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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Select column to sort.

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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	chr	external
ATXN2L_chr16_28817999_28842232	28841644	T T	TGTCA TGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02145.hp1 others(3): Show HG01891.hp1 HG02109.hp1 HG02145.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0100 a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0100	6	382	0.0157	4	c.53 others(15): Show c.5379_*5380insGTCA	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding		4413	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111461888	C C	CTCCA CTCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show HG02055.hp1 HG02486.hp1 HG03209.hp1 HG03453.hp1 NA20300.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0005 a0003c0004t0003 a0003c0004t0005	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(2): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0005g0091	5	298	0.0168	4	c.289 others(23): Show c.2896+2770_2896+2773dupTGGA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111462975	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG02056.hp2 others(20): Show HG00597.hp2 HG01081.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02165.hp2 HG02622.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19066.hp2 NA19084.hp1	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0003c0006 a0020c0025	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0012t0001 a0003c0006t0001 a0020c0025t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0138 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0171 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0189 a0001c0003t0001g0197 a0001c0003t0003g0154 a0001c0012t0001g0153 a0001c0012t0001g0188 a0003c0006t0001g0212 a0020c0025t0001g0121	23	298	0.0772	4	c.289 others(23): Show c.2896+1686_2896+1687insGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464247	G G	GGTGT GGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp2 others(26): Show HG00408.hp2 HG00597.hp2 HG00642.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02965.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18969.hp2 NA18973.hp2 NA18982.hp2 NA19043.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0014 a0018	a0001c0001 a0001c0003 a0001c0012 others(9): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0003c0004 a0003c0005 a0003c0006 a0003c0011 a0003c0014 a0008c0023 a0014c0020 a0018c0028	a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 others(12): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0003 a0003c0005t0001 a0003c0006t0001 a0003c0006t0003 a0003c0011t0001 a0003c0014t0003 a0008c0023t0003 a0014c0020t0003 a0018c0028t0005	a0001c0001t0002g0281 a0001c0003t0001g0131 a0001c0003t0001g0132 others(26): Show a0001c0001t0002g0281 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0139 a0001c0003t0001g0149 a0001c0003t0001g0163 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0003g0152 a0001c0012t0001g0188 a0002c0002t0001g0020 a0002c0002t0001g0028 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0050 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0003g0075 a0003c0004t0003g0093 a0003c0004t0003g0111 a0003c0005t0001g0206 a0003c0006t0001g0214 a0003c0006t0003g0213 a0003c0011t0001g0122 a0003c0014t0003g0003 a0008c0023t0003g0119 a0014c0020t0003g0085 a0018c0028t0005g0208	29	298	0.0973	4	c.289 others(21): Show c.2896+411_2896+414dupACAC	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464335	T T	TTGTG TTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp1 HG02735.hp1 others(22): Show HG00597.hp1 HG02135.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03492.hp1 HG03704.hp2 HG04115.hp1 NA18943.hp1 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp2 NA18992.hp2 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19091.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0008t0007 a0002c0002t0001	a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0236 others(22): Show a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0276 a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0239 a0001c0001t0004g0245 a0001c0001t0004g0283 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 a0001c0001t0006g0279 a0001c0008t0007g0145 a0001c0008t0007g0146 a0001c0008t0007g0184 a0002c0002t0001g0036 a0002c0002t0001g0047	25	298	0.0839	4	c.289 others(21): Show c.2896+323_2896+326dupCACA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111467307	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02055.hp1 HG02055.hp2 others(10): Show HG01169.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2	a0003 a0008 a0014 a0003 a0008 a0014	a0003c0004 a0003c0006 a0003c0007 others(2): Show a0003c0004 a0003c0006 a0003c0007 a0008c0023 a0014c0020	a0003c0004t0003 a0003c0004t0005 a0003c0006t0001 others(3): Show a0003c0004t0003 a0003c0004t0005 a0003c0006t0001 a0003c0007t0005 a0008c0023t0003 a0014c0020t0003	a0003c0004t0003g0089 a0003c0004t0003g0093 a0003c0004t0003g0095 others(10): Show a0003c0004t0003g0089 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0102 a0003c0004t0003g0104 a0003c0004t0003g0106 a0003c0004t0005g0091 a0003c0006t0001g0212 a0003c0007t0005g0116 a0008c0023t0003g0119 a0014c0020t0003g0085	13	298	0.0436	4	c.284 others(23): Show c.2843-2596_2843-2593dupAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111468696	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp2 others(65): Show HG00408.hp2 HG00597.hp2 HG00642.hp2 HG01081.hp1 HG01361.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp2 HG02683.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp2 HG04204.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp1 NA19000.