Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115561690	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0117 a0001c0001t0036g0117	1	128	0.0078	16	c.379 others(37): Show c.3795+12167_3795+12168insTGTGTGTGTGTGTGTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115598348	A A	AATTTATT others(9): Show AATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp1 others(37): Show HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG02015.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(21): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0042 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0015 a0001c0003t0037 a0001c0003t0038 a0001c0003t0041 a0001c0005t0021 a0001c0006t0009 a0001c0009t0005 a0001c0012t0001	a0001c0001t0002g0015 a0001c0001t0008g0014 a0001c0001t0010g0034 others(37): Show a0001c0001t0002g0015 a0001c0001t0008g0014 a0001c0001t0010g0034 a0001c0001t0013g0019 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0042g0095 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0103 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0086 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0004g0042 a0001c0003t0015g0108 a0001c0003t0037g0121 a0001c0003t0038g0106 a0001c0003t0041g0047 a0001c0005t0021g0007 a0001c0006t0009g0038 a0001c0009t0005g0059 a0001c0012t0001g0071	40	128	0.3125	16	c.379 others(37): Show c.3795+48813_3795+48814insTTTATTTATTTATTTA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(9): Show TATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0094 a0001c0001t0043g0094	1	128	0.0078	16	c.379 others(37): Show c.3795+71741_3795+71742insTATATATATATATAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713449	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01123.hp2 others(7): Show HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG02622.hp1 HG03239.hp2 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013	a0001c0001t0015 a0001c0001t0022 a0001c0002t0005 others(2): Show a0001c0001t0015 a0001c0001t0022 a0001c0002t0005 a0001c0006t0009 a0001c0013t0009	a0001c0001t0015g0064 a0001c0001t0022g0032 a0001c0002t0005g0037 others(7): Show a0001c0001t0015g0064 a0001c0001t0022g0032 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0006t0009g0038 a0001c0013t0009g0078	10	128	0.0781	16	c.379 others(37): Show c.3796-13784_3796-13783insTTGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713453	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0118 a0001c0001t0035g0118	1	128	0.0078	16	c.379 others(37): Show c.3796-13782_3796-13781insGTTTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713461	G G	GTGTGTTT others(9): Show GTGTGTTTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02145.hp2 others(10): Show HG00639.hp2 HG01891.hp2 HG02145.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 others(8): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0005t0007 a0001c0005t0021 a0001c0005t0032 a0001c0010t0006	a0001c0001t0002g0015 a0001c0001t0011g0112 a0001c0001t0013g0019 others(10): Show a0001c0001t0002g0015 a0001c0001t0011g0112 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0010t0006g0087	13	128	0.1016	16	c.379 others(37): Show c.3796-13772_3796-13771insATGTGTTTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713675	T T	TTCTATCT others(9): Show TTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp2 HG02055.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0014 a0001c0001t0010g0034 a0001c0001t0008g0014 a0001c0001t0010g0034	2	128	0.0156	16	c.379 others(37): Show c.3796-13558_3796-13543dupTATCTATCTATCTATC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713705	C C	CTATCTAT others(9): Show CTATCTATCATCTATCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0075 a0001c0001t0029g0075	1	128	0.0078	16	c.379 others(37): Show c.3796-13543_3796-13542insTATCTATCATCTATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713705	C C	CTATCTAT others(9): Show CTATCTATCTATCATCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 HG04115.hp1 HG02809.hp2 HG03579.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0015 a0001c0003t0038 a0001c0001t0003 a0001c0003t0015 a0001c0003t0038	a0001c0001t0003g0104 a0001c0003t0015g0108 a0001c0003t0038g0106 a0001c0001t0003g0104 a0001c0003t0015g0108 a0001c0003t0038g0106	3	128	0.0234	16	c.379 others(37): Show c.3796-13543_3796-13542insTATCTATCTATCATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115723534	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01081.hp2 others(25): Show HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18959.hp1 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19043.