Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0033 a0001c0001t0010g0034	2	35	0.0571	20	c.317 others(41): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389534	G G	GTATGTAT others(13): Show GTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0085 a0001c0006t0009g0085	1	118	0.0085	20	c.317 others(39): Show c.3176-5120_3176-5119insATATATATATATATATATGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389538	G G	GTATATAT others(13): Show GTATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0083 a0001c0003t0002g0083	1	118	0.0085	20	c.317 others(39): Show c.3176-5120_3176-5119insATATATATATATATATGTAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389552	A A	ATATGTAT others(13): Show ATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	124	0.0081	20	c.317 others(39): Show c.3176-5104_3176-5103insGTATATATATATATATGTAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442297	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	114	0.0088	20	c.332 others(41): Show c.3322+16002_3322+16003insCTCTCTCTCTCTTTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01361.hp1 HG01081.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0097 a0001c0002t0005g0055 a0001c0001t0003g0097 a0001c0002t0005g0055	2	86	0.0233	20	c.332 others(41): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTCTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03834.hp2 HG00738.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0028 a0001c0002t0001 a0001c0002t0028	a0001c0002t0001g0039 a0001c0002t0028g0077 a0001c0002t0001g0039 a0001c0002t0028g0077	2	86	0.0233	20	c.332 others(41): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTCTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	85	0.0118	20	c.332 others(41): Show c.3322+16002_3322+16003insCTCTCTCTCTCTCTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115528037	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 NA19240.hp2 HG02280.hp1 HG02809.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007	a0002c0004t0002g0011 a0002c0004t0006g0087 a0002c0004t0007g0010 a0002c0004t0002g0011 a0002c0004t0006g0087 a0002c0004t0007g0010	3	80	0.0375	20	c.371 others(39): Show c.3716+8729_3716+8748dupCCTTCCTTCCTTCCTTCCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115561672	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0024 a0001c0001t0024g0024	1	126	0.0079	20	c.379 others(41): Show c.3795+12153_3795+12154insTGGGTGTGTGTGTGTGTGTG	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(13): Show AATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02280.hp2 HG02572.hp2 others(4): Show HG00735.hp2 HG02280.hp2 HG02572.hp2 HG02970.hp2 HG03209.hp1 NA18522.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0006 a0001c0003t0047 a0001c0015t0034	a0001c0001t0002g0116 a0001c0001t0008g0023 a0001c0001t0011g0114 others(4): Show a0001c0001t0002g0116 a0001c0001t0008g0023 a0001c0001t0011g0114 a0001c0002t0001g0043 a0001c0002t0006g0060 a0001c0003t0047g0128 a0001c0015t0034g0096	7	61	0.1148	20	c.379 others(41): Show c.3795+48813_3795+48814insTTTATTTATTTATTTATTTA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115598350	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	27	0.0370	20	c.379 others(41): Show c.3795+48825_3795+48844dupATTTATTTATTTATTTATTT	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(13): Show TATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0062 a0001c0001t0015g0062	1	80	0.0125	20	c.379 others(41): Show c.3795+71741_3795+71742insTATATATAGAGAGAGAGAGA	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(13): Show TATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0022 a0001c0001t0023g0022	1	80	0.0125	20	c.379 others(41): Show c.3795+71741_3795+71742insTATATATATAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02559.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG02559.hp1 HG02818.hp2 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025 a0001c0005t0021	a0001c0001t0002g0014 a0001c0001t0003g0059 a0001c0001t0013g0018 others(3): Show a0001c0001t0002g0014 a0001c0001t0003g0059 a0001c0001t0013g0018 a0001c0001t0023g0022 a0001c0001t0025g0020 a0001c0005t0021g0007	6	61	0.0984	20	c.379 others(41): Show c.3795+83353_3795+83372dupATTTTATTTTATTTTATTTT	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(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0006 a0001c0007t0027g0006	1	69	0.0145	20	c.379 others(41): Show c.3796-13782_3796-13781insGTTTGTGTGTGTGTGTGTGT	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(13): Show CTATCTATCTATCATCTATCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02572.hp1 HG00738.