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
ATP9B_chr18_79064394_79383283	79358520	TCCGTGTG others(7): Show TCCGTGTGAGGGACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	298	0.0201	-14	c.290 others(31): Show c.2904-832_2904-819delCGTGTGAGGGACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376172	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	298	0.0034	-14	c.330 others(31): Show c.3307+776_3307+789delCACACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18017171	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0242 a0001c0001t0001g0246	2	328	0.0061	-14	c.13 others(25): Show c.1364_*1377delTTTTTTTTTTTTTT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding		849		chr17	TogoVar
ATPAF2_chr17_18013021_18044168	18017195	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02135.hp1 others(8): Show HG00609.hp1 HG02056.hp1 HG02135.hp1 NA18949.hp1 NA18952.hp2 NA18980.hp2 NA18981.hp2 NA19001.hp1 NA19004.hp1 NA19083.hp2 NA19088.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0003 a0004c0005t0003 a0002c0002t0003 a0004c0005t0003	a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0032 others(8): Show a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0004c0005t0003g0034 a0004c0005t0003g0039	11	328	0.0335	-14	c.13 others(25): Show c.1340_*1353delATTTTTTTTTTTTT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding		825		chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp1 NA18995.hp1 HG01109.hp1 HG02723.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0004 a0002c0008t0011 a0002c0008t0044 a0001c0002t0004 a0002c0008t0011 a0002c0008t0044	a0001c0002t0004g0056 a0002c0008t0011g0073 a0002c0008t0044g0063 a0001c0002t0004g0056 a0002c0008t0011g0073 a0002c0008t0044g0063	3	128	0.0234	-14	c.153 others(35): Show c.1533-10662_1533-10649delGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389540	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG02572.hp2 others(3): Show HG01123.hp2 HG01258.hp2 HG02572.hp2 HG03239.hp1 HG04115.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0015t0034	a0001c0001t0001g0096 a0001c0001t0001g0124 a0001c0001t0003g0104 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0124 a0001c0001t0003g0104 a0001c0002t0001g0048 a0001c0002t0005g0046 a0001c0015t0034g0110	6	128	0.0469	-14	c.317 others(33): Show c.3176-5081_3176-5068delATATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389578	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0003 a0001c0005t0018g0003	1	128	0.0078	-14	c.317 others(33): Show c.3176-5079_3176-5066delATATATATATATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115630827	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp2 HG03471.hp2 others(2): Show HG02055.hp1 HG02809.hp2 HG03471.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0010 a0001c0003t0015 a0001c0003t0038 others(1): Show a0001c0001t0010 a0001c0003t0015 a0001c0003t0038 a0001c0006t0033	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0003t0015g0108 others(2): Show a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0003t0015g0108 a0001c0003t0038g0106 a0001c0006t0033g0035	5	128	0.0391	-14	c.379 others(35): Show c.3795+81325_3795+81338delCACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115689364	TTTTTTAT others(7): Show TTTTTTATGTAGGCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	-14	c.379 others(35): Show c.3796-37880_3796-37867delTTATGTAGGCATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115694172	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp2 HG00738.hp1 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0052 a0001c0002t0001g0041 a0001c0002t0001g0052	2	128	0.0156	-14	c.379 others(35): Show c.3796-33058_3796-33045delACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115696123	CTCCTGAG others(7): Show CTCCTGAGCTCGTGA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02055.hp2 HG02132.hp1 others(6): Show HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02818.hp2 HG03239.hp1 HG04115.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0001c0003t0002	a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0003g0061 a0001c0001t0003g0104 a0001c0001t0008g0082 a0001c0001t0029g0075 a0001c0003t0002g0081	9	128	0.0703	-14	c.379 others(35): Show c.3796-31121_3796-31108delTGAGCTCGTGATCC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738126	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0073 a0002c0008t0011g0073	1	128	0.0078	-14	c.390 others(35): Show c.3903+10788_3903+10801delTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740841	CACACACA others(7): Show CACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 HG02559.hp2 others(2): Show HG00639.hp1 HG01952.hp2 HG02559.hp2 HG06807.