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
ATRX_chrX_77499880_77791216	77671165	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	218	0.0046	12	c.380 others(31): Show c.3809+5060_3809+5061insATATATATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01496.hp1 NA18959.hp1 others(4): Show HG00597.hp2 HG01496.hp1 NA18959.hp1 NA18967.hp1 NA18982.hp1 NA19000.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001	a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 others(4): Show a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0002g0051 a0002c0002t0002g0208 a0002c0002t0003g0025 a0002c0004t0001g0023	7	218	0.0321	12	c.380 others(31): Show c.3809+5058_3809+5059insATATATATTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02145.hp1 NA18990.hp1 others(2): Show HG02132.hp1 HG02145.hp1 NA18990.hp1 NA19058.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0015	a0002c0002t0001g0011 a0002c0002t0001g0050 a0002c0002t0002g0007 others(2): Show a0002c0002t0001g0011 a0002c0002t0001g0050 a0002c0002t0002g0007 a0002c0002t0006g0207 a0002c0002t0015g0043	5	218	0.0229	12	c.380 others(31): Show c.3809+5058_3809+5059insATATATATATTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77735598	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18947.hp2 NA20752.hp1 HG03239.hp1 NA18947.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0123 a0002c0002t0001g0209 a0002c0002t0002g0048 a0001c0001t0002g0123 a0002c0002t0001g0209 a0002c0002t0002g0048	3	218	0.0138	12	c.21- others(29): Show c.21-18367_21-18356dupTTTATTTATTTA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77759592	T T	TAATCGCA others(5): Show TAATCGCAGCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0010 a0005c0009t0010	a0005c0009t0010g0086 a0005c0009t0010g0086	1	218	0.0046	12	c.20+ others(29): Show c.20+26378_20+26389dupGCAGCTGCGATT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00673.hp1 others(16): Show HG00558.hp2 HG00597.hp1 HG00673.hp1 HG02040.hp1 HG02080.hp2 HG02683.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18973.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp2 NA19011.hp2 NA19063.hp1 NA19080.hp2 NA19085.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0011 a0001c0001 a0001c0013 a0004c0011	a0001c0001t0002 a0001c0001t0004 a0001c0013t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0013t0002 a0004c0011t0002	a0001c0001t0002g0071 a0001c0001t0002g0107 a0001c0001t0002g0118 others(16): Show a0001c0001t0002g0071 a0001c0001t0002g0107 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0215 a0001c0001t0004g0122 a0001c0013t0002g0212 a0004c0011t0002g0093	19	218	0.0872	12	c.-49 others(23): Show c.-4934_-4933insTATATATATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4719		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(5): Show CTATAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18961.hp1 NA18995.hp1 others(2): Show HG04204.hp1 NA18961.hp1 NA18995.hp1 NA19011.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003	a0001c0001t0004g0218 a0002c0002t0001g0017 a0002c0002t0001g0029 others(2): Show a0001c0001t0004g0218 a0002c0002t0001g0017 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0003g0019	5	218	0.0229	12	c.-49 others(23): Show c.-4990_-4989insTATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02559.hp1 HG03209.hp2 others(1): Show HG00642.hp2 HG02559.hp1 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 others(1): Show a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014	4	322	0.0124	12	c.765 others(31): Show c.7656-1216_7656-1205dupAAAAAAAAAAAA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02109.hp1 others(6): Show HG01243.hp1 HG01496.hp2 HG02109.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0008 a0004c0009 a0001c0004 a0001c0008 a0004c0009	a0001c0004t0001 a0001c0008t0001 a0004c0009t0001 a0001c0004t0001 a0001c0008t0001 a0004c0009t0001	a0001c0004t0001g0147 a0001c0004t0001g0159 a0001c0004t0001g0162 others(6): Show a0001c0004t0001g0147 a0001c0004t0001g0159 a0001c0004t0001g0162 a0001c0004t0001g0205 a0001c0004t0001g0312 a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 a0004c0009t0001g0151	9	322	0.0280	12	c.622 others(31): Show c.6222-1914_6222-1903dupCACACACACACA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(5): Show CATTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0016 a0001c0006t0001g0016	1	322	0.0031	12	c.589 others(27): Show c.5898+82_5898+83insTATATATATAAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18970.hp2 NA18964.