Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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	115729495	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01081.hp2 others(11): Show HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01515.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp1 NA18959.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0001c0003t0003 a0001c0003t0004 a0001c0005t0007 a0002c0008t0011	a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0002g0078 others(11): Show a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0003g0059 a0001c0001t0003g0097 a0001c0001t0029g0076 a0001c0003t0003g0047 a0001c0003t0004g0040 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0002c0008t0011g0072	14	28	0.5000	8	c.390 others(27): Show c.3903+2174_3903+2181dupGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740494	C C	CCTATCTA others(1): Show CCTATCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03195.hp2 HG03834.hp2 HG00639.hp1 HG03195.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0043 a0001c0002t0028 a0001c0012t0001 a0001c0001t0043 a0001c0002t0028 a0001c0012t0001	a0001c0001t0043g0098 a0001c0002t0028g0077 a0001c0012t0001g0070 a0001c0001t0043g0098 a0001c0002t0028g0077 a0001c0012t0001g0070	3	11	0.2727	8	c.390 others(29): Show c.3903+13152_3903+13159dupCTATCTAT	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(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01891.hp2 others(9): Show HG00741.hp2 HG01123.hp1 HG01891.hp2 HG02135.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02970.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0002t0006 a0001c0003t0031	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0016 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0016 a0001c0001t0003g0064 a0001c0001t0006g0107 a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0001t0016g0031 a0001c0001t0023g0022 a0001c0001t0025g0020 a0001c0002t0006g0060 a0001c0003t0031g0015	12	101	0.1188	8	c.390 others(29): Show c.3903+45241_3903+45242insGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772597	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02559.hp1 others(5): Show HG00639.hp2 HG02145.hp2 HG02559.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0035 a0001c0005t0007 a0001c0005t0032 a0002c0008t0011	a0001c0001t0002g0014 a0001c0001t0013g0018 a0001c0001t0035g0120 others(5): Show a0001c0001t0002g0014 a0001c0001t0013g0018 a0001c0001t0035g0120 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0032g0005 a0002c0008t0011g0072	8	44	0.1818	8	c.390 others(29): Show c.3903+45270_3903+45277dupGTGTGTGT	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(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01081.hp2 others(11): Show HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01515.hp2 HG02055.hp2 HG02135.hp2 HG02300.hp1 HG02572.hp2 HG02818.hp2 HG03239.hp1 HG03453.hp1 HG04115.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0002t0005 a0001c0003t0003 a0001c0003t0014 a0001c0010t0006 a0001c0015t0034	a0001c0001t0001g0100 a0001c0001t0002g0080 a0001c0001t0003g0059 others(11): Show a0001c0001t0001g0100 a0001c0001t0002g0080 a0001c0001t0003g0059 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0111 a0001c0001t0008g0084 a0001c0001t0011g0114 a0001c0001t0029g0076 a0001c0002t0005g0051 a0001c0003t0003g0047 a0001c0003t0014g0092 a0001c0010t0006g0090 a0001c0015t0034g0096	14	23	0.6087	8	c.390 others(29): Show c.3904-32432_3904-32425dupGTGTGTGT	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(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG03041.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0003t0003 a0002c0008t0044	a0001c0001t0002g0078 a0001c0001t0008g0084 a0001c0001t0010g0034 others(2): Show a0001c0001t0002g0078 a0001c0001t0008g0084 a0001c0001t0010g0034 a0001c0003t0003g0058 a0002c0008t0044g0061	5	11	0.4545	8	c.401 others(27): Show c.4018+8452_4018+8459dupAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3492168	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG02486.hp2 others(7): Show HG01106.hp1 HG01261.hp1 HG02486.hp2 HG02572.hp2 HG03130.hp2 HG03486.hp2 HG03704.hp2 HG03942.hp1 NA18953.hp2 NA19043.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0011	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0003c0008 a0006c0015 a0008c0019 a0011c0028	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0002t0006 a0001c0013t0026 a0003c0008t0029 a0006c0015t0004 a0008c0019t0004 a0011c0028t0001	a0001c0001t0001g0066 a0001c0001t0010g0145 a0001c0001t0015g0005 others(7): Show a0001c0001t0001g0066 a0001c0001t0010g0145 a0001c0001t0015g0005 a0001c0001t0023g0087 a0001c0002t0006g0074 a0001c0013t0026g0169 a0003c0008t0029g0196 a0006c0015t0004g0026 a0008c0019t0004g0210 a0011c0028t0001g0073	10	14	0.7143	8	c.410 others(27): Show c.410+20680_410+20687dupGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492854	G G	GAGGCGCG others(1): Show GAGGCGCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18985.hp1 NA19081.hp1 NA18952.hp2 NA18985.hp1 NA19081.