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0015 a0016 a0018 a0020	a0001c0001 a0001c0003 a0001c0012 others(11): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0003c0004 a0003c0005 a0003c0006 a0003c0011 a0004c0013 a0008c0023 a0015c0030 a0016c0029 a0018c0028 a0020c0025	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0003t0003 a0001c0012t0001 a0002c0002t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0005t0001 a0003c0006t0001 a0003c0011t0001 a0004c0013t0001 a0008c0023t0003 a0015c0030t0001 a0016c0029t0001 a0018c0028t0005 a0020c0025t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0006g0257 others(65): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0006g0257 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0193 a0001c0003t0001g0197 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0190 a0001c0012t0001g0153 a0001c0012t0001g0188 a0002c0002t0001g0077 a0003c0004t0003g0095 a0003c0004t0003g0110 a0003c0004t0005g0086 a0003c0004t0008g0215 a0003c0005t0001g0204 a0003c0005t0001g0205 a0003c0005t0001g0206 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0006t0001g0214 a0003c0011t0001g0122 a0004c0013t0001g0199 a0008c0023t0003g0119 a0015c0030t0001g0210 a0016c0029t0001g0209 a0018c0028t0005g0208 a0020c0025t0001g0121	68	298	0.2282	4	c.284 others(23): Show c.2842+1408_2842+1411dupAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483188	A A	AACAC AACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18946.hp2 NA19009.hp1 HG02886.hp1 NA18946.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0003c0006 a0001c0003 a0003c0004 a0003c0006	a0001c0003t0001 a0003c0004t0003 a0003c0006t0001 a0001c0003t0001 a0003c0004t0003 a0003c0006t0001	a0001c0003t0001g0137 a0003c0004t0003g0103 a0003c0006t0001g0212 a0001c0003t0001g0137 a0003c0004t0003g0103 a0003c0006t0001g0212	3	298	0.0101	4	c.252 others(23): Show c.2524+2073_2524+2076dupGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483194	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02965.hp1 HG03492.hp1 others(4): Show HG02056.hp1 HG02965.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 NA18994.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0261 others(4): Show a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0261 a0001c0001t0002g0278 a0001c0001t0004g0227 a0001c0001t0006g0235 a0001c0001t0006g0265	7	298	0.0235	4	c.252 others(23): Show c.2524+2067_2524+2070dupGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483410	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(26): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA18942.hp1 NA18982.hp1 NA18992.hp1 NA19240.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0008 a0012 a0013 a0014 a0019	a0001c0003 a0003c0004 a0003c0005 others(10): Show a0001c0003 a0003c0004 a0003c0005 a0003c0006 a0003c0007 a0003c0014 a0004c0013 a0006c0010 a0008c0023 a0012c0022 a0013c0021 a0014c0020 a0019c0027	a0001c0003t0001 a0001c0003t0003 a0003c0004t0003 others(11): Show a0001c0003t0001 a0001c0003t0003 a0003c0004t0003 a0003c0005t0001 a0003c0006t0003 a0003c0007t0003 a0003c0014t0003 a0004c0013t0001 a0006c0010t0003 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0019c0027t0003	a0001c0003t0001g0124 a0001c0003t0001g0171 a0001c0003t0003g0154 others(26): Show a0001c0003t0001g0124 a0001c0003t0001g0171 a0001c0003t0003g0154 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0005t0001g0205 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0014t0003g0003 a0004c0013t0001g0199 a0006c0010t0003g0112 a0006c0010t0003g0113 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0019c0027t0003g0207	29	298	0.0973	4	c.252 others(23): Show c.2524+1851_2524+1854dupTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111535115	G G	GACCC GACCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03225.hp1 HG02622.hp2 HG02897.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0003g0009	3	298	0.0101	4	c.572 others(21): Show c.572-9803_572-9800dupGGGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	5/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111535999	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp1 HG02486.hp1 others(3): Show HG01943.hp2 HG02055.hp1 HG02486.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1	a0003 a0019 a0003 a0019	a0003c0004 a0003c0007 a0019c0027 a0003c0004 a0003c0007 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 others(1): Show a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0092 others(3): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0092 a0003c0004t0005g0091 a0003c0007t0003g0114 a0019c0027t0003g0207	6	298	0.0201	4	c.572 others(23): Show c.572-10687_572-10684dupTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	5/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111540153	A A	AAACT AAACT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0008 a0012 a0013 a0014 a0018 a0019	a0003c0004 a0003c0006 a0003c0007 others(9): Show a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0008c0023 a0012c0022 a0013c0021 a0014c0020 a0018c0028 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(12): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0018c0028t0005 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(38): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0018c0028t0005g0208 a0019c0027t0003g0207	41	298	0.1376	4	c.571 others(23): Show c.571+12126_571+12127insAGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	5/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553601	A A	ATTTT ATTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 NA19074.hp1 HG02145.hp2 HG02622.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0076 a0002c0002t0001g0005 a0002c0002t0001g0021 a0002c0002t0001g0076	3	298	0.0101	4	c.348 others(19): Show c.348+556_348+557insAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553602	A A	ATTTT ATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02109.hp1 HG02132.hp1 others(27): Show HG00099.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp2 HG02717.hp2 HG02738.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03654.hp2 NA18612.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18964.hp1 NA18969.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA20752.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0016	a0001c0003 a0001c0008 a0001c0026 others(3): Show a0001c0003 a0001c0008 a0001c0026 a0003c0006 a0015c0030 a0016c0029	a0001c0003t0001 a0001c0008t0007 a0001c0026t0001 others(3): Show a0001c0003t0001 a0001c0008t0007 a0001c0026t0001 a0003c0006t0001 a0015c0030t0001 a0016c0029t0001	a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 others(27): Show a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0151 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0181 a0001c0003t0001g0187 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0008t0007g0145 a0001c0008t0007g0184 a0001c0026t0001g0160 a0003c0006t0001g0214 a0015c0030t0001g0210 a0016c0029t0001g0209	30	298	0.1007	4	c.348 others(19): Show c.348+555_348+556insAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACA TAACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02280.hp1 others(8): Show HG01243.hp2 HG01884.hp1 HG02280.hp1 HG02717.