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0275 a0002c0002t0001g0225 a0002c0002t0001g0275	2	322	0.0062	12	c.589 others(27): Show c.5898+71_5898+82dupTATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02717.hp2 HG02723.hp1 HG01175.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0155 a0001c0004t0001g0204 a0001c0004t0002g0003 a0001c0004t0001g0155 a0001c0004t0001g0204 a0001c0004t0002g0003	3	322	0.0093	12	c.438 others(31): Show c.4383-1481_4383-1470dupATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	322	0.0031	12	c.394 others(31): Show c.3946-4667_3946-4656dupATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18960.hp2 HG02109.hp1 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0001 a0003c0003t0001 a0001c0008t0001 a0003c0003t0001	a0001c0008t0001g0198 a0003c0003t0001g0182 a0001c0008t0001g0198 a0003c0003t0001g0182	2	322	0.0062	12	c.394 others(31): Show c.3946-4681_3946-4680insAATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02280.hp1 HG02135.hp2 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0206 a0003c0003t0001g0178 a0001c0004t0001g0206 a0003c0003t0001g0178	2	322	0.0062	12	c.394 others(31): Show c.3946-4681_3946-4680insAAAATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0149 a0001c0004t0001g0149	1	322	0.0031	12	c.394 others(31): Show c.3946-4681_3946-4680insAAAAAAAAAATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00735.hp1 others(22): Show HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01943.hp2 HG02723.hp2 HG02896.hp1 HG03041.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18973.hp1 NA18984.hp2 NA18998.hp2 NA19006.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143	25	322	0.0776	12	c.335 others(31): Show c.3358-1707_3358-1696dupTTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142558557	A A	AATAAATA others(5): Show AATAAATAGATAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	322	0.0031	12	c.188 others(27): Show c.1885+66_1885+67insCTATCTATTTAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	8/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(5): Show ATATCTATCTACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	316	0.0032	12	c.729 others(29): Show c.729-2084_729-2083insCCTATCTATCTA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(5): Show ATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02135.hp1 HG02897.hp1 others(12): Show HG00140.hp2 HG02135.hp1 HG02897.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp1 NA18967.hp2 NA18993.hp1 NA19002.hp1 NA19004.hp2 NA19056.hp1 NA19062.hp1 NA19076.hp2 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0026 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0269 a0001c0001t0002g0105 a0001c0001t0004g0225 a0001c0001t0005g0292 a0001c0001t0007g0204 a0001c0001t0008g0302	15	316	0.0475	12	c.729 others(29): Show c.729-2060_729-2049dupATCTATCTATCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTATT others(5): Show ATATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 HG02055.hp2 others(34): Show HG00408.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18949.hp1 NA18964.hp1 NA18967.hp1 NA19043.hp1 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(34): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0129 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0316 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0005g0070 a0001c0001t0005g0293 a0001c0001t0009g0133 a0001c0001t0011g0135 a0001c0001t0012g0080	37	316	0.1171	12	c.895 others(29): Show c.895-3842_895-3831dupATTATTATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740719	C C	CACACACA others(5): Show CACACACATACAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0080 a0001c0001t0012g0080	1	316	0.0032	12	c.117 others(29): Show c.1173+182_1173+183insCACACATACATA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	316	0.0032	12	c.117 others(33): Show c.1173+11227_1173+11228insAAAAAAAAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAATA others(5): Show AAAAAATAATAAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	316	0.0032	12	c.117 others(33): Show c.1173+11227_1173+11228insAAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45752565	T T	TTGGGGCT others(5): Show TTGGGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02895.hp2 others(2): Show HG02109.hp2 HG02809.hp1 HG02895.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0266	5	316	0.0158	12	c.117 others(33): Show c.1173+12048_1173+12059dupGGGCTGGGGCTG		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	316	0.0032	12	c.117 others(33): Show c.1173+12876_1173+12887dupTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16299628	A A	ACGATTGG others(5): Show ACGATTGGAAGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01257.hp1 others(23): Show HG00609.hp2 HG01070.