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0048 a0001c0001t0020 a0001c0001t0048	a0001c0001t0020g0117 a0001c0001t0048g0123 a0001c0001t0020g0117 a0001c0001t0048g0123	2	55	0.0364	20	c.379 others(41): Show c.3796-13543_3796-13542insTATCTATCTATCATCTATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115713705	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCATCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0070 a0001c0012t0001g0070	1	54	0.0185	20	c.379 others(41): Show c.3796-13543_3796-13542insTATCTATCTATCTATCATCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115723534	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02300.hp1 HG02559.hp1 others(4): Show HG01952.hp1 HG02300.hp1 HG02559.hp1 HG03471.hp1 HG03540.hp1 NA18957.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0063 a0001c0001t0001g0112 a0001c0001t0002g0014 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0112 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0095 a0001c0001t0006g0103 a0001c0001t0026g0021	7	56	0.1250	20	c.379 others(39): Show c.3796-3704_3796-3685dupATTTATTTATTTATTTATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115729495	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	15	0.0667	20	c.390 others(39): Show c.3903+2162_3903+2181dupGTGTGTGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19070.hp2 HG01943.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0069 a0001c0001t0003g0073 a0001c0001t0001g0069 a0001c0001t0003g0073	2	91	0.0220	20	c.390 others(41): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTTCTT	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(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp1 HG01109.hp2 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0014 a0001c0007t0027 a0001c0003t0014 a0001c0007t0027	a0001c0003t0014g0092 a0001c0007t0027g0006 a0001c0003t0014g0092 a0001c0007t0027g0006	2	118	0.0169	20	c.390 others(41): Show c.3904-45850_3904-45831dupCACACACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02280.hp2 HG02523.hp1 others(5): Show HG01943.hp2 HG02280.hp2 HG02523.hp1 HG02976.hp2 NA18906.hp2 NA18957.hp2 NA19003.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0046 a0001c0003t0039 a0001c0005t0007	a0001c0001t0001g0112 a0001c0001t0003g0073 a0001c0001t0006g0107 others(5): Show a0001c0001t0001g0112 a0001c0001t0003g0073 a0001c0001t0006g0107 a0001c0001t0008g0023 a0001c0001t0019g0019 a0001c0001t0046g0106 a0001c0003t0039g0126 a0001c0005t0007g0002	8	14	0.5714	20	c.401 others(39): Show c.4018+8440_4018+8459dupAAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTATCT others(13): Show GTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0198 a0003c0008t0005g0198	1	35	0.0286	20	c.221 others(37): Show c.2215-144_2215-125dupATCTATCTATCTATCTATCT	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(13): Show GTCTGTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01109.hp2 others(18): Show HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp2 HG02165.hp2 HG02486.hp1 HG02809.hp2 HG02970.hp1 HG03516.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18994.hp2 NA19064.hp1 NA19240.hp1 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0030 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0013t0008 a0001c0014t0002 a0011c0028t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0042 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0010g0011 a0001c0001t0012g0133 a0001c0001t0014g0010 a0001c0001t0030g0143 a0001c0002t0003g0036 a0001c0002t0006g0164 a0001c0002t0008g0082 a0001c0002t0025g0090 a0001c0013t0008g0171 a0001c0014t0002g0174 a0011c0028t0001g0073	21	55	0.3818	20	c.221 others(37): Show c.2215-161_2215-160insGTCTGTCTATCTATCTATCT	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(13): Show GTCTGTCTGTCTGTCTATCTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(7): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG02257.hp1 HG02976.hp1 HG03540.hp2 HG04115.hp2 HG04228.hp1 NA18961.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0011 a0005c0010 a0001c0001 a0004c0011 a0005c0010	a0001c0001t0002 a0001c0001t0005 a0004c0011t0004 others(2): Show a0001c0001t0002 a0001c0001t0005 a0004c0011t0004 a0004c0011t0008 a0005c0010t0018	a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0005g0015 others(7): Show a0001c0001t0002g0040 a0001c0001t0002g0059 a0001c0001t0005g0015 a0001c0001t0005g0056 a0001c0001t0005g0068 a0001c0001t0005g0138 a0004c0011t0004g0165 a0004c0011t0008g0173 a0005c0010t0018g0126 a0005c0010t0018g0127	10	44	0.2273	20	c.221 others(37): Show c.2215-161_2215-160insGTCTGTCTGTCTATCTATCT	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(13): Show GTCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0017 a0001c0001t0028g0017	1	35	0.0286	20	c.221 others(37): Show c.2215-161_2215-160insGTCTGTCTGTCTGTCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp2 others(48): Show HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01952.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02647.hp1 HG02738.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 NA18522.hp2 NA18612.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18985.hp2 NA18994.hp2 NA19064.hp1 NA19064.hp2 NA19086.