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203	3	157	0.0191	8	c.410 others(27): Show c.410+21337_410+21338insAGGCGCGC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28			chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01884.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0031 a0001c0003t0037 a0001c0006t0003 a0001c0003t0031 a0001c0003t0037 a0001c0006t0003	a0001c0003t0031g0218 a0001c0003t0037g0194 a0001c0006t0003g0211 others(1): Show a0001c0003t0031g0218 a0001c0003t0037g0194 a0001c0006t0003g0211 a0001c0006t0003g0212	4	60	0.0667	8	c.494 others(23): Show c.494+284_494+291dupCACACACA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554305	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(64): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp1 NA18985.hp1 NA19030.hp1 NA19064.hp1 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0002c0004 a0002c0012 a0005c0010 a0016c0032 a0017c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0032 a0001c0003t0037 a0001c0007t0006 a0001c0013t0008 a0002c0004t0004 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0005c0010t0005 a0005c0010t0018 a0016c0032t0001 a0017c0029t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0002g0012 a0001c0001t0002g0065 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0005g0015 a0001c0001t0005g0056 a0001c0001t0005g0064 a0001c0001t0005g0068 a0001c0001t0005g0121 a0001c0001t0005g0138 a0001c0001t0005g0175 a0001c0001t0009g0022 a0001c0001t0010g0096 a0001c0001t0010g0145 a0001c0001t0012g0208 a0001c0001t0014g0010 a0001c0001t0028g0017 a0001c0001t0030g0143 a0001c0001t0033g0094 a0001c0002t0003g0146 a0001c0002t0003g0220 a0001c0002t0004g0097 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0053 a0001c0002t0006g0067 a0001c0002t0006g0069 a0001c0002t0006g0074 a0001c0002t0006g0164 a0001c0002t0020g0098 a0001c0002t0021g0004 a0001c0002t0022g0024 a0001c0002t0032g0032 a0001c0003t0037g0194 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0001c0013t0008g0171 a0002c0004t0004g0160 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0159 a0002c0012t0013g0161 a0002c0012t0019g0158 a0005c0010t0005g0128 a0005c0010t0018g0126 a0005c0010t0018g0127 a0016c0032t0001g0195 a0017c0029t0002g0122	67	126	0.5317	8	c.111 others(27): Show c.1112+5007_1112+5014dupATTTATTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576679	A A	ATCTGTCT others(1): Show ATCTGTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01099.hp1 others(19): Show HG00099.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 NA18957.hp2 NA19043.hp2 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0010c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0033 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0022 a0001c0007t0003 a0010c0024t0003	a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0113 others(19): Show a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0005g0120 a0001c0001t0005g0175 a0001c0001t0012g0115 a0001c0001t0015g0005 a0001c0001t0033g0094 a0001c0002t0003g0062 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0147 a0001c0002t0004g0097 a0001c0002t0006g0049 a0001c0002t0006g0069 a0001c0002t0008g0081 a0001c0002t0008g0130 a0001c0002t0022g0024 a0001c0007t0003g0185 a0001c0007t0003g0193 a0010c0024t0003g0054	22	209	0.1053	8	c.221 others(25): Show c.2215-168_2215-161dupGTCTGTCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3576695	G G	GTCTATCT others(1): Show GTCTATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp1 others(7): Show HG00140.hp2 HG00733.hp2 HG01081.hp1 HG01106.hp2 HG01433.hp1 HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp2 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0004 others(2): Show a0001c0003 a0001c0005 a0002c0004 a0002c0012 a0003c0018	a0001c0003t0005 a0001c0005t0007 a0002c0004t0004 others(4): Show a0001c0003t0005 a0001c0005t0007 a0002c0004t0004 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0003c0018t0007	a0001c0003t0005g0178 a0001c0005t0007g0181 a0001c0005t0007g0191 others(7): Show a0001c0003t0005g0178 a0001c0005t0007g0181 a0001c0005t0007g0191 a0001c0005t0007g0192 a0002c0004t0004g0157 a0002c0004t0004g0160 a0002c0012t0012g0159 a0002c0012t0013g0161 a0002c0012t0019g0158 a0003c0018t0007g0200	10	44	0.2273	8	c.221 others(25): Show c.2215-132_2215-125dupATCTATCT	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(1): Show GTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02280.hp1 others(2): Show HG01071.hp2 HG01496.hp1 HG02280.hp1 HG03486.hp2 HG03490.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 others(1): Show a0001c0001 a0001c0002 a0006c0015 a0006c0027	a0001c0001t0005 a0001c0002t0003 a0006c0015t0004 others(2): Show a0001c0001t0005 a0001c0002t0003 a0006c0015t0004 a0006c0015t0024 a0006c0027t0014	a0001c0001t0005g0080 a0001c0002t0003g0075 a0006c0015t0004g0026 others(2): Show a0001c0001t0005g0080 a0001c0002t0003g0075 a0006c0015t0004g0026 a0006c0015t0024g0137 a0006c0027t0014g0028	5	39	0.1282	8	c.221 others(25): Show c.2215-161_2215-160insGTCTATCT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3587827	C C	CTGTTTGT others(1): Show CTGTTTGTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp1 HG02647.