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG02056.hp2 HG02135.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 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0019 a0027 a0031	a0001c0001 a0002c0002 a0002c0004 others(8): Show a0001c0001 a0002c0002 a0002c0004 a0004c0005 a0005c0006 a0006c0008 a0007c0009 a0011c0007 a0019c0026 a0027c0049 a0031c0048	a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 others(11): Show a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 a0002c0002t0041 a0002c0002t0043 a0002c0004t0017 a0004c0005t0008 a0005c0006t0003 a0006c0008t0040 a0007c0009t0049 a0011c0007t0003 a0019c0026t0019 a0027c0049t0003 a0031c0048t0042	a0001c0001t0044g0118 a0002c0002t0003g0007 a0002c0002t0003g0061 others(23): Show a0001c0001t0044g0118 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0017g0121 a0002c0004t0017g0179 a0004c0005t0008g0068 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0006c0008t0040g0154 a0007c0009t0049g0005 a0011c0007t0003g0066 a0019c0026t0019g0001 a0027c0049t0003g0149 a0031c0048t0042g0026	26	182	0.1429	12	c.67 others(23): Show c.6700_*6701insAACTTCCAATCG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	8/8				6700		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02523.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG02523.hp1 HG03453.hp2 NA18952.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0001 a0002c0004t0017 a0004c0005t0002 a0002c0004t0001 a0002c0004t0017 a0004c0005t0002	a0002c0004t0001g0080 a0002c0004t0001g0182 a0002c0004t0017g0121 others(2): Show a0002c0004t0001g0080 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0004c0005t0002g0167	5	182	0.0275	12	c.191 others(31): Show c.1918-1475_1918-1464dupTGTGTGTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG03041.hp2 others(2): Show HG02055.hp1 HG02895.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2	a0001 a0024 a0034 others(1): Show a0001 a0024 a0034 a0037	a0001c0001 a0001c0052 a0024c0018 others(2): Show a0001c0001 a0001c0052 a0024c0018 a0034c0047 a0037c0032	a0001c0001t0002 a0001c0052t0047 a0024c0018t0001 others(2): Show a0001c0001t0002 a0001c0052t0047 a0024c0018t0001 a0034c0047t0002 a0037c0032t0002	a0001c0001t0002g0077 a0001c0052t0047g0060 a0024c0018t0001g0009 others(2): Show a0001c0001t0002g0077 a0001c0052t0047g0060 a0024c0018t0001g0009 a0034c0047t0002g0029 a0037c0032t0002g0170	5	182	0.0275	12	c.191 others(31): Show c.1917+9517_1917+9528dupAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(5): Show ATGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp2 HG02451.hp1 HG02735.hp1 others(5): Show HG02135.hp2 HG02451.hp1 HG02735.hp1 NA18944.hp1 NA18946.hp1 NA18973.hp1 NA19009.hp2 NA19030.hp1	a0011 a0022 a0011 a0022	a0011c0007 a0022c0019 a0011c0007 a0022c0019	a0011c0007t0002 a0011c0007t0003 a0022c0019t0001 a0011c0007t0002 a0011c0007t0003 a0022c0019t0001	a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 others(5): Show a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0022c0019t0001g0025 a0022c0019t0001g0127	8	182	0.0440	12	c.615 others(19): Show c.615_626dupGCAGCAGCAGCA	p.Gln others(13): Show p.Gln205_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0013 a0006c0008t0002g0013	1	182	0.0055	12	c.-16 others(33): Show c.-160-66812_-160-66801dupTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0001 a0024c0018t0001	a0024c0018t0001g0009 a0024c0018t0001g0009	1	182	0.0055	12	c.-16 others(33): Show c.-161+31835_-161+31846dupTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp2 HG04184.hp1 HG01361.hp2 HG03516.hp2 HG04184.hp1	a0002 a0003 a0017 a0002 a0003 a0017	a0002c0002 a0003c0003 a0017c0022 a0002c0002 a0003c0003 a0017c0022	a0002c0002t0003 a0003c0003t0001 a0017c0022t0001 a0002c0002t0003 a0003c0003t0001 a0017c0022t0001	a0002c0002t0003g0133 a0003c0003t0001g0130 a0017c0022t0001g0104 a0002c0002t0003g0133 a0003c0003t0001g0130 a0017c0022t0001g0104	3	182	0.0165	12	c.-16 others(29): Show c.-161+980_-161+981insTACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16491258	A A	AATTATTA others(5): Show AATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0072 a0004c0005t0002g0072	1	182	0.0055	12	c.-29 others(31): Show c.-298-5161_-298-5150dupAATAATAATAAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0004 a0012c0011t0004	a0012c0011t0004g0050 a0012c0011t0004g0050	1	182	0.0055	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTGTGTATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG02155.hp2 others(13): Show HG00408.hp2 HG01074.hp2 HG02155.hp2 HG02523.hp2 HG03688.