Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115683548	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00741.hp2 others(22): Show HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01515.hp2 HG01943.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp2 HG03540.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18957.hp2 NA18959.hp1 NA18994.hp2 NA19003.hp1 NA19011.hp2 NA19070.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0012 others(2): Show a0001c0001 a0001c0003 a0001c0012 a0001c0016 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0046 a0001c0003t0003 a0001c0003t0037 a0001c0012t0001 a0001c0016t0003 a0002c0014t0009	a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0069 others(22): Show a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0017 a0001c0001t0002g0123 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0093 a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0008g0023 a0001c0001t0008g0079 a0001c0001t0010g0018 a0001c0001t0046g0099 a0001c0003t0003g0049 a0001c0003t0037g0121 a0001c0012t0001g0071 a0001c0016t0003g0097 a0002c0014t0009g0072	25	128	0.1953	6	c.379 others(27): Show c.3796-43689_3796-43684dupTTTTTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115696870	C C	CGAGAGA CGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01891.hp1 others(7): Show HG00735.hp2 HG00738.hp2 HG01891.hp1 HG02896.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(6): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0005t0018 a0001c0010t0006	a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0011g0112 others(7): Show a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0011g0112 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0036g0117 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0005t0018g0003 a0001c0010t0006g0087	10	128	0.0781	6	c.379 others(27): Show c.3796-30354_3796-30349dupAGAGAG		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115729495	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02280.hp2 HG02572.hp1 HG01943.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0001t0048 a0001c0003t0002 a0001c0001t0008 a0001c0001t0048 a0001c0003t0002	a0001c0001t0008g0023 a0001c0001t0048g0107 a0001c0003t0002g0081 a0001c0001t0008g0023 a0001c0001t0048g0107 a0001c0003t0002g0081	3	128	0.0234	6	c.390 others(25): Show c.3903+2176_3903+2181dupGTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740821	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp2 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0022 a0001c0001t0043	a0001c0001t0022g0032 a0001c0001t0043g0094 a0001c0001t0022g0032 a0001c0001t0043g0094	2	128	0.0156	6	c.390 others(27): Show c.3903+13494_3903+13499dupCACACA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115743238	T T	TAAAAAA TAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp2 HG02622.hp1 others(3): Show HG00738.hp1 HG02145.hp2 HG02622.hp1 HG03195.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0002t0001 a0001c0005t0007	a0001c0001t0001g0096 a0001c0001t0013g0019 a0001c0001t0014g0001 others(3): Show a0001c0001t0001g0096 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0022g0032 a0001c0002t0001g0041 a0001c0005t0007g0002	6	128	0.0469	6	c.390 others(27): Show c.3903+15895_3903+15900dupAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772593	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19240.hp1 HG01071.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0015 a0002c0014t0009 a0001c0001t0015 a0002c0014t0009	a0001c0001t0015g0064 a0002c0014t0009g0072 a0001c0001t0015g0064 a0002c0014t0009g0072	2	128	0.0156	6	c.390 others(27): Show c.3903+45241_3903+45242insGTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772597	C C	CTGTGTG CTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 NA18994.hp1 others(4): Show HG02258.hp2 HG02818.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0002t0004 a0001c0003t0045 a0001c0001t0008 a0001c0002t0004 a0001c0003t0045	a0001c0001t0008g0030 a0001c0002t0004g0039 a0001c0002t0004g0054 others(4): Show a0001c0001t0008g0030 a0001c0002t0004g0039 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0003t0045g0090	7	128	0.0547	6	c.390 others(27): Show c.3903+45272_3903+45277dupGTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115815415	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01123.hp2 others(25): Show HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02132.hp2 HG02300.