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0012t0001	a0001c0001t0006g0109 a0001c0001t0008g0079 a0001c0001t0010g0018 others(2): Show a0001c0001t0006g0109 a0001c0001t0008g0079 a0001c0001t0010g0018 a0001c0002t0001g0052 a0001c0012t0001g0071	5	128	0.0391	-14	c.390 others(35): Show c.3903+13498_3903+13511delCAAACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01123.hp1 others(24): Show HG00741.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG02015.hp1 HG02015.hp2 HG02132.hp2 HG02145.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA19070.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0035 a0001c0002t0004 a0001c0002t0005 a0001c0002t0028 a0001c0003t0004 a0001c0003t0047 a0001c0006t0009 a0001c0010t0006 a0001c0015t0034	a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0070 others(24): Show a0001c0001t0001g0036 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0011g0112 a0001c0001t0013g0019 a0001c0001t0025g0021 a0001c0001t0035g0118 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0028g0076 a0001c0003t0004g0042 a0001c0003t0047g0128 a0001c0006t0009g0038 a0001c0010t0006g0087 a0001c0015t0034g0110	27	128	0.2109	-14	c.390 others(35): Show c.3904-10363_3904-10350delACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	128	0.0078	-14	c.401 others(35): Show c.4018+20843_4018+20856delTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115949770	CTGCCGCC others(7): Show CTGCCGCCTCCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0043	1	128	0.0078	-14	c.49 others(25): Show c.4992_*5005delTGCCGCCTCCCAGG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding		772		chr10	TogoVar
ATRN_chr20_3466018_3656118	3492863	GCGCGTGC others(7): Show GCGCGTGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0034 a0015c0021t0034	a0015c0021t0034g0204 a0015c0021t0034g0204	1	220	0.0046	-14	c.410 others(33): Show c.410+21348_410+21361delGCGTGCGCACGCAC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01433.hp1 HG00639.hp1 HG01074.hp1 HG01433.hp1	a0003 a0003	a0003c0008 a0003c0018 a0003c0008 a0003c0018	a0003c0008t0005 a0003c0018t0007 a0003c0008t0005 a0003c0018t0007	a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0018t0007g0200 a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0018t0007g0200	3	220	0.0136	-14	c.494 others(29): Show c.494+278_494+291delCACACACACACACA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3602963	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(2): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01358.hp2 HG01433.hp1	a0003 a0003	a0003c0008 a0003c0017 a0003c0018 a0003c0008 a0003c0017 a0003c0018	a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 others(1): Show a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007	a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0008t0029g0196 others(2): Show a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0008t0029g0196 a0003c0017t0021g0199 a0003c0018t0007g0200	5	220	0.0227	-14	c.364 others(33): Show c.3644-1123_3644-1110delAAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	218	0.0046	-14	c.621 others(33): Show c.6217+4237_6217+4250delTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18947.hp1 HG02280.hp2 NA18947.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0002 a0006c0008t0003 a0001c0001t0002 a0006c0008t0003	a0001c0001t0002g0156 a0006c0008t0003g0203 a0001c0001t0002g0156 a0006c0008t0003g0203	2	218	0.0092	-14	c.513 others(33): Show c.5135-5510_5135-5497delATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790932	GTGTATAT others(7): Show GTGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(69): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02273.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0006 a0002c0002 a0002c0004 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0004t0001 a0002c0004t0003 a0003c0006t0001	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 others(69): Show a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0097 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0204 a0002c0002t0001g0209 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0032 a0002c0002t0002g0037 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0110 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0177 a0002c0002t0006g0056 a0002c0002t0006g0207 a0002c0002t0013g0008 a0002c0002t0015g0043 a0002c0002t0016g0046 a0002c0004t0001g0009 a0002c0004t0001g0023 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0003g0030 a0003c0006t0001g0015 a0003c0006t0001g0159	72	218	0.3303	-14	c.-49 others(25): Show c.-4945_-4932delTATATATATATACA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4717		chrX	TogoVar