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03540.hp1 NA19030.hp2 NA21309.hp1	a0003 a0006 a0007 others(3): Show a0003 a0006 a0007 a0012 a0014 a0018	a0003c0004 a0003c0007 a0006c0010 others(4): Show a0003c0004 a0003c0007 a0006c0010 a0007c0015 a0012c0022 a0014c0020 a0018c0028	a0003c0004t0005 a0003c0004t0008 a0003c0007t0003 others(6): Show a0003c0004t0005 a0003c0004t0008 a0003c0007t0003 a0003c0007t0005 a0006c0010t0003 a0007c0015t0005 a0012c0022t0003 a0014c0020t0003 a0018c0028t0005	a0003c0004t0005g0086 a0003c0004t0005g0109 a0003c0004t0008g0215 others(8): Show a0003c0004t0005g0086 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0006c0010t0003g0113 a0007c0015t0005g0004 a0012c0022t0003g0118 a0014c0020t0003g0085 a0018c0028t0005g0208	11	298	0.0369	4	c.252 others(23): Show c.252-20217_252-20214dupTGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111584377	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01928.hp2 HG01993.hp2 others(22): Show HG01123.hp2 HG01928.hp2 HG01993.hp2 HG02630.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp1 NA18941.hp2 NA18948.hp1 NA18952.hp2 NA18974.hp1 NA18979.hp1 NA18984.hp1 NA18992.hp2 NA18994.hp1 NA19004.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0002 a0001c0001t0004 a0010c0018t0002 a0001c0001t0002 a0001c0001t0004 a0010c0018t0002	a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 others(22): Show a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0281 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0004g0226 a0001c0001t0004g0240 a0001c0001t0004g0283 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0010c0018t0002g0244	25	298	0.0839	4	c.251 others(23): Show c.251+14403_251+14406dupTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588188	A A	AAAAT AAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show HG00544.hp2 HG00597.hp1 HG01071.hp1 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0009 a0017	a0001c0001 a0002c0002 a0002c0016 others(6): Show a0001c0001 a0002c0002 a0002c0016 a0003c0004 a0003c0007 a0005c0009 a0007c0015 a0009c0017 a0017c0024	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 others(8): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0016t0001 a0003c0004t0003 a0003c0004t0005 a0003c0007t0003 a0005c0009t0001 a0007c0015t0005 a0009c0017t0001 a0017c0024t0001	a0001c0001t0002g0225 a0001c0001t0002g0241 a0001c0001t0002g0281 others(81): Show a0001c0001t0002g0225 a0001c0001t0002g0241 a0001c0001t0002g0281 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0075 a0002c0016t0001g0057 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0005g0087 a0003c0007t0003g0117 a0005c0009t0001g0001 a0005c0009t0001g0002 a0007c0015t0005g0004 a0009c0017t0001g0083 a0017c0024t0001g0120	84	298	0.2819	4	c.251 others(23): Show c.251+10592_251+10595dupATTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp2 HG01361.hp1 others(21): Show HG01081.hp2 HG01258.hp2 HG01361.hp1 HG02056.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02572.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp1 NA18942.hp2 NA18955.hp1 NA18984.hp1 NA18992.hp2 NA19007.hp1 NA19011.hp2 NA19065.hp2 NA19079.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003 a0003c0005t0003	a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0225 others(21): Show a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0278 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0004g0216 a0001c0001t0004g0227 a0001c0001t0004g0247 a0001c0001t0004g0283 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0006g0232 a0001c0001t0006g0257 a0001c0003t0003g0173 a0003c0005t0003g0202	24	298	0.0805	4	c.251 others(21): Show c.251+9789_251+9792dupTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596205	A A	AACAC AACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01167.hp1 others(42): Show HG00099.hp1 HG01081.hp1 HG01167.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01952.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02683.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp2 HG03492.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA19000.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19070.hp1 NA19083.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0020	a0001c0003 a0001c0008 a0001c0012 others(5): Show a0001c0003 a0001c0008 a0001c0012 a0001c0026 a0002c0002 a0003c0005 a0015c0030 a0020c0025	a0001c0003t0001 a0001c0003t0003 a0001c0008t0007 others(6): Show a0001c0003t0001 a0001c0003t0003 a0001c0008t0007 a0001c0012t0001 a0001c0026t0001 a0002c0002t0001 a0003c0005t0001 a0015c0030t0001 a0020c0025t0001	a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 others(42): Show a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0197 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0008t0007g0145 a0001c0008t0007g0146 a0001c0012t0001g0153 a0001c0026t0001g0160 a0002c0002t0001g0006 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0003c0005t0001g0203 a0003c0005t0001g0204 a0003c0005t0001g0205 a0015c0030t0001g0210 a0020c0025t0001g0121	45	298	0.1510	4	c.251 others(21): Show c.251+2575_251+2578dupGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596373	T T	TCACA TCACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(43): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA18952.hp2 NA18984.hp2 NA18992.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0012 a0013 a0014 a0018 a0019	a0001c0001 a0002c0002 a0003c0004 others(11): Show a0001c0001 a0002c0002 a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0008c0023 a0012c0022 a0013c0021 a0014c0020 a0018c0028 a0019c0027	a0001c0001t0004 a0002c0002t0001 a0003c0004t0003 others(14): Show a0001c0001t0004 a0002c0002t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0018c0028t0005 a0019c0027t0003	a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 others(43): Show a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0002c0002t0001g0082 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0018c0028t0005g0208 a0019c0027t0003g0207	46	298	0.1544	4	c.251 others(21): Show c.251+2407_251+2410dupTGTG	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111600935	A A	AAAAT AAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01243.hp2 HG01884.hp1 others(33): Show HG01071.