JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115869964	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp1 HG03579.hp2 others(1): Show HG03209.hp1 HG03453.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0011 a0001c0003t0015 a0001c0003t0047 others(1): Show a0001c0001t0011 a0001c0003t0015 a0001c0003t0047 a0001c0010t0006	a0001c0001t0011g0112 a0001c0003t0015g0108 a0001c0003t0047g0128 others(1): Show a0001c0001t0011g0112 a0001c0003t0015g0108 a0001c0003t0047g0128 a0001c0010t0006g0087	4	128	0.0313	-6	c.401 others(27): Show c.4018+21996_4018+22001delTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01123.hp1 others(13): Show HG00735.hp1 HG00741.hp2 HG01123.hp1 HG01515.hp2 HG01952.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02717.hp2 HG03239.hp1 HG04115.hp1 HG06807.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0029 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0120 others(13): Show a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0003g0066 a0001c0001t0003g0092 a0001c0001t0003g0104 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0010g0018 a0001c0001t0029g0075 a0001c0003t0001g0083 a0001c0003t0003g0049	16	128	0.1250	-6	c.401 others(27): Show c.4018+23484_4018+23489delGTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115950298	CCATTCT CCATTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02717.hp2 others(1): Show HG02280.hp2 HG02622.hp2 HG02717.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0003t0001	a0001c0001t0002g0113 a0001c0001t0008g0023 a0001c0001t0025g0021 others(1): Show a0001c0001t0002g0113 a0001c0001t0008g0023 a0001c0001t0025g0021 a0001c0003t0001g0083	4	128	0.0313	-6	c.55 others(17): Show c.5520_*5525delCATTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding					1300		chr10	TogoVar
ATRN_chr20_3466018_3656118	3484909	AATTATT AATTATT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp1 HG01884.hp2 others(21): Show HG01081.hp1 HG01257.hp1 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0002 a0001c0005 a0001c0013 others(5): Show a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0002c0004 a0002c0012 a0005c0009 a0011c0022	a0001c0002t0025 a0001c0005t0007 a0001c0013t0008 others(11): Show a0001c0002t0025 a0001c0005t0007 a0001c0013t0008 a0001c0013t0026 a0001c0014t0002 a0001c0014t0015 a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0005c0009t0004 a0011c0022t0004	a0001c0002t0025g0090 a0001c0005t0007g0191 a0001c0013t0008g0171 others(21): Show a0001c0002t0025g0090 a0001c0005t0007g0191 a0001c0013t0008g0171 a0001c0013t0026g0169 a0001c0014t0002g0170 a0001c0014t0002g0174 a0001c0014t0015g0001 a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	24	220	0.1091	-6	c.410 others(25): Show c.410+13426_410+13431delATTATT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492875	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02976.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02976.hp1 HG03209.hp2 HG03540.hp2	a0004 a0004	a0004c0011 a0004c0016 a0004c0011 a0004c0016	a0004c0011t0004 a0004c0011t0008 a0004c0016t0013 others(1): Show a0004c0011t0004 a0004c0011t0008 a0004c0016t0013 a0004c0016t0015	a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 others(2): Show a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 a0004c0016t0013g0167 a0004c0016t0015g0166	5	220	0.0227	-6	c.410 others(25): Show c.410+21375_410+21380delCACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATA GATAATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp1 others(48): Show HG00621.hp2 HG00639.hp1 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG02015.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18957.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19064.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0014 a0003c0008 a0003c0017 a0003c0018 a0004c0016 a0007c0027 a0008c0030 a0008c0031 a0014c0026 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0020 a0001c0002t0021 a0001c0002t0032 a0001c0003t0010 a0001c0003t0035 a0001c0007t0006 a0001c0013t0026 a0001c0014t0002 a0001c0014t0015 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007 a0004c0016t0013 a0007c0027t0014 a0008c0030t0011 a0008c0031t0036 a0014c0026t0001 a0015c0021t0034	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0057 others(48): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0001g0140 a0001c0001t0001g0163 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0009g0047 a0001c0001t0010g0011 a0001c0001t0010g0096 a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0014g0010 a0001c0001t0015g0005 a0001c0001t0033g0094 