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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115606046	TTATTGTA others(4): Show TTATTGTATTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 NA18906.hp2 HG02559.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0024 a0001c0001t0010 a0001c0001t0019 a0001c0001t0024	a0001c0001t0010g0018 a0001c0001t0019g0020 a0001c0001t0024g0024 a0001c0001t0010g0018 a0001c0001t0019g0020 a0001c0001t0024g0024	3	128	0.0234	-11	c.379 others(32): Show c.3795+56514_3795+56524delTGTATTCCTAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115728298	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0107 a0001c0001t0048g0107	1	128	0.0078	-11	c.390 others(28): Show c.3903+958_3903+968delAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115730253	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp1 NA19030.hp1 HG02559.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0011 a0001c0003t0031 a0001c0001t0010 a0001c0001t0011 a0001c0003t0031	a0001c0001t0010g0018 a0001c0001t0011g0119 a0001c0003t0031g0016 a0001c0001t0010g0018 a0001c0001t0011g0119 a0001c0003t0031g0016	3	128	0.0234	-11	c.390 others(30): Show c.3903+2917_3903+2927delAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738126	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02723.hp2 others(1): Show HG02572.hp2 HG02630.hp1 HG02723.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015	a0001c0001t0007 a0001c0006t0013 a0001c0007t0030 others(1): Show a0001c0001t0007 a0001c0006t0013 a0001c0007t0030 a0001c0015t0034	a0001c0001t0007g0027 a0001c0006t0013g0029 a0001c0007t0030g0008 others(1): Show a0001c0001t0007g0027 a0001c0006t0013g0029 a0001c0007t0030g0008 a0001c0015t0034g0110	4	128	0.0313	-11	c.390 others(32): Show c.3903+10791_3903+10801delTTTTTTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115940687	CTCTCTCT others(4): Show CTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0064 a0001c0001t0015g0064	1	128	0.0078	-11	c.401 others(30): Show c.4019-3959_4019-3949delTCTCTCTCTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01243.hp1 others(10): Show HG00438.hp2 HG01109.hp1 HG01243.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02165.hp1 HG02647.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0001c0002t0006 a0001c0002t0008	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0010g0025 a0001c0001t0019g0129 a0001c0002t0006g0018 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0008g0130 a0001c0002t0008g0131 a0001c0002t0008g0132	13	220	0.0591	-11	c.410 others(30): Show c.410+14112_410+14122delTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554990	CTTTTTTT others(4): Show CTTTTTTTTTTT	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	-11	c.111 others(30): Show c.1113-4383_1113-4373delTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3602963	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0014 a0007c0027t0014	a0007c0027t0014g0029 a0007c0027t0014g0029	1	220	0.0046	-11	c.364 others(30): Show c.3644-1120_3644-1110delAAAAAAAAAAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	220	0.0046	-11	c.386 others(30): Show c.3864-3357_3864-3347delTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77565391	AAGACAAT others(4): Show AAGACAATCAAC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0009	1	218	0.0046	-11	c.632 others(30): Show c.6327-6556_6327-6546delGTTGATTGTCT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18962.hp1 HG03195.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0199 a0001c0001t0004g0190 a0001c0001t0002g0199 a0001c0001t0004g0190	2	218	0.0092	-11	c.621 others(30): Show c.6217+4240_6217+4250delTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77637939	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	218	0.0046	-11	c.455 others(30): Show c.4558-1894_4558-1884delTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77775514	CTCCACAA others(4): Show CTCCACAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	218	0.0046	-11	c.20+ others(28): Show c.20+10457_20+10467delTTTTTTGTGGA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77788178	TCACACCC others(4): Show TCACACCCTATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	218	0.0046	-11	c.-21 others(22): Show c.-2188_-2178delCATAGGGTGTG		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					1963		chrX	TogoVar