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG03239.hp2 HG03486.hp2 HG03834.hp2 NA18957.hp1 NA18957.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0006t0009 a0001c0006t0013 a0001c0007t0030 a0001c0011t0002 a0001c0013t0009	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0091 others(25): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0003g0074 a0001c0001t0011g0119 a0001c0001t0016g0031 a0001c0002t0001g0045 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0057 a0001c0002t0028g0076 a0001c0003t0001g0083 a0001c0003t0002g0081 a0001c0003t0004g0042 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0007t0030g0008 a0001c0011t0002g0116 a0001c0013t0009g0078	28	128	0.2188	6	c.390 others(27): Show c.3904-32430_3904-32425dupGTGTGT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp2 HG02559.hp1 others(4): Show HG01515.hp2 HG01891.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp2 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0002t0006 a0001c0003t0038	a0001c0001t0002g0015 a0001c0001t0002g0123 a0001c0001t0014g0001 others(4): Show a0001c0001t0002g0015 a0001c0001t0002g0123 a0001c0001t0014g0001 a0001c0001t0015g0064 a0001c0001t0023g0022 a0001c0002t0006g0086 a0001c0003t0038g0106	7	128	0.0547	6	c.401 others(25): Show c.4018+8454_4018+8459dupAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3484909	A A	AATTATT AATTATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp2 others(14): Show HG00735.hp1 HG00735.hp2 HG01070.hp2 HG02015.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA18994.hp2 NA19043.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0002t0006 a0001c0002t0008 a0001c0003t0002 a0001c0003t0007 a0001c0003t0031 a0001c0006t0020 a0001c0013t0017	a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0001t0001g0163 others(14): Show a0001c0001t0001g0042 a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0002g0144 a0001c0001t0010g0025 a0001c0001t0015g0005 a0001c0002t0006g0164 a0001c0002t0008g0130 a0001c0002t0008g0131 a0001c0002t0008g0132 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0007g0179 a0001c0003t0031g0218 a0001c0006t0020g0180 a0001c0013t0017g0149	17	220	0.0773	6	c.410 others(25): Show c.410+13426_410+13431dupATTATT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3485610	G G	GTTTTTT GTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01891.hp1 others(8): Show HG01123.hp2 HG01243.hp2 HG01891.hp1 HG02486.hp2 HG02602.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03579.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0004c0011 a0009c0019 a0009c0020	a0001c0001t0005 a0001c0003t0002 a0001c0003t0007 others(6): Show a0001c0001t0005 a0001c0003t0002 a0001c0003t0007 a0001c0005t0007 a0001c0006t0003 a0001c0014t0002 a0004c0011t0008 a0009c0019t0004 a0009c0020t0014	a0001c0001t0005g0175 a0001c0003t0002g0215 a0001c0003t0002g0216 others(8): Show a0001c0001t0005g0175 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0007g0188 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0014t0002g0174 a0004c0011t0008g0168 a0009c0019t0004g0210 a0009c0020t0014g0209	11	220	0.0500	6	c.410 others(25): Show c.410+14117_410+14122dupTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492168	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(68): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18985.hp2 NA18994.hp1 NA19030.hp2 NA19063.hp1 NA19064.hp2 NA19082.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0009 a0013 a0014	a0001c0001 a0001c0002 a0003c0008 others(8): Show a0001c0001 a0001c0002 a0003c0008 a0003c0017 a0003c0018 a0004c0011 a0004c0016 a0007c0015 a0009c0020 a0013c0024 a0014c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0032 a0003c0008t0005 a0003c0017t0021 a0003c0018t0007 a0004c0011t0008 a0004c0016t0013 a0004c0016t0015 a0007c0015t0024 a0009c0020t0014 a0013c0024t0003 a0014c0026t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(68): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0120 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0010g0025 a0001c0001t0010g0096 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0034 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0058 a0001c0002t0003g0063 a0001c0002t0003g0075 a0001c0002t0003g0083 a0001c0002t0003g0089 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0004g0092 a0001c0002t0004g0097 a0001c0002t0006g0099 a0001c0002t0008g0081 a0001c0002t0008g0082 