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0046 a0001c0003t0003 a0001c0003t0031 a0001c0003t0037 a0001c0010t0006 a0001c0016t0003	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0069 others(25): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0002g0123 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0093 a0001c0001t0006g0100 a0001c0001t0008g0079 a0001c0001t0009g0122 a0001c0001t0010g0018 a0001c0001t0011g0112 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0023g0022 a0001c0001t0025g0021 a0001c0001t0046g0099 a0001c0003t0003g0049 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0010t0006g0087 a0001c0016t0003g0097	28	128	0.2188	16	c.379 others(35): Show c.3796-3700_3796-3685dupATTTATTTATTTATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738125	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0087 a0001c0010t0006g0087	1	128	0.0078	16	c.390 others(37): Show c.3903+10770_3903+10771insTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19003.hp1 NA18994.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0046 a0001c0001t0006 a0001c0001t0046	a0001c0001t0006g0109 a0001c0001t0046g0099 a0001c0001t0006g0109 a0001c0001t0046g0099	2	128	0.0156	16	c.390 others(37): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772593	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03834.hp1 HG01943.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0003g0074 a0001c0001t0001g0098 a0001c0001t0003g0074	2	128	0.0156	16	c.390 others(37): Show c.3903+45241_3903+45242insGTGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115788382	T T	TTTTTCTT others(9): Show TTTTTCTTTATAAAGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp2 others(18): Show HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01109.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03471.hp1 NA18906.hp2 NA18994.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0012 a0002c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0042 a0001c0001t0048 a0001c0003t0014 a0001c0005t0007 a0001c0005t0018 a0001c0005t0032 a0001c0007t0027 a0001c0012t0001 a0002c0008t0011	a0001c0001t0002g0015 a0001c0001t0002g0113 a0001c0001t0002g0114 others(18): Show a0001c0001t0002g0015 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0006g0109 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0013g0019 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0026g0010 a0001c0001t0042g0095 a0001c0001t0048g0107 a0001c0003t0014g0089 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0032g0005 a0001c0007t0027g0006 a0001c0012t0001g0071 a0002c0008t0011g0073	21	128	0.1641	16	c.390 others(37): Show c.3904-59494_3904-59493insTTTCTTTATAAAGCCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802021	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0047 a0001c0001t0002 a0001c0003t0047	a0001c0001t0002g0015 a0001c0003t0047g0128 a0001c0001t0002g0015 a0001c0003t0047g0128	2	128	0.0156	16	c.390 others(37): Show c.3904-45846_3904-45831dupCACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115815415	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	128	0.0078	16	c.390 others(37): Show c.3904-32440_3904-32425dupGTGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04115.hp1 HG02055.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0104 a0001c0001t0008g0082 a0001c0001t0003g0104 a0001c0001t0008g0082	2	128	0.0156	16	c.401 others(37): Show c.4018+20841_4018+20856dupTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0180 a0001c0006t0020g0180	1	220	0.0046	16	c.410 others(35): Show c.410+14107_410+14122dupTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02615.hp2 others(2): Show HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0012 a0002c0004 a0002c0012	a0002c0004t0004 a0002c0012t0012 a0002c0012t0019 a0002c0004t0004 a0002c0012t0012 a0002c0012t0019	a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 others(2): Show a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0012t0012g0158 a0002c0012t0019g0157	5	220	0.0227	16	c.411 others(35): Show c.411-16233_411-16232insAAAAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554990	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0218 a0001c0003t0031g0218	1	220	0.0046	16	c.111 others(35): Show c.1113-4388_1113-4373dupTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTATCT others(9): Show GTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0189 a0001c0005t0038g0189	1	220	0.0046	16	c.221 others(33): Show c.2215-140_2215-125dupATCTATCTATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(9): Show GTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp2 HG00639.