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
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	74	0.0135	25	c.109 others(46): Show c.1098-29818_1098-29817insATATATATATATATATATATTTTT T	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47647654	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	209	0.0048	25	c.154 others(46): Show c.1545-26147_1545-26146insAGAGAGAGAGAGAGAGAGAGAGAG A	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19			chr8	TogoVar
SPIN1_chr9_88383444_88483694	88436089	G G	GTTTTCTA others(18): Show GTTTTCTAGCCCAGTTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03239.hp2 HG04228.hp2 HG02738.hp1 HG03239.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176	3	174	0.0172	25	c.52+ others(40): Show c.52+9500_52+9524dupTTTCTAGCCCAGTTTTGTTTGTTTT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	182	0.0055	25	c.-16 others(36): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18942.hp1 NA18999.hp1 others(2): Show HG02129.hp2 NA18942.hp1 NA18999.hp1 NA19083.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0206 a0001c0001t0002g0289 a0001c0001t0002g0291 others(2): Show a0001c0001t0001g0206 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0297	5	134	0.0373	25	c.391 others(40): Show c.391+298_391+322dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	138	0.0072	25	c.372 others(44): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0274 a0001c0001t0017g0274	1	138	0.0072	25	c.372 others(44): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18949.hp2 HG01069.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0304 a0001c0001t0010g0309 a0001c0001t0003g0304 a0001c0001t0010g0309	2	139	0.0144	25	c.372 others(44): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12658124	C C	CCGCCCCG others(18): Show CCGCCCCGCCCCGCCTCGCCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	304	0.0033	25	c.-25 others(34): Show c.-259_-258insAGGCGGGGCGAGGCGGGGCGGGGCG	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding		18		chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(18): Show ACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19074.hp1 HG02074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0276 a0002c0002t0002g0257 a0002c0002t0002g0276	2	323	0.0062	25	c.180 others(42): Show c.1807-522_1807-521insCATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869051	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0172 a0010c0017t0001g0172	1	315	0.0032	25	c.180 others(42): Show c.1807-516_1807-515insTATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0045 a0003c0004t0001g0045	1	30	0.0333	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	30	0.0333	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	30	0.0333	25	c.180 others(42): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	30	0.0333	25	c.180 others(42): Show c.1807-513_1807-512insATATATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	30	0.0333	25	c.180 others(42): Show c.1807-514_1807-513insTATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869072	A A	ATATATAT others(18): Show ATATATATATATATATGATATATATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0014	1	223	0.0045	25	c.180 others(42): Show c.1807-492_1807-491insATATATATATATGATATATATGTAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	42	0.0238	25	c.-40 others(36): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458617	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18980.hp1 NA18943.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0215 a0001c0003t0001g0351 a0001c0001t0001g0215 a0001c0003t0001g0351	2	360	0.0056	25	c.111 others(44): Show c.1113+5415_1113+5439dupTCTTTCTTTCTTTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458621	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02698.hp1 HG02698.hp2 others(5): Show HG01175.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG04115.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0007 a0001c0023 others(3): Show a0001c0006 a0001c0007 a0001c0023 a0003c0005 a0003c0008 a0003c0016	a0001c0006t0002 a0001c0007t0003 a0001c0023t0003 others(3): Show a0001c0006t0002 a0001c0007t0003 a0001c0023t0003 a0003c0005t0001 a0003c0008t0003 a0003c0016t0002	a0001c0006t0002g0011 a0001c0006t0002g0012 a0001c0007t0003g0319 others(5): Show a0001c0006t0002g0011 a0001c0006t0002g0012 a0001c0007t0003g0319 a0001c0023t0003g0053 a0003c0005t0001g0234 a0003c0005t0001g0310 a0003c0008t0003g0119 a0003c0016t0002g0082	8	315	0.0254	25	c.111 others(44): Show c.1113+5419_1113+5443dupTCTTTCTTTCTTTCTTTCTTTCTTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	35	0.0286	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAATATATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG00423.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0237 a0002c0002t0002g0223 a0002c0002t0002g0237	2	36	0.0556	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA18961.hp1 NA18995.hp2 HG00408.hp2 NA18961.hp1 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0002g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0002g0238	3	37	0.0811	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	35	0.0286	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0167 a0001c0015t0001g0167	1	35	0.0286	25	c.-12 others(36): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166797233	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02071.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0121 a0001c0001t0002g0125	2	102	0.0196	25	c.590 others(42): Show c.590-4945_590-4944insAAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02451.hp1 others(3): Show HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0015	a0001c0001t0001g0107 a0001c0001t0002g0135 a0001c0001t0003g0025 others(3): Show a0001c0001t0001g0107 a0001c0001t0002g0135 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0003g0076 a0001c0004t0015g0001	6	67	0.0896	25	c.590 others(42): Show c.590-7895_590-7894insTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167046450	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	68	0.0147	25	c.235 others(44): Show c.235+16017_235+16041dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	7	0.1429	25	c.190 others(42): Show c.190-2501_190-2500insTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON2_chr4_1161932_1177583	1172822	C C	CCGCACCC others(18): Show CCGCACCCCTTTCTTTGTCTGTCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0005 a0007c0019t0005	a0007c0019t0005g0057 a0007c0019t0005g0057	1	430	0.0023	25	c.-30 others(34): Show c.-307_-283dupACAGACAGACAAAGAAAGGGGTGCG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		240		chr4	TogoVar