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0035 a0001c0003t0010 a0001c0003t0035	a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0003t0010g0206 a0001c0003t0035g0205	2	165	0.0121	8	c.318 others(27): Show c.3184+2976_3184+2983dupTGTTTGTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3609714	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02165.hp2 others(12): Show HG00738.hp1 HG01109.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03130.hp2 HG03540.hp1 NA18966.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 others(7): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0003t0005	a0001c0001t0010g0011 a0001c0001t0010g0145 a0001c0001t0013g0107 others(12): Show a0001c0001t0010g0011 a0001c0001t0010g0145 a0001c0001t0013g0107 a0001c0001t0014g0010 a0001c0001t0030g0143 a0001c0002t0003g0023 a0001c0002t0003g0146 a0001c0002t0004g0029 a0001c0002t0004g0092 a0001c0002t0004g0124 a0001c0002t0004g0134 a0001c0002t0006g0053 a0001c0002t0008g0081 a0001c0002t0017g0079 a0001c0003t0005g0190	15	40	0.3750	8	c.380 others(27): Show c.3801+5482_3801+5489dupGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3635363	T T	TAATAAAT others(1): Show TAATAAATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG03041.hp1 others(2): Show HG02145.hp1 HG02559.hp1 HG03041.hp1 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0012 a0001c0001t0027 a0002c0012t0012 a0001c0001t0012 a0001c0001t0027 a0002c0012t0012	a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0012g0208 others(2): Show a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0001t0012g0208 a0001c0001t0027g0095 a0002c0012t0012g0159	5	165	0.0303	8	c.394 others(26): Show c.3942+999_3942+1006dupAATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77538230	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19084.hp2 NA20129.hp2 HG01243.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0194 a0001c0001t0008g0004 a0001c0001t0008g0076 a0001c0001t0004g0194 a0001c0001t0008g0004 a0001c0001t0008g0076	3	127	0.0236	8	c.670 others(29): Show c.6700-14837_6700-14830dupGTGTGTGT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77556211	A A	AAGGGAGA others(1): Show AAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG02615.hp1 others(8): Show HG02040.hp1 HG02165.hp1 HG02615.hp1 HG03486.hp2 HG03831.hp1 NA18906.hp1 NA18943.hp1 NA18973.hp1 NA18973.hp2 NA19001.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0097 others(8): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0097 a0001c0001t0002g0115 a0001c0001t0002g0135 a0001c0001t0002g0216 a0001c0001t0004g0114 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0006g0178 a0002c0002t0001g0053	11	98	0.1122	8	c.669 others(27): Show c.6699+1232_6699+1239dupCTCTCCCT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01975.hp2 HG02451.hp2 others(2): Show HG00558.hp2 HG01975.hp2 HG02451.hp2 NA18965.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0070 a0001c0001t0003g0149 a0001c0001t0004g0183 others(2): Show a0001c0001t0002g0070 a0001c0001t0003g0149 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0004g0194	5	21	0.2381	8	c.455 others(25): Show c.4557+889_4557+896dupTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77667295	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02135.hp1 others(2): Show HG01257.hp2 HG01258.hp1 HG02135.hp1 HG02683.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0001c0001t0001 a0001c0001t0002 a0001c0012t0002	a0001c0001t0001g0137 a0001c0001t0002g0112 a0001c0001t0002g0138 others(2): Show a0001c0001t0001g0137 a0001c0001t0002g0112 a0001c0001t0002g0138 a0001c0001t0002g0171 a0001c0012t0002g0212	5	19	0.2632	8	c.381 others(27): Show c.3810-2525_3810-2518dupCACACACA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAATA others(1): Show AAAAAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01256.hp1 others(4): Show HG00642.hp1 HG01099.hp1 HG01256.hp1 HG01928.hp1 HG01975.hp1 HG03490.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003	a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0040 others(4): Show a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0002g0013 a0002c0004t0001g0008 a0002c0004t0001g0036 a0002c0004t0003g0035	7	69	0.1014	8	c.380 others(27): Show c.3809+5058_3809+5059insATATTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(1): Show AAAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01192.hp1 others(10): Show HG00140.hp1 HG00323.hp1 HG01192.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02735.hp1 HG02738.hp1 HG03195.hp1 HG03492.hp1 HG03688.hp1 HG03942.hp1 NA19056.