ATR_chr3_142444235_142583733	142458832	CAAATTCT others(4): Show CAAATTCTCAGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03942.hp1 HG04199.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055	3	322	0.0093	-11	c.750 others(28): Show c.7503+115_7503+125delACTGAGAATTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	44/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(4): Show CTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp2 others(17): Show HG00423.hp2 HG00597.hp1 HG01243.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp1 HG02129.hp2 HG02647.hp1 HG04184.hp1 NA18943.hp2 NA18956.hp2 NA18957.hp1 NA18977.hp1 NA19011.hp1 NA19057.hp1 NA19070.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0003 a0011c0019 a0001c0001 a0003c0003 a0011c0019	a0001c0001t0001 a0003c0003t0001 a0011c0019t0001 a0001c0001t0001 a0003c0003t0001 a0011c0019t0001	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0042 others(17): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0003c0003t0001g0180 a0003c0003t0001g0183 a0011c0019t0001g0064	20	322	0.0621	-11	c.589 others(26): Show c.5898+72_5898+82delATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	322	0.0031	-11	c.335 others(30): Show c.3358-1706_3358-1696delTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45670438	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02965.hp2 HG02055.hp2 HG02630.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0267 a0001c0001t0001g0290 a0001c0001t0001g0291	3	316	0.0095	-11	c.-16 others(22): Show c.-1625_-1615delTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding					1395		chr22	TogoVar
ATXN10_chr22_45666834_45850307	45709479	CTGTCTCA others(4): Show CTGTCTCATCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02717.hp2 others(4): Show HG01891.hp1 HG02622.hp1 HG02717.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0209 a0003c0002t0001g0063	7	316	0.0222	-11	c.647 others(28): Show c.647+6641_647+6651delCTTTGTCTCAT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751739	GGAAAAAA others(4): Show GGAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG02970.hp2 others(2): Show HG02622.hp1 HG02970.hp1 HG02970.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0001g0209 a0001c0001t0001g0266 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0002g0131	5	316	0.0158	-11	c.117 others(32): Show c.1173+11202_1173+11212delGAAAAAAAAAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11						chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751758	AAAAAAAA others(4): Show AAAAAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp2 HG02572.hp1 others(5): Show HG01433.hp1 HG02451.hp2 HG02572.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0001g0294 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0009g0133	8	316	0.0253	-11	c.117 others(32): Show c.1173+11223_1173+11233delAAAAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751761	AAAAATAA others(4): Show AAAAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18906.hp1 HG01109.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0085 a0001c0001t0005g0292 a0001c0001t0001g0085 a0001c0001t0005g0292	2	316	0.0063	-11	c.117 others(32): Show c.1173+11226_1173+11236delAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16311727	ACCTCTTA others(4): Show ACCTCTTAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp2 HG01884.hp2 others(18): Show HG00609.hp2 HG01346.hp2 HG01884.hp2 HG02056.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG04115.hp2 NA18612.hp2 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0027 a0031	a0001c0001 a0002c0002 a0004c0005 others(5): Show a0001c0001 a0002c0002 a0004c0005 a0005c0006 a0006c0008 a0007c0009 a0027c0049 a0031c0048	a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 others(7): Show a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 a0002c0002t0041 a0004c0005t0008 a0005c0006t0003 a0006c0008t0040 a0007c0009t0049 a0027c0049t0003 a0031c0048t0042	a0001c0001t0044g0118 a0002c0002t0003g0007 a0002c0002t0003g0061 others(18): Show a0001c0001t0044g0118 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0041g0079 a0004c0005t0008g0068 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0006c0008t0040g0154 a0007c0009t0049g0005 a0027c0049t0003g0149 a0031c0048t0042g0026	21	182	0.1154	-11	c.191 others(30): Show c.1918-4879_1918-4869delACTCTAAGAGG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(81): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18993.hp2 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0030 a0031 a0033 a0036	a0001c0001 a0001c0028 a0001c0052 others(34): Show a0001c0001 a0001c0028 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0041 a0005c0006 a0006c0008 a0006c0043 a0006c0046 a0007c0009 a0008c0012 a0008c0024 a0009c0016 a0010c0039 a0011c0007 a0012c0011 a0013c0013 a0015c0030 a0015c0055 a0016c0014 a0017c0022 a0017c0040 a0018c0054 a0018c0056 a0019c0026 a0020c0020 a0021c0021 a0023c0034 a0024c0018 a0030c0058 a0031c0048 a0033c0044 