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18979.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0007 a0008 a0012 a0013 a0014 a0018 a0019	a0001c0001 a0003c0004 a0003c0006 others(10): Show a0001c0001 a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0008c0023 a0012c0022 a0013c0021 a0014c0020 a0018c0028 a0019c0027	a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 others(13): Show a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0018c0028t0005 a0019c0027t0003	a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0291 others(33): Show a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0291 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0103 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0018c0028t0005g0208 a0019c0027t0003g0207	36	298	0.1208	4	c.-19 others(15): Show c.-1902_-1901insATTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding		1621	chr12	TogoVar
ATXN3_chr14_92053552_92111582	92059829	A A	AAAAG AAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01433.hp1 HG01928.hp1 others(3): Show HG00323.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG01981.hp2 NA20300.hp2	a0002 a0005 a0010 others(1): Show a0002 a0005 a0010 a0012	a0002c0002 a0005c0018 a0010c0011 others(1): Show a0002c0002 a0005c0018 a0010c0011 a0012c0029	a0002c0002t0018 a0005c0018t0018 a0010c0011t0049 others(1): Show a0002c0002t0018 a0005c0018t0018 a0010c0011t0049 a0012c0029t0018	a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0206 others(3): Show a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0206 a0005c0018t0018g0205 a0010c0011t0049g0376 a0012c0029t0018g0204	6	402	0.0149	4	c.44 others(15): Show c.4487_*4490dupCTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4490	chr14	TogoVar
ATXN3_chr14_92053552_92111582	92060266	A A	ATTTT ATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG02615.hp1 HG02809.hp2 others(8): Show HG00140.hp2 HG02615.hp1 HG02809.hp2 HG02976.hp1 HG03130.hp1 HG03453.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp2 NA18983.hp1 NA20300.hp1	a0008 a0013 a0018 others(5): Show a0008 a0013 a0018 a0031 a0032 a0033 a0046 a0047	a0008c0008 a0013c0012 a0018c0060 others(5): Show a0008c0008 a0013c0012 a0018c0060 a0031c0033 a0032c0034 a0033c0036 a0046c0046 a0047c0048	a0008c0008t0009 a0013c0012t0009 a0018c0060t0009 others(5): Show a0008c0008t0009 a0013c0012t0009 a0018c0060t0009 a0031c0033t0009 a0032c0034t0009 a0033c0036t0062 a0046c0046t0009 a0047c0048t0009	a0008c0008t0009g0030 a0008c0008t0009g0067 a0008c0008t0009g0086 others(8): Show a0008c0008t0009g0030 a0008c0008t0009g0067 a0008c0008t0009g0086 a0008c0008t0009g0087 a0013c0012t0009g0044 a0018c0060t0009g0160 a0031c0033t0009g0166 a0032c0034t0009g0171 a0033c0036t0062g0174 a0046c0046t0009g0167 a0047c0048t0009g0170	11	402	0.0274	4	c.40 others(15): Show c.4053_*4054insAAAA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4053	chr14	TogoVar
ATXN3_chr14_92053552_92111582	92060268	A A	ATTTT ATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(42): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01168.hp2 HG01884.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG03139.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18982.hp2 NA19003.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0003 a0006 a0008 others(10): Show a0003 a0006 a0008 a0009 a0013 a0015 a0018 a0020 a0021 a0026 a0034 a0037 a0054	a0003c0003 a0006c0005 a0008c0008 others(10): Show a0003c0003 a0006c0005 a0008c0008 a0009c0009 a0013c0012 a0015c0014 a0018c0024 a0020c0021 a0021c0023 a0026c0030 a0034c0038 a0037c0059 a0054c0044	a0003c0003t0002 a0003c0003t0077 a0006c0005t0002 others(15): Show a0003c0003t0002 a0003c0003t0077 a0006c0005t0002 a0006c0005t0060 a0008c0008t0002 a0009c0009t0002 a0009c0009t0063 a0013c0012t0002 a0015c0014t0002 a0015c0014t0058 a0018c0024t0002 a0020c0021t0002 a0020c0021t0061 a0021c0023t0002 a0026c0030t0002 a0034c0038t0002 a0037c0059t0002 a0054c0044t0002	a0003c0003t0002g0036 a0003c0003t0002g0058 a0003c0003t0002g0061 others(42): Show a0003c0003t0002g0036 a0003c0003t0002g0058 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0066 a0003c0003t0002g0082 a0003c0003t0002g0099 a0003c0003t0002g0100 a0003c0003t0002g0103 a0003c0003t0002g0321 a0003c0003t0002g0322 a0003c0003t0077g0101 a0006c0005t0002g0065 a0006c0005t0002g0073 a0006c0005t0002g0078 a0006c0005t0060g0088 a0008c0008t0002g0319 a0008c0008t0002g0320 a0008c0008t0002g0323 a0008c0008t0002g0324 a0008c0008t0002g0325 a0008c0008t0002g0326 a0008c0008t0002g0347 a0009c0009t0002g0009 a0009c0009t0002g0121 a0009c0009t0063g0281 a0013c0012t0002g0037 a0013c0012t0002g0041 a0013c0012t0002g0042 a0013c0012t0002g0045 a0013c0012t0002g0046 a0013c0012t0002g0047 a0013c0012t0002g0049 a0015c0014t0002g0060 a0015c0014t0058g0102 a0018c0024t0002g0072 a0018c0024t0002g0092 a0020c0021t0002g0010 a0020c0021t0002g0163 a0020c0021t0061g0011 a0021c0023t0002g0079 a0026c0030t0002g0031 a0034c0038t0002g0165 a0037c0059t0002g0280 a0054c0044t0002g0056	45	402	0.1119	4	c.40 others(15): Show c.4051_*4052insAAAA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4051	chr14	TogoVar
ATXN3_chr14_92053552_92111582	92060270	A A	ATTTT ATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02135.hp1 others(23): Show HG01257.hp1 HG01258.hp2 HG02135.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 NA18942.hp2 NA18954.hp1 NA18959.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp2 NA18995.hp2 NA18999.hp2 NA19010.hp2 NA19011.hp1 NA19059.hp1 NA19060.hp1 NA19081.hp1 NA19085.hp1 NA19089.hp1	a0003 a0006 a0009 others(5): Show a0003 a0006 a0009 a0015 a0021 a0030 a0040 a0048	a0003c0003 a0006c0005 a0009c0009 others(5): Show a0003c0003 a0006c0005 a0009c0009 a0015c0014 a0021c0023 a0030c0032 a0040c0055 a0048c0050	a0003c0003t0004 a0006c0005t0004 a0009c0009t0004 others(7): Show a0003c0003t0004 a0006c0005t0004 a0009c0009t0004 a0009c0009t0072 a0009c0009t0079 a0015c0014t0065 a0021c0023t0004 a0030c0032t0004 a0040c0055t0075 a0048c0050t0004	a0003c0003t0004g0001 a0003c0003t0004g0040 a0003c0003t0004g0074 others(20): Show a0003c0003t0004g0001 a0003c0003t0004g0040 a0003c0003t0004g0074 a0003c0003t0004g0081 a0003c0003t0004g0181 a0006c0005t0004g0002 a0006c0005t0004g0051 a0006c0005t0004g0052 a0006c0005t0004g0057 a0006c0005t0004g0084 a0009c0009t0004g0033 a0009c0009t0004g0053 a0009c0009t0004g0055 a0009c0009t0004g0059 a0009c0009t0004g0083 a0009c0009t0072g0034 a0009c0009t0079g0054 a0015c0014t0065g0050 a0021c0023t0004g0048 a0030c0032t0004g0038 a0030c0032t0004g0039 a0040c0055t0075g0295 a0048c0050t0004g0032	26	402	0.0647	4	c.40 others(15): Show c.4046_*4049dupAAAA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4049	chr14	TogoVar
