.hp1 HG03927.hp2 HG04199.hp1 NA18949.hp1 NA18949.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0010 a0001c0001 a0002c0002 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 a0002c0002t0002g0005 a0003c0010t0002g0005	10	332	0.0301	10	c.-10 others(21): Show c.-1096_-1095insGGCGGGGGGG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1046		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(3): Show CGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01975.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19074.hp1 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0007 a0001c0001 a0001c0009 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0002 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0003g0015 a0001c0009t0002g0001 a0004c0007t0001g0001	89	332	0.2681	10	c.-10 others(21): Show c.-1093_-1092insGGGGGGGGCG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482862	G G	GGGGGGGG others(3): Show GGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp1 others(4): Show HG02257.hp1 HG02451.hp1 HG02630.hp1 HG02976.hp1 HG03209.hp1 HG03516.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0004 a0002c0002t0002g0005 a0001c0001t0002g0004 a0002c0002t0002g0005	7	332	0.0211	10	c.-10 others(21): Show c.-1092_-1091insGGGGGGGGGC	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1042		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02630.hp2 HG01175.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0031 a0001c0002t0009 a0001c0003t0031	a0001c0002t0009g0000 a0001c0003t0031g0000 a0001c0002t0009g0000 a0001c0003t0031g0000	2	408	0.0049	10	c.-14 others(21): Show c.-1443_-1442insTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63865894	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0140 a0002c0002t0018g0140	1	300	0.0033	10	c.-11 others(29): Show c.-111+1758_-111+1767dupAAAAAAAAAA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63892374	C C	CAACACAC others(3): Show CAACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	300	0.0033	10	c.-11 others(29): Show c.-110-6025_-110-6024insAACACACACA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12			chr3	TogoVar
ATXN7_chr3_63858867_64008462	63964073	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0020 a0009c0009t0020	a0009c0009t0020g0154 a0009c0009t0020g0154	1	300	0.0033	10	c.499 others(29): Show c.499+11617_499+11626dupACACACACAC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63982623	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18945.hp1 NA19030.hp1 HG01934.hp2 NA18945.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0054 a0004c0006t0004 a0001c0001t0001 a0001c0001t0054 a0004c0006t0004	a0001c0001t0001g0128 a0001c0001t0054g0083 a0004c0006t0004g0132 a0001c0001t0001g0128 a0001c0001t0054g0083 a0004c0006t0004g0132	3	300	0.0100	10	c.101 others(27): Show c.1012+205_1012+214dupGTGTGTGTGT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUNIP_chr1_25829006_25864457	25843181	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03490.hp1 HG03492.hp1 others(8): Show HG01081.hp1 HG03490.hp1 HG03492.hp1 HG04228.hp2 NA18944.hp1 NA18961.hp2 NA18972.hp2 NA18986.hp1 NA19000.hp2 NA19011.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 others(7): Show a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0005g0047 a0001c0001t0010g0018 a0001c0001t0010g0049 a0001c0001t0010g0051 a0001c0001t0010g0054 a0001c0001t0010g0056	11	352	0.0313	10	c.79- others(25): Show c.79-5628_79-5627insATATATATAT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUNIP_chr1_25829006_25864457	25843183	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01516.hp1 HG01517.hp1 HG00323.hp2 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	3	352	0.0085	10	c.79- others(25): Show c.79-5630_79-5629insATATATATAT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUNIP_chr1_25829006_25864457	25843185	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	352	0.0028	10	c.79- others(25): Show c.79-5641_79-5632dupATATATATAT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AUNIP_chr1_25829006_25864457	25846416	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	352	0.0028	10	c.79- others(25): Show c.79-8872_79-8863dupTTTTTTTTTT	AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	1/2			chr1	TogoVar
AURKA_chr20_56364390_56397215	56393131	T T	TATATATA others(3): Show TATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02809.hp2 HG02895.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0198 a0003c0003t0002g0254 a0001c0001t0002g0198 a0003c0003t0002g0254	2	384	0.0052	10	c.-97 others(19): Show c.-970_-969insGTGTATATAT	AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding		917		chr20	TogoVar
AURKB_chr17_8199734_8215575	8214605	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02735.hp1 HG02109.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	428	0.0047	10	c.-41 others(21): Show c.-4102_-4101insGTGTGTGTGT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4031		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(3): Show TAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(33): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp2 HG02738.hp1 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA19060.hp2 NA19062.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 others(6): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0010g0003	36	410	0.0878	10	c.41 others(21): Show c.4170_*4171insAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar

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