a0001c0002t0003g0023 a0001c0002t0003g0078 a0001c0002t0003g0146 a0001c0002t0003g0176 a0001c0002t0004g0124 a0001c0002t0006g0067 a0001c0002t0006g0164 a0001c0002t0008g0035 a0001c0002t0008g0081 a0001c0002t0008g0082 a0001c0002t0020g0098 a0001c0002t0021g0004 a0001c0002t0032g0033 a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0007t0006g0202 a0001c0013t0026g0169 a0001c0014t0002g0170 a0001c0014t0015g0001 a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0008t0029g0196 a0003c0017t0021g0199 a0003c0018t0007g0200 a0004c0016t0013g0167 a0007c0027t0014g0029 a0008c0030t0011g0093 a0008c0031t0036g0139 a0014c0026t0001g0032 a0015c0021t0034g0204	51	220	0.2318	-6	c.411 others(25): Show c.411-30519_411-30514delATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3506057	GACACAT GACACAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG01891.hp1 others(11): Show HG01243.hp2 HG01496.hp1 HG01891.hp1 HG02015.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0007c0015 a0007c0027 a0009c0019 a0009c0020	a0001c0001t0001 a0001c0003t0002 a0001c0003t0031 others(7): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0006t0003 a0007c0015t0004 a0007c0015t0024 a0007c0027t0014 a0009c0019t0004 a0009c0020t0014	a0001c0001t0001g0163 a0001c0003t0002g0214 a0001c0003t0002g0215 others(11): Show a0001c0001t0001g0163 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0031g0218 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0007c0015t0004g0026 a0007c0015t0024g0137 a0007c0027t0014g0029 a0009c0019t0004g0210 a0009c0020t0014g0209	14	220	0.0636	-6	c.411 others(25): Show c.411-29172_411-29167delTACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3531797	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp2 others(14): Show HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0004 a0002c0012 a0005c0009 others(1): Show a0002c0004 a0002c0012 a0005c0009 a0011c0022	a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 others(5): Show a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0005c0009t0004 a0011c0022t0004	a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 others(14): Show a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009	17	220	0.0773	-6	c.411 others(23): Show c.411-3435_411-3430delCAACAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG03209.hp1 others(7): Show HG01261.hp1 HG02257.hp1 HG03209.hp1 NA18612.hp1 NA18906.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA19086.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0016c0028 a0001c0001 a0001c0002 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0027 a0001c0002t0032 a0016c0028t0001	a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0002g0040 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0077 a0001c0001t0005g0068 a0001c0001t0019g0129 a0001c0001t0027g0095 a0001c0002t0032g0033 a0016c0028t0001g0074	10	220	0.0455	-6	c.494 others(21): Show c.494+286_494+291delCACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3542628	TCCCTTC TCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00733.hp2 others(53): Show HG00140.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA19081.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0010 a0011 a0017	a0001c0003 a0001c0005 a0001c0006 others(12): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0002c0004 a0002c0012 a0003c0008 a0003c0017 a0003c0018 a0005c0009 a0009c0019 a0009c0020 a0010c0023 a0011c0022 a0017c0032	a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 others(27): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0031 a0001c0003t0035 a0001c0003t0037 a0001c0005t0007 a0001c0005t0038 a0001c0006t0003 a0001c0006t0004 a0001c0006t0020 a0001c0007t0003 a0001c0007t0006 a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007 a0005c0009t0004 a0009c0019t0004 a0009c0020t0014 a0010c0023t0007 a0011c0022t0004 a0017c0032t0001	a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(53): Show a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0003t0010g0206 a0001c0003t0031g0218 a0001c0003t0035g0205 a0001c0003t0037g0194 a0001c0005t0007g0181 a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0191 a0001c0005t0007g0192 a0001c0005t0007g0213 a0001c0005t0038g0189 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0006t0004g0177 a0001c0006t0004g0186 a0001c0006t0020g0180 a0001c0007t0003g0185 a0001c0007t0003g0193 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0158 a0002c0012t0013g0161 a0002c0012t0019g0157 a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0008t0029g0196 a0003c0017t0021g0199 a0003c0018t0007g0200 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0009c0019t0004g0210 a0009c0020t0014g0209 a0010c0023t0007g0182 a0011c0022t0004g0009 a0017c0032t0001g0195	56	220	0.2546	-6	c.608 others(23): Show c.608+2308_608+2313delCTTCCC		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	3/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG00741.hp1 others(21): Show HG00099.