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
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0244 a0005c0005t0001g0244	1	190	0.0053	26	c.138 others(43): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG02056.hp1 others(1): Show HG00323.hp1 HG01261.hp2 HG02056.hp1 HG02523.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0085 a0005c0005 a0001c0001 a0002c0085 a0005c0005	a0001c0001t0001 a0002c0085t0002 a0005c0005t0001 a0001c0001t0001 a0002c0085t0002 a0005c0005t0001	a0001c0001t0001g0095 a0002c0085t0002g0204 a0005c0005t0001g0201 others(1): Show a0001c0001t0001g0095 a0002c0085t0002g0204 a0005c0005t0001g0201 a0005c0005t0001g0245	4	193	0.0207	26	c.138 others(43): Show c.1387+451_1387+452insATATATATATATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55508869	T T	TGGCCTCA others(19): Show TGGCCTCATCCACAGGGGATGGGGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG04115.hp2 HG01346.hp1 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0019 a0002c0003t0003g0007 a0002c0003t0003g0019	2	410	0.0049	26	c.278 others(45): Show c.2786-4135_2786-4110dupATCCACAGGGGATGGGGGGAGGCCTC	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108774690	G G	GCAGCCTC others(19): Show GCAGCCTCCACCTCCCGGGTTCAAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	330	0.0030	26	c.13 others(39): Show c.13297_*13298insTGCTTGAACCCGGGAGGTGGAGGCTG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding		3500		chr12	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAATTATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	85	0.0118	26	c.63+ others(43): Show c.63+16590_63+16591insATATATAATTTTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAATTATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02132.hp1 NA20752.hp1 HG00099.hp2 HG02132.hp1 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0011c0011t0001 a0001c0001t0001 a0011c0011t0001	a0001c0001t0001g0061 a0001c0001t0001g0083 a0011c0011t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0083 a0011c0011t0001g0022	3	87	0.0345	26	c.63+ others(43): Show c.63+16590_63+16591insATATATATAATTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02280.hp2 HG01169.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0054 a0001c0001t0025g0056 a0001c0001t0001g0054 a0001c0001t0025g0056	2	86	0.0233	26	c.63+ others(43): Show c.63+16590_63+16591insATATATATATAATTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201031	A A	ATATTATA others(19): Show ATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	332	0.0030	26	c.279 others(43): Show c.279+5083_279+5084insTATATATATATATATATATATATTAT	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26233331	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0162 a0001c0002t0033g0162	1	135	0.0074	26	c.22 others(37): Show c.2274_*2275insTATATATATATATATATATATATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	3/3	2275	INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26233355	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0259 a0004c0007t0031g0259	1	297	0.0034	26	c.22 others(37): Show c.2280_*2281insTATATATATATATATATATATATACA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	3/3	2281	INFO_REALIGN_3_PRIME	chr12	TogoVar
SSR1_chr6_7276143_7318199	7296645	G G	GGAGGGAA others(19): Show GGAGGGAAGGAAAGGAGGAGGGTGAGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	402	0.0025	26	c.700 others(43): Show c.700-1186_700-1161dupACTCACCCTCCTCCTTTCCTTCCCTC	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding	6/7			chr6	TogoVar
SSTR1_chr14_38202904_38218067	38204786	T T	TGGGGGGG others(19): Show TGGGGGGGGGCTAGGGGGGGCGGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	454	0.0022	26	c.-38 others(37): Show c.-3830_-3829insGGGGGGGGGCTAGGGGGGGCGGGGTA	SSTR1	ENSG00000139874.6	transcript	ENST00000267377.3	protein_coding		3117		chr14	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0034 a0001c0001t0150g0034	1	76	0.0132	26	c.15 others(37): Show c.1503_*1528dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01257.hp2 others(7): Show HG00733.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG02109.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp2 HG03834.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	10	293	0.0341	26	c.20 others(37): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAAAAAAA	SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding		1353		chr7	TogoVar
SSX4B_chrX_48397082_48416960	48414092	C C	CGGAAGGG others(19): Show CGGAAGGGAAGAAGGAAGGGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03471.hp1 NA18906.hp1 HG02451.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0050	3	180	0.0167	26	c.-22 others(37): Show c.-2252_-2251insCTTTCTTCCCTTCCTTCTTCCCTTCC	SSX4B	ENSG00000269791.6	transcript	ENST00000595235.6	protein_coding		2133		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381301	A A	ATCTTCCC others(19): Show ATCTTCCCTTCCCTTTCTTCCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02630.hp2 NA18906.hp1 others(1): Show HG01884.hp2 HG02630.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0030	4	103	0.0388	26	c.-22 others(37): Show c.-2284_-2283insTCTTCCCTTCCCTTTCTTCCCTTCCT	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2237		chrX	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01515.hp1 HG02965.hp1 others(7): Show HG01258.hp2 HG01515.hp1 HG02965.hp1 NA18949.hp2 NA18969.hp2 NA18975.hp1 NA18984.hp1 NA18992.hp1 NA19000.