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
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGAA others(17): Show AGGAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	118	0.0085	24	c.-5+ others(39): Show c.-5+6378_-5+6379insCTTCCTTCCTTCCTTCCTTCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(17): Show AGGAAGGAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0152 a0001c0002t0011g0152	1	118	0.0085	24	c.-5+ others(39): Show c.-5+6378_-5+6379insCTTCCTTCCTTCCTTCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19091.hp1 HG02071.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0146 a0001c0002t0003g0140 a0001c0001t0002g0146 a0001c0002t0003g0140	2	119	0.0168	24	c.-5+ others(39): Show c.-5+6378_-5+6379insCTTCCTTCCTTCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19054.hp1 NA19066.hp1 NA18995.hp2 NA19054.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0010 a0001c0001t0007 a0001c0002t0001 a0001c0002t0010	a0001c0001t0007g0142 a0001c0002t0001g0137 a0001c0002t0010g0138 a0001c0001t0007g0142 a0001c0002t0001g0137 a0001c0002t0010g0138	3	120	0.0250	24	c.-5+ others(39): Show c.-5+6378_-5+6379insCTTCCTTCTTCCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	118	0.0085	24	c.-5+ others(39): Show c.-5+6378_-5+6379insCTTCTTCCTTCCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX9_chr17_72116020_72131416	72120812	C C	CCCCACCC others(17): Show CCCCACCCTACCGTCCGCCCTTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	400	0.0025	24	c.-58 others(33): Show c.-580_-579insCCCACCCTACCGTCCGCCCTTTGG	SOX9	ENSG00000125398.8	transcript	ENST00000245479.3	protein_coding		207		chr17	TogoVar
SP100_chr2_230411201_230550606	230546455	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0127 a0001c0001t0005g0093 a0001c0001t0005g0127	2	266	0.0075	24	c.35 others(35): Show c.3509_*3510insATATATATATATATATATATATAT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		850		chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03669.hp1 NA18960.hp2 others(3): Show HG02976.hp2 HG03669.hp1 NA18960.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0013	a0001c0001 a0004c0004 a0005c0006 others(1): Show a0001c0001 a0004c0004 a0005c0006 a0013c0016	a0001c0001t0002 a0001c0001t0021 a0001c0001t0048 others(3): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0048 a0004c0004t0010 a0005c0006t0005 a0013c0016t0054	a0001c0001t0002g0050 a0001c0001t0021g0267 a0001c0001t0048g0266 others(3): Show a0001c0001t0002g0050 a0001c0001t0021g0267 a0001c0001t0048g0266 a0004c0004t0010g0242 a0005c0006t0005g0021 a0013c0016t0054g0187	6	41	0.1463	24	c.898 others(41): Show c.898+1372_898+1395dupTATATATATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354848	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	132	0.0076	24	c.108 others(41): Show c.108-2931_108-2908dupAAAGAAAGAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp2 HG02080.hp1 others(4): Show HG00323.hp1 HG01433.hp2 HG02080.hp1 HG02738.hp2 HG03017.hp2 HG03453.hp2 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 others(1): Show a0001c0001 a0001c0006 a0003c0004 a0003c0005	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0003c0004t0003 a0003c0005t0003	a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0006t0001g0045 others(4): Show a0001c0001t0001g0286 a0001c0001t0001g0296 a0001c0006t0001g0045 a0001c0006t0002g0007 a0003c0004t0003g0041 a0003c0004t0003g0043 a0003c0005t0003g0166	7	174	0.0402	24	c.124 others(43): Show c.1240+4241_1240+4264dupTATATATATATATATATATATATA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307955	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	241	0.0041	24	c.205 others(43): Show c.2059-1956_2059-1933dupTATATATATATATATATATATATA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02258.hp1 HG02735.hp1 HG01358.hp2 HG02258.hp1 HG02735.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0001c0006 a0003c0004	a0001c0006t0001 a0003c0004t0003 a0001c0006t0001 a0003c0004t0003	a0001c0006t0001g0036 a0001c0006t0001g0039 a0003c0004t0003g0030 a0001c0006t0001g0036 a0001c0006t0001g0039 a0003c0004t0003g0030	3	269	0.0112	24	c.205 others(43): Show c.2059-1933_2059-1932insTATATATATATATATATATATACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173933638	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19087.hp2 HG02818.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0023 a0001c0001t0034g0022 a0001c0001t0005g0023 a0001c0001t0034g0022	2	89	0.0225	24	c.164 others(45): Show c.1640-14877_1640-14854dupTATATATATATATATATATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0113 a0001c0001t0072g0113	1	18	0.0556	24	c.163 others(45): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906595	A A	ACCACCAC others(17): Show ACCACCACCACCACCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	412	0.0024	24	c.-32 others(35): Show c.-3277_-3276insCCACCACCACCACCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2894		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906595	A A	ACCACCAC others(17): Show ACCACCACCACCCCCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	412	0.0024	24	c.