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp1 NA18952.hp1 NA18973.hp1 NA18993.hp1 NA18993.hp2 NA19007.hp2 NA19060.hp2 NA19062.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0008 a0011 a0014 a0021 a0023	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0004c0005 a0008c0012 a0011c0007 a0014c0017 a0021c0021 a0023c0035	a0001c0001t0001 a0001c0001t0005 a0002c0002t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0007 a0002c0002t0041 a0002c0004t0001 a0004c0005t0002 a0004c0005t0008 a0008c0012t0005 a0011c0007t0002 a0014c0017t0004 a0021c0021t0004 a0023c0035t0001	a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0178 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0005g0085 a0002c0002t0007g0136 a0002c0002t0041g0079 a0002c0004t0001g0073 a0004c0005t0002g0075 a0004c0005t0002g0167 a0004c0005t0008g0068 a0008c0012t0005g0092 a0011c0007t0002g0097 a0011c0007t0002g0169 a0014c0017t0004g0171 a0021c0021t0004g0069 a0023c0035t0001g0064	16	182	0.0879	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTGTATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0166 a0005c0006t0003g0166	1	182	0.0055	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01070.hp1 others(5): Show HG00408.hp2 HG00597.hp2 HG01070.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG02300.hp2 NA18612.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0012 a0019	a0002c0002 a0002c0004 a0003c0003 others(3): Show a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0012c0011 a0019c0026	a0002c0002t0008 a0002c0004t0001 a0002c0004t0017 others(5): Show a0002c0002t0008 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0022 a0004c0005t0002 a0012c0011t0004 a0019c0026t0019	a0002c0002t0008g0138 a0002c0004t0001g0073 a0002c0004t0017g0121 others(5): Show a0002c0002t0008g0138 a0002c0004t0001g0073 a0002c0004t0017g0121 a0003c0003t0001g0042 a0003c0003t0022g0119 a0004c0005t0002g0122 a0012c0011t0004g0144 a0019c0026t0019g0001	8	182	0.0440	12	c.-36 others(31): Show c.-361+1545_-361+1556dupATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0008 a0010c0010t0006g0008	1	182	0.0055	12	c.-48 others(29): Show c.-488-137_-488-136insTGTGTGTGTGCG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0033 a0009c0025t0033	a0009c0025t0033g0165 a0009c0025t0033g0165	1	182	0.0055	12	c.-48 others(33): Show c.-488-20972_-488-20961dupCACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16674049	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02886.hp2 HG00438.hp1 HG02886.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0015 a0002c0002 a0004c0015	a0002c0002t0003 a0004c0015t0001 a0002c0002t0003 a0004c0015t0001	a0002c0002t0003g0007 a0004c0015t0001g0157 a0002c0002t0003g0007 a0004c0015t0001g0157	2	182	0.0110	12	c.-61 others(33): Show c.-614-16149_-614-16148insTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16679276	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG01496.hp2 HG02723.hp1	a0009 a0012 a0009 a0012	a0009c0025 a0012c0011 a0009c0025 a0012c0011	a0009c0025t0033 a0012c0011t0004 a0009c0025t0033 a0012c0011t0004	a0009c0025t0033g0165 a0012c0011t0004g0144 a0009c0025t0033g0165 a0012c0011t0004g0144	2	182	0.0110	12	c.-61 others(33): Show c.-614-21387_-614-21376dupTCCATCCATCCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp1 others(72): Show HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0017 a0018 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0034	a0001c0001 a0001c0027 a0001c0028 others(41): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0041 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0006c0046 a0007c0009 a0007c0059 a0008c0012 a0009c0016 a0009c0025 a0009c0042 a0010c0010 a0010c0039 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0016c0014 a0017c0022 a0017c0040 a0018c0056 a0022c0019 a0023c0035 a0024c0018 a0025c0062 a0026c0061 a0027c0049 a0029c0057 a0030c0058 a0031c0048 a0032c0045 a0034c0047	a0001c0001t0001 a0001c0001t0020 a0001c0001t0030 others(59): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0030 a0001c0027t0001 a0001c0028t0015 a0001c0029t0048 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0041 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0009 a0003c0003t0037 a0004c0005t0002 a0004c0015t0001 a0004c0023t0009 a0004c0041t0001 a0005c0006t0003 a0005c0006t0009 a0005c0060t0006 a0006c0008t0010 a0006c0008t0011 a0006c0008t0046 a0006c0043t0010 a0006c0046t0001 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0009c0016t0028 a0009c0025t0031 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0010c0039t0001 