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03225.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp2 NA19075.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0006 a0001c0007 others(2): Show a0001c0002 a0001c0006 a0001c0007 a0002c0004 a0005c0009	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(7): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0025 a0001c0006t0003 a0001c0006t0004 a0001c0007t0003 a0002c0004t0004 a0002c0004t0016 a0005c0009t0004	a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0063 others(21): Show a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0063 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0085 a0001c0002t0003g0147 a0001c0002t0003g0176 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0067 a0001c0002t0006g0069 a0001c0002t0025g0090 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0006t0004g0177 a0001c0006t0004g0186 a0001c0007t0003g0193 a0002c0004t0004g0159 a0002c0004t0004g0162 a0002c0004t0016g0156 a0005c0009t0004g0007	24	220	0.1091	-6	c.386 others(25): Show c.3864-3352_3864-3347delTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77506897	CTTTTTT CTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0134 a0001c0001t0019g0134	1	218	0.0046	-6	c.14 others(17): Show c.1448_*1453delAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	35/35				1448		chrX	TogoVar
ATRX_chrX_77499880_77791216	77538230	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0078 a0001c0001t0021g0078	1	218	0.0046	-6	c.670 others(27): Show c.6700-14835_6700-14830delGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77556272	AGAGAGG AGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	218	0.0046	-6	c.669 others(25): Show c.6699+1173_6699+1178delCCTCTC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77556311	AAGAGGG AAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	218	0.0046	-6	c.669 others(25): Show c.6699+1134_6699+1139delCCCTCT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77561426	AAGTATT AAGTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03453.hp2 HG01243.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0077 a0001c0001t0021g0078 a0001c0001t0008g0077 a0001c0001t0021g0078	2	218	0.0092	-6	c.632 others(25): Show c.6327-2586_6327-2581delAATACT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77563702	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01257.hp1 HG00280.hp1 HG01106.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141	3	218	0.0138	-6	c.632 others(25): Show c.6327-4862_6327-4857delACACAC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 NA19240.hp2 HG01516.hp2 HG01517.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0002c0002t0016 a0001c0001t0005 a0002c0002t0001 a0002c0002t0016	a0001c0001t0005g0135 a0002c0002t0001g0045 a0002c0002t0016g0046 a0001c0001t0005g0135 a0002c0002t0001g0045 a0002c0002t0016g0046	3	218	0.0138	-6	c.621 others(25): Show c.6217+4245_6217+4250delTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77602365	CGATTAT CGATTAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	218	0.0046	-6	c.556 others(25): Show c.5567-1807_5567-1802delATAATC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	22/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 others(18): Show HG00597.hp2 HG00609.hp1 HG00621.hp1 HG02056.hp1 HG02083.hp1 HG02647.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 NA18612.hp1 NA18948.hp1 NA18973.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19080.hp1 NA19091.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0195 others(18): Show a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0195 a0001c0001t0002g0101 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0168 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0003g0162 a0001c0001t0004g0185 a0001c0001t0004g0191 a0001c0001t0005g0073 a0001c0001t0007g0067 a0001c0001t0011g0001 a0001c0001t0014g0150 a0002c0002t0001g0014 a0002c0002t0001g0050 a0002c0002t0001g0062 a0002c0002t0002g0032 a0002c0002t0006g0056	21	218	0.0963	-6	c.513 others(25): Show c.5135-5502_5135-5497delATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77659482	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp1 HG02280.hp1 others(5): Show HG00558.hp1 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 NA19007.