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0006c0027 a0017c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0032 a0001c0007t0003 a0001c0013t0017 a0006c0027t0014 a0017c0029t0002	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0027 others(48): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0005g0060 a0001c0001t0005g0080 a0001c0001t0005g0175 a0001c0001t0009g0047 a0001c0001t0010g0025 a0001c0001t0010g0096 a0001c0001t0010g0145 a0001c0001t0012g0208 a0001c0001t0030g0143 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0063 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0146 a0001c0002t0003g0176 a0001c0002t0004g0134 a0001c0002t0006g0164 a0001c0002t0008g0142 a0001c0002t0020g0098 a0001c0002t0021g0004 a0001c0002t0022g0024 a0001c0002t0025g0090 a0001c0002t0032g0032 a0001c0007t0003g0185 a0001c0013t0017g0149 a0006c0027t0014g0028 a0017c0029t0002g0122	51	102	0.5000	20	c.346 others(37): Show c.3469+645_3469+646insTATATATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	11	0.0909	20	c.621 others(39): Show c.6217+4231_6217+4250dupTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	124	0.0081	20	c.-49 others(31): Show c.-4934_-4933insTATATATATATATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(13): Show CTATAAATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG01928.hp1 others(5): Show HG01256.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02080.hp1 HG03239.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003	a0001c0001t0003g0210 a0002c0002t0001g0039 a0002c0002t0002g0046 others(5): Show a0001c0001t0003g0210 a0002c0002t0001g0039 a0002c0002t0002g0046 a0002c0004t0001g0008 a0002c0004t0001g0020 a0002c0004t0001g0036 a0002c0004t0001g0056 a0002c0004t0003g0035	8	92	0.0870	20	c.-49 others(31): Show c.-4990_-4989insTATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(13): Show CATTATATATATATACATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	22	0.0455	20	c.589 others(35): Show c.5898+82_5898+83insTATATGTATATATATATAAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(13): Show AAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	282	0.0035	20	c.117 others(41): Show c.1173+11227_1173+11228insAAAAATAATAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAATAA others(13): Show AAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19074.hp1 HG02602.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0245 a0001c0001t0002g0116 a0001c0001t0002g0245	2	283	0.0071	20	c.117 others(41): Show c.1173+11227_1173+11228insAATAATAATAATAATAATAA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AATAATAA others(13): Show AATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	282	0.0035	20	c.117 others(41): Show c.1173+11226_1173+11227insTAATAATAATAATAATAATA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	G G	GATTCTAT others(13): Show GATTCTATTCTATTCTATTCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18989.hp2 NA19081.hp2 NA18957.hp2 NA18989.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0001g0306 a0001c0001t0002g0108 a0001c0001t0001g0153 a0001c0001t0001g0306 a0001c0001t0002g0108	3	123	0.0244	20	c.117 others(41): Show c.1174-11554_1174-11535dupATTCTATTCTATTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(13): Show ATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18998.hp2 NA19074.hp1 HG03831.hp2 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0116	3	288	0.0104	20	c.117 others(41): Show c.1174-11535_1174-11534insATTCTATTGTTTTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	A A	AAATAGAA others(13): Show AAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02572.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	45	0.0444	20	c.123 others(41): Show c.1237+12211_1237+12230dupAATAGAATAGAATAGAATAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16407039	G G	GAACAAGC others(13): Show GAACAAGCATTTCTAACACTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0089 a0003c0002t0002g0089	1	180	0.0056	20	c.-16 others(41): Show c.-160-78589_-160-78570dupAAGTGTTAGAAATGCTTGTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16504993	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03453.hp2 HG01243.hp1 HG03453.hp2	a0003 a0005 a0003 a0005	a0003c0009 a0005c0038 a0003c0009 a0005c0038	a0003c0009t0001 a0005c0038t0018 a0003c0009t0001 a0005c0038t0018	a0003c0009t0001g0182 a0005c0038t0018g0054 a0003c0009t0001g0182 a0005c0038t0018g0054	2	92	0.0217	20	c.-29 others(41): Show c.-299+17633_-299+17634insAAAAAAAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03209.hp2 others(4): Show HG02630.hp1 HG02886.hp2 HG03209.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp2 NA18957.