ATXN3_chr14_92053552_92111582	92066774	A A	ATTTT ATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01069.hp1 others(59): Show HG00323.hp2 HG00408.hp2 HG01069.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01496.hp1 HG01884.hp1 HG02040.hp1 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA19009.hp2 NA19030.hp2 NA19055.hp2 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp2 NA19091.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0004 a0007 a0010 others(10): Show a0004 a0007 a0010 a0011 a0012 a0016 a0023 a0024 a0025 a0035 a0036 a0052 a0053	a0004c0004 a0007c0010 a0010c0011 others(11): Show a0004c0004 a0007c0010 a0010c0011 a0011c0063 a0012c0016 a0016c0042 a0023c0031 a0023c0041 a0024c0028 a0025c0027 a0035c0040 a0036c0043 a0052c0062 a0053c0061	a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 others(29): Show a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 a0004c0004t0118 a0007c0010t0006 a0007c0010t0019 a0007c0010t0024 a0007c0010t0051 a0007c0010t0052 a0007c0010t0053 a0010c0011t0006 a0010c0011t0019 a0010c0011t0047 a0010c0011t0049 a0011c0063t0098 a0012c0016t0006 a0012c0016t0029 a0012c0016t0030 a0012c0016t0045 a0012c0016t0046 a0016c0042t0005 a0023c0031t0006 a0023c0041t0006 a0024c0028t0037 a0024c0028t0048 a0025c0027t0030 a0025c0027t0100 a0035c0040t0006 a0035c0040t0037 a0036c0043t0006 a0052c0062t0006 a0053c0061t0006	a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 others(58): Show a0004c0004t0005g0089 a0004c0004t0005g0093 a0004c0004t0005g0094 a0004c0004t0005g0095 a0004c0004t0005g0096 a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0301 a0004c0004t0005g0302 a0004c0004t0005g0303 a0004c0004t0005g0304 a0004c0004t0005g0305 a0004c0004t0005g0306 a0004c0004t0005g0308 a0004c0004t0005g0309 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0005g0312 a0004c0004t0022g0006 a0004c0004t0022g0298 a0004c0004t0022g0307 a0004c0004t0117g0392 a0004c0004t0118g0090 a0007c0010t0006g0377 a0007c0010t0006g0381 a0007c0010t0019g0151 a0007c0010t0024g0124 a0007c0010t0024g0126 a0007c0010t0024g0127 a0007c0010t0051g0125 a0007c0010t0052g0207 a0007c0010t0053g0123 a0010c0011t0006g0275 a0010c0011t0006g0366 a0010c0011t0006g0372 a0010c0011t0019g0141 a0010c0011t0019g0142 a0010c0011t0019g0375 a0010c0011t0047g0374 a0010c0011t0049g0376 a0011c0063t0098g0315 a0012c0016t0006g0373 a0012c0016t0029g0012 a0012c0016t0029g0367 a0012c0016t0030g0379 a0012c0016t0045g0015 a0012c0016t0046g0014 a0016c0042t0005g0299 a0016c0042t0005g0300 a0023c0031t0006g0371 a0023c0041t0006g0378 a0023c0041t0006g0383 a0024c0028t0037g0026 a0024c0028t0048g0380 a0025c0027t0030g0389 a0025c0027t0100g0313 a0035c0040t0006g0365 a0035c0040t0037g0314 a0036c0043t0006g0369 a0052c0062t0006g0013 a0053c0061t0006g0368	62	402	0.1542	4	c.992 others(21): Show c.992-2364_992-2361dupAAAA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/10		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92078357	A A	ATTAT ATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp1 others(44): Show HG00140.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02886.hp1 HG03239.hp1 HG03491.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0012 a0022 a0023	a0001c0001 a0002c0002 a0005c0018 others(4): Show a0001c0001 a0002c0002 a0005c0018 a0007c0017 a0012c0029 a0022c0020 a0023c0031	a0001c0001t0001 a0001c0001t0008 a0001c0001t0115 others(18): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0115 a0002c0002t0003 a0002c0002t0017 a0002c0002t0018 a0002c0002t0040 a0002c0002t0089 a0002c0002t0108 a0002c0002t0109 a0002c0002t0111 a0005c0018t0003 a0005c0018t0017 a0005c0018t0018 a0007c0017t0003 a0007c0017t0017 a0007c0017t0110 a0012c0029t0018 a0012c0029t0039 a0022c0020t0003 a0023c0031t0003	a0001c0001t0001g0214 a0001c0001t0008g0240 a0001c0001t0115g0235 others(43): Show a0001c0001t0001g0214 a0001c0001t0008g0240 a0001c0001t0115g0235 a0002c0002t0003g0008 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0143 a0002c0002t0003g0152 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0017g0361 a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0018g0206 a0002c0002t0040g0183 a0002c0002t0040g0196 a0002c0002t0089g0382 a0002c0002t0108g0119 a0002c0002t0109g0178 a0002c0002t0111g0353 a0005c0018t0003g0175 a0005c0018t0017g0139 a0005c0018t0017g0182 a0005c0018t0017g0356 a0005c0018t0018g0205 a0007c0017t0003g0135 a0007c0017t0003g0362 a0007c0017t0003g0370 a0007c0017t0017g0138 a0007c0017t0110g0140 a0012c0029t0018g0204 a0012c0029t0039g0136 a0012c0029t0039g0137 a0022c0020t0003g0393 a0023c0031t0003g0145	47	402	0.1169	4	c.872 others(21): Show c.872+2604_872+2607dupATAA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	9/10		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92095099	T T	TAAAA TAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02258.hp2 others(17): Show HG01255.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp1 NA19043.hp2 NA19090.hp2	a0003 a0013 a0014 others(7): Show a0003 a0013 a0014 a0015 a0017 a0019 a0027 a0029 a0040 a0041	a0003c0003 a0013c0012 a0014c0015 others(7): Show a0003c0003 a0013c0012 a0014c0015 a0015c0014 a0017c0019 a0019c0022 a0027c0039 a0029c0035 a0040c0055 a0041c0054	a0003c0003t0002 a0013c0012t0002 a0014c0015t0026 others(12): Show a0003c0003t0002 a0013c0012t0002 a0014c0015t0026 a0014c0015t0035 a0014c0015t0036 a0014c0015t0093 a0015c0014t0065 a0017c0019t0013 a0017c0019t0031 a0019c0022t0013 a0019c0022t0031 a0027c0039t0026 a0029c0035t0013 a0040c0055t0075 a0041c0054t0076	a0003c0003t0002g0082 a0013c0012t0002g0049 a0014c0015t0026g0184 others(17): Show a0003c0003t0002g0082 a0013c0012t0002g0049 a0014c0015t0026g0184 a0014c0015t0035g0186 a0014c0015t0035g0188 a0014c0015t0036g0185 a0014c0015t0036g0187 a0014c0015t0093g0387 a0015c0014t0065g0050 a0017c0019t0013g0156 a0017c0019t0013g0157 a0017c0019t0013g0159 a0017c0019t0031g0154 a0019c0022t0013g0130 a0019c0022t0031g0155 a0027c0039t0026g0128 a0027c0039t0026g0129 a0029c0035t0013g0158 a0040c0055t0075g0295 a0041c0054t0076g0153	20	402	0.0498	4	c.234 others(19): Show c.234+990_234+993dupTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	3/10		chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105605042	C C	CTTTT CTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01168.hp1 others(38): Show HG00642.hp2 HG00741.