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
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(37): Show TATATATATATACACACACACACACACACACACACATATACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 NA20905.hp1 HG00735.hp1 HG01433.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0225 a0001c0002t0003g0231 a0001c0002t0012g0233 a0001c0002t0003g0225 a0001c0002t0003g0231 a0001c0002t0012g0233	3	78	0.0385	44	c.339 others(63): Show c.3394+1509_3394+1510insGTGTGTATATGTGTGTGTGTGTGTGT GTGTGTGTATATATATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar
ATG10_chr5_81967023_82261133	81993336	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0163 a0001c0001t0044g0163	1	94	0.0106	44	c.108 others(61): Show c.108+5661_108+5662insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(37): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0194 a0003c0003t0001g0178 a0003c0003t0001g0194	2	150	0.0133	44	c.108 others(61): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	149	0.0067	44	c.108 others(61): Show c.108+5681_108+5682insTTTCTTTCTTTCTTTCCTTCTTTCTTTC TTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAATATA others(37): Show AAAATATATATATTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	190	0.0053	44	c.222 others(61): Show c.222-5493_222-5492insATATATATATATATATATATATATATAT ATAAATATATATATTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATL2_chr2_38288954_38382273	38334931	A A	ATAATATA others(37): Show ATAATATATAAATATATTTATATATTATAATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02040.hp1 HG00323.hp2 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0001g0164 a0002c0002t0001g0172	2	234	0.0085	44	c.363 others(61): Show c.363+8336_363+8337insAAATATATTTATATATTATAATATATAA ATATATTTATATATTA	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TATATTAT others(37): Show TATATTATATATACATGTATATATAATATATTATATATACATGTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01099.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0009 a0001c0001t0002g0010	2	89	0.0225	44	c.676 others(61): Show c.676-3634_676-3633insTACATGTATATATAATATATTATATATA CATGTATATATAATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(37): Show TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0024 a0001c0021t0024	a0001c0021t0024g0047 a0001c0021t0024g0048 a0001c0021t0024g0047 a0001c0021t0024g0048	2	144	0.0139	44	c.163 others(59): Show c.163-912_163-911insCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804148	C C	CCCTCCTT others(37): Show CCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCCCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0054 a0001c0002t0015g0054	1	220	0.0045	44	c.163 others(59): Show c.163-799_163-798insCTCCTTTTCCTCCTTCCCTCCTTCCCCTCC TTTTCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B3_chrX_153512642_153587929	153584577	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0080 a0001c0003t0002g0080	1	250	0.0040	44	c.42 others(55): Show c.4279_*4280insAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1649		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	2	0.5000	44	c.42 others(55): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19012.hp1 NA19075.hp1 others(2): Show NA18990.hp1 NA19012.hp1 NA19075.hp1 NA19086.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003	a0001c0001t0005g0201 a0001c0002t0001g0001 a0001c0002t0001g0170 others(1): Show a0001c0001t0005g0201 a0001c0002t0001g0001 a0001c0002t0001g0170 a0001c0002t0003g0004	5	6	0.8333	44	c.42 others(55): Show c.4283_*4284insAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA20805.hp1 HG04228.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0194 a0001c0002t0002g0181 a0001c0001t0001g0194 a0001c0002t0002g0181	2	3	0.6667	44	c.42 others(55): Show c.4283_*4284insAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584581	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	2	0.5000	44	c.42 others(55): Show c.4283_*4284insAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1653		chrX	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03540.hp1 NA18952.hp1 others(2): Show HG02080.hp2 HG03540.hp1 NA18952.hp1 NA18983.hp1 NA19082.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0007 a0004c0011 a0005c0006 others(2): Show a0001c0007 a0004c0011 a0005c0006 a0007c0017 a0007c0026	a0001c0007t0001 a0004c0011t0001 a0005c0006t0001 others(2): Show a0001c0007t0001 a0004c0011t0001 a0005c0006t0001 a0007c0017t0002 a0007c0026t0001	a0001c0007t0001g0333 a0004c0011t0001g0306 a0005c0006t0001g0051 others(2): Show a0001c0007t0001g0333 a0004c0011t0001g0306 a0005c0006t0001g0051 a0007c0017t0002g0322 a0007c0026t0001g0016	5	117	0.0427	44	c.157 others(63): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465725	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	117	0.0085	44	c.77- others(59): Show c.77-3250_77-3249insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp2 NA19030.hp1 HG02896.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057	a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070	3	38	0.0789	44	c.77- others(59): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCCCTCCCTCTC TCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02257.hp1 HG03041.hp2 others(2): Show HG01069.hp2 HG02257.hp1 HG03041.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012	a0001c0001t0013 a0001c0002t0001 a0001c0003t0010 others(2): Show a0001c0001t0013 a0001c0002t0001 a0001c0003t0010 a0001c0006t0043 a0001c0012t0002	a0001c0001t0013g0006 a0001c0002t0001g0039 a0001c0003t0010g0026 others(2): Show a0001c0001t0013g0006 a0001c0002t0001g0039 a0001c0003t0010g0026 a0001c0006t0043g0095 a0001c0012t0002g0110	5	40	0.1250	44	c.77- others(59): Show c.77-3226_77-3225insCCTCCCTCCCTCCCTCCCTCTCTCTCTCTC TCTCTCTCTTTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25710850	A A	ATCTCTTG others(37): Show ATCTCTTGATGCCATCCTAATGCCATCCTAATGGCAAATCCTAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02886.hp1 HG02886.hp2 others(6): Show HG01358.