a0001c0002t0008g0132 a0001c0002t0008g0142 a0001c0002t0021g0004 a0001c0002t0022g0024 a0001c0002t0025g0090 a0001c0002t0032g0033 a0003c0008t0005g0197 a0003c0008t0005g0198 a0003c0017t0021g0199 a0003c0018t0007g0200 a0004c0011t0008g0168 a0004c0011t0008g0173 a0004c0016t0013g0167 a0004c0016t0015g0166 a0007c0015t0024g0137 a0009c0020t0014g0209 a0013c0024t0003g0054 a0014c0026t0001g0032	71	220	0.3227	6	c.410 others(25): Show c.410+20682_410+20687dupGTGTGT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492854	G G	GAGGCGC GAGGCGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19075.hp1 HG01358.hp2 NA19075.hp1	a0003 a0017 a0003 a0017	a0003c0017 a0017c0032 a0003c0017 a0017c0032	a0003c0017t0021 a0017c0032t0001 a0003c0017t0021 a0017c0032t0001	a0003c0017t0021g0199 a0017c0032t0001g0195 a0003c0017t0021g0199 a0017c0032t0001g0195	2	220	0.0091	6	c.410 others(25): Show c.410+21337_410+21338insAGGCGC		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28						chr20	TogoVar
ATRN_chr20_3466018_3656118	3492854	G G	GGCGCGC GGCGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG02015.hp2 others(16): Show HG01109.hp2 HG01496.hp1 HG02015.hp2 HG02145.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19064.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0011 others(2): Show a0001c0001 a0001c0002 a0004c0011 a0004c0016 a0007c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0004c0011t0008 a0004c0016t0015 a0007c0015t0024	a0001c0001t0001g0163 a0001c0001t0005g0175 a0001c0001t0010g0011 others(16): Show a0001c0001t0001g0163 a0001c0001t0005g0175 a0001c0001t0010g0011 a0001c0001t0010g0025 a0001c0001t0010g0145 a0001c0001t0012g0208 a0001c0001t0014g0010 a0001c0001t0019g0129 a0001c0002t0003g0135 a0001c0002t0003g0220 a0001c0002t0004g0092 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0006g0164 a0001c0002t0008g0035 a0001c0002t0008g0130 a0004c0011t0008g0173 a0004c0016t0015g0166 a0007c0015t0024g0137	19	220	0.0864	6	c.410 others(25): Show c.410+21345_410+21350dupCGCGCG		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3506057	G G	GACACAT GACACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02647.hp2 others(9): Show HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0015	a0001c0003 a0002c0004 a0005c0009 others(2): Show a0001c0003 a0002c0004 a0005c0009 a0011c0022 a0015c0021	a0001c0003t0010 a0001c0003t0035 a0002c0004t0011 others(4): Show a0001c0003t0010 a0001c0003t0035 a0002c0004t0011 a0002c0004t0016 a0005c0009t0004 a0011c0022t0004 a0015c0021t0034	a0001c0003t0010g0206 a0001c0003t0035g0205 a0002c0004t0011g0150 others(9): Show a0001c0003t0010g0206 a0001c0003t0035g0205 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0005c0009t0004g0006 a0005c0009t0004g0007 a0005c0009t0004g0008 a0011c0022t0004g0009 a0015c0021t0034g0204	12	220	0.0546	6	c.411 others(25): Show c.411-29172_411-29167dupTACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03098.hp1 others(1): Show HG01243.hp2 HG02145.hp2 HG03098.hp1 HG03130.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0001c0005 a0015c0021 a0001c0003 a0001c0005 a0015c0021	a0001c0003t0002 a0001c0005t0007 a0015c0021t0034 a0001c0003t0002 a0001c0005t0007 a0015c0021t0034	a0001c0003t0002g0214 a0001c0003t0002g0217 a0001c0005t0007g0213 others(1): Show a0001c0003t0002g0214 a0001c0003t0002g0217 a0001c0005t0007g0213 a0015c0021t0034g0204	4	220	0.0182	6	c.494 others(21): Show c.494+286_494+291dupCACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3535626	C C	CACACAT CACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01106.hp2 others(10): Show HG00140.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG02055.hp1 HG02886.hp1 HG03041.hp2 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0001c0005 a0001c0006 others(2): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0010c0023	a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 others(4): Show a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 a0001c0005t0038 a0001c0006t0004 a0001c0007t0003 a0010c0023t0007	a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0187 others(10): Show a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0192 a0001c0005t0038g0189 a0001c0006t0004g0177 a0001c0006t0004g0186 a0001c0007t0003g0185 a0001c0007t0003g0193 a0010c0023t0007g0182	13	220	0.0591	6	c.494 others(21): Show c.494+291_494+292insCACATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3544496	T T	TGTGGTG TGTGGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp2 others(7): Show HG01243.hp2 HG01891.