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG03225.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18970.hp2 NA18971.hp1 NA18989.hp1 NA18994.hp1 NA19009.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0050 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0050 a0001c0001t0056 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0006g0001 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0034 a0001c0001t0006g0067 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0168 a0001c0001t0006g0197 a0001c0001t0050g0155 a0001c0001t0056g0210 a0001c0006t0001g0112	41	252	0.1627	4	c.28 others(15): Show c.2806_*2809dupAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	12/12	2809	chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105624649	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG01891.hp1 others(36): Show HG01243.hp1 HG01346.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02647.hp2 HG03491.hp1 HG03942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18970.hp2 NA18989.hp2 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0005t0007 a0001c0007t0038 a0001c0008t0014	a0001c0001t0001g0088 a0001c0001t0001g0201 a0001c0001t0002g0002 others(36): Show a0001c0001t0001g0088 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0100 a0001c0001t0003g0171 a0001c0001t0003g0238 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0159 a0001c0001t0009g0055 a0001c0001t0009g0097 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0010g0051 a0001c0001t0011g0170 a0001c0001t0013g0251 a0001c0001t0014g0233 a0001c0001t0015g0193 a0001c0001t0018g0094 a0001c0001t0023g0183 a0001c0005t0007g0209 a0001c0007t0038g0158 a0001c0008t0014g0165	39	252	0.1548	4	c.120 others(21): Show c.1203-386_1203-383dupTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	7/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105628792	C C	CAAAT CAAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 HG03239.hp2 others(10): Show HG01346.hp2 HG01515.hp1 HG03239.hp2 HG03688.hp2 HG03831.hp1 NA18747.hp2 NA18943.hp1 NA18954.hp1 NA18957.hp2 NA18995.hp1 NA19010.hp2 NA19056.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0051 a0001c0001t0058	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0074 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0153 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0009g0013 a0001c0001t0009g0054 a0001c0001t0009g0146 a0001c0001t0013g0243 a0001c0001t0051g0035 a0001c0001t0058g0018	13	252	0.0516	4	c.120 others(23): Show c.1203-4529_1203-4526dupATTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	7/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105641212	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp1 NA19043.hp2 HG03579.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029	a0001c0001t0004g0137 a0001c0001t0006g0116 a0001c0001t0029g0215 a0001c0001t0004g0137 a0001c0001t0006g0116 a0001c0001t0029g0215	3	252	0.0119	4	c.862 others(21): Show c.862+1625_862+1626insAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	5/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105645810	C C	CACAA CACAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01099.hp2 others(17): Show HG00558.hp1 HG00673.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp1 NA18747.hp1 NA18945.hp2 NA18950.hp2 NA18995.hp1 NA19043.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0056 a0001c0001t0061	a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0085 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0003g0071 a0001c0001t0003g0090 a0001c0001t0007g0218 a0001c0001t0008g0073 a0001c0001t0009g0054 a0001c0001t0009g0146 a0001c0001t0011g0101 a0001c0001t0012g0028 a0001c0001t0013g0243 a0001c0001t0018g0131 a0001c0001t0024g0077 a0001c0001t0028g0037 a0001c0001t0028g0114 a0001c0001t0056g0210 a0001c0001t0061g0036	20	252	0.0794	4	c.579 others(21): Show c.579-2693_579-2690dupTTGT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105645849	A A	AAACG AAACG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02071.hp2 HG02129.hp1 others(7): Show HG01934.hp2 HG02071.hp2 HG02129.hp1 HG02165.hp2 NA18948.hp2 NA18962.hp1 NA19054.hp1 NA19054.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0012 a0001c0001 a0001c0008 a0001c0012	a0001c0001t0002 a0001c0001t0005 a0001c0008t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0008t0014 a0001c0012t0003	a0001c0001t0002g0002 a0001c0001t0002g0142 a0001c0001t0002g0160 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0005g0027 a0001c0001t0005g0159 a0001c0008t0014g0165 a0001c0012t0003g0047	10	252	0.0397	4	c.579 others(21): Show c.579-2729_579-2728insCGTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105656576	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01884.hp1 others(17): Show HG00280.hp2 HG00323.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG03041.hp1 HG03225.hp2 NA18943.hp2 NA18970.hp1 NA18989.hp1 NA19003.hp2 NA19066.hp2 NA19079.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0034 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0002c0002t0059	a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0222 others(17): Show a0001c0001t0001g0102 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0006g0197 a0001c0001t0009g0055 a0001c0001t0009g0103 a0001c0001t0011g0012 a0001c0001t0011g0143 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0014g0083 a0001c0001t0014g0237 a0001c0001t0018g0046 a0001c0001t0034g0068 a0001c0001t0053g0031 a0001c0001t0055g0252 a0001c0001t0056g0210 a0002c0002t0059g0200	20	252	0.0794	4	c.578 others(21): Show c.578+8486_578+8489dupAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105657702	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00738.hp1 others(14): Show HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02027.hp2 HG02300.hp2 HG02647.hp2 HG03139.hp2 HG03225.hp1 NA18970.