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0142 a0001c0001t0004g0186 a0001c0001t0004g0194 others(5): Show a0001c0001t0002g0142 a0001c0001t0004g0186 a0001c0001t0004g0194 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0213 a0001c0001t0010g0083	8	218	0.0367	-6	c.412 others(25): Show c.4121-2835_4121-2830delGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	12/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77667293	ATATGTG ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	218	0.0046	-6	c.381 others(25): Show c.3810-2521_3810-2516delCACATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77667295	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp1 others(75): Show HG00140.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02965.hp1 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0010t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0003c0006t0001	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0002g0158 others(75): Show a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0199 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0004g0122 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0205 a0001c0001t0004g0218 a0001c0001t0005g0135 a0001c0001t0007g0066 a0001c0001t0010g0083 a0001c0001t0011g0001 a0001c0001t0017g0183 a0001c0010t0006g0197 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0114 a0002c0002t0001g0140 a0002c0002t0001g0204 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0037 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0177 a0002c0002t0006g0056 a0002c0002t0006g0207 a0002c0002t0013g0008 a0002c0002t0015g0043 a0003c0006t0001g0015 a0003c0006t0001g0159	78	218	0.3578	-6	c.381 others(25): Show c.3810-2523_3810-2518delCACACA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03209.hp1 HG03471.hp1 others(1): Show HG02895.hp1 HG03209.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 others(1): Show a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0070	4	218	0.0184	-6	c.484 others(21): Show c.484+972_484+977delACACAC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77708664	AAAAAAT AAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(50): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01257.hp2 HG01258.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02683.hp1 HG03239.hp1 HG03654.hp1 HG03710.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0011 a0001c0001 a0001c0013 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0013t0002 a0004c0011t0002	a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0121 others(50): Show a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0157 a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0006g0165 a0001c0001t0006g0214 a0001c0001t0014g0150 a0001c0013t0002g0212 a0004c0011t0002g0093	53	218	0.2431	-6	c.133 others(23): Show c.133+8461_133+8466delATTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02809.hp2 others(2): Show HG02559.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0007 a0001c0005t0005 a0001c0001t0005 a0001c0001t0007 a0001c0005t0005	a0001c0001t0005g0069 a0001c0001t0007g0068 a0001c0001t0007g0070 others(2): Show a0001c0001t0005g0069 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0005t0005g0081 a0001c0005t0005g0082	5	218	0.0229	-6	c.133 others(23): Show c.133+1015_133+1020delAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77728759	CTTTTCT CTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	218	0.0046	-6	c.21- others(23): Show c.21-11522_21-11517delAGAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77762349	AAGAGAT AAGAGAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	218	0.0046	-6	c.20+ others(23): Show c.20+23627_20+23632delATCTCT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77786905	TACACAC TACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG02055.hp1 others(16): Show HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp2 NA19011.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0003t0001 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0006c0008t0003	a0001c0001t0001g0198 a0001c0001t0002g0199 a0001c0001t0003g0201 others(16): Show a0001c0001t0001g0198 a0001c0001t0002g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0004g0187 a0001c0001t0005g0075 a0001c0001t0005g0213 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0021g0078 a0001c0003t0001g0080 a0001c0005t0005g0076 a0001c0005t0005g0081 a0001c0005t0005g0082 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0002g0053 a0002c0002t0002g0065 a0006c0008t0003g0203	19	218	0.0872	-6	c.