a0036c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0028t0015 a0001c0052t0047 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0003c0003t0021 a0004c0005t0002 a0004c0015t0001 a0004c0041t0001 a0005c0006t0003 a0005c0006t0006 a0006c0008t0040 a0006c0043t0010 a0006c0046t0001 a0007c0009t0002 a0007c0009t0049 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0016t0028 a0010c0039t0001 a0011c0007t0002 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0016c0014t0007 a0017c0022t0001 a0017c0040t0007 a0018c0054t0001 a0018c0056t0007 a0019c0026t0001 a0019c0026t0019 a0020c0020t0026 a0020c0020t0032 a0021c0021t0004 a0021c0021t0014 a0023c0034t0002 a0024c0018t0012 a0030c0058t0018 a0031c0048t0042 a0033c0044t0024 a0036c0037t0001	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0083 others(81): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0076 a0001c0001t0030g0021 a0001c0028t0015g0125 a0001c0052t0047g0060 a0002c0002t0002g0089 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0008g0138 a0002c0002t0016g0111 a0002c0004t0001g0046 a0002c0004t0001g0093 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0001g0039 a0003c0003t0001g0049 a0003c0003t0001g0109 a0003c0003t0001g0130 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0013g0027 a0003c0003t0021g0003 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0160 a0004c0015t0001g0152 a0004c0041t0001g0156 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0006c0008t0040g0154 a0006c0043t0010g0128 a0006c0046t0001g0012 a0007c0009t0002g0056 a0007c0009t0049g0005 a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0024t0001g0074 a0009c0016t0001g0034 a0009c0016t0028g0141 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0012c0011t0004g0050 a0012c0011t0023g0023 a0013c0013t0005g0036 a0013c0013t0005g0100 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0016c0014t0007g0155 a0017c0022t0001g0104 a0017c0022t0001g0146 a0017c0040t0007g0022 a0018c0054t0001g0115 a0018c0056t0007g0011 a0019c0026t0001g0098 a0019c0026t0019g0001 a0020c0020t0026g0088 a0020c0020t0032g0099 a0021c0021t0004g0069 a0021c0021t0014g0082 a0023c0034t0002g0124 a0024c0018t0012g0148 a0030c0058t0018g0054 a0031c0048t0042g0026 a0033c0044t0024g0048 a0036c0037t0001g0117	84	182	0.4615	-11	c.-16 others(32): Show c.-160-73783_-160-73773delAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16439338	CGGGGGGG others(4): Show CGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	182	0.0055	-11	c.-16 others(32): Show c.-161+46623_-161+46633delCCCCCCCCCCC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454123	CTCAAAAA others(4): Show CTCAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02486.hp1 others(9): Show HG01109.hp2 HG01496.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02886.hp1 HG02886.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03688.hp1	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0010 a0012 a0034	a0001c0028 a0002c0002 a0006c0008 others(5): Show a0001c0028 a0002c0002 a0006c0008 a0006c0043 a0007c0009 a0010c0010 a0012c0011 a0034c0047	a0001c0028t0015 a0002c0002t0003 a0006c0008t0011 others(5): Show a0001c0028t0015 a0002c0002t0003 a0006c0008t0011 a0006c0043t0010 a0007c0009t0002 a0010c0010t0006 a0012c0011t0004 a0034c0047t0002	a0001c0028t0015g0017 a0002c0002t0003g0007 a0002c0002t0003g0133 others(9): Show a0001c0028t0015g0017 a0002c0002t0003g0007 a0002c0002t0003g0133 a0006c0008t0011g0053 a0006c0043t0010g0128 a0007c0009t0002g0164 a0010c0010t0006g0008 a0010c0010t0006g0052 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0034c0047t0002g0029	12	182	0.0659	-11	c.-16 others(32): Show c.-161+31838_-161+31848delTTTTTTTTTGA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 NA18906.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp1	a0001 a0007 a0024 a0001 a0007 a0024	a0001c0028 a0007c0009 a0024c0018 a0001c0028 a0007c0009 a0024c0018	a0001c0028t0015 a0007c0009t0002 a0024c0018t0012 a0001c0028t0015 a0007c0009t0002 a0024c0018t0012	a0001c0028t0015g0125 a0007c0009t0002g0056 a0024c0018t0012g0148 a0001c0028t0015g0125 a0007c0009t0002g0056 a0024c0018t0012g0148	3	182	0.0165	-11	c.-16 others(32): Show c.-161+19644_-161+19654delTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16654558	AAAAAAAA others(4): Show AAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp2 others(25): Show HG00140.hp1 HG00423.hp2 HG00438.hp2 HG00735.hp2 HG01070.hp1 HG01109.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp2 HG02258.hp2 HG02300.hp2 HG02698.hp1 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp2 HG03834.hp1 HG04115.hp2 NA18942.hp1 NA18951.hp2 NA18973.hp1 NA19062.hp2 NA20752.