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0046 a0001c0001t0061 a0002c0002t0022	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(14): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0201 a0001c0001t0003g0086 a0001c0001t0004g0198 a0001c0001t0005g0126 a0001c0001t0006g0067 a0001c0001t0011g0012 a0001c0001t0011g0164 a0001c0001t0013g0236 a0001c0001t0018g0046 a0001c0001t0021g0184 a0001c0001t0027g0008 a0001c0001t0046g0138 a0001c0001t0061g0036 a0002c0002t0022g0066	17	252	0.0675	4	c.578 others(21): Show c.578+7360_578+7363dupTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105658582	G G	GTGCA GTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00735.hp1 others(31): Show HG00280.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02300.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18970.hp1 NA19003.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0061 a0002c0002t0022 a0002c0002t0033 a0006c0010t0031	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(31): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0201 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0004g0198 a0001c0001t0005g0126 a0001c0001t0005g0206 a0001c0001t0006g0067 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0011g0012 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0012g0232 a0001c0001t0013g0156 a0001c0001t0013g0236 a0001c0001t0014g0083 a0001c0001t0015g0193 a0001c0001t0017g0113 a0001c0001t0017g0195 a0001c0001t0017g0213 a0001c0001t0021g0184 a0001c0001t0024g0250 a0001c0001t0027g0008 a0001c0001t0044g0110 a0001c0001t0045g0190 a0001c0001t0046g0138 a0001c0001t0052g0133 a0001c0001t0061g0036 a0002c0002t0022g0066 a0002c0002t0033g0221 a0006c0010t0031g0204	34	252	0.1349	4	c.578 others(21): Show c.578+6480_578+6483dupTGCA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00738.hp1 others(4): Show HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG02300.hp2 NA19003.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0082 a0001c0001t0003g0076 a0001c0001t0003g0086 others(4): Show a0001c0001t0001g0082 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0013g0236 a0001c0001t0014g0083	7	252	0.0278	4	c.356 others(21): Show c.356-5820_356-5817dupTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692370	T T	TTTCC TTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01358.hp1 others(23): Show HG00642.hp2 HG01192.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02148.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03209.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18995.hp2 NA19003.hp2 NA19079.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0004t0010 a0001c0005t0007 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0003c0003t0020	a0001c0001t0001g0059 a0001c0001t0001g0145 a0001c0001t0001g0201 others(23): Show a0001c0001t0001g0059 a0001c0001t0001g0145 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0002g0049 a0001c0001t0003g0070 a0001c0001t0005g0126 a0001c0001t0006g0022 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0016g0136 a0001c0001t0017g0195 a0001c0001t0020g0120 a0001c0001t0024g0250 a0001c0001t0026g0234 a0001c0001t0050g0155 a0001c0001t0053g0031 a0001c0001t0054g0087 a0001c0004t0010g0154 a0001c0005t0007g0209 a0002c0002t0030g0208 a0002c0002t0032g0149 a0002c0002t0033g0221 a0003c0003t0020g0199	26	252	0.1032	4	c.356 others(23): Show c.356-27086_356-27083dupGGAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTC TCCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18945.hp2 NA18950.hp2 HG02965.hp1 NA18945.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0044 a0001c0001t0001 a0001c0001t0011 a0001c0001t0044	a0001c0001t0001g0085 a0001c0001t0011g0101 a0001c0001t0044g0110 a0001c0001t0001g0085 a0001c0001t0011g0101 a0001c0001t0044g0110	3	252	0.0119	4	c.356 others(23): Show c.356-27140_356-27137dupGAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105705014	T T	TTTTA TTTTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01167.hp2 others(22): Show HG00673.hp2 HG00735.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01346.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02523.hp2 HG02735.hp1 HG03490.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp1 NA18995.hp1 NA19054.hp2 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0048 a0001c0001t0064 a0001c0004t0010 a0001c0006t0001 a0001c0012t0003 a0005c0011t0008	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0088 others(22): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0174 a0001c0001t0002g0016 a0001c0001t0002g0186 a0001c0001t0003g0011 a0001c0001t0003g0118 a0001c0001t0004g0039 a0001c0001t0008g0015 a0001c0001t0009g0054 a0001c0001t0009g0097 a0001c0001t0010g0091 a0001c0001t0012g0052 a0001c0001t0013g0129 a0001c0001t0014g0123 a0001c0001t0016g0176 a0001c0001t0018g0131 a0001c0001t0028g0037 a0001c0001t0048g0132 a0001c0001t0064g0098 a0001c0004t0010g0154 a0001c0006t0001g0112 a0001c0012t0003g0047 a0005c0011t0008g0092	25	252	0.0992	4	c.356 others(23): Show c.356-39730_356-39727dupTAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	G G	GCACA GCACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02523.hp2 NA18945.hp1 others(3): Show HG01169.hp2 HG02523.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0048	a0001c0001t0001g0085 a0001c0001t0002g0186 a0001c0001t0003g0118 others(3): Show a0001c0001t0001g0085 a0001c0001t0002g0186 a0001c0001t0003g0118 a0001c0001t0009g0054 a0001c0001t0011g0101 a0001c0001t0048g0132	6	252	0.0238	4	c.356 others(23): Show c.356-51381_356-51378dupTGTG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	T T	TAAAA TAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00741.hp1 others(32): Show HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18948.hp1 NA18970.hp1 NA19003.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0047 a0001c0001t0051 a0001c0007t0038 a0002c0002t0030 a0002c0002t0032 a0002c0002t0059 a0003c0003t0005	a0001c0001t0001g0078 a0001c0001t0001g0145 a0001c0001t0001g0214 others(32): Show a0001c0001t0001g0078 a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0003g0070 a0001c0001t0003g0086 a0001c0001t0003g0100 a0001c0001t0003g0147 a0001c0001t0003g0171 a0001c0001t0004g0023 a0001c0001t0004g0203 a0001c0001t0006g0034 a0001c0001t0006g0117 a0001c0001t0006g0168 a0001c0001t0008g0249 a0001c0001t0009g0146 a0001c0001t0010g0228 a0001c0001t0011g0012 a0001c0001t0011g0099 a0001c0001t0011g0157 a0001c0001t0011g0164 a0001c0001t0013g0236 a0001c0001t0016g0061 a0001c0001t0017g0194 a0001c0001t0021g0184 a0001c0001t0047g0121 a0001c0001t0051g0035 a0001c0007t0038g0158 a0002c0002t0030g0208 a0002c0002t0032g0149 a0002c0002t0032g0226 a0002c0002t0059g0200 a0003c0003t0005g0079	35	252	0.1389	4	c.356 others(23): Show c.356-57276_356-57273dupTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729277	A A	AAATG AAATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01099.hp2 others(51): Show HG00558.hp1 HG01099.hp1 HG01099.