ATR_chr3_142444235_142583733	142481079	GCTGCACC others(7): Show GCTGCACCCACTGTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0031 a0010c0014t0001g0031	1	322	0.0031	-14	c.622 others(33): Show c.6221+4047_6221+4060delGACAGTGGGTGCAG	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03831.hp2 HG00280.hp2 HG03831.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0266 a0002c0007t0001g0270 a0002c0007t0001g0266 a0002c0007t0001g0270	2	322	0.0062	-14	c.589 others(29): Show c.5898+69_5898+82delTATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45740679	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0063 a0003c0002t0001g0063	1	316	0.0032	-14	c.117 others(31): Show c.1173+169_1173+182delCACACACACACACA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751739	GGAAAAAA others(7): Show GGAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0135 a0001c0001t0011g0135	1	316	0.0032	-14	c.117 others(35): Show c.1173+11202_1173+11215delGAAAAAAAAAAAAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11			chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751752	AAATAAAA others(7): Show AAATAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01981.hp1 HG02630.hp1 others(3): Show HG01243.hp2 HG01981.hp1 HG02630.hp1 HG02965.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0210 a0001c0001t0001g0211 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0309	6	316	0.0190	-14	c.117 others(35): Show c.1173+11220_1173+11233delAAAAAAAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG03453.hp2 HG02809.hp1 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0008g0300 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0008g0300	3	316	0.0095	-14	c.117 others(35): Show c.1173+12874_1173+12887delTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45827129	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01109.hp2 others(35): Show HG00738.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0003c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(35): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0316 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0202 a0001c0001t0002g0212 a0001c0001t0005g0070 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0009g0133 a0001c0001t0012g0080 a0003c0002t0001g0063	38	316	0.1203	-14	c.123 others(35): Show c.1238-15832_1238-15819delACACACACACACAC	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16296660	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0096 a0004c0005t0002g0096	1	182	0.0055	-14	c.96 others(25): Show c.9655_*9668delAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding		2451		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp2 NA18522.hp1 NA19240.hp2	a0018 a0035 a0018 a0035	a0018c0056 a0035c0036 a0018c0056 a0035c0036	a0018c0056t0007 a0035c0036t0007 a0018c0056t0007 a0035c0036t0007	a0018c0056t0007g0011 a0035c0036t0007g0019 a0018c0056t0007g0011 a0035c0036t0007g0019	2	182	0.0110	-14	c.191 others(33): Show c.1918-1477_1918-1464delTGTGTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16439359	GGCGGGGC others(7): Show GGCGGGGCCGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02630.hp1 HG00735.hp1 HG02630.hp1	a0009 a0013 a0009 a0013	a0009c0042 a0013c0038 a0009c0042 a0013c0038	a0009c0042t0011 a0013c0038t0034 a0009c0042t0011 a0013c0038t0034	a0009c0042t0011g0047 a0013c0038t0034g0139 a0009c0042t0011g0047 a0013c0038t0034g0139	2	182	0.0110	-14	c.-16 others(35): Show c.-161+46599_-161+46612delGCCCCCGGCCCCGC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0046 a0002c0004t0001g0046	1	182	0.0055	-14	c.-16 others(35): Show c.-161+31833_-161+31846delTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581212	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0042 a0009c0042	a0009c0042t0011 a0009c0042t0011	a0009c0042t0011g0047 a0009c0042t0011g0047	1	182	0.0055	-14	c.-36 others(33): Show c.-361+4554_-361+4567delGCACACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581214	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0006 a0005c0006t0003g0006	1	182	0.0055	-14	c.-36 others(33): Show c.-361+4552_-361+4565delGCGCACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16711539	CATATATA others(7): Show CATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0003 a0011c0007t0003	a0011c0007t0003g0066 a0011c0007t0003g0066	1	182	0.0055	-14	c.-61 others(35): Show c.-615+41680_-615+41693delATGTGTATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(7): Show GCCCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(6): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG01934.hp2 HG02165.hp2 NA18972.hp2 NA19001.hp1 NA19054.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0003g0001 a0001c0001t0014g0001	9	382	0.0236	-14	c.-32 others(23): Show c.-324_-311delCCCCCCCCCCCCCC	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111583766	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18983.hp1 HG02071.