-91 others(15): Show c.-910_-905delGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					690		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790932	GTGTATA GTGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03195.hp2 HG02258.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0002g0199 a0001c0001t0003g0201 a0001c0001t0003g0202	3	218	0.0138	-6	c.-49 others(17): Show c.-4937_-4932delTATACA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4717		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	GTATATA GTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG03453.hp1 NA19030.hp1 others(1): Show HG00738.hp1 HG03453.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0135 a0001c0003t0001g0095 a0001c0003t0001g0167 others(1): Show a0001c0001t0005g0135 a0001c0003t0001g0095 a0001c0003t0001g0167 a0001c0003t0001g0217	4	218	0.0184	-6	c.-49 others(17): Show c.-4939_-4934delTATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4719		chrX	TogoVar
ATR_chr3_142444235_142583733	142472085	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00735.hp2 others(37): Show HG00323.hp1 HG00423.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02056.hp1 HG02165.hp1 HG02273.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18986.hp2 NA19007.hp2 NA19054.hp1 NA19057.hp2 NA19082.hp2 NA19084.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0004 a0001c0006 a0002c0002 others(2): Show a0001c0004 a0001c0006 a0002c0002 a0003c0003 a0005c0011	a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 others(2): Show a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0003c0003t0001 a0005c0011t0001	a0001c0004t0001g0156 a0001c0004t0001g0316 a0001c0004t0001g0317 others(36): Show a0001c0004t0001g0156 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0001g0318 a0001c0004t0001g0319 a0001c0006t0001g0006 a0002c0002t0001g0024 a0003c0003t0001g0001 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0005c0011t0001g0234	40	322	0.1242	-6	c.622 others(25): Show c.6222-1908_6222-1903delCACACA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATA CTATATA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18944.hp2 NA19007.hp1 HG01346.hp1 NA18944.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0256 a0002c0002t0001g0271 a0002c0002t0001g0241 a0002c0002t0001g0256 a0002c0002t0001g0271	3	322	0.0093	-6	c.589 others(21): Show c.5898+77_5898+82delTATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45667946	GATATAT GATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01243.hp1 others(24): Show HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01943.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18989.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0078 others(24): Show a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0316 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0009g0133 a0001c0001t0011g0135 a0001c0001t0012g0080	27	316	0.0854	-6	c.-41 others(17): Show c.-4117_-4112delATATAT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding					3887		chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740679	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(144): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0002c0003t0001	a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0078 others(144): Show a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0153 a0001c0001t0002g0212 a0001c0001t0002g0248 a0001c0001t0003g0308 a0001c0001t0004g0140 a0001c0001t0004g0225 a0001c0001t0004g0244 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0011g0135 a0001c0001t0015g0239 a0001c0001t0016g0301 a0001c0001t0017g0246 a0002c0003t0001g0184	147	316	0.4652	-6	c.117 others(23): Show c.1173+177_1173+182delCACACA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01515.hp1 others(9): Show HG00558.hp2 HG00597.hp1 HG01515.hp1 HG01975.hp1 HG02735.hp1 NA18969.hp2 NA18980.hp2 NA18981.hp1 NA19002.hp1 NA19011.hp1 NA19077.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0106 a0001c0001t0001g0190	12	316	0.0380	-6	c.117 others(27): Show c.1173+12882_1173+12887delTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45827129	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02129.hp1 HG02717.hp1 others(4): Show HG00741.hp2 HG02129.hp1 HG02717.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0093 a0001c0001t0006g0086	7	316	0.0222	-6	c.123 others(27): Show c.1238-15824_1238-15819delACACAC		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16308322	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01109.hp1 others(27): Show HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG02056.