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03579.hp2 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18989.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19088.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0010 a0001c0001 a0001c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0058 a0001c0001t0061 a0001c0001t0063 a0001c0008t0014 a0006c0010t0031	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 others(51): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0002g0010 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0002g0245 a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0090 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0159 a0001c0001t0005g0206 a0001c0001t0006g0001 a0001c0001t0006g0022 a0001c0001t0007g0057 a0001c0001t0007g0223 a0001c0001t0008g0089 a0001c0001t0008g0175 a0001c0001t0009g0013 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0011g0170 a0001c0001t0012g0064 a0001c0001t0014g0166 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0017g0213 a0001c0001t0019g0063 a0001c0001t0022g0224 a0001c0001t0027g0008 a0001c0001t0029g0215 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0041g0196 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0049g0148 a0001c0001t0058g0018 a0001c0001t0061g0036 a0001c0001t0063g0041 a0001c0008t0014g0165 a0006c0010t0031g0204	54	252	0.2143	4	c.355 others(23): Show c.355+59323_355+59326dupCATT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729301	G G	GAATA GAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01167.hp2 others(11): Show HG00673.hp2 HG00735.hp2 HG01167.hp2 HG01169.hp2 HG02280.hp2 HG02451.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03688.hp2 NA18945.hp2 NA18950.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0044	a0001c0001t0001g0017 a0001c0001t0001g0085 a0001c0001t0001g0205 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0085 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0003g0118 a0001c0001t0005g0248 a0001c0001t0007g0218 a0001c0001t0008g0075 a0001c0001t0010g0091 a0001c0001t0011g0101 a0001c0001t0012g0052 a0001c0001t0014g0123 a0001c0001t0027g0134 a0001c0001t0044g0110	14	252	0.0556	4	c.355 others(23): Show c.355+59299_355+59302dupTATT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733581	C C	CCCAT CCCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02630.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02630.hp2 HG03130.hp1 HG03471.hp2 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0003 a0001c0001t0014 a0001c0001t0016 others(3): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0002c0002t0030 a0007c0009t0007	a0001c0001t0003g0118 a0001c0001t0014g0123 a0001c0001t0016g0069 others(3): Show a0001c0001t0003g0118 a0001c0001t0014g0123 a0001c0001t0016g0069 a0001c0001t0028g0114 a0002c0002t0030g0212 a0007c0009t0007g0096	6	252	0.0238	4	c.355 others(23): Show c.355+55019_355+55022dupATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733605	C C	CCCAT CCCAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01192.hp2 others(17): Show HG00673.hp2 HG00735.hp2 HG01192.hp2 HG01346.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02523.hp2 HG03139.hp2 HG03491.hp2 HG03669.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18970.hp2 NA18971.hp1 NA19066.hp1 NA19086.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0011 a0001c0001 a0001c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0027 a0001c0001t0048 a0001c0001t0064 a0001c0006t0001 a0005c0011t0008	a0001c0001t0001g0033 a0001c0001t0001g0085 a0001c0001t0001g0088 others(17): Show a0001c0001t0001g0033 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0174 a0001c0001t0002g0002 a0001c0001t0003g0011 a0001c0001t0004g0039 a0001c0001t0007g0144 a0001c0001t0009g0097 a0001c0001t0010g0032 a0001c0001t0010g0091 a0001c0001t0011g0101 a0001c0001t0012g0052 a0001c0001t0013g0129 a0001c0001t0016g0176 a0001c0001t0027g0008 a0001c0001t0048g0132 a0001c0001t0064g0098 a0001c0006t0001g0112 a0005c0011t0008g0092	20	252	0.0794	4	c.355 others(23): Show c.355+54995_355+54998dupATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733674	C C	CTATG CTATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01069.hp1 others(4): Show HG00323.hp1 HG00741.hp2 HG01069.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0021 a0001c0001t0045 a0001c0001t0055 a0001c0001t0060	a0001c0001t0003g0150 a0001c0001t0005g0182 a0001c0001t0019g0062 others(4): Show a0001c0001t0003g0150 a0001c0001t0005g0182 a0001c0001t0019g0062 a0001c0001t0021g0130 a0001c0001t0045g0190 a0001c0001t0055g0252 a0001c0001t0060g0192	7	252	0.0278	4	c.355 others(23): Show c.355+54929_355+54930insCATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733841	C C	CCCAT CCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00735.hp1 others(18): Show HG00280.hp1 HG00280.hp2 HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG02148.hp2 HG02451.hp2 HG02572.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03942.hp2 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0013 a0001c0001 a0003c0003 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0056 a0001c0001t0061 a0003c0003t0020 a0004c0013t0036	a0001c0001t0001g0205 a0001c0001t0002g0239 a0001c0001t0004g0084 others(18): Show a0001c0001t0001g0205 a0001c0001t0002g0239 a0001c0001t0004g0084 a0001c0001t0004g0198 a0001c0001t0007g0144 a0001c0001t0010g0051 a0001c0001t0012g0232 a0001c0001t0013g0243 a0001c0001t0014g0083 a0001c0001t0015g0060 a0001c0001t0015g0193 a0001c0001t0017g0195 a0001c0001t0018g0058 a0001c0001t0025g0104 a0001c0001t0025g0240 a0001c0001t0026g0234 a0001c0001t0033g0040 a0001c0001t0056g0210 a0001c0001t0061g0036 a0003c0003t0020g0199 a0004c0013t0036g0107	21	252	0.0833	4	c.355 others(23): Show c.355+54759_355+54762dupATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11		chr7	TogoVar

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