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0039 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0003g0009 a0001c0001t0003g0056 a0001c0001t0003g0198 a0001c0001t0003g0200	10	154	0.0649	26	c.58 others(37): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133540836	G G	GACATATA others(19): Show GACATATATATAGAGAGACATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0285 a0001c0004t0003g0285	1	198	0.0051	26	c.-42 others(45): Show c.-429+4937_-429+4938insATATATATGTCTCTCTATATATATGT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540984	T T	TATAGACA others(19): Show TATAGACATATATAGACATATATAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0073 a0003c0006t0073	a0003c0006t0073g0139 a0003c0006t0073g0139	1	330	0.0030	26	c.-42 others(45): Show c.-429+4789_-429+4790insGTCTATATATGTCTATATATGTCTAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0079 a0001c0003t0079	a0001c0003t0079g0310 a0001c0003t0079g0310	1	45	0.0222	26	c.-42 others(45): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTCTAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0042 a0001c0001t0001 a0001c0002t0042	a0001c0001t0001g0052 a0001c0002t0042g0004 a0001c0001t0001g0052 a0001c0002t0042g0004	2	46	0.0435	26	c.-42 others(45): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0058 a0003c0012t0058	a0003c0012t0058g0135 a0003c0012t0058g0135	1	45	0.0222	26	c.-42 others(45): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTATATATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541147	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA20300.hp2 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0088 a0001c0002t0002g0028 a0001c0001t0001g0088 a0001c0002t0002g0028	2	278	0.0072	26	c.-42 others(45): Show c.-429+4626_-429+4627insCCTCTCTCTCTCTCTCTCTCTCTCTC	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133562841	C C	CCTTCCTT others(19): Show CCTTCCTTCCTTCCTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG02717.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0079 a0001c0003t0024 a0001c0003t0079	a0001c0003t0024g0298 a0001c0003t0079g0310 a0001c0003t0024g0298 a0001c0003t0079g0310	2	157	0.0127	26	c.-58 others(45): Show c.-582+8851_-582+8852insAAAGAAAAAGAAAGGAAGGAAGGAAG	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76183851	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	25	0.0400	26	c.18+ others(45): Show c.18+108989_18+108990insATATATATATATATATATATATATAT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC4_chr9_127902886_127922041	127920810	C C	CCATGAAG others(19): Show CCATGAAGGCAGAATCTGTGCCACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0023	26	c.-40 others(37): Show c.-4061_-4060insCAAGTGGCACAGATTCTGCCTTCATG	ST6GALNAC4	ENSG00000136840.19	transcript	ENST00000335791.10	protein_coding		3770		chr9	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76936953	G G	GGCGTGTG others(19): Show GGCGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19010.hp1 NA19007.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0051 a0001c0001t0002g0052	2	48	0.0417	26	c.261 others(45): Show c.261+68212_261+68213insCGTGTGTGTGTGTGTGTGTGTGTGTG	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070757	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA19091.hp1 HG02257.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0145 a0001c0001t0004g0062 a0001c0001t0004g0145	2	170	0.0118	26	c.75 others(37): Show c.7551_*7552insATATATATATATATATATATATATAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3212		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0174 a0002c0003t0014g0174	1	88	0.0114	26	c.75 others(37): Show c.7568_*7569insTATATATATATATATATATATTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7L_chr1_112518514_112624141	112570545	G G	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	94	0.0106	26	c.124 others(45): Show c.1245+6440_1245+6441insTATATATATATATATATATATACATA	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	11/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097880	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	129	0.0078	26	c.152 others(43): Show c.152-1878_152-1853dupATATATATATATATATATATATATAT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	96	0.0104	26	c.152 others(43): Show c.152-1853_152-1852insATATATATATATTTTTTTTTTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46710411	C C	CTGTCTTT others(19): Show CTGTCTTTTTCTTTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02071.hp2 others(14): Show HG00438.hp1 HG00438.hp2 HG02071.hp2 HG02080.hp1 NA18612.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18977.hp2 NA18983.hp1 NA18985.hp2 NA18994.hp2 NA19007.hp1 NA19080.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0060 a0001c0001t0077 a0001c0001t0093	a0001c0001t0001g0141 a0001c0001t0004g0317 a0001c0001t0005g0149 others(14): Show a0001c0001t0001g0141 a0001c0001t0004g0317 a0001c0001t0005g0149 a0001c0001t0006g0042 a0001c0001t0006g0099 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0208 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0008g0324 a0001c0001t0012g0093 a0001c0001t0012g0181 a0001c0001t0015g0205 a0001c0001t0060g0249 a0001c0001t0077g0126 a0001c0001t0093g0151	17	314	0.0541	26	c.132 others(43): Show c.132-5748_132-5747insAAGAAAGAGAGAGAAAGAAAAAGACA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46710413	T T	GTCTTTTT others(19): Show GTCTTTTTCTTTCTCTCTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02738.hp2 NA18950.hp2 others(8): Show HG02559.hp2 HG02738.hp2 NA18950.hp2 NA18957.hp2 NA18969.hp1 NA18974.hp2 NA19007.hp2 NA19010.hp2 NA19056.hp2 NA19072.