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18960.hp2 NA19030.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0021 a0033	a0001c0001 a0001c0052 a0002c0002 others(17): Show a0001c0001 a0001c0052 a0002c0002 a0003c0003 a0003c0051 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0008c0012 a0009c0025 a0009c0042 a0010c0010 a0012c0011 a0013c0038 a0014c0017 a0015c0030 a0015c0055 a0021c0021 a0033c0044	a0001c0001t0011 a0001c0052t0047 a0002c0002t0010 others(21): Show a0001c0001t0011 a0001c0052t0047 a0002c0002t0010 a0003c0003t0009 a0003c0051t0010 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0010 a0006c0008t0011 a0006c0043t0010 a0008c0012t0005 a0009c0025t0031 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0012c0011t0004 a0013c0038t0034 a0014c0017t0004 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0021c0021t0014 a0033c0044t0024	a0001c0001t0011g0131 a0001c0052t0047g0060 a0002c0002t0010g0015 others(27): Show a0001c0001t0011g0131 a0001c0052t0047g0060 a0002c0002t0010g0015 a0003c0003t0009g0055 a0003c0051t0010g0173 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0043t0010g0128 a0008c0012t0005g0078 a0008c0012t0005g0168 a0009c0025t0031g0058 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0012c0011t0004g0050 a0012c0011t0004g0161 a0013c0038t0034g0139 a0014c0017t0004g0171 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0021c0021t0014g0082 a0033c0044t0024g0048	30	182	0.1648	-6	c.191 others(25): Show c.1918-1469_1918-1464delTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327672	CTGCTGA CTGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG01243.hp1 HG02630.hp2 others(6): Show HG01109.hp2 HG01243.hp1 HG02630.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG06807.hp2 NA18906.hp1	a0007 a0029 a0030 a0007 a0029 a0030	a0007c0009 a0007c0059 a0029c0057 others(1): Show a0007c0009 a0007c0059 a0029c0057 a0030c0058	a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 others(3): Show a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0029c0057t0001 a0030c0058t0018	a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 others(6): Show a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0029c0057t0001g0016 a0030c0058t0018g0054	9	182	0.0495	-6	c.633 others(13): Show c.633_638delTCAGCA	p.His others(13): Show p.His211_Gln212del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1530/10557	633/2448	211/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484947	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 NA18522.hp2 HG02257.hp2 HG02723.hp2 NA18522.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0008 a0002c0002 a0003c0003 a0006c0008	a0002c0002t0010 a0003c0003t0001 a0006c0008t0002 a0002c0002t0010 a0003c0003t0001 a0006c0008t0002	a0002c0002t0010g0015 a0003c0003t0001g0039 a0006c0008t0002g0013 a0002c0002t0010g0015 a0003c0003t0001g0039 a0006c0008t0002g0013	3	182	0.0165	-6	c.-16 others(25): Show c.-161+1019_-161+1024delCACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16544535	CTCTGAG CTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp2 HG02965.hp1 NA18906.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0010 a0003c0003 a0010c0010	a0003c0003t0009 a0010c0010t0006 a0003c0003t0009 a0010c0010t0006	a0003c0003t0009g0055 a0010c0010t0006g0112 a0003c0003t0009g0055 a0010c0010t0006g0112	2	182	0.0110	-6	c.-36 others(27): Show c.-360-21853_-360-21848delCTCAGA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16577772	GCTCACT GCTCACT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02451.hp1 others(19): Show HG01255.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0022 a0029 a0032 a0034 a0035	a0001c0028 a0001c0029 a0002c0002 others(12): Show a0001c0028 a0001c0029 a0002c0002 a0003c0003 a0005c0006 a0005c0060 a0006c0008 a0007c0009 a0009c0025 a0010c0010 a0022c0019 a0029c0057 a0032c0045 a0034c0047 a0035c0036	a0001c0028t0015 a0001c0029t0048 a0002c0002t0003 others(16): Show a0001c0028t0015 a0001c0029t0048 a0002c0002t0003 a0003c0003t0009 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0040 a0007c0009t0035 a0007c0009t0049 a0009c0025t0033 a0010c0010t0006 a0022c0019t0001 a0029c0057t0001 a0032c0045t0018 a0034c0047t0002 a0035c0036t0007	a0001c0028t0015g0017 a0001c0029t0048g0031 a0002c0002t0003g0133 others(19): Show a0001c0028t0015g0017 a0001c0029t0048g0031 a0002c0002t0003g0133 a0003c0003t0009g0055 a0005c0006t0003g0006 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0137 a0006c0008t0040g0154 a0007c0009t0035g0018 a0007c0009t0049g0005 a0009c0025t0033g0165 a0010c0010t0006g0112 a0022c0019t0001g0127 a0029c0057t0001g0016 a0032c0045t0018g0059 a0034c0047t0002g0029 a0035c0036t0007g0019	22	182	0.1209	-6	c.