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0011 a0012 a0015 a0017 a0019 a0020 a0026 a0027 a0028 a0037	a0001c0001 a0002c0002 a0002c0004 others(16): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0006c0008 a0008c0024 a0010c0039 a0011c0007 a0012c0011 a0015c0030 a0015c0055 a0017c0022 a0019c0026 a0020c0020 a0026c0061 a0027c0049 a0028c0053 a0037c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 a0002c0002t0008 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0021 a0003c0003t0022 a0004c0005t0002 a0006c0008t0002 a0006c0008t0010 a0008c0024t0001 a0010c0039t0001 a0011c0007t0002 a0012c0011t0004 a0015c0030t0004 a0015c0055t0004 a0017c0022t0001 a0019c0026t0019 a0020c0020t0032 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0037c0032t0002	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0002g0077 others(25): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0002g0077 a0001c0001t0044g0118 a0002c0002t0008g0081 a0002c0004t0001g0174 a0002c0004t0017g0121 a0003c0003t0001g0180 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0021g0003 a0003c0003t0022g0119 a0004c0005t0002g0160 a0006c0008t0002g0013 a0006c0008t0010g0038 a0008c0024t0001g0143 a0010c0039t0001g0181 a0011c0007t0002g0169 a0012c0011t0004g0144 a0015c0030t0004g0032 a0015c0055t0004g0067 a0017c0022t0001g0104 a0019c0026t0019g0001 a0020c0020t0032g0099 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0037c0032t0002g0170	28	182	0.1539	-11	c.-48 others(30): Show c.-489+3207_-489+3217delCTCTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16689500	CTTTTTTT others(4): Show CTTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG04199.hp1 HG01081.hp1 HG02451.hp2 HG04199.hp1	a0001 a0016 a0031 a0001 a0016 a0031	a0001c0001 a0016c0014 a0031c0048 a0001c0001 a0016c0014 a0031c0048	a0001c0001t0001 a0016c0014t0027 a0031c0048t0042 a0001c0001t0001 a0016c0014t0027 a0031c0048t0042	a0001c0001t0001g0159 a0016c0014t0027g0134 a0031c0048t0042g0026 a0001c0001t0001g0159 a0016c0014t0027g0134 a0031c0048t0042g0026	3	182	0.0165	-11	c.-61 others(32): Show c.-614-31610_-614-31600delAGAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714188	CACACACA others(4): Show CACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp1 others(32): Show HG00140.hp1 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01074.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02735.hp1 HG02895.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG04115.hp1 NA18747.hp2 NA18944.hp2 NA18955.hp1 NA18957.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp2 NA19030.hp1 NA19062.hp1 NA19062.hp2 NA19240.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0018 a0021 a0022 a0023 a0024 a0026 a0028 a0034 a0037 a0038	a0001c0001 a0001c0028 a0002c0002 others(19): Show a0001c0001 a0001c0028 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0008 a0008c0012 a0008c0024 a0010c0010 a0011c0007 a0018c0054 a0021c0021 a0022c0019 a0023c0035 a0024c0018 a0026c0061 a0028c0053 a0034c0047 a0037c0032 a0038c0033	a0001c0001t0002 a0001c0001t0020 a0001c0028t0015 others(25): Show a0001c0001t0002 a0001c0001t0020 a0001c0028t0015 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0004t0001 a0003c0003t0013 a0004c0005t0002 a0004c0005t0008 a0005c0006t0003 a0006c0008t0046 a0008c0012t0005 a0008c0024t0001 a0010c0010t0006 a0011c0007t0002 a0011c0007t0003 a0018c0054t0001 a0021c0021t0004 a0022c0019t0001 a0023c0035t0001 a0024c0018t0001 a0026c0061t0036 a0028c0053t0004 a0034c0047t0002 a0037c0032t0002 a0038c0033t0002	a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0001t0002g0129 others(32): Show a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0020g0002 a0001c0028t0015g0017 a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0004t0001g0080 a0002c0004t0001g0093 a0003c0003t0013g0027 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0008g0068 a0005c0006t0003g0051 a0005c0006t0003g0114 a0006c0008t0046g0062 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0024t0001g0074 a0010c0010t0006g0052 a0011c0007t0002g0162 a0011c0007t0003g0066 a0018c0054t0001g0115 a0021c0021t0004g0069 a0022c0019t0001g0025 a0023c0035t0001g0064 a0024c0018t0001g0009 a0026c0061t0036g0095 a0028c0053t0004g0065 a0034c0047t0002g0029 a0037c0032t0002g0170 a0038c0033t0002g0004	35	182	0.1923	-11	c.-61 others(32): Show c.-615+39034_-615+39044delTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16724782	ACTGTCAT others(4): Show ACTGTCATGACT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	182	0.0055	-11	c.-61 others(32): Show c.-615+28440_-615+28450delAGTCATGACAG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822934	GGCCCCCC others(4): Show GGCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	382	0.0026	-11	c.-32 others(20): Show c.