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0002c0030 a0003c0002 others(2): Show a0002c0004 a0002c0030 a0003c0002 a0003c0013 a0004c0005	a0002c0004t0006 a0002c0030t0011 a0003c0002t0003 others(3): Show a0002c0004t0006 a0002c0030t0011 a0003c0002t0003 a0003c0013t0002 a0003c0013t0007 a0004c0005t0002	a0002c0004t0006g0010 a0002c0030t0011g0047 a0003c0002t0003g0007 others(4): Show a0002c0004t0006g0010 a0002c0030t0011g0047 a0003c0002t0003g0007 a0003c0002t0003g0133 a0003c0013t0002g0029 a0003c0013t0007g0022 a0004c0005t0002g0072	7	115	0.0609	20	c.-36 others(39): Show c.-360-3377_-360-3376insGTGTATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0163 a0002c0004t0009g0163	1	109	0.0092	20	c.-36 others(39): Show c.-360-3377_-360-3376insGTATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(13): Show AAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01074.hp1 others(13): Show HG00140.hp1 HG00735.hp1 HG01074.hp1 HG01243.hp2 HG01978.hp1 HG02004.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02698.hp1 HG02735.hp1 HG02970.hp1 HG03041.hp2 HG06807.hp1 NA18522.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(8): Show a0001c0001 a0001c0008 a0001c0010 a0001c0019 a0001c0034 a0002c0003 a0002c0011 a0003c0013 a0004c0006 a0005c0028 a0005c0029	a0001c0001t0001 a0001c0001t0002 a0001c0008t0010 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0010 a0001c0008t0047 a0001c0010t0024 a0001c0019t0001 a0001c0034t0004 a0002c0003t0001 a0002c0003t0021 a0002c0003t0031 a0002c0011t0042 a0003c0013t0001 a0003c0013t0007 a0004c0006t0002 a0005c0028t0003 a0005c0029t0034	a0001c0001t0001g0045 a0001c0001t0002g0076 a0001c0008t0010g0038 others(13): Show a0001c0001t0001g0045 a0001c0001t0002g0076 a0001c0008t0010g0038 a0001c0008t0047g0060 a0001c0010t0024g0048 a0001c0019t0001g0024 a0001c0034t0004g0065 a0002c0003t0001g0039 a0002c0003t0021g0003 a0002c0003t0031g0058 a0002c0011t0042g0026 a0003c0013t0001g0117 a0003c0013t0007g0011 a0004c0006t0002g0162 a0005c0028t0003g0149 a0005c0029t0034g0139	16	128	0.1250	20	c.-36 others(41): Show c.-361+23328_-361+23329insCCTTTCCTTTCCTTTCCTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(13): Show AAGGAAAGGAAACGAAAGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 NA18986.hp2 others(1): Show HG02895.hp2 HG03225.hp2 NA18986.hp2 NA19062.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0041 a0006c0024 a0001c0001 a0001c0041 a0006c0024	a0001c0001t0002 a0001c0041t0036 a0006c0024t0002 a0001c0001t0002 a0001c0041t0036 a0006c0024t0002	a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0041t0036g0095 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0077 a0001c0041t0036g0095 a0006c0024t0002g0170	4	78	0.0513	20	c.-36 others(41): Show c.-361+23326_-361+23327insCTCCTTTCGTTTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(13): Show AAGGAAAGGAGAGGAGACGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0046 a0001c0008t0046	a0001c0008t0046g0062 a0001c0008t0046g0062	1	75	0.0133	20	c.-36 others(41): Show c.-361+23326_-361+23327insCTCGTCTCCTCTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(13): Show AAGGAAAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0164 a0002c0004t0002g0164	1	75	0.0133	20	c.-36 others(41): Show c.-361+23326_-361+23327insCTCCTCTCCTCTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01257.hp1 others(10): Show HG00423.hp1 HG00609.hp1 HG01257.hp1 HG02135.hp1 HG02257.hp2 HG02809.hp1 HG02886.hp2 HG04199.hp2 NA18612.hp1 NA18946.hp1 NA18952.hp2 NA18986.hp1 NA19060.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0002c0003 others(5): Show a0001c0001 a0001c0010 a0002c0003 a0003c0002 a0003c0009 a0004c0006 a0004c0014 a0005c0007	a0001c0001t0001 a0001c0010t0023 a0002c0003t0001 others(7): Show a0001c0001t0001 a0001c0010t0023 a0002c0003t0001 a0003c0002t0003 a0003c0002t0043 a0003c0009t0017 a0004c0006t0002 a0004c0014t0001 a0005c0007t0005 a0005c0007t0016	a0001c0001t0001g0043 a0001c0001t0001g0158 a0001c0001t0001g0178 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0010t0023g0023 a0002c0003t0001g0039 a0003c0002t0003g0007 a0003c0002t0043g0175 a0003c0009t0017g0179 a0004c0006t0002g0097 a0004c0014t0001g0152 a0005c0007t0005g0036 a0005c0007t0005g0091 a0005c0007t0016g0153	13	97	0.1340	20	c.-36 others(39): Show c.-361+1537_-361+1556dupATATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584243	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0074 a0005c0017t0001g0074	1	141	0.0071	20	c.-36 others(39): Show c.-361+1536_-361+1537insGTATATATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0016 a0001c0001 a0002c0004 a0005c0016	a0001c0001t0001 a0002c0004t0009 a0005c0016t0001 a0001c0001t0001 a0002c0004t0009 a0005c0016t0001	a0001c0001t0001g0123 a0002c0004t0009g0163 a0005c0016t0001g0127 a0001c0001t0001g0123 a0002c0004t0009g0163 a0005c0016t0001g0127	3	44	0.0682	20	c.-48 others(41): Show c.-488-20980_-488-20961dupCACACACACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0040 a0004c0006t0002g0040	1	157	0.0064	20	c.-61 others(41): Show c.-615+22749_-615+22750insTATATATATATATATATATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar

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