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0031 a0001c0002t0006g0099 a0001c0001t0001g0031 a0001c0002t0006g0099	2	220	0.0091	16	c.221 others(33): Show c.2215-161_2215-160insGTCTATCTATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(9): Show GTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00738.hp2 others(45): Show HG00438.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02717.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18952.hp2 NA18955.hp1 NA18985.hp2 NA18994.hp1 NA19043.hp1 NA19063.hp1 NA19064.hp2 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0014 a0004c0011 a0014c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0021 a0001c0007t0006 a0001c0013t0026 a0001c0014t0015 a0004c0011t0008 a0014c0026t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(45): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0002g0012 a0001c0001t0002g0086 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0144 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0019g0129 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0058 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0176 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0004g0055 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0006g0018 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0006g0067 a0001c0002t0008g0142 a0001c0002t0021g0004 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0013t0026g0169 a0001c0014t0015g0001 a0004c0011t0008g0168 a0014c0026t0001g0032	48	220	0.2182	16	c.221 others(33): Show c.2215-161_2215-160insGTCTGTCTATCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTGTCT others(9): Show GTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG02015.hp1 others(7): Show HG00099.hp2 HG01169.hp1 HG02015.hp1 HG02109.hp1 HG02145.hp1 HG02615.hp1 HG02647.hp1 NA18612.hp1 NA18747.hp1 NA18966.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0016 others(1): Show a0001c0001 a0001c0002 a0004c0016 a0006c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0002t0032 a0004c0016t0015 a0006c0010t0005	a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0005g0036 others(7): Show a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0005g0036 a0001c0001t0005g0061 a0001c0001t0010g0025 a0001c0001t0012g0208 a0001c0001t0013g0136 a0001c0002t0032g0033 a0004c0016t0015g0166 a0006c0010t0005g0127	10	220	0.0455	16	c.221 others(33): Show c.2215-161_2215-160insGTCTGTCTGTCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77556211	A A	AAGGGAGA others(9): Show AAGGGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01975.hp2 HG02015.hp1 others(14): Show HG00558.hp1 HG01975.hp2 HG02015.hp1 HG02257.hp1 HG02257.hp2 HG02698.hp1 HG02717.hp1 HG03239.hp2 HG03579.hp1 HG04204.hp1 NA18906.hp2 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA19007.hp1 NA19074.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0010t0006	a0001c0001t0001g0096 a0001c0001t0002g0142 a0001c0001t0002g0178 others(14): Show a0001c0001t0001g0096 a0001c0001t0002g0142 a0001c0001t0002g0178 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0196 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0205 a0001c0001t0004g0218 a0001c0001t0011g0001 a0001c0001t0017g0183 a0001c0001t0018g0193 a0001c0010t0006g0197	17	218	0.0780	16	c.669 others(35): Show c.6699+1224_6699+1239dupCTCTCCCTCTCTCCCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18986.hp1 HG01099.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0049 a0002c0002t0001g0022 a0002c0002t0001g0049	2	218	0.0092	16	c.621 others(35): Show c.6217+4235_6217+4250dupTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19066.hp1 NA18985.