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0001c0005 a0001c0006 others(2): Show a0001c0003 a0001c0005 a0001c0006 a0009c0019 a0009c0020	a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 others(3): Show a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0006t0003 a0009c0019t0004 a0009c0020t0014	a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(7): Show a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0031g0218 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0009c0019t0004g0210 a0009c0020t0014g0209	10	220	0.0455	6	c.609 others(23): Show c.609-1244_609-1239dupGTGGTG		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	3/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3609714	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG01884.hp1 others(6): Show HG00673.hp1 HG01071.hp2 HG01884.hp1 HG02293.hp2 HG03516.hp2 NA18959.hp1 NA18994.hp1 NA19064.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0006 a0001c0003t0037 a0001c0013t0017	a0001c0001t0002g0102 a0001c0001t0005g0080 a0001c0001t0009g0047 others(6): Show a0001c0001t0002g0102 a0001c0001t0005g0080 a0001c0001t0009g0047 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0002t0006g0067 a0001c0002t0006g0164 a0001c0003t0037g0194 a0001c0013t0017g0149	9	220	0.0409	6	c.380 others(25): Show c.3801+5484_3801+5489dupGTGTGT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77538230	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG02717.hp1 others(10): Show HG00558.hp1 HG02015.hp1 HG02717.hp1 HG02970.hp2 HG03225.hp1 HG03927.hp2 HG04204.hp1 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA19007.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0005t0005 a0001c0007t0005 a0001c0010t0006 a0002c0002t0001	a0001c0001t0001g0198 a0001c0001t0002g0142 a0001c0001t0004g0185 others(10): Show a0001c0001t0001g0198 a0001c0001t0002g0142 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0218 a0001c0001t0005g0135 a0001c0001t0018g0193 a0001c0005t0005g0076 a0001c0007t0005g0079 a0001c0010t0006g0197 a0002c0002t0001g0041	13	218	0.0596	6	c.670 others(27): Show c.6700-14835_6700-14830dupGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77563702	C C	CGTGTGT CGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG03831.hp1 others(1): Show HG01496.hp2 HG02280.hp2 HG03831.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0006c0008t0003	a0001c0001t0001g0198 a0001c0001t0002g0216 a0001c0001t0009g0002 others(1): Show a0001c0001t0001g0198 a0001c0001t0002g0216 a0001c0001t0009g0002 a0006c0008t0003g0203	4	218	0.0184	6	c.632 others(25): Show c.6327-4862_6327-4857dupACACAC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	28/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp1 HG03688.hp1 HG00642.hp1 HG01934.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0001g0042 a0002c0002t0002g0012 a0002c0004t0001g0055 a0002c0002t0001g0042 a0002c0002t0002g0012 a0002c0004t0001g0055	3	218	0.0138	6	c.621 others(25): Show c.6217+4245_6217+4250dupTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77634232	T T	TAAAAAA TAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0067	1	218	0.0046	6	c.480 others(23): Show c.4809+356_4809+361dupTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	17/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01517.hp1 others(8): Show HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02257.hp1 HG02280.hp1 HG02602.hp1 HG03579.hp1 NA18969.hp2 NA19058.hp1 NA19060.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0164 a0001c0001t0010g0083 a0002c0002t0002g0007 a0002c0002t0002g0057 a0002c0002t0006g0056	11	218	0.0505	6	c.455 others(23): Show c.4557+891_4557+896dupTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77659482	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	218	0.0046	6	c.412 others(25): Show c.4121-2835_4121-2830dupGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	12/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77659524	C C	CACACAG CACACAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp1 HG01069.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0001 a0001c0001t0003 a0001c0012t0001	a0001c0001t0003g0112 a0001c0012t0001g0111 a0001c0001t0003g0112 a0001c0012t0001g0111	2	218	0.0092	6	c.412 others(25): Show c.4121-2872_4121-2871insCTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	12/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77667295	A A	ATGTGTG ATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02056.hp1 HG03239.hp1 others(3): Show HG00323.hp2 HG02056.hp1 HG03239.hp1 HG03710.hp1 NA18960.