-325_-315delGCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					64		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(4): Show GCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02602.hp1 NA19063.hp2 HG02027.hp1 HG02602.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006	3	382	0.0079	-11	c.-32 others(20): Show c.-324_-314delCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28838566	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp2 others(66): Show HG00099.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02698.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19067.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0001c0021 others(1): Show a0001c0001 a0001c0013 a0001c0021 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0013t0001 a0001c0021t0001 a0003c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0003g0004 a0001c0001t0006g0004 a0001c0001t0013g0003 a0001c0001t0015g0003 a0001c0013t0001g0004 a0001c0021t0001g0004 a0003c0009t0001g0003	69	382	0.1806	-11	c.23 others(22): Show c.2302_*2312delAAAAAAAAAAA		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					1335		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111481599	GCAGTTCC others(4): Show GCAGTTCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18950.hp1 HG02074.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0061 a0002c0002t0001g0069	2	298	0.0067	-11	c.252 others(30): Show c.2524+3655_2524+3665delTGATGGAACTG		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553572	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	298	0.0034	-11	c.348 others(26): Show c.348+575_348+585delTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111585801	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG02055.hp2 HG02109.hp2 HG02572.hp1 HG02818.hp1 HG02886.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0003 a0012 a0003 a0012	a0003c0004 a0012c0022 a0003c0004 a0012c0022	a0003c0004t0003 a0012c0022t0003 a0003c0004t0003 a0012c0022t0003	a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 others(9): Show a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0012c0022t0003g0118	12	298	0.0403	-11	c.251 others(30): Show c.251+12972_251+12982delTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18943.hp1 HG03239.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0245 a0002c0002t0001g0032 a0001c0001t0004g0245 a0002c0002t0001g0032	2	298	0.0067	-11	c.251 others(28): Show c.251+9782_251+9792delTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN3_chr14_92053552_92111582	92075156	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA18980.hp2 others(2): Show HG01069.hp2 HG01071.hp1 NA18980.hp2 NA18986.hp1 NA19088.hp2	a0019 a0028 a0042 a0019 a0028 a0042	a0019c0022 a0028c0037 a0042c0052 a0019c0022 a0028c0037 a0042c0052	a0019c0022t0014 a0028c0037t0014 a0042c0052t0014 a0019c0022t0014 a0028c0037t0014 a0042c0052t0014	a0019c0022t0014g0113 a0019c0022t0014g0115 a0028c0037t0014g0111 others(2): Show a0019c0022t0014g0113 a0019c0022t0014g0115 a0028c0037t0014g0111 a0028c0037t0014g0114 a0042c0052t0014g0112	5	402	0.0124	-11	c.873 others(28): Show c.873-4114_873-4104delAAAAAAAAAAA		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105604255	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG02630.hp1 HG01074.hp2 HG01081.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0001c0001t0033 a0002c0002t0032 a0001c0001t0017 a0001c0001t0033 a0002c0002t0032	a0001c0001t0017g0213 a0001c0001t0033g0040 a0002c0002t0032g0226 a0001c0001t0017g0213 a0001c0001t0033g0040 a0002c0002t0032g0226	3	252	0.0119	-11	c.35 others(22): Show c.3586_*3596delTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding					516		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	252	0.0040	-11	c.151 others(30): Show c.1517+1049_1517+1059delAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG02559.hp1 others(5): Show HG00280.hp1 HG01069.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp2 HG03139.hp1 NA19086.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0013 a0001c0001 a0002c0002 a0004c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0027 a0002c0002t0022 a0004c0013t0036	a0001c0001t0003g0070 a0001c0001t0004g0039 a0001c0001t0004g0084 others(5): Show a0001c0001t0003g0070 a0001c0001t0004g0039 a0001c0001t0004g0084 a0001c0001t0004g0219 a0001c0001t0008g0075 a0001c0001t0027g0134 a0002c0002t0022g0220 a0004c0013t0036g0107	8	252	0.0318	-11	c.151 others(28): Show c.1517+659_1517+669delAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105639965	GGAGAGCC others(4): Show GGAGAGCCACCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 NA19043.hp1 HG01891.hp2 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0045 a0001c0001t0056 a0001c0001t0028 a0001c0001t0045 a0001c0001t0056	a0001c0001t0028g0114 a0001c0001t0045g0190 a0001c0001t0056g0210 a0001c0001t0028g0114 a0001c0001t0045g0190 a0001c0001t0056g0210	3	252	0.0119	-11	c.863 others(26): Show c.863-407_863-397delAGGTGGCTCTC		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664487	CATATATG others(4): Show CATATATGTATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00642.hp1 others(58): Show HG00280.hp2 HG00558.hp1 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp2 NA18970.hp1 NA18989.hp2 NA18995.hp2 NA19003.hp2 NA19010.