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0006t0001	a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0033 others(10): Show a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0002g0010 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0002g0209 a0002c0002t0003g0024 a0002c0002t0003g0027 a0002c0002t0003g0176 a0003c0006t0001g0012	13	75	0.1733	8	c.380 others(27): Show c.3809+5058_3809+5059insATATATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18983.hp1 NA18985.hp1 HG02074.hp1 NA18983.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001	a0001c0001t0002g0128 a0001c0001t0006g0214 a0002c0002t0001g0060 a0001c0001t0002g0128 a0001c0001t0006g0214 a0002c0002t0001g0060	3	31	0.0968	8	c.484 others(23): Show c.484+970_484+977dupACACACAC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77735598	C C	CTAAATAA others(1): Show CTAAATAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01099.hp1 others(44): Show HG00280.hp1 HG01070.hp2 HG01099.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02273.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19011.hp1 NA19056.hp1 NA19074.hp2 NA19083.hp1 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0006 a0002c0002 a0002c0004 a0003c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0002c0004t0001 a0002c0004t0003 a0003c0006t0001	a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0015 others(44): Show a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0204 a0002c0002t0002g0010 a0002c0002t0002g0023 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0106 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0003g0019 a0002c0002t0003g0025 a0002c0002t0006g0206 a0002c0002t0012g0038 a0002c0004t0001g0008 a0002c0004t0001g0020 a0002c0004t0001g0036 a0002c0004t0001g0056 a0002c0004t0003g0035 a0003c0006t0001g0158	47	149	0.3154	8	c.21- others(25): Show c.21-18363_21-18356dupTTTATTTA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77767236	G G	GGAGAGGG others(1): Show GGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01243.hp1 others(5): Show HG00140.hp1 HG01109.hp1 HG01243.hp1 HG02071.hp1 HG02083.hp1 HG02738.hp1 HG03453.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 others(2): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002	a0001c0001t0008g0076 a0001c0001t0010g0087 a0001c0001t0015g0081 others(5): Show a0001c0001t0008g0076 a0001c0001t0010g0087 a0001c0001t0015g0081 a0002c0002t0001g0033 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0002g0205 a0002c0002t0002g0209	8	212	0.0377	8	c.20+ others(25): Show c.20+18738_20+18745dupTCCCTCTC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77775715	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp1 others(7): Show HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02074.hp1 HG02273.hp2 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03942.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0002c0002t0001 a0002c0002t0003 a0003c0006t0001	a0001c0001t0001g0137 a0001c0001t0002g0138 a0001c0001t0002g0181 others(7): Show a0001c0001t0001g0137 a0001c0001t0002g0138 a0001c0001t0002g0181 a0001c0012t0002g0212 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0060 a0002c0002t0001g0155 a0002c0002t0003g0176 a0003c0006t0001g0158	10	77	0.1299	8	c.20+ others(25): Show c.20+10259_20+10266dupTAAATAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02165.hp2 HG04184.hp1 others(4): Show HG00323.hp2 HG02165.hp2 HG04184.hp1 NA18612.hp1 NA18943.hp1 NA18985.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0006g0214	7	130	0.0538	8	c.-49 others(19): Show c.-4934_-4933insTATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG02145.hp2 others(4): Show HG00735.hp1 HG01258.hp1 HG02145.hp2 HG02280.hp1 HG02735.hp2 HG02970.hp1 NA20300.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0014 a0001c0001 a0001c0004 a0009c0014	a0001c0001t0001 a0001c0004t0001 a0009c0014t0001 a0001c0001t0001 a0001c0004t0001 a0009c0014t0001	a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0141 a0001c0004t0001g0160 a0001c0004t0001g0204 a0009c0014t0001g0033	7	98	0.0714	8	c.622 others(27): Show c.6222-1910_6222-1903dupCACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18942.hp1 NA18963.hp1 others(4): Show HG04228.hp1 NA18942.hp1 NA18963.hp1 NA18967.hp1 NA18986.hp1 NA18999.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0249 a0002c0002t0001g0258 others(4): Show a0002c0002t0001g0232 a0002c0002t0001g0249 a0002c0002t0001g0258 a0002c0002t0001g0262 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0299	7	28	0.2500	8	c.589 others(23): Show c.5898+75_5898+82dupTATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18961.hp1 NA18986.hp2 NA18944.hp1 NA18961.hp1 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0171 a0003c0003t0001g0003 a0003c0003t0001g0171	3	301	0.0100	8	c.394 others(27): Show c.3946-4663_3946-4656dupATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528877	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG02145.hp1 others(2): Show HG01256.hp2 HG01346.hp2 HG02145.hp1 HG02976.