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0100 a0001c0001t0006g0214 a0001c0001t0002g0100 a0001c0001t0006g0214	2	218	0.0092	16	c.455 others(33): Show c.4557+881_4557+896dupTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(9): Show AAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	218	0.0046	16	c.380 others(35): Show c.3809+5058_3809+5059insATATATATATATATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77767236	G G	GGAGAGGG others(9): Show GGAGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	218	0.0046	16	c.20+ others(33): Show c.20+18730_20+18745dupTCCCTCTCTCCCTCTC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	218	0.0046	16	c.-49 others(27): Show c.-4934_-4933insTATATATATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(9): Show CTATAAATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01070.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG01070.hp2 HG01106.hp1 HG01257.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02083.hp1 HG02145.hp1 HG02602.hp1 HG02735.hp1 HG03195.hp1 HG03688.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA19001.hp2 NA19056.hp1 NA19074.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0016	a0001c0001t0002g0184 a0001c0001t0003g0164 a0001c0001t0004g0205 others(18): Show a0001c0001t0002g0184 a0001c0001t0003g0164 a0001c0001t0004g0205 a0001c0001t0017g0183 a0002c0002t0001g0018 a0002c0002t0001g0034 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0110 a0002c0002t0003g0021 a0002c0002t0006g0207 a0002c0002t0013g0008 a0002c0002t0016g0046	21	218	0.0963	16	c.-49 others(27): Show c.-4990_-4989insTATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0200 a0001c0008t0001g0200	1	322	0.0031	16	c.622 others(35): Show c.6222-1918_6222-1903dupCACACACACACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(9): Show CATTATATATATATACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02818.hp1 others(3): Show HG02055.hp1 HG02109.hp1 HG02818.hp1 HG02886.hp2 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0104 a0001c0008t0001g0198 a0001c0008t0001g0199 others(3): Show a0001c0001t0001g0104 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0202	6	322	0.0186	16	c.589 others(31): Show c.5898+82_5898+83insTGTATATATATATAAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142497573	T T	TAATAAAT others(9): Show TAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02109.hp1 others(3): Show HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02886.hp2 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 others(3): Show a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0202	6	322	0.0186	16	c.555 others(33): Show c.5559-397_5559-382dupTATTTATTTATTTATT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	32/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20129.hp1 HG03471.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0009 a0001c0004 a0004c0009	a0001c0004t0001 a0004c0009t0001 a0001c0004t0001 a0004c0009t0001	a0001c0004t0001g0150 a0004c0009t0001g0151 a0001c0004t0001g0150 a0004c0009t0001g0151	2	322	0.0062	16	c.438 others(35): Show c.4383-1485_4383-1470dupATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02970.hp1 HG02976.hp1 HG01123.hp2 HG02970.hp1 HG02976.hp1	a0001 a0010 a0001 a0010	a0001c0006 a0010c0014 a0001c0006 a0010c0014	a0001c0006t0001 a0010c0014t0001 a0001c0006t0001 a0010c0014t0001	a0001c0006t0001g0008 a0001c0006t0001g0009 a0010c0014t0001g0031 a0001c0006t0001g0008 a0001c0006t0001g0009 a0010c0014t0001g0031	3	322	0.0093	16	c.394 others(35): Show c.3946-4671_3946-4656dupATATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0006 a0001c0006t0001g0006	1	322	0.0031	16	c.394 others(35): Show c.3946-4681_3946-4680insAATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19085.hp1 HG01361.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0140 a0001c0001t0001g0094 a0001c0001t0001g0140	2	322	0.0062	16	c.335 others(35): Show c.3358-1711_3358-1696dupTTTTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04199.hp2 NA18954.hp2 HG03209.hp2 HG04199.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0176 a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0176	3	316	0.0095	16	c.729 others(33): Show c.729-2064_729-2049dupATCTATCTATCTATCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740719	C C	CACACACA others(9): Show CACACACACACATACAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	316	0.0032	16	c.117 others(33): Show c.1173+182_1173+183insCACACACACATACATA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(9): Show AAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	316	0.0032	16	c.117 others(37): Show c.1173+11227_1173+11228insAAAAAAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45773445	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	316	0.0032	16	c.117 others(37): Show c.1173+32922_1173+32937dupATTTATTTATTTATTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18960.hp1 NA18973.hp2 HG04115.hp1 NA18960.hp1 NA18973.