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0014c0017t0004 a0016c0014t0012 a0017c0022t0001 a0017c0040t0007 a0018c0056t0007 a0022c0019t0001 a0023c0035t0001 a0024c0018t0001 a0024c0018t0012 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0029c0057t0001 a0030c0058t0018 a0031c0048t0042 a0032c0045t0018 a0034c0047t0002	a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0158 others(72): Show a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0020g0002 a0001c0001t0030g0021 a0001c0027t0001g0024 a0001c0028t0015g0125 a0001c0029t0048g0031 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0003g0061 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0004t0001g0046 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0017g0179 a0003c0003t0001g0039 a0003c0003t0009g0055 a0003c0003t0037g0150 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0015t0001g0176 a0004c0023t0009g0110 a0004c0041t0001g0156 a0005c0006t0003g0006 a0005c0006t0003g0166 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0008t0046g0062 a0006c0043t0010g0128 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0091 a0008c0012t0005g0168 a0009c0016t0028g0141 a0009c0025t0031g0058 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0112 a0010c0039t0001g0181 a0012c0011t0004g0086 a0013c0013t0005g0100 a0013c0013t0016g0153 a0013c0038t0034g0139 a0014c0017t0004g0044 a0016c0014t0012g0135 a0017c0022t0001g0104 a0017c0040t0007g0022 a0018c0056t0007g0011 a0022c0019t0001g0025 a0022c0019t0001g0127 a0023c0035t0001g0064 a0024c0018t0001g0009 a0024c0018t0012g0148 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0029c0057t0001g0016 a0030c0058t0018g0054 a0031c0048t0042g0026 a0032c0045t0018g0059 a0034c0047t0002g0029	75	182	0.4121	12	c.-61 others(33): Show c.-614-24303_-614-24302insAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01261.hp1 others(14): Show HG00408.hp2 HG00423.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0012 a0013 a0014 a0020 a0034 a0036	a0001c0001 a0001c0027 a0002c0002 others(11): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0005c0060 a0012c0011 a0013c0013 a0014c0017 a0020c0020 a0034c0047 a0036c0037	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0027t0001 a0002c0002t0008 a0002c0004t0001 a0003c0003t0009 a0004c0005t0002 a0004c0015t0001 a0005c0060t0006 a0012c0011t0004 a0013c0013t0005 a0014c0017t0025 a0020c0020t0032 a0034c0047t0002 a0036c0037t0001	a0001c0001t0001g0105 a0001c0001t0005g0085 a0001c0001t0029g0145 others(14): Show a0001c0001t0001g0105 a0001c0001t0005g0085 a0001c0001t0029g0145 a0001c0027t0001g0107 a0002c0002t0008g0081 a0002c0004t0001g0073 a0002c0004t0001g0182 a0003c0003t0009g0055 a0004c0005t0002g0160 a0004c0015t0001g0152 a0005c0060t0006g0132 a0012c0011t0004g0144 a0013c0013t0005g0036 a0014c0017t0025g0142 a0020c0020t0032g0099 a0034c0047t0002g0029 a0036c0037t0001g0117	17	182	0.0934	12	c.-61 others(33): Show c.-614-29768_-614-29757dupGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0010 a0005c0006t0006g0010	1	182	0.0055	12	c.-61 others(33): Show c.-615+22749_-615+22750insTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0026 a0020c0020t0026	a0020c0020t0026g0088 a0020c0020t0026g0088	1	182	0.0055	12	c.-61 others(33): Show c.-615+22734_-615+22745dupTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATGTAT others(5): Show GTATGTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0031 a0031	a0031c0048 a0031c0048	a0031c0048t0042 a0031c0048t0042	a0031c0048t0042g0026 a0031c0048t0042g0026	1	182	0.0055	12	c.-61 others(33): Show c.-615+22745_-615+22746insTATATATACATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16745933	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0012 a0024c0018t0012	a0024c0018t0012g0148 a0024c0018t0012g0148	1	182	0.0055	12	c.-61 others(31): Show c.-615+7288_-615+7299dupACACACACACAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16761557	G G	GCCCTCCC others(5): Show GCCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0092 a0008c0012t0005g0092	1	182	0.0055	12	c.-99 others(21): Show c.-990_-989insAGGGAGGGAGGG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding					98		chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(5): Show GCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG03942.hp2 HG02040.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0025 a0001c0020t0001g0006 a0001c0001t0001g0025 a0001c0020t0001g0006	2	382	0.0052	12	c.-32 others(21): Show c.-325_-324insCCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar

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