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0101 a0001c0001t0002g0119 others(3): Show a0001c0001t0001g0149 a0001c0001t0002g0101 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0175 a0001c0001t0002g0181	6	218	0.0275	6	c.381 others(25): Show c.3810-2523_3810-2518dupCACACA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATAT AAAATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG04204.hp1 HG01070.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0013 a0001c0001t0004 a0002c0002t0013	a0001c0001t0004g0218 a0002c0002t0013g0008 a0001c0001t0004g0218 a0002c0002t0013g0008	2	218	0.0092	6	c.380 others(25): Show c.3809+5058_3809+5059insATATTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0068 a0001c0001t0007g0068	1	218	0.0046	6	c.380 others(25): Show c.3809+5053_3809+5058dupATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00673.hp1 others(28): Show HG00140.hp1 HG00558.hp2 HG00673.hp1 HG01257.hp2 HG01258.hp1 HG02083.hp1 HG02135.hp1 HG02280.hp2 HG02486.hp1 HG02922.hp1 HG03195.hp2 NA18612.hp1 NA18747.hp1 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18964.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0011 others(1): Show a0001c0001 a0002c0002 a0004c0011 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0004c0011t0002 a0006c0008t0003	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0132 others(28): Show a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0002g0071 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0199 a0001c0001t0003g0201 a0002c0002t0001g0034 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0209 a0004c0011t0002g0093 a0006c0008t0003g0203	31	218	0.1422	6	c.484 others(21): Show c.484+972_484+977dupACACAC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77710933	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	218	0.0046	6	c.133 others(23): Show c.133+6192_133+6197dupGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18994.hp1 NA19063.hp1 NA18947.hp1 NA18994.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0107 a0001c0001t0002g0156 a0001c0001t0002g0174	3	218	0.0138	6	c.133 others(23): Show c.133+1015_133+1020dupAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77737435	A A	AGGGGGG AGGGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	218	0.0046	6	c.21- others(23): Show c.21-20198_21-20193dupCCCCCC		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790926	A A	ATATGTG ATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0020 a0001c0001t0007 a0001c0001t0020	a0001c0001t0007g0068 a0001c0001t0020g0180 a0001c0001t0007g0068 a0001c0001t0020g0180	2	218	0.0092	6	c.-49 others(17): Show c.-4926_-4925insCACATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4711		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATA GTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01496.hp2 HG02129.hp1 others(6): Show HG00609.hp1 HG01496.hp2 HG02129.hp1 HG03831.hp1 NA18747.hp1 NA18947.hp1 NA18983.hp1 NA19009.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0145 others(6): Show a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0009g0002 a0001c0001t0014g0150	9	218	0.0413	6	c.-49 others(17): Show c.-4934_-4933insTATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4719		chrX	TogoVar
ATR_chr3_142444235_142583733	142447010	T T	TAAAAAA TAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01123.hp2 others(23): Show HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0004 a0001c0006 a0012c0021 a0001c0004 a0001c0006 a0012c0021	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0012c0021t0001	a0001c0004t0001g0147 a0001c0004t0001g0205 a0001c0004t0001g0206 others(23): Show a0001c0004t0001g0147 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0002g0003 a0001c0004t0002g0004 a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0021 a0012c0021t0001g0320	26	322	0.0808	6	c.24 others(17): Show c.2418_*2419insTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding					2224		chr3	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01496.hp1 others(18): Show HG00741.hp1 HG01074.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG02165.hp2 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG03540.hp2 HG03669.hp1 HG03831.hp1 NA18985.hp1 NA19012.hp1 NA19070.hp2 NA19087.