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0081 a0001c0001t0001g0088 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0118	5	236	0.0212	8	c.394 others(27): Show c.3946-4679_3946-4678insAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(1): Show ATATTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01258.hp1 HG01496.hp1 others(5): Show HG01192.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG02071.hp2 HG02886.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0004t0001g0208	8	106	0.0755	8	c.394 others(27): Show c.3946-4681_3946-4680insAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01109.hp2 others(15): Show HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01361.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA18906.hp1 NA19056.hp2 NA19077.hp2 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0071 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0137	18	116	0.1552	8	c.394 others(27): Show c.3946-4688_3946-4681dupAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142558523	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02148.hp2 HG02165.hp2 others(8): Show HG01081.hp1 HG02148.hp2 HG02165.hp2 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA18982.hp2 NA18987.hp1 NA19010.hp2 NA19068.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0001 a0003c0003t0001 a0002c0005t0001 a0003c0003t0001	a0002c0005t0001g0212 a0002c0005t0001g0278 a0002c0005t0001g0279 others(8): Show a0002c0005t0001g0212 a0002c0005t0001g0278 a0002c0005t0001g0279 a0002c0005t0001g0280 a0002c0005t0001g0281 a0002c0005t0001g0282 a0002c0005t0001g0283 a0002c0005t0001g0284 a0002c0005t0001g0285 a0002c0005t0001g0307 a0003c0003t0001g0170	11	146	0.0753	8	c.188 others(24): Show c.1885+93_1885+100dupATTTATTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	8/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(1): Show ATATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(158): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0003c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(158): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0046 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0203 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0307 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0140 a0001c0001t0004g0244 a0001c0001t0005g0071 a0001c0001t0005g0292 a0001c0001t0006g0087 a0001c0001t0006g0119 a0001c0001t0007g0205 a0001c0001t0010g0104 a0001c0001t0012g0081 a0001c0001t0017g0247 a0003c0002t0001g0064	161	209	0.7703	8	c.729 others(25): Show c.729-2056_729-2049dupATCTATCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740719	C C	CACATACA others(1): Show CACATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02965.hp2 others(1): Show HG01891.hp2 HG02055.hp2 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294	4	215	0.0186	8	c.117 others(25): Show c.1173+182_1173+183insCATACATA	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(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03239.hp2 NA18906.hp1 others(2): Show HG00140.hp2 HG03239.hp2 NA18906.hp1 NA18957.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0195 a0001c0001t0001g0238 a0001c0001t0001g0306 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0238 a0001c0001t0001g0306 a0001c0001t0002g0106 a0001c0001t0005g0291	5	215	0.0233	8	c.117 others(29): Show c.1173+32930_1173+32937dupATTTATTT	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(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03834.hp2 NA18747.hp1 others(2): Show HG00438.hp2 HG03834.hp2 NA18747.hp1 NA18972.hp2 NA19062.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0041 a0003c0009 a0004c0014 others(1): Show a0001c0041 a0003c0009 a0004c0014 a0004c0026	a0001c0041t0036 a0003c0009t0001 a0004c0014t0001 others(1): Show a0001c0041t0036 a0003c0009t0001 a0004c0014t0001 a0004c0026t0001	a0001c0041t0036g0095 a0003c0009t0001g0046 a0003c0009t0001g0174 others(2): Show a0001c0041t0036g0095 a0003c0009t0001g0046 a0003c0009t0001g0174 a0004c0014t0001g0176 a0004c0026t0001g0156	5	30	0.1667	8	c.191 others(27): Show c.1918-1471_1918-1464dupTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02257.hp1 HG02451.hp1 others(9): Show HG02132.hp2 HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02735.hp1 HG03098.hp1 NA18906.hp2 NA18942.hp2 NA18951.hp1 NA18957.hp1 NA18957.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0012 a0002c0004 a0002c0011 others(4): Show a0001c0012 a0002c0004 a0002c0011 a0004c0005 a0004c0006 a0004c0023 a0005c0016	a0001c0012t0006 a0001c0012t0048 a0002c0004t0009 others(6): Show a0001c0012t0006 a0001c0012t0048 a0002c0004t0009 a0002c0011t0012 a0004c0005t0002 a0004c0005t0032 a0004c0006t0002 a0004c0023t0002 a0005c0016t0001	a0001c0012t0006g0008 a0001c0012t0006g0112 a0001c0012t0048g0031 others(9): Show a0001c0012t0006g0008 a0001c0012t0006g0112 a0001c0012t0048g0031 a0002c0004t0009g0163 a0002c0011t0012g0135 a0004c0005t0002g0072 a0004c0005t0002g0177 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0162 a0004c0023t0002g0101 a0005c0016t0001g0127	12	52	0.2308	8	c.191 others(27): Show c.1917+9521_1917+9528dupAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16378572	T T	TATTTATT others(1): Show TATTTATTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02630.hp1 others(2): Show HG02451.hp1 HG02615.hp2 HG02630.hp1 HG03209.