-32 others(35): Show c.-3277_-3276insCCACCACCACCCCCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2894		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCAC others(17): Show ACCACCACCACCACCACCCCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	369	0.0027	24	c.-32 others(35): Show c.-3274_-3273insCCACCACCACCACCACCCCCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	190	0.0053	24	c.-42 others(35): Show c.-4275_-4274insAAAAAAAAAAAAATATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135184	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	247	0.0081	24	c.26 others(35): Show c.2655_*2656insAAAAAAAAAAAAAAAAAAAAAAAA	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2565		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135281	G G	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	208	0.0048	24	c.27 others(35): Show c.2752_*2753insCTTTCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2662		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135289	G G	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG03927.hp1 HG00280.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	61	0.0328	24	c.27 others(35): Show c.2760_*2761insCTTTCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2670		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48013031	G G	GCTTGCTT others(17): Show GCTTGCTTGCTTGCTTGCTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	275	0.0036	24	c.33 others(35): Show c.3386_*3387insCTTGCTTGCTTGCTTGCTTCCTTT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3299		chrX	TogoVar
SPACA6_chr19_51688330_51710190	51694303	G G	GGAGGATA others(17): Show GGAGGATAGAGACTCACAGAGAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp1 others(120): Show HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19059.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19084.hp2 NA19087.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004 a0003c0005 a0005c0007 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0002c0004t0001 a0003c0005t0001 a0005c0007t0001 a0006c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0003t0001g0062 a0001c0008t0001g0050 a0002c0004t0001g0018 a0002c0004t0001g0031 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0003c0005t0001g0032 a0005c0007t0001g0016 a0006c0012t0001g0064	123	414	0.2971	24	c.215 others(39): Show c.215-162_215-161insCACAGAGAGGTGAGGATAGAGACT	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	210	0.0048	24	c.94+ others(39): Show c.94+6566_94+6567insGAGAGAGAGAGAGAGAGAGAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02293.hp2 NA18964.hp1 others(2): Show HG00673.hp2 HG02293.hp2 NA18964.hp1 NA18964.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0198 a0001c0001t0001g0199	5	37	0.1351	24	c.388 others(39): Show c.388-842_388-819dupCACACACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0085 a0005c0004t0001g0085	1	4	0.2500	24	c.23 others(35): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 NA19064.hp2 NA19091.hp2 HG02293.hp1 NA19064.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0142 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0142	3	8	0.3750	24	c.23 others(35): Show c.2387_*2410dupTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	54	0.0185	24	c.107 others(47): Show c.1070+152736_1070+152759dupAAAAAAAAAAAAAAAAAAAAAA AA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213800327	C C	CCTCCCTC others(17): Show CCTCCCTCTCTCCCTCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	71	0.0141	24	c.107 others(45): Show c.1071-62135_1071-62112dupCTCTCCCTCTCTCCCTCTCTCCCT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(17): Show TATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	42	0.0238	24	c.140 others(45): Show c.1401-37815_1401-37814insTATATATATACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214059186	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	29	0.0345	24	c.152 others(45): Show c.1527+45115_1527+45138dupATATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214059222	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	24	0.0417	24	c.152 others(45): Show c.1527+45164_1527+45165insATATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214149075	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0032	1	51	0.0196	24	c.159 others(39): Show c.1594-64_1594-63insATATATATATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp1 NA20300.hp1 HG02717.hp1 NA19030.hp1 NA20300.