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0004 a0004c0023 a0008c0024 a0002c0004 a0004c0023 a0008c0024	a0002c0004t0001 a0004c0023t0009 a0008c0024t0001 a0002c0004t0001 a0004c0023t0009 a0008c0024t0001	a0002c0004t0001g0084 a0004c0023t0009g0110 a0008c0024t0001g0074 a0002c0004t0001g0084 a0004c0023t0009g0110 a0008c0024t0001g0074	3	182	0.0165	16	c.191 others(35): Show c.1918-1479_1918-1464dupTGTGTGTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0007 a0017c0040t0007	a0017c0040t0007g0022 a0017c0040t0007g0022	1	182	0.0055	16	c.191 others(35): Show c.1917+9513_1917+9528dupAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp2 HG06807.hp1 HG06807.hp2	a0009 a0029 a0009 a0029	a0009c0025 a0029c0057 a0009c0025 a0029c0057	a0009c0025t0031 a0029c0057t0001 a0009c0025t0031 a0029c0057t0001	a0009c0025t0031g0058 a0029c0057t0001g0016 a0009c0025t0031g0058 a0029c0057t0001g0016	2	182	0.0110	16	c.-16 others(37): Show c.-160-66816_-160-66801dupTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp1 others(19): Show HG00140.hp1 HG00140.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02886.hp1 HG02965.hp1 HG03209.hp1 HG03688.hp1 HG04115.hp2 NA20752.hp1	a0001 a0003 a0006 others(9): Show a0001 a0003 a0006 a0007 a0010 a0012 a0014 a0015 a0019 a0028 a0030 a0036	a0001c0001 a0001c0028 a0003c0003 others(11): Show a0001c0001 a0001c0028 a0003c0003 a0006c0008 a0006c0043 a0007c0009 a0010c0010 a0012c0011 a0014c0017 a0015c0030 a0019c0026 a0028c0053 a0030c0058 a0036c0037	a0001c0001t0001 a0001c0001t0044 a0001c0028t0015 others(16): Show a0001c0001t0001 a0001c0001t0044 a0001c0028t0015 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0006c0008t0011 a0006c0043t0010 a0007c0009t0002 a0010c0010t0006 a0012c0011t0004 a0014c0017t0004 a0015c0030t0004 a0019c0026t0001 a0019c0026t0019 a0028c0053t0004 a0030c0058t0018 a0036c0037t0001	a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0044g0118 others(19): Show a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0044g0118 a0001c0028t0015g0017 a0003c0003t0001g0180 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0013g0027 a0003c0003t0013g0033 a0006c0008t0011g0053 a0006c0043t0010g0128 a0007c0009t0002g0028 a0010c0010t0006g0052 a0012c0011t0004g0086 a0012c0011t0004g0161 a0014c0017t0004g0044 a0015c0030t0004g0032 a0019c0026t0001g0098 a0019c0026t0019g0001 a0028c0053t0004g0065 a0030c0058t0018g0054 a0036c0037t0001g0117	22	182	0.1209	16	c.-16 others(37): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0091 a0008c0012t0005g0091	1	182	0.0055	16	c.-16 others(33): Show c.-161+980_-161+981insTACACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(9): Show TATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(7): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG02300.hp2 HG02886.hp1 HG02895.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0018 a0029 a0030	a0001c0001 a0001c0027 a0001c0029 others(6): Show a0001c0001 a0001c0027 a0001c0029 a0003c0003 a0005c0006 a0006c0043 a0018c0056 a0029c0057 a0030c0058	a0001c0001t0011 a0001c0027t0001 a0001c0029t0039 others(6): Show a0001c0001t0011 a0001c0027t0001 a0001c0029t0039 a0003c0003t0022 a0005c0006t0003 a0006c0043t0010 a0018c0056t0007 a0029c0057t0001 a0030c0058t0018	a0001c0001t0011g0131 a0001c0027t0001g0024 a0001c0029t0039g0041 others(7): Show a0001c0001t0011g0131 a0001c0027t0001g0024 a0001c0029t0039g0041 a0003c0003t0022g0119 a0005c0006t0003g0051 a0005c0006t0003g0057 a0006c0043t0010g0128 a0018c0056t0007g0011 a0029c0057t0001g0016 a0030c0058t0018g0054	10	182	0.0550	16	c.-36 others(35): Show c.-360-3377_-360-3376insGTGTATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0033 a0009c0025t0033	a0009c0025t0033g0165 a0009c0025t0033g0165	1	182	0.0055	16	c.-36 others(35): Show c.-360-3377_-360-3376insGTATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581195	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0027 a0027	a0027c0049 a0027c0049	a0027c0049t0003 a0027c0049t0003	a0027c0049t0003g0149 a0027c0049t0003g0149	1	182	0.0055	16	c.-36 others(35): Show c.-361+4569_-361+4584dupCACACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar

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