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0012 a0002c0030 a0003c0013 others(1): Show a0001c0012 a0002c0030 a0003c0013 a0005c0016	a0001c0012t0006 a0002c0030t0011 a0003c0013t0002 others(1): Show a0001c0012t0006 a0002c0030t0011 a0003c0013t0002 a0005c0016t0001	a0001c0012t0006g0008 a0002c0030t0011g0047 a0003c0013t0002g0029 others(2): Show a0001c0012t0006g0008 a0002c0030t0011g0047 a0003c0013t0002g0029 a0005c0016t0001g0025 a0005c0016t0001g0127	5	180	0.0278	8	c.-16 others(29): Show c.-160-50103_-160-50102insGAATAAAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16389297	A A	ACTGCACT others(1): Show ACTGCACTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01081.hp1 HG01169.hp2 others(17): Show HG00408.hp2 HG01081.hp1 HG01169.hp2 HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(12): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0032 a0002c0003 a0002c0004 a0002c0018 a0002c0030 a0002c0039 a0002c0040 a0003c0009 a0003c0013 a0004c0037 a0005c0016	a0001c0001t0001 a0001c0001t0010 a0001c0008t0001 others(16): Show a0001c0001t0001 a0001c0001t0010 a0001c0008t0001 a0001c0008t0011 a0001c0010t0014 a0001c0012t0006 a0001c0032t0018 a0002c0003t0001 a0002c0003t0031 a0002c0004t0002 a0002c0004t0035 a0002c0018t0045 a0002c0030t0011 a0002c0039t0012 a0002c0040t0006 a0003c0009t0001 a0003c0013t0002 a0004c0037t0001 a0005c0016t0001	a0001c0001t0001g0159 a0001c0001t0010g0128 a0001c0008t0001g0009 others(17): Show a0001c0001t0001g0159 a0001c0001t0010g0128 a0001c0008t0001g0009 a0001c0008t0011g0053 a0001c0010t0014g0082 a0001c0012t0006g0008 a0001c0032t0018g0059 a0002c0003t0001g0039 a0002c0003t0031g0058 a0002c0004t0002g0028 a0002c0004t0035g0018 a0002c0018t0045g0147 a0002c0030t0011g0047 a0002c0039t0012g0030 a0002c0040t0006g0132 a0003c0009t0001g0073 a0003c0013t0002g0029 a0004c0037t0001g0016 a0005c0016t0001g0025 a0005c0016t0001g0127	20	180	0.1111	8	c.-16 others(29): Show c.-160-60835_-160-60828dupGAGTGCAG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16471688	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00642.hp2 others(21): Show HG00140.hp1 HG00597.hp1 HG00642.hp2 HG01070.hp1 HG01081.hp1 HG01884.hp2 HG02004.hp1 HG02155.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG03098.hp1 HG03130.hp1 HG03688.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18972.hp2 NA18973.hp1 NA19009.hp1 NA19060.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0034 others(8): Show a0001c0001 a0001c0008 a0001c0034 a0002c0003 a0002c0004 a0002c0011 a0003c0002 a0003c0009 a0004c0005 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0002 a0001c0034t0004 a0002c0003t0001 a0002c0003t0021 a0002c0004t0002 a0002c0004t0003 a0002c0004t0049 a0002c0011t0001 a0002c0011t0012 a0003c0002t0002 a0003c0002t0007 a0003c0002t0008 a0003c0002t0016 a0003c0009t0001 a0004c0005t0002 a0004c0006t0002 a0005c0007t0005 a0005c0007t0019	a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0159 others(21): Show a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0002g0076 a0001c0008t0002g0013 a0001c0034t0004g0065 a0002c0003t0001g0049 a0002c0003t0021g0003 a0002c0004t0002g0028 a0002c0004t0003g0006 a0002c0004t0003g0114 a0002c0004t0049g0005 a0002c0011t0001g0034 a0002c0011t0012g0135 a0003c0002t0002g0090 a0003c0002t0007g0136 a0003c0002t0008g0140 a0003c0002t0016g0111 a0003c0009t0001g0046 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0006t0002g0169 a0005c0007t0005g0168 a0005c0007t0019g0001	24	138	0.1739	8	c.-16 others(29): Show c.-161+14276_-161+14283dupACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG01255.hp1 others(8): Show HG00438.hp1 HG01081.hp2 HG01255.hp1 HG02630.hp2 HG02735.hp2 HG02886.hp2 HG03139.hp2 HG03927.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(8): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0003c0002 a0004c0005 a0004c0014 a0005c0007	a0001c0001t0029 a0001c0008t0012 a0001c0010t0004 others(8): Show a0001c0001t0029 a0001c0008t0012 a0001c0010t0004 a0002c0003t0001 a0002c0004t0002 a0002c0011t0007 a0002c0018t0045 a0003c0002t0003 a0004c0005t0002 a0004c0014t0001 a0005c0007t0005	a0001c0001t0029g0145 a0001c0008t0012g0148 a0001c0010t0004g0050 others(8): Show a0001c0001t0029g0145 a0001c0008t0012g0148 a0001c0010t0004g0050 a0002c0003t0001g0109 a0002c0004t0002g0028 a0002c0011t0007g0155 a0002c0018t0045g0147 a0003c0002t0003g0007 a0004c0005t0002g0167 a0004c0014t0001g0157 a0005c0007t0005g0036	11	53	0.2075	8	c.-16 others(25): Show c.-161+980_-161+981insTACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16504993	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02486.hp1 others(9): Show HG00642.hp1 HG01109.hp2 HG02486.hp1 HG02622.