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0003c0003t0001 a0006c0006t0001 a0001c0001t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0069 a0003c0003t0001g0080 a0006c0006t0001g0082 a0001c0001t0001g0069 a0003c0003t0001g0080 a0006c0006t0001g0082	3	33	0.0909	24	c.172 others(45): Show c.1720+46046_1720+46069dupGATAGATAGATAGATAGATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214269681	G G	GGGGTGGT others(17): Show GGGGTGGTGAAACATATGTCATGTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	86	0.0116	24	c.172 others(47): Show c.1720+120417_1720+120440dupGGTGGTGAAACATATGTCATGT AG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214288752	C C	CTTATTTA others(17): Show CTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	56	0.0179	24	c.172 others(47): Show c.1721-121377_1721-121354dupATTTATTTATTTATTTATTTAT TT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214319200	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	17	0.0588	24	c.172 others(45): Show c.1721-90939_1721-90916dupCACACACACACACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352565	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG03130.hp2 others(2): Show HG02886.hp1 HG02895.hp1 HG03130.hp2 HG03195.hp2 HG06807.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0002c0002t0001 a0008c0010t0001 a0001c0001t0001 a0002c0002t0001 a0008c0010t0001	a0001c0001t0001g0079 a0002c0002t0001g0010 a0002c0002t0001g0011 others(2): Show a0001c0001t0001g0079 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0077 a0008c0010t0001g0002	5	66	0.0758	24	c.172 others(45): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGAGTGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089332	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02723.hp1 HG03453.hp2 others(1): Show HG00741.hp1 HG02723.hp1 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0205 a0001c0004t0001g0209 others(1): Show a0001c0004t0001g0145 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0213	4	163	0.0245	24	c.135 others(43): Show c.1359+2273_1359+2274insACACACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp1 NA20300.hp2 HG02109.hp1 HG03139.hp1 NA20300.hp2	a0008 a0028 a0008 a0028	a0008c0017 a0028c0034 a0008c0017 a0028c0034	a0008c0017t0001 a0028c0034t0001 a0008c0017t0001 a0028c0034t0001	a0008c0017t0001g0015 a0008c0017t0001g0016 a0028c0034t0001g0053 a0008c0017t0001g0015 a0008c0017t0001g0016 a0028c0034t0001g0053	3	209	0.0144	24	c.135 others(43): Show c.1359+2251_1359+2252insTCACACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118103840	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0027 a0027	a0027c0041 a0027c0041	a0027c0041t0001 a0027c0041t0001	a0027c0041t0001g0093 a0027c0041t0001g0093	1	4	0.2500	24	c.448 others(41): Show c.448-1938_448-1915dupACACACACACACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48			chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(16): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00735.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG02056.hp1 HG02109.hp2 HG02622.hp2 HG02895.hp2 HG03017.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG04115.hp2 NA18943.hp1 NA18955.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0008 a0003c0004 a0003c0006 others(1): Show a0001c0008 a0003c0004 a0003c0006 a0008c0019	a0001c0008t0002 a0003c0004t0001 a0003c0004t0005 others(2): Show a0001c0008t0002 a0003c0004t0001 a0003c0004t0005 a0003c0006t0001 a0008c0019t0001	a0001c0008t0002g0091 a0001c0008t0002g0216 a0001c0008t0002g0244 others(14): Show a0001c0008t0002g0091 a0001c0008t0002g0216 a0001c0008t0002g0244 a0003c0004t0001g0001 a0003c0004t0001g0025 a0003c0004t0001g0042 a0003c0004t0001g0043 a0003c0004t0001g0044 a0003c0004t0001g0045 a0003c0004t0001g0046 a0003c0004t0001g0047 a0003c0004t0001g0080 a0003c0004t0005g0251 a0003c0006t0001g0048 a0003c0006t0001g0050 a0003c0006t0001g0073 a0008c0019t0001g0049	19	130	0.1462	24	c.300 others(41): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02040.hp1 NA18962.hp2 others(5): Show HG01975.hp1 HG02040.hp1 NA18962.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	8	122	0.0656	24	c.-58 others(33): Show c.-580_-579insAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0140 a0013c0010t0001g0140	1	136	0.0074	24	c.-18 others(35): Show c.-1805_-1804insATATATATATTTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA21309.hp1 HG01361.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0106 a0001c0001t0001g0022 a0001c0001t0001g0106	2	137	0.0146	24	c.-18 others(35): Show c.-1805_-1804insATATATATATATTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	136	0.0074	24	c.-18 others(35): Show c.-1805_-1804insATATATATATATATATATTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	136	0.0074	24	c.-18 others(35): Show c.-1805_-1804insATATATATATATATATATATTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	136	0.0074	24	c.-18 others(35): Show c.-1805_-1804insATATATATATATATATATATATTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600765	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	291	0.0034	24	c.-18 others(35): Show c.-1820_-1819insAAAATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1741		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	78	0.0128	24	c.146 others(43): Show c.1460+2532_1460+2533insATATATATATATATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

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