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0018	a0001c0001t0064 a0001c0005t0012 a0001c0005t0021 others(6): Show a0001c0001t0064 a0001c0005t0012 a0001c0005t0021 a0001c0005t0023 a0001c0007t0001 a0001c0007t0005 a0001c0010t0012 a0001c0010t0056 a0001c0018t0024	a0001c0001t0064g0072 a0001c0005t0012g0020 a0001c0005t0021g0030 others(6): Show a0001c0001t0064g0072 a0001c0005t0012g0020 a0001c0005t0021g0030 a0001c0005t0023g0003 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0018t0024g0066	9	120	0.0750	44	c.238 others(65): Show c.2384+11505_2384+11506insTCTCTTGATGCCATCCTAATGCCA TCCTAATGGCAAATCCTAAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36			chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57713185	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0099 a0001c0001t0008g0099	1	312	0.0032	44	c.182 others(61): Show c.182-6599_182-6598insGAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713196	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	180	0.0056	44	c.182 others(61): Show c.182-6610_182-6609insGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50085963	T T	TTATATAT others(37): Show TTATATATGATATATATCATATTTATATATGATATATATCATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	203	0.0049	44	c.29- others(61): Show c.29-11779_29-11778insTATATGATATATATCATATATAAATATG ATATATATCATATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGAAGG others(37): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG03098.hp1 HG01884.hp2 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0057 a0001c0003t0012 a0001c0003t0057	a0001c0003t0012g0085 a0001c0003t0012g0086 a0001c0003t0057g0087 a0001c0003t0012g0085 a0001c0003t0012g0086 a0001c0003t0057g0087	3	58	0.0517	44	c.166 others(63): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51635802	G G	GAGGGAGG others(37): Show GAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp2 HG02148.hp2 others(7): Show HG01256.hp2 HG01433.hp2 HG02148.hp2 HG02523.hp2 NA18957.hp1 NA18968.hp2 NA18973.hp1 NA18985.hp2 NA19043.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0022 a0001c0001t0066 a0001c0009t0007	a0001c0001t0001g0037 a0001c0001t0001g0209 a0001c0001t0001g0239 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0209 a0001c0001t0001g0239 a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0003g0219 a0001c0001t0006g0302 a0001c0001t0022g0018 a0001c0001t0066g0266 a0001c0009t0007g0232	10	65	0.1538	44	c.166 others(63): Show c.1668+3540_1668+3541insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTTCCTCCCT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0013 a0004c0016t0013	a0004c0016t0013g0167 a0004c0016t0013g0167	1	52	0.0192	44	c.346 others(61): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TATATATATATAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ACATATAT others(37): Show ACATATATATATATATGTATATATATATACATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0202	1	302	0.0033	44	c.589 others(59): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATATG	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATACATAT others(37): Show ATACATATATATATATGTATATATATATACATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0203 a0001c0004t0001g0203	1	302	0.0033	44	c.589 others(59): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATATGTA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496322	A A	ATATACAT others(37): Show ATATACATATATATATGTATATATATATACATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	302	0.0033	44	c.589 others(59): Show c.5898+38_5898+39insCATATATATATACATGTATATATATATACA TATATATATGTATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(37): Show GTGTGTGTATGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0069 a0001c0001t0014g0069	1	190	0.0053	44	c.578 others(59): Show c.578+490_578+491insTATATATATATATATATATATATATATATA CACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(37): Show GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG03942.hp2 others(11): Show HG02027.hp2 HG02071.hp1 HG03942.hp2 NA18943.hp2 NA18945.hp1 NA18954.hp2 NA18957.hp1 NA18989.hp2 NA18995.hp2 NA19056.hp1 NA19066.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0049	a0001c0001t0001g0029 a0001c0001t0003g0042 a0001c0001t0003g0048 others(11): Show a0001c0001t0001g0029 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0003g0152 a0001c0001t0003g0179 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0004g0023 a0001c0001t0008g0046 a0001c0001t0009g0055 a0001c0001t0009g0103 a0001c0001t0010g0051 a0001c0001t0049g0087	14	203	0.0690	44	c.578 others(59): Show c.578+490_578+491insTATATATATATATATATATATATATATACA CACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(37): Show GTGTGTGTATGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0160 a0001c0001t0038g0160	1	190	0.0053	44	c.578 others(59): Show c.578+490_578+491insTATATATATATATATATATATATATACACA CACACATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19079.hp1 NA19074.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0249 a0001c0001t0001g0045 a0001c0001t0001g0249	2	133	0.0150	44	c.356 others(63): Show c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGGAAGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733865	T T	TCCATCCA others(37): Show TCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01099.hp1 others(48): Show HG00558.hp1 HG00558.hp2 HG01099.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03239.hp2 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18989.