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0012 a0001c0020 others(4): Show a0001c0008 a0001c0012 a0001c0020 a0001c0033 a0002c0003 a0002c0004 a0002c0011	a0001c0008t0011 a0001c0008t0046 a0001c0008t0047 others(8): Show a0001c0008t0011 a0001c0008t0046 a0001c0008t0047 a0001c0012t0006 a0001c0020t0015 a0001c0033t0001 a0002c0003t0031 a0002c0004t0002 a0002c0004t0003 a0002c0004t0049 a0002c0011t0007	a0001c0008t0011g0053 a0001c0008t0046g0062 a0001c0008t0047g0060 others(9): Show a0001c0008t0011g0053 a0001c0008t0046g0062 a0001c0008t0047g0060 a0001c0012t0006g0052 a0001c0020t0015g0017 a0001c0033t0001g0012 a0002c0003t0031g0058 a0002c0004t0002g0164 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0049g0005 a0002c0011t0007g0019	12	102	0.1176	8	c.-29 others(29): Show c.-299+17626_-299+17633dupAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02886.hp1 HG03927.hp1 others(1): Show HG01081.hp2 HG02886.hp1 HG03927.hp1 NA18972.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0003c0009	a0001c0001t0010 a0001c0010t0004 a0002c0003t0001 others(1): Show a0001c0001t0010 a0001c0010t0004 a0002c0003t0001 a0003c0009t0001	a0001c0001t0010g0128 a0001c0010t0004g0050 a0002c0003t0001g0109 others(1): Show a0001c0001t0010g0128 a0001c0010t0004g0050 a0002c0003t0001g0109 a0003c0009t0001g0046	4	88	0.0455	8	c.-36 others(27): Show c.-361+1549_-361+1556dupATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCGCGCAC others(1): Show GCGCGCACA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0002 a0002c0004 a0003c0002	a0002c0004t0035 a0003c0002t0010 a0002c0004t0035 a0003c0002t0010	a0002c0004t0035g0018 a0003c0002t0010g0015 a0002c0004t0035g0018 a0003c0002t0010g0015	2	130	0.0154	8	c.-48 others(25): Show c.-488-137_-488-136insTGTGCGCG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16617766	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01258.hp1 others(21): Show HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18957.hp2 NA18986.hp1 NA19030.hp1 NA19062.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0008 a0001c0010 a0001c0012 others(10): Show a0001c0008 a0001c0010 a0001c0012 a0001c0020 a0002c0003 a0002c0004 a0002c0011 a0002c0030 a0003c0002 a0003c0009 a0003c0013 a0004c0005 a0005c0016	a0001c0008t0011 a0001c0008t0040 a0001c0008t0047 others(19): Show a0001c0008t0011 a0001c0008t0040 a0001c0008t0047 a0001c0010t0004 a0001c0010t0024 a0001c0012t0006 a0001c0020t0015 a0002c0003t0002 a0002c0003t0009 a0002c0003t0031 a0002c0003t0033 a0002c0004t0003 a0002c0004t0035 a0002c0011t0007 a0002c0030t0011 a0003c0002t0001 a0003c0002t0043 a0003c0009t0017 a0003c0013t0007 a0004c0005t0002 a0004c0005t0008 a0005c0016t0001	a0001c0008t0011g0053 a0001c0008t0040g0154 a0001c0008t0047g0060 others(21): Show a0001c0008t0011g0053 a0001c0008t0040g0154 a0001c0008t0047g0060 a0001c0010t0004g0144 a0001c0010t0024g0048 a0001c0012t0006g0112 a0001c0020t0015g0125 a0002c0003t0002g0120 a0002c0003t0009g0055 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0003g0166 a0002c0004t0035g0018 a0002c0011t0007g0019 a0002c0030t0011g0047 a0003c0002t0001g0071 a0003c0002t0043g0175 a0003c0009t0017g0121 a0003c0013t0007g0011 a0004c0005t0002g0177 a0004c0005t0008g0068 a0005c0016t0001g0025	24	101	0.2376	8	c.-48 others(29): Show c.-488-31867_-488-31860dupTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16617773	A A	AAAAAAAA others(1): Show AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(37): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01361.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA19007.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0010 others(18): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0035 a0004c0014 a0004c0037 a0005c0028 a0005c0029 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 a0001c0008t0002 a0001c0008t0010 a0001c0008t0012 a0001c0008t0046 a0001c0010t0004 a0001c0012t0006 a0001c0012t0039 a0001c0019t0001 a0001c0020t0015 a0001c0042t0038 a0002c0003t0001 a0002c0003t0013 a0002c0003t0037 a0002c0004t0003 a0002c0004t0006 a0002c0011t0007 a0002c0011t0012 a0002c0011t0027 a0002c0018t0002 a0002c0040t0006 a0003c0002t0003 a0003c0002t0041 a0003c0009t0001 a0003c0013t0001 a0003c0013t0002 a0003c0035t0001 a0004c0014t0001 a0004c0037t0001 a0005c0028t0003 a0005c0029t0034 a0006c0024t0002	a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0123 others(37): Show a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0002g0077 a0001c0001t0044g0118 a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0008t0010g0038 a0001c0008t0012g0148 a0001c0008t0046g0062 a0001c0010t0004g0069 a0001c0012t0006g0052 a0001c0012t0006g0113 a0001c0012t0039g0041 a0001c0019t0001g0024 a0001c0020t0015g0017 a0001c0042t0038g0087 a0002c0003t0001g0180 a0002c0003t0013g0027 a0002c0003t0037g0150 a0002c0004t0003g0051 a0002c0004t0003g0114 a0002c0004t0006g0010 a0002c0011t0007g0155 a0002c0011t0012g0135 a0002c0011t0027g0134 a0002c0018t0002g0004 a0002c0040t0006g0132 a0003c0002t0003g0061 a0003c0002t0003g0133 a0003c0002t0041g0079 a0003c0009t0001g0080 a0003c0013t0001g0117 a0003c0013t0002g0029 a0003c0035t0001g0115 a0004c0014t0001g0157 a0004c0037t0001g0016 a0005c0028t0003g0149 a0005c0029t0034g0139 a0006c0024t0002g0170	40	180	0.2222	8	c.