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0029 a0001c0001t0034 a0001c0001t0058 a0001c0001t0091 a0001c0001t0111	a0001c0001t0003g0142 a0001c0001t0005g0023 a0001c0001t0005g0059 others(8): Show a0001c0001t0003g0142 a0001c0001t0005g0023 a0001c0001t0005g0059 a0001c0001t0008g0298 a0001c0001t0009g0290 a0001c0001t0015g0204 a0001c0001t0029g0146 a0001c0001t0034g0176 a0001c0001t0058g0101 a0001c0001t0091g0098 a0001c0001t0111g0270	11	223	0.0493	26	c.132 others(43): Show c.132-5749_132-5748insAAAGAAAGAGAGAGAAAGAAAAAGAC	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719718	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	360	0.0028	26	c.132 others(45): Show c.132-15055_132-15054insAAGAAAGAGAGAAAGAAAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02074.hp1 HG06807.hp2 others(6): Show HG00621.hp2 HG02074.hp1 HG06807.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA19005.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0005 a0001c0001t0028	a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 others(6): Show a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0222 a0001c0001t0028g0029	9	116	0.0776	26	c.377 others(45): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01934.hp1 others(12): Show HG00099.hp1 HG00408.hp2 HG01934.hp1 HG02074.hp2 HG02080.hp2 HG02165.hp2 HG03669.hp2 NA18951.hp2 NA18970.hp2 NA18971.hp2 NA18990.hp2 NA19010.hp1 NA19065.hp1 NA19066.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038	a0001c0001t0001g0218 a0001c0001t0002g0184 a0001c0001t0004g0062 others(12): Show a0001c0001t0001g0218 a0001c0001t0002g0184 a0001c0001t0004g0062 a0001c0001t0004g0081 a0001c0001t0004g0093 a0001c0001t0004g0147 a0001c0001t0004g0156 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0216 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0038g0095	15	208	0.0721	26	c.291 others(45): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	84	0.0119	26	c.688 others(43): Show c.688-1119_688-1118insAAAAAAAATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0014	1	84	0.0119	26	c.688 others(43): Show c.688-1119_688-1118insAAAAAATATATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18952.hp2 HG00423.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0216 a0001c0001t0003g0211 a0001c0001t0003g0216	2	159	0.0126	26	c.902 others(43): Show c.902+2012_902+2013insTATATATATATATATATATATATATA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498231	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	237	0.0042	26	c.902 others(43): Show c.902+1991_902+1992insGTATATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(19): Show TATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04115.hp2 HG02080.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0048 a0001c0001t0001g0073	2	116	0.0172	26	c.902 others(43): Show c.902+1989_902+1990insGTATGTATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01516.hp2 others(1): Show HG00099.hp1 HG01099.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063	4	118	0.0339	26	c.902 others(43): Show c.902+1989_902+1990insGTGTATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01346.hp1 others(4): Show HG00642.hp1 HG01070.hp2 HG01346.hp1 HG03486.hp2 NA19005.hp2 NA19010.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0002g0125 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0005t0001g0034	7	121	0.0579	26	c.902 others(43): Show c.902+1989_902+1990insGTATATATATATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541538	T T	TCACACAC others(19): Show TCACACACACACACACACTCACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG03017.hp1 others(1): Show HG01074.hp1 HG01099.hp1 HG03017.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0137 a0001c0002t0002g0145 others(1): Show a0001c0002t0002g0112 a0001c0002t0002g0137 a0001c0002t0002g0145 a0001c0002t0002g0150	4	93	0.0430	26	c.471 others(41): Show c.471+580_471+581insTGTGTGTGAGTGTGTGTGTGTGTGTG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136579958	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0156 a0001c0002t0005g0156	1	79	0.0127	26	c.298 others(45): Show c.298-11123_298-11098dupAAAAAAAAAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	4/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136656617	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03471.hp2 HG02015.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0003g0204 a0001c0001t0002g0009 a0001c0001t0003g0204	2	70	0.0286	26	c.-83 others(45): Show c.-83-25662_-83-25637dupCACACACACACACACACACACACACA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02683.hp2 HG03453.hp2 others(2): Show HG00738.hp2 HG02683.hp2 HG03453.hp2 NA19009.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0048	a0001c0001t0003g0178 a0001c0001t0003g0298 a0001c0001t0004g0215 others(2): Show a0001c0001t0003g0178 a0001c0001t0003g0298 a0001c0001t0004g0215 a0001c0001t0019g0214 a0001c0001t0048g0238	5	199	0.0251	26	c.41- others(41): Show c.41-8866_41-8865insATATATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159108	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	358	0.0028	26	c.41- others(41): Show c.41-8880_41-8879insGTATATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18943.hp1 NA18950.hp2 HG04184.hp2 NA18943.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0181 a0001c0001t0003g0242 a0001c0001t0024g0189 a0001c0001t0003g0181 a0001c0001t0003g0242 a0001c0001t0024g0189	3	245	0.0122	26	c.41- others(41): Show c.41-8882_41-8881insGTATATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar

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