-36 others(25): Show c.-361+8002_-361+8007delAGTGAG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581195	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0001 a0009 a0001 a0009	a0001c0052 a0009c0025 a0001c0052 a0009c0025	a0001c0052t0047 a0009c0025t0031 a0001c0052t0047 a0009c0025t0031	a0001c0052t0047g0060 a0009c0025t0031g0058 a0001c0052t0047g0060 a0009c0025t0031g0058	2	182	0.0110	-6	c.-36 others(25): Show c.-361+4579_-361+4584delCACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581220	TGTGTGC TGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG02896.hp2 others(1): Show HG01074.hp1 HG01109.hp2 HG02896.hp2 NA18522.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0033	a0002c0002 a0003c0051 a0007c0009 others(1): Show a0002c0002 a0003c0051 a0007c0009 a0033c0044	a0002c0002t0010 a0003c0051t0010 a0007c0009t0002 others(1): Show a0002c0002t0010 a0003c0051t0010 a0007c0009t0002 a0033c0044t0024	a0002c0002t0010g0015 a0003c0051t0010g0173 a0007c0009t0002g0164 others(1): Show a0002c0002t0010g0015 a0003c0051t0010g0173 a0007c0009t0002g0164 a0033c0044t0024g0048	4	182	0.0220	-6	c.-36 others(25): Show c.-361+4554_-361+4559delGCACAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584243	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG01361.hp1 others(2): Show HG00642.hp2 HG01261.hp2 HG01361.hp1 HG02451.hp2 HG02809.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0031	a0001c0029 a0002c0002 a0009c0016 others(1): Show a0001c0029 a0002c0002 a0009c0016 a0031c0048	a0001c0029t0039 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0029t0039 a0002c0002t0001 a0002c0002t0003 a0009c0016t0001 a0031c0048t0042	a0001c0029t0039g0041 a0002c0002t0001g0071 a0002c0002t0003g0061 others(2): Show a0001c0029t0039g0041 a0002c0002t0001g0071 a0002c0002t0003g0061 a0009c0016t0001g0034 a0031c0048t0042g0026	5	182	0.0275	-6	c.-36 others(25): Show c.-361+1531_-361+1536delGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16593858	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02258.hp1 others(4): Show HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG03209.hp1 NA19240.hp1	a0001 a0005 a0009 others(3): Show a0001 a0005 a0009 a0010 a0018 a0038	a0001c0028 a0005c0006 a0009c0042 others(3): Show a0001c0028 a0005c0006 a0009c0042 a0010c0010 a0018c0054 a0038c0033	a0001c0028t0015 a0005c0006t0003 a0009c0042t0011 others(3): Show a0001c0028t0015 a0005c0006t0003 a0009c0042t0011 a0010c0010t0006 a0018c0054t0001 a0038c0033t0002	a0001c0028t0015g0017 a0005c0006t0003g0051 a0005c0006t0003g0114 others(4): Show a0001c0028t0015g0017 a0005c0006t0003g0051 a0005c0006t0003g0114 a0009c0042t0011g0047 a0010c0010t0006g0113 a0018c0054t0001g0115 a0038c0033t0002g0004	7	182	0.0385	-6	c.-48 others(25): Show c.-488-7957_-488-7952delATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16620262	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01070.hp2 others(4): Show HG00642.hp2 HG01070.hp1 HG01070.hp2 HG02615.hp1 HG02896.hp1 HG03688.hp1 NA19030.hp1	a0003 a0005 a0006 others(4): Show a0003 a0005 a0006 a0009 a0012 a0019 a0022	a0003c0003 a0005c0006 a0006c0046 others(4): Show a0003c0003 a0005c0006 a0006c0046 a0009c0016 a0012c0011 a0019c0026 a0022c0019	a0003c0003t0013 a0005c0006t0003 a0006c0046t0001 others(4): Show a0003c0003t0013 a0005c0006t0003 a0006c0046t0001 a0009c0016t0001 a0012c0011t0004 a0019c0026t0019 a0022c0019t0001	a0003c0003t0013g0033 a0005c0006t0003g0006 a0006c0046t0001g0012 others(4): Show a0003c0003t0013g0033 a0005c0006t0003g0006 a0006c0046t0001g0012 a0009c0016t0001g0034 a0012c0011t0004g0161 a0019c0026t0019g0001 a0022c0019t0001g0025	7	182	0.0385	-6	c.-48 others(27): Show c.-488-34361_-488-34356delGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16624354	GAAAAAA GAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp1 HG01169.hp1 others(2): Show HG01070.hp1 HG01168.hp1 HG01169.hp1 HG04115.hp2 NA20752.hp1	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0003c0003 a0019c0026 a0001c0001 a0003c0003 a0019c0026	a0001c0001t0001 a0001c0001t0044 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0044 a0003c0003t0001 a0019c0026t0019	a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0044g0118 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0044g0118 a0003c0003t0001g0180 a0019c0026t0019g0001	5	182	0.0275	-6	c.-48 others(27): Show c.-489+33416_-489+33421delTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp1 others(48): Show HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG02004.