-48 others(29): Show c.-488-31867_-488-31866insCTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16644563	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18955.hp1 HG02451.hp2 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0002 a0002c0011t0042 a0001c0001t0002 a0002c0011t0042	a0001c0001t0002g0129 a0002c0011t0042g0026 a0001c0001t0002g0129 a0002c0011t0042g0026	2	85	0.0235	8	c.-48 others(29): Show c.-489+13205_-489+13212dupACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16658453	C C	CTTGATAA others(1): Show CTTGATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0010 others(36): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0002c0030 a0002c0031 a0002c0039 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0003c0035 a0003c0036 a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0037 a0005c0007 a0005c0016 a0005c0017 a0005c0028 a0005c0029 a0005c0038 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 a0001c0008t0011 a0001c0008t0012 a0001c0008t0040 a0001c0008t0046 a0001c0008t0047 a0001c0010t0004 a0001c0010t0023 a0001c0010t0024 a0001c0012t0006 a0001c0012t0039 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0032t0018 a0001c0033t0001 a0001c0034t0004 a0001c0041t0036 a0001c0042t0038 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0013 a0002c0003t0021 a0002c0003t0022 a0002c0003t0031 a0002c0003t0033 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0009 a0002c0004t0035 a0002c0004t0049 a0002c0011t0007 a0002c0011t0012 a0002c0011t0042 a0002c0018t0002 a0002c0018t0045 a0002c0030t0011 a0002c0031t0010 a0002c0039t0012 a0002c0040t0006 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0008 a0003c0002t0009 a0003c0002t0041 a0003c0002t0043 a0003c0009t0001 a0003c0009t0017 a0003c0013t0001 a0003c0013t0002 a0003c0013t0007 a0003c0015t0004 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0003c0035t0001 a0003c0036t0004 a0004c0005t0002 a0004c0005t0008 a0004c0005t0026 a0004c0005t0032 a0004c0006t0002 a0004c0014t0001 a0004c0023t0002 a0004c0037t0001 a0005c0007t0001 a0005c0007t0005 a0005c0007t0019 a0005c0016t0001 a0005c0017t0001 a0005c0028t0003 a0005c0029t0034 a0005c0038t0018 a0006c0024t0002	a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 others(141): Show a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0001t0044g0118 a0001c0008t0001g0009 a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0012g0148 a0001c0008t0040g0154 a0001c0008t0046g0062 a0001c0008t0047g0060 a0001c0010t0004g0069 a0001c0010t0004g0144 a0001c0010t0023g0023 a0001c0010t0024g0048 a0001c0012t0006g0008 a0001c0012t0006g0052 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0039g0041 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0019t0001g0107 a0001c0020t0015g0017 a0001c0020t0015g0125 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0034t0004g0065 a0001c0041t0036g0095 a0001c0042t0038g0087 a0002c0003t0001g0042 a0002c0003t0001g0109 a0002c0003t0001g0180 a0002c0003t0002g0120 a0002c0003t0009g0055 a0002c0003t0013g0027 a0002c0003t0021g0003 a0002c0003t0022g0119 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0164 a0002c0004t0003g0006 a0002c0004t0003g0051 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0003g0114 a0002c0004t0003g0166 a0002c0004t0006g0010 a0002c0004t0009g0163 a0002c0004t0035g0018 a0002c0004t0049g0005 a0002c0011t0007g0019 a0002c0011t0007g0151 a0002c0011t0007g0155 a0002c0011t0012g0135 a0002c0011t0042g0026 a0002c0018t0002g0004 a0002c0018t0045g0147 a0002c0030t0011g0047 a0002c0031t0010g0173 a0002c0039t0012g0030 a0002c0040t0006g0132 a0003c0002t0001g0071 a0003c0002t0002g0090 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0003g0133 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0041g0079 a0003c0002t0043g0175 a0003c0009t0001g0073 a0003c0009t0001g0080 a0003c0009t0001g0084 a0003c0009t0001g0174 a0003c0009t0001g0182 a0003c0009t0017g0121 a0003c0009t0017g0179 a0003c0013t0001g0117 a0003c0013t0002g0029 a0003c0013t0007g0011 a0003c0015t0004g0171 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0104 a0003c0035t0001g0115 a0003c0036t0004g0067 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0005t0026g0088 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0124 a0004c0006t0002g0162 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0014t0001g0152 a0004c0014t0001g0157 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0037t0001g0016 a0005c0007t0001g0098 a0005c0007t0005g0036 a0005c0007t0005g0078 a0005c0007t0005g0092 a0005c0007t0019g0001 a0005c0016t0001g0025 a0005c0016t0001g0127 a0005c0017t0001g0074 a0005c0017t0001g0143 a0005c0028t0003g0149 a0005c0029t0034g0139 a0005c0038t0018g0054 a0006c0024t0002g0170	144	180	0.8000	8	c.-61 others(25): Show c.-614-560_-614-553dupTTTATCAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar

Search by Variant

Search

Search Results