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0001 a0001c0012t0001 a0001c0003t0001 a0001c0012t0001	a0001c0003t0001g0134 a0001c0012t0001g0153 a0001c0003t0001g0134 a0001c0012t0001g0153	2	298	0.0067	-14	c.251 others(33): Show c.251+15004_251+15017delTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0075 a0002c0002t0003g0075	1	298	0.0034	-14	c.251 others(31): Show c.251+9779_251+9792delTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	252	0.0040	-14	c.151 others(31): Show c.1517+662_1517+675delAAAAAAAATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG03669.hp2 HG01243.hp2 HG01257.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0031 a0001c0001t0012 a0001c0001t0013 a0001c0001t0031	a0001c0001t0012g0244 a0001c0001t0013g0129 a0001c0001t0031g0172 a0001c0001t0012g0244 a0001c0001t0013g0129 a0001c0001t0031g0172	3	252	0.0119	-14	c.151 others(31): Show c.1517+656_1517+669delAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0039 a0001c0001t0013 a0001c0001t0039	a0001c0001t0013g0156 a0001c0001t0039g0180 a0001c0001t0013g0156 a0001c0001t0039g0180	2	252	0.0079	-14	c.356 others(33): Show c.356-57286_356-57273delTTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105737528	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(76): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp2 NA18962.hp2 NA18971.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0062 a0001c0005t0007 a0001c0007t0038 a0002c0002t0022 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0059	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0078 others(76): Show a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0078 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0201 a0001c0001t0001g0225 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0179 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0171 a0001c0001t0003g0238 a0001c0001t0004g0023 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0203 a0001c0001t0005g0014 a0001c0001t0005g0027 a0001c0001t0006g0067 a0001c0001t0006g0117 a0001c0001t0006g0168 a0001c0001t0007g0217 a0001c0001t0007g0223 a0001c0001t0008g0015 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0146 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0014g0233 a0001c0001t0015g0109 a0001c0001t0016g0136 a0001c0001t0017g0194 a0001c0001t0018g0046 a0001c0001t0018g0131 a0001c0001t0021g0184 a0001c0001t0023g0183 a0001c0001t0023g0247 a0001c0001t0024g0250 a0001c0001t0029g0072 a0001c0001t0039g0180 a0001c0001t0040g0207 a0001c0001t0047g0121 a0001c0001t0051g0035 a0001c0001t0052g0133 a0001c0001t0053g0031 a0001c0001t0062g0007 a0001c0005t0007g0209 a0001c0007t0038g0158 a0002c0002t0022g0066 a0002c0002t0030g0208 a0002c0002t0032g0149 a0002c0002t0032g0226 a0002c0002t0033g0221 a0002c0002t0059g0200	79	252	0.3135	-14	c.355 others(33): Show c.355+51062_355+51075delACACACACACACAC	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105772063	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0065 a0001c0001t0037g0065	1	252	0.0040	-14	c.355 others(33): Show c.355+16527_355+16540delAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105850430	GCATTTCC others(7): Show GCATTTCCCATGGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0213 a0001c0001t0017g0213	1	252	0.0040	-14	c.250 others(33): Show c.250+25368_250+25381delGCCCATGGGAAATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860134	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02559.hp2 HG03942.hp2 HG01516.hp1 HG02559.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025	a0001c0001t0006g0197 a0001c0001t0010g0051 a0001c0001t0025g0104 a0001c0001t0006g0197 a0001c0001t0010g0051 a0001c0001t0025g0104	3	252	0.0119	-14	c.250 others(33): Show c.250+15664_250+15677delGTATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109482752	TTGCTCCC others(7): Show TTGCTCCCCAACTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	332	0.0030	-14	c.-12 others(25): Show c.-1201_-1188delTGCTCCCCAACTTG	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding		1152		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533851	AAAAAAAA others(7): Show AAAAAAAATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0040 a0001c0002t0004 a0001c0002t0040	a0001c0002t0004g0000 a0001c0002t0040g0000 a0001c0002t0004g0000 a0001c0002t0040g0000	2	408	0.0049	-14	c.-42 others(25): Show c.-4261_-4248delAAAAAAATAAAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3983		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63884203	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0291 a0001c0001t0007g0292	2	300	0.0067	-14	c.-11 others(35): Show c.-110-14171_-110-14158delCACACACACACACA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63940285	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0015 a0002c0002t0051g0015	1	300	0.0033	-14	c.395 others(33): Show c.395-12065_395-12052delCACACACACACACA	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr3	TogoVar

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