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0002c0005t0001	a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0001g0097 others(18): Show a0001c0001t0001g0048 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0002g0003 a0001c0004t0002g0004 a0002c0005t0001g0282	21	322	0.0652	6	c.622 others(25): Show c.6222-1908_6222-1903dupCACACA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATA CATTATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02922.hp2 HG04115.hp1 HG02071.hp2 HG02922.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0088 a0001c0001t0001g0141 a0001c0006t0001g0017 a0001c0001t0001g0088 a0001c0001t0001g0141 a0001c0006t0001g0017	3	322	0.0093	6	c.589 others(21): Show c.5898+82_5898+83insTATAAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATA CTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp2 HG02056.hp2 others(2): Show HG00438.hp1 HG01361.hp2 HG02056.hp2 HG02148.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0212 a0002c0002t0001g0220 a0002c0002t0001g0278 others(2): Show a0002c0002t0001g0212 a0002c0002t0001g0220 a0002c0002t0001g0278 a0002c0002t0001g0295 a0002c0005t0001g0283	5	322	0.0155	6	c.589 others(21): Show c.5898+77_5898+82dupTATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02630.hp2 HG04228.hp2 others(3): Show HG00621.hp1 HG02630.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18963.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0018 a0006c0015 a0001c0001 a0002c0018 a0006c0015	a0001c0001t0001 a0002c0018t0001 a0006c0015t0001 a0001c0001t0001 a0002c0018t0001 a0006c0015t0001	a0001c0001t0001g0034 a0001c0001t0001g0108 a0001c0001t0001g0113 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 a0002c0018t0001g0145 a0006c0015t0001g0311	6	322	0.0186	6	c.438 others(25): Show c.4383-1475_4383-1470dupATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528875	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp1 HG02129.hp2 others(11): Show HG00597.hp1 HG02083.hp1 HG02129.hp2 HG02523.hp2 HG04184.hp1 NA18950.hp1 NA18951.hp2 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18987.hp2 NA19043.hp2 NA19070.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 others(11): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0144	14	322	0.0435	6	c.394 others(25): Show c.3946-4677_3946-4676insAAAAAA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528877	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01070.hp2 others(15): Show HG00280.hp1 HG00642.hp1 HG01070.hp2 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02027.hp2 HG02257.hp2 HG02300.hp2 HG02897.hp2 HG03688.hp1 HG03942.hp1 HG04199.hp1 NA18956.hp2 NA19057.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 others(15): Show a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089	18	322	0.0559	6	c.394 others(25): Show c.3946-4679_3946-4678insAAAAAA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTAT ATATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01099.hp2 others(24): Show HG00099.hp2 HG00735.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01891.hp2 HG02109.hp2 HG02523.hp2 HG02809.hp1 HG02895.hp2 HG03453.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp2 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA19056.hp1 NA19078.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0073 others(24): Show a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0195 a0001c0001t0001g0273 a0001c0001t0001g0295 a0001c0001t0002g0153 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181 a0001c0001t0005g0292 a0001c0001t0014g0076 a0002c0003t0001g0184	27	316	0.0854	6	c.895 others(23): Show c.895-3836_895-3831dupATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740679	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18939.hp1 NA18944.hp2 HG02056.hp2 NA18939.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0110 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0110	3	316	0.0095	6	c.117 others(23): Show c.1173+177_1173+182dupCACACA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45752565	T T	TTGGGGC TTGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18969.