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19067.hp2 NA19074.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0053 a0001c0008t0005 a0002c0002t0016 a0007c0010t0027	a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0057 others(48): Show a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0002g0181 a0001c0001t0003g0010 a0001c0001t0003g0053 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0165 a0001c0001t0006g0158 a0001c0001t0006g0248 a0001c0001t0007g0001 a0001c0001t0007g0022 a0001c0001t0008g0063 a0001c0001t0009g0013 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0011g0151 a0001c0001t0011g0169 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0013g0019 a0001c0001t0014g0139 a0001c0001t0015g0213 a0001c0001t0016g0224 a0001c0001t0025g0215 a0001c0001t0028g0041 a0001c0001t0037g0195 a0001c0001t0039g0105 a0001c0001t0041g0138 a0001c0001t0044g0148 a0001c0001t0053g0018 a0001c0008t0005g0164 a0002c0002t0016g0220 a0007c0010t0027g0204	51	243	0.2099	44	c.355 others(63): Show c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA GCATAGATGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18522.hp1 NA18980.hp1 HG02135.hp2 NA18522.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0002c0002t0001g0014 a0001c0001t0001g0010 a0001c0001t0001g0012 a0002c0002t0001g0014	3	215	0.0140	44	c.-41 others(55): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT ATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	213	0.0047	44	c.-41 others(55): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT ATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	213	0.0047	44	c.-41 others(55): Show c.-4104_-4103insGTATATATATATATATATATATATATATATATAT ATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	51	0.0196	44	c.309 others(63): Show c.309+14405_309+14406insCTTTCTTTCTTTTCTTTTCTTTCTTT TCTTTCTTTCTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69614367	T T	TCTTTCTT others(37): Show TCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	51	0.0196	44	c.309 others(63): Show c.309+14405_309+14406insCTTTCTTTTCTTTCTTTTCTTTCTTT TCTTTCTTTCTTTCTTTC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTGTTT others(37): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0024 a0001c0004t0013g0024	1	28	0.0357	44	c.523 others(63): Show c.523-64585_523-64584insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70491462	A A	ATATACAC others(37): Show ATATACACATAATATATATGTTATATATACACATAATATATATGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG01175.hp2 others(7): Show HG00597.hp1 HG01081.hp2 HG01175.hp2 HG01934.hp1 HG02258.hp1 HG02615.hp1 HG02717.hp1 HG03041.hp2 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0001t0029 a0001c0003t0008	a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0071 others(7): Show a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0004g0042 a0001c0001t0004g0054 a0001c0001t0005g0015 a0001c0001t0014g0070 a0001c0001t0018g0001 a0001c0001t0029g0022 a0001c0003t0008g0039	10	76	0.1316	44	c.690 others(63): Show c.690+55685_690+55686insCACATAATATATATGTTATATATACA CATAATATATATGTTATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	6	0.1667	44	c.446 others(63): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
B3GALT5_chr21_39607940_39678137	39639400	T T	TTCTCTTT others(37): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	175	0.0057	44	c.-39 others(63): Show c.-391-6991_-391-6990insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	39	0.0256	44	c.-38 others(55): Show c.-3878_-3877insTATATATATATATATATATATATATATATATATA TATATTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG02698.hp1 HG00140.hp1 HG01255.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0014g0184 a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0014g0184	3	60	0.0500	44	c.106 others(63): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALT6_chr18_31617246_31689581	31688261	A A	ATATATAT others(37): Show ATATATATATACGTATATATATATACATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02451.hp1 HG01109.hp1 HG02109.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0273 a0001c0001t0005g0014 a0001c0001t0005g0273	3	285	0.0105	44	c.-38 others(55): Show c.-3836_-3835insCATATATATATATATATATGTATATATATATACG TATATATATA	B4GALT6	ENSG00000118276.12	transcript	ENST00000306851.10	protein_coding		3681		chr18	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	74	0.0135	44	c.571 others(63): Show c.571-17071_571-17070insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG02258.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0147 a0001c0001t0003g0106 a0001c0001t0002g0147 a0001c0001t0003g0106	2	75	0.0267	44	c.571 others(63): Show c.571-17071_571-17070insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG3_chr10_119646380_119682819	119675877	T T	TCCCCTTC others(37): Show TCCCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	360	0.0028	44	c.910 others(59): Show c.910-567_910-566insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCCTTCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675903	C C	CTTTTCCC others(37): Show CTTTTCCCCCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0075 a0002c0003t0002g0075	1	405	0.0025	44	c.910 others(59): Show c.910-561_910-560insTTTTCCCCCCTTCCCCCCTTCCTTCCTTCC TTCCTTCCTTCCTT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3			chr10	TogoVar
BAG3_chr10_119646380_119682819	119675907	T T	TCCCCTTT others(37): Show TCCCCTTTTCCCCCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0227 a0001c0001t0006g0299 a0001c0001t0001g0227 a0001c0001t0006g0299	2	311	0.0064	44	c.910 others(59): Show c.910-555_910-554insCCTTTTCCCCCCTTCCCCCCTTCCTTCCTT CCTTCCTTCCCCCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar

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