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0051 a0001c0001t0054 a0002c0002t0030 a0003c0003t0020 a0006c0010t0031	a0001c0001t0001g0082 a0001c0001t0001g0205 a0001c0001t0001g0214 others(58): Show a0001c0001t0001g0082 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0003g0029 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0100 a0001c0001t0004g0023 a0001c0001t0004g0203 a0001c0001t0004g0219 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0126 a0001c0001t0005g0206 a0001c0001t0006g0001 a0001c0001t0007g0202 a0001c0001t0007g0223 a0001c0001t0008g0015 a0001c0001t0008g0073 a0001c0001t0009g0055 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0010g0051 a0001c0001t0011g0012 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0011g0170 a0001c0001t0012g0028 a0001c0001t0013g0236 a0001c0001t0013g0243 a0001c0001t0014g0083 a0001c0001t0016g0069 a0001c0001t0017g0113 a0001c0001t0018g0046 a0001c0001t0018g0131 a0001c0001t0021g0227 a0001c0001t0023g0183 a0001c0001t0034g0068 a0001c0001t0037g0065 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0045g0190 a0001c0001t0051g0035 a0001c0001t0054g0087 a0002c0002t0030g0212 a0003c0003t0020g0199 a0006c0010t0031g0204	61	252	0.2421	-11	c.578 others(26): Show c.578+568_578+578delTATACATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	252	0.0040	-11	c.356 others(30): Show c.356-57283_356-57273delTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109487068	TGCCAGCT others(4): Show TGCCAGCTCTCA	T T	frameshift_variant frameshift_variant	HIGH	NA19062.hp2 NA19062.hp2	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0001 a0008c0003t0001	a0008c0003t0001g0002 a0008c0003t0001g0002	1	332	0.0030	-11	c.362 others(18): Show c.362_372delCCAGCTCTCAG	p.Ala others(5): Show p.Ala121fs	ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding	4/11	411/2448	362/2265	121/754		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01071.hp1 others(70): Show HG00423.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA18991.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19074.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 others(22): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0023 a0001c0002t0028 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0066 a0001c0002t0067 a0001c0002t0070 a0001c0002t0080 a0001c0004t0033	a0001c0002t0004g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 others(22): Show a0001c0002t0004g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 a0001c0002t0010g0000 a0001c0002t0014g0000 a0001c0002t0018g0000 a0001c0002t0019g0000 a0001c0002t0021g0000 a0001c0002t0023g0000 a0001c0002t0028g0000 a0001c0002t0034g0000 a0001c0002t0035g0000 a0001c0002t0036g0000 a0001c0002t0037g0000 a0001c0002t0038g0000 a0001c0002t0039g0000 a0001c0002t0040g0000 a0001c0002t0041g0000 a0001c0002t0042g0000 a0001c0002t0043g0000 a0001c0002t0066g0000 a0001c0002t0067g0000 a0001c0002t0070g0000 a0001c0002t0080g0000 a0001c0004t0033g0000	73	408	0.1789	-11	c.-14 others(22): Show c.-1442_-1432delTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG06807.hp1 HG01243.hp1 HG03486.hp2 HG06807.hp1	a0002 a0021 a0002 a0021	a0002c0002 a0021c0035 a0002c0002 a0021c0035	a0002c0002t0047 a0002c0002t0051 a0021c0035t0052 a0002c0002t0047 a0002c0002t0051 a0021c0035t0052	a0002c0002t0047g0013 a0002c0002t0051g0015 a0021c0035t0052g0014 a0002c0002t0047g0013 a0002c0002t0051g0015 a0021c0035t0052g0014	3	300	0.0100	-11	c.499 others(26): Show c.499+373_499+383delTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	64003205	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0269 a0002c0002t0039g0269	1	300	0.0033	-11	c.37 others(22): Show c.3752_*3762delTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	13/13				3752	INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91249292	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0291 a0001c0006t0001g0291	1	358	0.0028	-11	c.656 others(30): Show c.656-28311_656-28301delTTTTTTTTTTT		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	6/9						chr9	TogoVar

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