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0091 others(97): Show a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181 a0001c0001t0003g0308 a0001c0001t0004g0140 a0001c0001t0004g0225 a0001c0001t0004g0244 a0001c0001t0009g0133 a0001c0001t0014g0076 a0001c0001t0015g0239 a0001c0001t0017g0246	100	316	0.3165	6	c.117 others(27): Show c.1173+12054_1173+12059dupGGGCTG		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45766679	T T	TTTTATC TTTTATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02630.hp2 others(7): Show HG01891.hp2 HG02451.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0271 others(7): Show a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0005g0292 a0001c0001t0005g0293	10	316	0.0317	6	c.117 others(27): Show c.1173+26141_1173+26142insTTTATC		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11						chr22	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACA TCACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01978.hp2 others(6): Show HG00423.hp1 HG00597.hp1 HG01978.hp2 HG03492.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18957.hp2 NA18973.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0011 a0013 a0023	a0001c0027 a0002c0002 a0004c0005 others(4): Show a0001c0027 a0002c0002 a0004c0005 a0008c0024 a0011c0007 a0013c0013 a0023c0034	a0001c0027t0001 a0002c0002t0002 a0004c0005t0002 others(4): Show a0001c0027t0001 a0002c0002t0002 a0004c0005t0002 a0008c0024t0001 a0011c0007t0002 a0013c0013t0016 a0023c0034t0002	a0001c0027t0001g0107 a0002c0002t0002g0090 a0004c0005t0002g0177 others(6): Show a0001c0027t0001g0107 a0002c0002t0002g0090 a0004c0005t0002g0177 a0008c0024t0001g0143 a0011c0007t0002g0097 a0011c0007t0002g0169 a0011c0007t0002g0172 a0013c0013t0016g0153 a0023c0034t0002g0124	9	182	0.0495	6	c.191 others(25): Show c.1918-1469_1918-1464dupTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCTCACA TCTCACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp2 HG02135.hp2 others(4): Show HG00609.hp2 HG01346.hp2 HG02135.hp2 HG02809.hp2 HG04115.hp2 NA18986.hp1 NA19062.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0011c0007	a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 others(3): Show a0001c0001t0044 a0002c0002t0003 a0002c0002t0008 a0002c0002t0043 a0004c0005t0008 a0011c0007t0003	a0001c0001t0044g0118 a0002c0002t0003g0061 a0002c0002t0008g0063 others(4): Show a0001c0001t0044g0118 a0002c0002t0003g0061 a0002c0002t0008g0063 a0002c0002t0008g0116 a0002c0002t0043g0175 a0004c0005t0008g0068 a0011c0007t0003g0066	7	182	0.0385	6	c.191 others(25): Show c.1918-1464_1918-1463insTGTGAG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03492.hp1 NA18946.hp1 others(3): Show HG02896.hp2 HG03492.hp1 NA18946.hp1 NA18973.hp1 NA19009.hp2 NA19062.hp1	a0003 a0004 a0011 others(1): Show a0003 a0004 a0011 a0023	a0003c0051 a0004c0005 a0011c0007 others(1): Show a0003c0051 a0004c0005 a0011c0007 a0023c0034	a0003c0051t0010 a0004c0005t0008 a0011c0007t0002 others(1): Show a0003c0051t0010 a0004c0005t0008 a0011c0007t0002 a0023c0034t0002	a0003c0051t0010g0173 a0004c0005t0008g0068 a0011c0007t0002g0040 others(3): Show a0003c0051t0010g0173 a0004c0005t0008g0068 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0169 a0023c0034t0002g0124	6	182	0.0330	6	c.191 others(25): Show c.1917+9523_1917+9528dupAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327633	G G	GTGCTGC GTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(36): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02132.hp1 HG02258.hp1 HG02523.hp1 HG02809.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18944.hp2 NA18955.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA20300.hp1	a0002 a0014 a0015 others(4): Show a0002 a0014 a0015 a0017 a0018 a0034 a0036	a0002c0002 a0002c0004 a0014c0017 others(8): Show a0002c0002 a0002c0004 a0014c0017 a0015c0030 a0015c0055 a0017c0022 a0017c0040 a0018c0054 a0018c0056 a0034c0047 a0036c0037	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(20): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0017c0022t0001 a0017c0040t0007 a0018c0054t0001 a0018c0056t0007 a0034c0047t0002 a0036c0037t0001	a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 others(36): Show a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0017c0022t0001g0104 a0017c0022t0001g0146 a0017c0040t0007g0022 a0018c0054t0001g0115 a0018c0056t0007g0011 a0034c0047t0002g0029 a0036c0037t0001g0117	39	182	0.2143	6	c.672 others(13): Show c.672_677dupGCAGCA	p.Gln others(13): Show p.Gln224_Gln225dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	677/2448	226/815			chr6	TogoVar

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