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03492.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0017 a0021 a0022 a0023 a0024 a0026 a0029 a0030 a0032	a0001c0001 a0001c0052 a0002c0002 others(28): Show a0001c0001 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0041 a0006c0008 a0006c0043 a0007c0009 a0007c0059 a0008c0012 a0009c0016 a0009c0042 a0011c0007 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0017c0022 a0017c0040 a0021c0021 a0022c0019 a0023c0035 a0024c0018 a0026c0061 a0029c0057 a0030c0058 a0032c0045	a0001c0001t0001 a0001c0001t0020 a0001c0052t0047 others(40): Show a0001c0001t0001 a0001c0001t0020 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0016 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0037 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0041t0001 a0006c0008t0010 a0006c0008t0011 a0006c0043t0010 a0007c0009t0002 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0009c0016t0028 a0009c0042t0011 a0011c0007t0003 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0014c0017t0004 a0017c0022t0001 a0017c0040t0007 a0021c0021t0014 a0022c0019t0001 a0023c0035t0001 a0024c0018t0012 a0026c0061t0036 a0029c0057t0001 a0030c0058t0018 a0032c0045t0018	a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0020g0002 others(48): Show a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0020g0002 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0007g0136 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0004t0001g0046 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0017g0179 a0003c0003t0001g0039 a0003c0003t0001g0049 a0003c0003t0037g0150 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0041t0001g0156 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0043t0010g0128 a0007c0009t0002g0028 a0007c0009t0002g0126 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0091 a0008c0012t0005g0168 a0009c0016t0028g0141 a0009c0042t0011g0047 a0011c0007t0003g0066 a0012c0011t0004g0086 a0013c0013t0005g0100 a0013c0013t0016g0153 a0013c0038t0034g0139 a0014c0017t0004g0044 a0017c0022t0001g0146 a0017c0040t0007g0022 a0021c0021t0014g0082 a0022c0019t0001g0127 a0023c0035t0001g0064 a0024c0018t0012g0148 a0026c0061t0036g0095 a0029c0057t0001g0016 a0030c0058t0018g0054 a0032c0045t0018g0059	51	182	0.2802	-6	c.-61 others(27): Show c.-614-29762_-614-29757delGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16692656	CAACAAA CAACAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(36): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02056.hp2 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02895.hp2 HG03225.hp1 HG03453.hp2 HG04199.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18973.hp1 NA19007.hp2 NA19009.hp2 NA19060.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0025 a0028 a0031 a0036 a0037	a0001c0001 a0001c0027 a0002c0002 others(20): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0005c0006 a0009c0016 a0010c0039 a0011c0007 a0012c0011 a0013c0013 a0014c0017 a0015c0030 a0017c0022 a0025c0062 a0028c0053 a0031c0048 a0036c0037 a0037c0032	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(27): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0027t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0004t0001 a0003c0003t0001 a0003c0003t0021 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0031t0002 a0005c0006t0006 a0009c0016t0007 a0010c0039t0001 a0011c0007t0002 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0017c0022t0001 a0025c0062t0038 a0028c0053t0004 a0031c0048t0042 a0036c0037t0001 a0037c0032t0002	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0159 others(36): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0001t0029g0145 a0001c0027t0001g0107 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0138 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0004t0001g0073 a0002c0004t0001g0174 a0002c0004t0001g0182 a0003c0003t0001g0042 a0003c0003t0021g0003 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0023t0002g0035 a0004c0031t0002g0101 a0005c0006t0006g0010 a0009c0016t0007g0151 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0169 a0012c0011t0004g0144 a0012c0011t0023g0023 a0013c0013t0005g0036 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0017c0022t0001g0104 a0025c0062t0038g0087 a0028c0053t0004g0065 a0031c0048t0042g0026 a0036c0037t0001g0117 a0037c0032t0002g0170	39	182	0.2143	-6	c.-61 others(27): Show c.-614-34761_-614-34756delTTTGTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar

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