SPPL2A_chr15_50697266_50770706	50703356	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0250 a0001c0001t0095g0250	1	202	0.0050	25	c.44 others(36): Show c.4443_*4444insAAAAAAAAATATATATATATATATA	SPPL2A	ENSG00000138600.11	transcript	ENST00000261854.10	protein_coding	15/15	4443		chr15	TogoVar
SPPL3_chr12_120757510_120909358	120830580	G G	GGAAGAGA others(18): Show GGAAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	32	0.0313	25	c.24- others(42): Show c.24-19695_24-19694insTCTCTCTCTCTCTCTCTCTCTCTTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	314	0.0032	25	c.24- others(42): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852698	T T	TATATATT others(18): Show TATATATTTCATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0185 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0185	3	172	0.0174	25	c.24- others(42): Show c.24-41813_24-41812insCATATATATAATATATGAAATATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	93	0.0108	25	c.23+ others(42): Show c.23+32714_23+32715insTTTTTTTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED2_chr2_65305851_65437599	65322294	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0266 a0001c0001t0021g0266	1	142	0.0070	25	c.439 others(42): Show c.439-5412_439-5411insAAAAAAAAAAAAATATATATATATA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5			chr2	TogoVar
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	272	0.0037	25	c.-30 others(36): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCCGGG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		2931		chr19	TogoVar
SPRED3_chr19_38383697_38404587	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	272	0.0037	25	c.-30 others(36): Show c.-3047_-3046insGCCGGGGATGGGGCCGGGGCCGGGG	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding		2931		chr19	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp1 HG02040.hp1 others(14): Show HG00423.hp1 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG04199.hp1 NA18960.hp1 NA18966.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA19004.hp1 NA19007.hp1 NA19055.hp1 NA19065.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0050 a0001c0001t0060 a0001c0001t0089 a0001c0001t0091 a0001c0001t0139 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143	a0001c0001t0001g0137 a0001c0001t0004g0181 a0001c0001t0004g0184 others(14): Show a0001c0001t0001g0137 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0014g0172 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0036g0210 a0001c0001t0037g0211 a0001c0001t0038g0198 a0001c0001t0050g0173 a0001c0001t0060g0150 a0001c0001t0089g0196 a0001c0001t0091g0217 a0001c0001t0139g0229 a0001c0001t0141g0194 a0001c0001t0142g0212 a0001c0001t0143g0193	17	132	0.1288	25	c.-28 others(44): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	G G	GAAATAAA others(18): Show GAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18977.hp1 NA19062.hp1 HG03654.hp1 NA18977.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0091 a0001c0001t0117 a0001c0001t0025 a0001c0001t0091 a0001c0001t0117	a0001c0001t0025g0185 a0001c0001t0091g0217 a0001c0001t0117g0169 a0001c0001t0025g0185 a0001c0001t0091g0217 a0001c0001t0117g0169	3	30	0.1000	25	c.-28 others(46): Show c.-281-16000_-281-15976dupATAAAATAAAATAAAATAAAATAA A	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	42	0.0238	25	c.694 others(42): Show c.694+4574_694+4598dupTTTTTTTTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02523.hp1 NA19011.hp1 others(1): Show HG01258.hp2 HG02523.hp1 NA19011.hp1 NA19087.hp2	a0001 a0003 a0036 a0001 a0003 a0036	a0001c0001 a0003c0005 a0036c0084 a0001c0001 a0003c0005 a0036c0084	a0001c0001t0002 a0003c0005t0010 a0036c0084t0002 a0001c0001t0002 a0003c0005t0010 a0036c0084t0002	a0001c0001t0002g0012 a0001c0001t0002g0124 a0003c0005t0010g0097 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0124 a0003c0005t0010g0097 a0036c0084t0002g0120	4	166	0.0241	25	c.258 others(44): Show c.2587+1667_2587+1691dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	22	0.0455	25	c.-3- others(40): Show c.-3-5074_-3-5050dupAAAAAAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02683.hp1 HG02071.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0134 a0001c0002t0006g0276 a0001c0002t0001g0134 a0001c0002t0006g0276	2	137	0.0146	25	c.-47 others(42): Show c.-47-3672_-47-3671insGAGAGAGAGAGAAGAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0138 a0001c0003t0003g0138	1	365	0.0027	25	c.-47 others(42): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0278 a0001c0009t0007g0278	1	129	0.0078	25	c.149 others(44): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0011 a0001c0001t0010 a0001c0005t0011	a0001c0001t0010g0238 a0001c0005t0011g0254 a0001c0001t0010g0238 a0001c0005t0011g0254	2	93	0.0215	25	c.149 others(42): Show c.149-4241_149-4240insTTTTTTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64744771	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0220 a0002c0003t0005g0220	1	163	0.0061	25	c.45 others(36): Show c.4534_*4535insAAAAAAAAAAAAAAAAAAAAAAAAA	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding		1511		chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18954.hp2 HG02165.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0094 a0001c0001t0001g0040 a0001c0001t0001g0094	2	27	0.0741	25	c.130 others(44): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(18): Show CAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02257.hp2 HG02523.hp1 others(16): Show HG01928.hp2 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03579.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0029 a0001c0005t0007 a0003c0004t0005	a0001c0001t0001g0044 a0001c0001t0001g0323 a0001c0001t0001g0324 others(15): Show a0001c0001t0001g0044 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0006g0274 a0001c0001t0006g0277 a0001c0001t0029g0365 a0001c0005t0007g0367 a0001c0005t0007g0369 a0001c0005t0007g0371 a0003c0004t0005g0149 a0003c0004t0005g0150	19	89	0.2135	25	c.61- others(40): Show c.61-4359_61-4335dupTTTCTTTTCTTTTCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar

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